Sample records for developmental delay clinic
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Verbruggen, Krijn T; Knijff, Wilma A; Soorani-Lunsing, Roelineke J; Sijens, Paul E; Verhoeven, Nanda M; Salomons, Gajja S; Goorhuis-Brouwer, Siena M; van Spronsen, Francjan J
2007-09-01
Guanidinoacetate N-methyltransferase (GAMT) deficiency is a defect in the biosynthesis of creatine (Cr). So far, reports have not focused on the description of developmental abilities in this disorder. Here, we present the result of formal testing of developmental abilities in a GAMT-deficient patient. Our patient, a 3-year-old boy with GAMT deficiency, presented clinically with a severe language production delay and nearly normal nonverbal development. Treatment with oral Cr supplementation led to partial restoration of the cerebral Cr concentration and a clinically remarkable acceleration of language production development. In contrast to clinical observation, formal testing showed a rather harmonic developmental delay before therapy and a general improvement, but no specific acceleration of language development after therapy. From our case, we conclude that in GAMT deficiency language delay is not always more prominent than delays in other developmental areas. The discrepancy between the clinical impression and formal testing underscores the importance of applying standardized tests in children with developmental delays. Screening for Cr deficiency by metabolite analysis of body fluids or proton magnetic resonance spectroscopy of the brain deficiency should be considered in any child with global developmental delay/mental retardation lacking clues for an alternative etiology.
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Profile of referrals for early childhood developmental delay to ambulatory subspecialty clinics.
Shevell, M I; Majnemer, A; Rosenbaum, P; Abrahamowicz, M
2001-09-01
The objective of this study was to determine the profile and pattern of referral to subspecialty clinics of young children with suspected developmental delay together with the factors prompting their referral. All children under 5 years of age referred to either developmental pediatrics or pediatric neurology clinics at a single tertiary hospital over an 18-month period were prospectively identified. Standardized demographic and referral information were collected at intake, final developmental delay subtype diagnosed was identified, and referring physicians were surveyed regarding factors prompting referral. A total of 224 children met study criteria. There was a marked male preponderance (166/224), especially among those with either cognitive or language delay. Two delay subtypes, global developmental delay and developmental language disorder, accounted for two thirds of the diagnoses made. For slightly more than one third of the children (75/224), the delay subtype diagnosed following specialty evaluation was different from that initially suspected by the referring physician. A mean delay of 15.5 months was observed for the cohort as a whole between initial parental concern and specialty assessment. For referring physicians, the major factor prompting referral was the severity of the observed delay. The most important aspects of the specialty evaluation according to referral sources were the identification of a possible etiology and confirmation of delay. A profile of referrals and the rationale thereof for a cohort of children with suspected developmental delay is presented that, although locale specific, has implications for service provision and training.
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D'Arrigo, Stefano; Gavazzi, Francesco; Alfei, Enrico; Zuffardi, Orsetta; Montomoli, Cristina; Corso, Barbara; Buzzi, Erika; Sciacca, Francesca L; Bulgheroni, Sara; Riva, Daria; Pantaleoni, Chiara
2016-05-01
Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization. © The Author(s) 2015.
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Global Developmental Delay and Its Relationship to Cognitive Skills
ERIC Educational Resources Information Center
Riou, Emilie M.; Ghosh, Shuvo; Francoeur, Emmett; Shevell, Michael I.
2009-01-01
Global developmental delay (GDD) is defined as evidence of significant delays in two or more developmental domains. Our study determined the cognitive skills of a cohort of young children with GDD. A retrospective chart review of all children diagnosed with GDD within a single developmental clinic was carried out. Scores on fine motor (Peabody…
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A clinical approach to developmental delay and intellectual disability.
Vasudevan, Pradeep; Suri, Mohnish
2017-12-01
Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability. © Royal College of Physicians 2017. All rights reserved.
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Lee, Jin Sook; Hwang, Hee; Kim, Soo Yeon; Kim, Ki Joong; Choi, Jin Sun; Woo, Mi Jung; Choi, Young Min; Jun, Jong Kwan; Lim, Byung Chan; Chae, Jong Hee
2018-09-01
Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea. We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR. We found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13. This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability. © The Korean Society for Laboratory Medicine.
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Nair, M K C; Resmi, V R; Krishnan, Rajee; Harikumaran Nair, G S; Leena, M L; Bhaskaran, Deepa; George, Babu; Russell, Paul Swamidhas Sudhakar
2014-12-01
To document the experiences of the intervention given to children who attended the developmental therapy clinic of Child Development Centre (CDC) Kerala, a specialized clinic for providing developmental intervention/therapy for babies less than two years with developmental delay/disability. All the babies referred to this speciality clinic from developmental screening/evaluation clinics of CDC were registered in the clinic and re-evaluation was done using CDC grading for head holding, sitting, standing, Amiel Tison passive angles, and Trivandrum Developmental Screening Chart (TDSC) 0-2 y. Out of a total of 600 consecutive babies below 2 y with developmental delay/disability referred to developmental therapy clinic, on comparing the test results at enrollment and after 6 mo of intervention, a statistically significant reduction was observed (i) in the 2-4 mo age group with regard to abnormal TDSC (25.5%), (ii) in the 4-8 mo age group with regard to abnormal head holding grade (87.1%) and abnormal TDSC (19.4%), (iii) in the 8-12 mo age group, with regard to abnormal sitting grade (71.7%) and (iv) in the above 12 mo age group with regard to abnormal sitting grade (35.3%) and abnormal standing grade (78.8%). The experience of organizing the developmental intervention/therapy clinic at CDC Kerala has shown that therapy services by developmental therapists in a centre and supportive therapy by mother at home is useful in improving the developmental status of children with developmental delay.
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Nair, M K C; Lakshmi, M A; Latha, S; Lakshmi, Geetha; Harikumaran Nair, G S; Bhaskaran, Deepa; George, Babu; Leena, M L; Russell, Paul Swamidhas Sudhakar
2014-12-01
To describe the last 5 years' experience of Child Development Centre (CDC), Kerala Developmental Evaluation Clinic II for children between 2 and 10 y, referred for suspicion of developmental lag in the preschool years and scholastic difficulty in the primary classes with specific focus on developmental profile and the experience of the home based intervention package taught to the mothers. A team of evaluators including developmental therapist, preschool teacher with special training in clinical child development, speech therapist, special educator, clinical psychologist and developmental pediatrician assessed all the children referred to CDC Kerala. Denver Developmental Screening Test (DDST-II), Vineland Social Maturity Scale (VSMS) and Intelligent Quotient (IQ) tests were administered to all children below 6 y and those above 6 with apparent developmental delay. Speech/delay (35.9%), behavior problem (15.4%), global delay/ intellectual disability (15.4%), learning problem (10.9%), pervasive developmental disorders (7.7%), seizure disorder (1.7%), hearing impairment (0.7%), and visual impairment (0.7%) were the clinical diagnosis by a developmental pediatrician. Each child with developmental problem was offered a home based intervention package consisting of developmental therapy and special education items, appropriate to the clinical diagnosis of the individual child and the same was taught to the mother. The experience of conducting the developmental evaluation clinic for children between 2 and 10 y has shown that a team consisting of developmental therapist, speech therapist, preschool teacher, special educator, clinical child psychologist and developmental pediatrician, using appropriate test results of the child could make a clinical diagnosis good enough for providing early intervention therapy using a home based intervention package.
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Milne, Susan; McDonald, Jenny; Comino, Elizabeth J
2012-02-01
In response to concerns that the Bayley Scales of Infant and Toddler Development III (BSIDIII) underestimate delay in clinical populations, this study explores developmental quotient scores as an alternative to composite scores for these children. One hundred and twenty-two children aged ≤42 months, referred for diagnosis of developmental disability from January 2007 to May 2010, were assessed, and their composite and developmental quotient scores on each scale were compared. Composite scores identified only 22% (cognitive), 27% (motor), and 47.5% (language) of children as having a developmental disability. Developmental quotient scores were significantly lower than composite scores, giving rates of developmental disability of 56.6% (cognitive), 48.4% (motor), and 74.6% (language) and more closely matching both clinical impressions of delay and the proportions of those children who were also delayed on standardized tests of adaptive function.
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Case study: child with global developmental delay.
Okumakpeyi, Pearline; Lunney, Margaret
2010-01-01
This case study focused on the care of a child with global developmental delay. Data were obtained through the author's clinical practice in long-term care pediatric rehabilitation and literature sources. NANDA-International Classifications, the Nursing Interventions Classification (NIC), and Nursing Outcomes Classification (NOC) were used to identify the appropriate nursing diagnosis, nursing interventions, and patient outcomes. This case study provides the pertinent nursing diagnoses, interventions, and outcomes for a child with global developmental delay. The interdisciplinary team approach and family involvement is addressed. Use of NANDA, NIC, and NOC outcomes constructs for enhancing the care of a child with global developmental delay.
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Kim, Seong Woo; Jeon, Ha Ra; Park, Eun Ji; Chung, Hee Jung; Song, Jung Eun
2014-12-01
To compare and analyze the clinical characteristics of children with delayed language acquisition due to two different diagnoses, which were specific language impairment (SLI, a primarily delayed language development) and global developmental delay (GDD, a language delay related to cognitive impairment). Among 1,598 children who had visited the developmental delay clinic from March 2005 to February 2011, 467 children who were diagnosed with GDD and 183 children who were diagnosed with SLI were included in this study. All children were questioned about past, family, and developmental history, and their language competences and cognitive function were assessed. Some children got electroencephalography (EEG), in case of need. The presence of the perinatal risk factors showed no difference in two groups. In the children with GDD, they had more delayed acquisition of independent walking and more frequent EEG abnormalities compared with the children with SLI (p<0.01). The positive family history of delayed language development was more prevalent in children with SLI (p<0.01). In areas of language ability, the quotient of receptive language and expressive language did not show any meaningful statistical differences between the two groups. Analyzing in each group, the receptive language quotient was higher than expressive language quotient in both group (p<0.01). In the GDD group, the Bayley Scales of Infant Development II (BSID-II) showed a marked low mental and motor quotient while the Wechsler Intelligence Scale showed low verbal and nonverbal IQ. In the SLI group, the BSID-II and Wechsler Intelligence Scale showed low scores in mental area and verbal IQ but sparing motor area and nonverbal IQ. The linguistic profiles of children with language delay could not differentiate between SLI and GDD. The clinicians needed to be aware of these developmental issues, and history taking and clinical evaluation, including cognitive assessment, could be helpful to diagnose adequately and set the treatment plan for each child.
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Voysey, Merryn; Tavana, Rahele; Farooq, Yama; Heath, Paul T; Bonhoeffer, Jan; Snape, Matthew D
2015-12-16
Serious adverse events (SAEs) in clinical trials require reporting within 24h, including a judgment of whether the SAE was related to the investigational product(s). Such assessments are an important component of pharmacovigilance, however classification systems for assigning relatedness vary across study protocols. This on-line survey evaluated the consistency of SAE causality assessment among professionals with vaccine clinical trial experience. Members of the clinical advisory forum of experts (CAFÉ), a Brighton Collaboration online-forum, were emailed a survey containing SAEs from hypothetical vaccine trials which they were asked to classify. Participants were randomised to either two classification options (related/not related to study immunisation) or three options (possibly/probably/unrelated). The clinical scenarios, were (i) leukaemia diagnosed 5 months post-immunisation with a live RSV vaccine, (ii) juvenile idiopathic arthritis (JIA) 3 months post-immunisation with a group A streptococcal vaccine, (iii) developmental delay diagnosed at age 10 months after infant capsular group B meningococcal vaccine, (iv) developmental delay diagnosed at age 10 months after maternal immunisation with a group B streptococcal vaccine. There were 140 respondents (72 two options, 68 three options). Across all respondents, SAEs were considered related to study immunisation by 28% (leukaemia), 74% (JIA), 29% (developmental delay after infant immunisation) and 42% (developmental delay after maternal immunisation). Having only two options made respondents significantly less likely to classify the SAE as immunisation-related for two scenarios (JIA p=0.0075; and maternal immunisation p=0.045). Amongst study investigators (n=43) this phenomenon was observed for three of the four scenarios: (JIA p=0.0236; developmental delay following infant immunisation p=0.0266; and developmental delay after maternal immunisation p=0.0495). SAE causality assessment is inconsistent amongst study investigators and can be influenced by the classification systems available to them. There is a pressing need for SAE classification systems to be standardised across study protocols. Copyright © 2015 Elsevier Ltd. All rights reserved.
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ERIC Educational Resources Information Center
Grigorenok, Elena L.; Klin, Ami; Pauls, David L.; Senft, Riley; Hooper, Catalina; Volkmar, Fred
2002-01-01
This study of hyperlexia in 80 children with developmental delays found no significant differences in the frequency of hyperlexia in girls compared with boys; a significantly elevated frequency of hyperlexia in children diagnosed with pervasive developmental disorders (PDD) compared with children with non-PDD diagnoses; and a similar range of IQ…
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Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.
Kim, Yoon-Myung; Choi, In-Hee; Kim, Jun Suk; Kim, Ja Hye; Cho, Ja Hyang; Lee, Beom Hee; Kim, Gu-Hwan; Choi, Jin-Ho; Seo, Eul-Ju; Yoo, Han-Wook
2016-11-01
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3 , RAB , RABL2B , and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.
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The child with developmental delay: An approach to etiology
Meschino, Wendy S
2003-01-01
OBJECTIVE: To describe an approach to history, physical examination and investigation for the developmentally delayed child. METHODS: A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation. CONCLUSIONS: A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features. PMID:20011550
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Zwemer, Eric; Bernson-Leung, Miya; Rea, Corinna; Patel, Archana A; Guerriero, Rejean; Urion, David K; Toomey, Sara L
2018-01-01
The national shortage of pediatric neurologists is worsening, yet referral rates by pediatricians are high. Suboptimal training of pediatric residents in care of patients with neurologic disease may be a contributing factor. We formed a partnership between the Boston Children's Primary Care at Longwood clinic and Child Neurology Residency Training Program. The educational intervention included lectures, observed neurologic examinations, in-person and virtual triage, and an electronic medical record-based consult system. Residents in other primary care clinics served as the comparison group. Intervention-group residents reported significantly improved confidence in diagnosis of chronic/recurrent headache, attention deficit hyperactivity disorder (ADHD), and developmental delay; initial management of ADHD and developmental delay; and secondary management of ADHD, developmental delay, and concussion/traumatic brain injury. Comparison-group residents reported significantly improved confidence only in diagnosis of developmental delay. Our multipronged intervention is a promising approach to improving pediatric resident training in pediatric neurology and may be generalizable to subspecialty collaborations for other residency programs.
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Lim, Byung Chan; Park, Woong Yang; Seo, Eul-Ju; Kim, Ki Joong; Hwang, Yong Seung; Chae, Jong Hee
2011-05-01
We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. Contiguous heterozygous deletion of FOXL2, ATR, ZIC1, and ZIC4 was postulated as the causative mechanism of the clinical phenotype. The association of blepharophimosis, ptosis, and epicanthus inversus syndrome with developmental delay or mental retardation may be an indication for the use of brain imaging and chromosomal analysis capable of detecting chromosomal rearrangements encompassing several candidate genes.
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Bourkiza, Rabia; Joyce, Sarah; Patel, Himanshu; Chan, Michelle; Meyer, Esther; Maher, Eamonn R; Reddy, M Ashwin
2010-06-01
A 15-year-old boy with developmental delay presented to the pediatric ophthalmology clinic with bilateral pulverulent cataracts. The family was examined for developmental delay, cataracts and systemic problems. The parents were consanguineous and originally from Bangladesh. All the children were born in the UK. The mother and 5 children had developmental delay. Three children had global developmental delay, diarrhea and pulverulent cataracts. Two children had microcephaly, developmental delay, constipation and no cataracts. The mother did not have microcephaly, cataracts or gastrointestinal problems. Linkage analysis via autozygosity testing was performed for detection of loci and candidate genes. The patients with cataracts were segregated with homozygous mutations in the CYP27A1 (G to A substitution at position +1 of intron 6). The complex nature of this family's findings suggested that it had an unusual autosomal dominant condition with variable expression. Autozygosity testing demonstrated that three members had Cerebrotendinous xanthomatosis (CTX), which is inherited in an autosomal recessive manner. The aetiology of the developmental delay in other family members remains unknown. Cerebrotendinous xanthomatosis is a rare autosomal recessive condition that can result in neurological deficits and early death if left untreated. In view of the reversible nature of the condition with appropriate treatment, there needs to be a high level of suspicion of CTX for any child with cataracts and developmental delay even if the pattern of inheritance is not straightforward at initial assessment.
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Baker, B L; McIntyre, L L; Blacher, J; Crnic, K; Edelbrock, C; Low, C
2003-01-01
Children with intellectual disability are at heightened risk for behaviour problems and diagnosed mental disorder. The present authors studied the early manifestation and continuity of problem behaviours in 205 pre-school children with and without developmental delays. Behaviour problems were quite stable over the year from age 36-48 months. Children with developmental delays were rated higher on behaviour problems than their non-delayed peers, and were three times as likely to score in the clinical range. Mothers and fathers showed high agreement in their rating of child problems, especially in the delayed group. Parenting stress was also higher in the delayed group, but was related to the extent of behaviour problems rather than to the child's developmental delay. Over time, a transactional model fit the relationship between parenting stress and behaviour problems: high parenting stress contributed to a worsening in child behaviour problems over time, and high child behaviour problems contributed to a worsening in parenting stress. Findings for mothers and fathers were quite similar.
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ERIC Educational Resources Information Center
Sinani, Charikleia; Sugden, David A.; Hill, Elisabeth L.
2011-01-01
Dyspraxia, a difficulty in executing an operationalised act, has been associated with Developmental Coordination Disorder (DCD). However, issues relating to the area such as comparisons across modalities, comparisons of school vs. clinical populations, and developmental delay vs. pathology have not been addressed in the same, comprehensive study.…
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Microarray as a First Genetic Test in Global Developmental Delay: A Cost-Effectiveness Analysis
ERIC Educational Resources Information Center
Trakadis, Yannis; Shevell, Michael
2011-01-01
Aim: Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with…
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ERIC Educational Resources Information Center
Barney, Chantel C.; Tervo, Raymond; Wilcox, George L.; Symons, Frank J.
2017-01-01
Assessing tactile function among children with intellectual, motor, and communication impairments remains a clinical challenge. A case control design was used to test whether children with global developmental delays (GDD; n = 20) would be more/less reactive to a modified quantitative sensory test (mQST) compared to controls (n = 20). Reactivity…
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Webster, Richard I; Majnemer, Annette; Platt, Robert W; Shevell, Michael I
2008-01-01
Chronic disorders are known to have a wide-ranging impact on overall health and family dynamics. The objective of this study was to assess child health and well-being and parental stress in a cohort of school-age children diagnosed before school entry with either global developmental delay or developmental language impairment. In total, 65 children with preschool developmental delay were assessed at school age (mean +/- SD age: 7.3 +/- 0.7 years) with the Child Health Questionnaire and Parenting Stress Index, with a mean interval between assessment of 3.9 years. Almost all children who completed testing (60/62) continued to show developmental impairments across domains. On the Child Health Questionnaire, children showed the greatest impairment on the mental health scale (median z score: -0.9). The median Child Health Questionnaire psychosocial health score (40.7) was almost 1 SD below established normative values ( P < .001). More than 40% of parents had a Parenting Stress Index above the 85th percentile (clinically significant parenting stress). Using multiple linear regression analysis, high levels of parenting stress were best predicted by a child's Child Health Questionnaire psychosocial health score (r2 = 0.49, P < .001). Thus, 4 years after a preschool-age diagnosis of developmental delay, poor psychosocial health was a common comorbidity. Almost half the parents showed clinically significant levels of parenting stress. There is a need to both recognize and provide ongoing social and emotional support for young children diagnosed with developmental disability and their families.
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Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.
Fan, Yanjie; Qiu, Wenjuan; Wang, Lili; Gu, Xuefan; Yu, Yongguo
2016-02-01
Genomic rearrangements involving dosage change of genes have been implicated in a range of developmental disorders. Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability. However, the genetic and clinical profiles involving AUTS2 variations have not been fully characterized in Asian patients yet, and the outcome of treatments has not been reported. Here we report de novo exonic deletions of AUTS2 detected by chromosomal microarray analysis (CMA) in three Chinese children referred to the clinic for developmental delay, including two deletions involving only exon 6 (98.4 and 262 kb, respectively) and one deletion involving the C-terminal of AUTS2 (2147 kb). The phenotypic presentations of these three patients were described and compared with previous cases in literature. In addition, we presented the outcome of hormonal treatment for short stature in one patient. © 2015 Wiley Periodicals, Inc.
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Sices, Laura
2009-01-01
Objective Pediatricians frequently report the use of developmental milestones in monitoring young children’s development, despite evidence that use of screening tools improves detection of developmental delays. Methods Core texts in the field of pediatrics and developmental-behavioral pediatrics were reviewed for content and presentation on child development. Most texts included and many focused on developmental milestones, many with an emphasis on 50th percentile milestone data. Problems and limitations in the use of 50th percentile milestones to monitor young children’s development and to identify children whose development is suspicious for delay, include questionable utility in clinical decision making and the potential to increase parental anxiety. Results The recommendation is made to reconsider a focus on 50th percentile milestone data in pediatric training and practice, in favor of measures that have better clinical utility and are more psychometrically sound. Conclusion A conceptual approach to the presentation of developmental milestones differentiates the use of the 10th, 50th, and 90th percentiles of age of achievement of skills, based on the clinical purpose of surveillance. PMID:17353732
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Incremental Validity in the Clinical Assessment of Early Childhood Development
ERIC Educational Resources Information Center
Liu, Xin; Zhou, Xiaobin; Lackaff, Julie
2013-01-01
The authors demonstrate the increment of clinical validity in early childhood assessment of physical impairment (PI), developmental delay (DD), and autism (AUT) using multiple standardized developmental screening measures such as performance measures and parent and teacher rating scales. Hierarchical regression and sensitivity/specificity analyses…
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Magnetic resonance imaging (MRI) evaluation of developmental delay in pediatric patients.
Ali, Althaf S; Syed, Naziya P; Murthy, G S N; Nori, Madhavi; Abkari, Anand; Pooja, B K; Venkateswarlu, J
2015-01-01
Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the developmental delay in Indian children which will help the clinicians in providing an estimation of the child's ultimate developmental potential and organize specific treatment requirement and also relieve parental apprehension. To study the prevalence of normal and abnormal MRI in pediatric patients presenting with developmental delay and further categorize the abnormal MRI based on its morphological features. It is a prospective, observational & descriptive study of MRI Brain in 81 paediatric patients (46 Males and 35 Females), aged between three months to 12 years; presenting with developmental delay in Deccan College of Medical Sciences, Hyderabad; over a period of three years (Sept 2011 to Sept 2014). MRI brain was done on 1.5T Siemens Magnetom Essenza & 0.35T Magnetom C with appropriate sequences and planes after making the child sleep/sedated/ anesthetized. Various anatomical structures like Ventricles, Corpus callosum, etc were systematically assessed. The MRI findings were divided into various aetiological subgroups. Normal MRI findings were seen in 32% cases and 68% had abnormal findings of which the proportion of Traumatic/ Neurovascular Diseases, Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were 31%, 17%, 10%, 2.5% and 7.5% respectively. The ventricles and white matter mainly the corpus callosum were the most commonly affected anatomical structures. The diagnostic yield was found to be 68% and higher yield was seen in patients presenting with developmental delay plus. The clinical diagnosis of developmental delay should not be the end point, but rather a springboard for an effective search for causal factors. MRI is the best investigation with a high yield in such patients.
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Magnetic Resonance Imaging (MRI) Evaluation of Developmental Delay in Pediatric Patients
Syed, Naziya P.; Murthy, G.S.N.; Nori, Madhavi; Abkari, Anand; Pooja, B.K.; Venkateswarlu, J.
2015-01-01
Introduction: Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the developmental delay in Indian children which will help the clinicians in providing an estimation of the child’s ultimate developmental potential and organize specific treatment requirement and also relieve parental apprehension. Aims and Objectives: To study the prevalence of normal and abnormal MRI in pediatric patients presenting with developmental delay and further categorize the abnormal MRI based on its morphological features. Materials and Methods: It is a prospective, observational & descriptive study of MRI Brain in 81 paediatric patients (46 Males and 35 Females), aged between three months to 12 years; presenting with developmental delay in Deccan College of Medical Sciences, Hyderabad; over a period of three years (Sept 2011 to Sept 2014). MRI brain was done on 1.5T Siemens Magnetom Essenza & 0.35T Magnetom C with appropriate sequences and planes after making the child sleep/sedated/ anesthetized. Various anatomical structures like Ventricles, Corpus callosum, etc were systematically assessed. The MRI findings were divided into various aetiological subgroups. Results: Normal MRI findings were seen in 32% cases and 68% had abnormal findings of which the proportion of Traumatic/ Neurovascular Diseases, Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were 31%, 17%, 10%, 2.5% and 7.5% respectively. The ventricles and white matter mainly the corpus callosum were the most commonly affected anatomical structures. The diagnostic yield was found to be 68% and higher yield was seen in patients presenting with developmental delay plus. Conclusion: The clinical diagnosis of developmental delay should not be the end point, but rather a springboard for an effective search for causal factors. MRI is the best investigation with a high yield in such patients. PMID:25738057
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Uwemedimo, Omolara Thomas; Howlader, Afrin; Pierret, Giselina
According to the World Health Organization, >200 million children in low- and middle-income countries experience developmental delays. However, household structure and parenting practices have been minimally explored as potential correlates of developmental delay in low- and middle-income countries, despite potential as areas for intervention. The objective of the study was to examine associations of developmental delays with use of World Health Organization-recommended parenting practices among a clinic-based cohort of children aged 6-60 months attending in La Romana, Dominican Republic. This study was conducted among 74 caregiver-child pairs attending the growth-monitoring clinic at Hospital Francisco Gonzalvo in June 2015. The Malawi Developmental Assessment Tool was adapted and performed on each child to assess socioadaptive, fine motor, gross motor, and language development. The IMCI Household Level Survey Questionnaire was used to assess parenting practices. Fisher's exact test was used to determine associations significant at P < .05. Significant variables were then entered into a multivariable logistic regression. Almost two-thirds of children had a delay in at least 1 developmental domain. Most caregivers used scolding (43.2%) or spanking (44%) for child discipline. Children who were disciplined by spanking and scolding were more likely to have language delay (P = .007) and socioadaptive delay (P = .077), respectively. On regression analysis, children with younger primary caregivers had 7 times higher odds of language delay (adjusted odds ratio [AOR]: 7.35, 95% confidence interval [CI]: 1.52-35.61) and 4 times greater odds of any delay (AOR: 4.72, 95% CI: 1.01-22.22). In addition, children punished by spanking had 5 times higher odds of having language delay (AOR: 5.04, 95% CI: 1.13-22.39). Parenting practices such as harsh punishment and lack of positive parental reinforcement were found to have strong associations with language and socioadaptive delays. Likewise, delays were also more common among children with younger caregivers. Copyright © 2017 Icahn School of Medicine at Mount Sinai. Published by Elsevier Inc. All rights reserved.
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A Mobile Early Stimulation Program to Support Children with Developmental Delays in Brazil.
Dias, Raquel da Luz; Silva, Kátia Cristina Correa Guimarães; Lima, Marcela Raquel de Oliveira; Alves, João Guilherme Bezerra; Abidi, Syed Sibte Raza
2018-01-01
Developmental delay is a deviation development from the normative milestones during the childhood and it may be caused by neurological disorders. Early stimulation is a standardized and simple technique to treat developmental delays in children (aged 0-3 years), allowing them to reach the best development possible and to mitigate neuropsychomotor sequelae. However, the outcomes of the treatment depending on the involvement of the family, to continue the activities at home on a daily basis. To empower and educate parents of children with neurodevelopmental delays to administer standardized early stimulation programs at home, we developed a mobile early stimulation program that provides timely and evidence-based clinical decision support to health professionals and a personalized guidance to parents about how to administer early stimulation to their child at home.
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ERIC Educational Resources Information Center
Fey, Marc E.; Warren, Steven F.; Brady, Nancy; Finestack, Lizbeth H.; Bredin-Oja, Shelley L.; Fairchild, Martha; Sokol, Shari; Yoder, Paul J.
2006-01-01
Purpose: To evaluate the efficacy of a 6-month course of responsivity education/prelinguistic milieu teaching (RE/PMT) for children with developmental delay and RE/PMT's effects on parenting stress in a randomized clinical trial. Method: Fifty-one children, age 24-33 months, with no more than 10 expressive words or signs, were randomly assigned to…
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ERIC Educational Resources Information Center
Zerbo, Ousseny; Iosif, Ana-Maria; Walker, Cheryl; Ozonoff, Sally; Hansen, Robin L.; Hertz-Picciotto, Irva
2013-01-01
We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though…
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Nair, M K C; Mini, A O; Leena, M L; George, Babu; Harikumaran Nair, G S; Bhaskaran, Deepa; Russell, Paul Swamidhas Sudhakar
2014-12-01
To assess the effect of systematic clinic and home based early language intervention program in children reporting to the early language intervention clinic with full partnership of specially trained developmental therapist and the parents. All babies between 0 and 3 y referred to Child Development Centre (CDC) Kerala for suspected speech/language delay were assessed and those without hearing impairment were screened first using Language Evaluation Scale Trivandrum (LEST) and assessed in detail using Receptive Expressive Emergent Language Scale (REELS). Those having language delay are enrolled into the early language intervention program for a period of 6 mo, 1 h at the CDC clinic once every month followed by home stimulation for rest of the month by the mother trained at CDC. Out of the total 455 children between 0 and 3 y, who successfully completed 6 mo intervention, the mean pre and post intervention language quotient (LQ) were 60.79 and 70.62 respectively and the observed 9.83 increase was statistically significant. The developmental diagnosis included developmental delay (62.4%), global developmental delay (18.5%), Trisomy and other chromosomal abnormalities (10.5%), microcephaly and other brain problems (9.9%), misarticulation (8.4%), autistic features (5.3%) and cleft palate and lip (3.3%) in the descending order. In the present study among 455 children between 0 and 3 y without hearing impairment, who successfully completed 6 mo early language intervention, the mean pre and post intervention LQ were 60.79 and 70.62 respectively and the observed 9.83 increase was statistically significant.
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Hsieh, Ru-Lan; Hsieh, Wen-Huei; Lee, Wen-Chung
2016-08-01
We investigated the clinical efficacy on family functioning and parental satisfaction of a short-term family-centered workshop for children with developmental delays.A total of 32 children with developmental delays and their parents participated in 2-hour weekly group therapy sessions over 6 weeks. The workshop was conducted by rehabilitation professionals and teachers using a family-centered multidisciplinary approach. Both before and after the 6-week workshop, the parents were administered the Pediatric Quality of Life Inventory (PedsQL) Family Impact Module, the PedsQL Healthcare Satisfaction Module, the Hospital Anxiety and Depression Scale, and the World Health Organization Quality of Life brief assessment instrument. Overall satisfaction with the workshop was also evaluated.Significant improvements were noted in physical aspect (P = 0.03), communication (P = 0.002), and daily activities (P = 0.04) in the PedsQL Family Impact Module, and in communication (P = 0.03) and technical skills (P = 0.05) in the PedsQL Healthcare Satisfaction Module. Overall satisfaction with the workshop was rated as very high. There was no significant effect on psychological distress or quality of life.Short-term family-centered workshops for children with developmental delays improved family functioning and the parental perception of satisfaction, including health care satisfaction.
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DNA Damage Analysis in Children with Non-syndromic Developmental Delay by Comet Assay.
Susai, Surraj; Chand, Parkash; Ballambattu, Vishnu Bhat; Hanumanthappa, Nandeesha; Veeramani, Raveendranath
2016-05-01
Majority of the developmental delays in children are non-syndromic and they are believed to have an underlying DNA damage, though not well substantiated. Hence the present study was carried out to find out if there is any increased DNA damage in children with non-syndromic developmental delay by using the comet assay. The present case-control study was undertaken to assess the level of DNA damage in children with non syndromic developmental delay and compare the same with that of age and sex matched controls using submarine gel electrophoresis (Comet Assay). The blood from clinically diagnosed children with non syndromic developmental delay and controls were subjected for alkaline version of comet assay - Single cell gel electrophoresis using lymphocytes isolated from the peripheral blood. The comets were observed under a bright field microscope; photocaptured and scored using the Image J image quantification software. Comet parameters were compared between the cases and controls and statistical analysis and interpretation of results was done using the statistical software SPSS version 20. The mean comet tail length in cases and control was 20.77+7.659μm and 08.97+4.398μm respectively which was statistically significant (p<0.001). Other comet parameters like total comet length and % DNA in tail also showed a statistically significant difference (p < 0.001) between cases and controls. The current investigation unraveled increased levels of DNA damage in children with non syndromic developmental delay when compared to the controls.
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Children with developmental and behavioural concerns in Singapore.
Lian, Wee Bin; Ho, Selina Kah Ying; Choo, Sylvia Hean Tean; Shah, Varsha Atul; Chan, Daisy Kwai Lin; Yeo, Cheo Lian; Ho, Lai Yun
2012-07-01
Childhood developmental and behavioural disorders (CDABD) have been increasingly recognised in recent years. This study evaluated the profiles and outcomes of children referred for developmental and behavioural concerns to a tertiary child developmental centre in Singapore. This is the first such regional database. Baseline information, obtained through a questionnaire, together with history at first consultation, provided information for referral, demographic and presentation profiles. Clinical formulations were then made. Definitive developmental and medical diagnoses, as well as outcomes based on clinical assessment and standardised testing, were recorded at one year post first consultation. Out of 1,304 referrals between January 1, 2003 and December 1, 2004, 45% were 2-4 years old and 74% were boys. The waiting time from referral to first consultation exceeded four months in 52% of children. Following clinical evaluation, 7% were found to be developmentally appropriate. The single most common presenting concern was speech and language (S&L) delay (29%). The most common clinical developmental diagnosis was autism spectrum disorder (ASD) (30%), followed by isolated S&L disorder, global developmental delay (GDD) and cognitive impairment (CI). Recommendations included S&L therapy (57%), occupational therapy (50%) and psychological/behavioural services (40%). At one year, ASD remained the most common definitive developmental diagnosis (31%), followed by S&L disorder, CI and GDD. Most were children with high-prevalence, low-moderate severity disorders who could potentially achieve fair-good prognosis with early intervention. Better appreciation of the profile and outcome of children with CDABD in Singapore could enable better resource planning for diagnosis and intervention.
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Sotos Syndrome. Clinical Exchange.
ERIC Educational Resources Information Center
Shuey, Elaine M.; Jamison, Kristen
1996-01-01
Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)
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Tang, Mei-Hua; Lin, Chin-Kai; Lin, Wen-Hsien; Chen, Chao-Huei; Tsai, Sen-Wei; Chang, Yin-Yi
2011-06-01
Early rehabilitation for children with developmental delay without a defined etiology have included home and clinic programs, but no comparisons have been made and efficacy is uncertain. We compared a weekly visit for institutional-based therapy (IT) to IT plus a structured home activity program (HAP). Seventy children who were diagnosed with motor or global developmental delay (ages 6-48 months and mean developmental age 12.5 months) without defined etiology were recruited (including 45 males and 23 females). The outcomes included the comprehensive developmental inventory for infants and toddlers test and the pediatric evaluation of disability inventory. Children who received only IT improved in developmental level by 2.11 months compared with 3.11 months for those who received a combination of IT and HAP (p = 0.000). On all domains of the comprehensive developmental inventory for infants and toddlers test, except for self-help, children who participated in HAP showed greater improvements, including in cognition (p = 0.015), language (p = 0.010), motor (p = 0.000), and social (p = 0.038) domains. Except on the subdomain of self-care with caregiver assistance, the HAP group showed greater improvement in all the pediatric evaluation of disability inventory subdomains (p < 0.05). Early intervention programs are helpful for these children, and the addition of structured home activity programs may augment the effects on developmental progression. Copyright © 2011. Published by Elsevier B.V.
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Hsieh, Ru-Lan; Lee, Wen-Chung; Lin, Jui-Hsiang
2016-01-01
This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years) were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL); and the children’s upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents’ satisfaction with their children’s care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009) during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays. Trial Registration: ClinicalTrials.gov NCT02184715 PMID:26983099
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Hsieh, Ru-Lan; Lee, Wen-Chung; Lin, Jui-Hsiang
2016-01-01
This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years) were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL); and the children's upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents' satisfaction with their children's care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009) during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays. ClinicalTrials.gov NCT02184715.
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Yuan, Haiming; Meng, Zhe; Zhang, Lina; Luo, Xiangyang; Liu, Liping; Chen, Mengfan; Li, Xinwei; Zhao, Weiwei; Liang, Liyang
2016-01-01
Interstitial duplications distal to 15q13 are very rare. Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.
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Impact of a "No Mobile Device" Policy on Developmental Surveillance in a Pediatric Clinic.
Regan, Paul A; Fogel, Benjamin S; Hicks, Steven D
2018-04-01
Children commonly use mobile devices at pediatric office visits. This practice may affect patient-provider interaction and undermine accuracy of developmental surveillance. A randomized, provider-blinded, controlled trial examined whether a policy prohibiting mobile device use in a pediatric clinic improved accuracy of pediatricians' developmental surveillance. Children, aged 18 to 36 months, were randomized to device-prohibited (intervention; n = 58) or device-allowed (control; n = 54) groups. After a 30-minute well-visit, development was evaluated as "normal," "borderline," or "delayed" in 5 categories using the Ages and Stages Questionnaire (ASQ-3). ASQ-3 results were compared with providers' clinical assessment in each category. Provider-ASQ discrepancies were more common for intervention participants ( P = .025). Providers "missed" more ASQ-3 "delayed" scores ( P = .005) in the intervention group, particularly in the fine motor domain ( P = .018). Prohibiting mobile device use at well-visits did not improve accuracy of providers' developmental surveillance. Mobile devices may entertain children at well-visits, allowing opportunities for parent-provider discussion, or observation of fine motor skills.
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The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Sohn, Young Bae; Yim, Shin-Young; Cho, Eun-Hae; Kim, Ok-Hwa
2015-02-01
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
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Language screening in preschool Chinese children.
Wong, V; Lee, P W; Lieh-Mak, F; Yeung, C Y; Leung, P W; Luk, S L; Yiu, E
1992-01-01
The incidence of language delay in Chinese preschool children was studied by a stratified proportional sampling of all 3 year olds in Hong Kong. The Developmental Language Screening Scale (DLSS) devised for use with Cantonese speaking children was used to identify children with language delay. Of 855 children sampled in the stage I screening procedure, 4%, 2.8% and 3.3% were identified as having delay in verbal comprehension, expression or both respectively. The stage II clinical diagnostic study included a randomly selected group of children screened in stage I with or without any associated behavioural problem. Among these, 3.4% were identified as having a language delay using the Reynell Language Developmental Scale (RDLS) with a criterion of language age of less than or equal to two-thirds of the chronological age; 3% had specific language delay using the criteria of language age less than or equal to two-thirds the chronological age and developmental age more than or equal to two-thirds the chronological age. More boys were found to have language delay, although this was not statistically significant.
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Early neurodevelopmental outcomes of infants with intestinal failure.
So, Stephanie; Patterson, Catherine; Gold, Anna; Rogers, Alaine; Kosar, Christina; de Silva, Nicole; Burghardt, Karolina Maria; Avitzur, Yaron; Wales, Paul W
2016-10-01
The survival rate of infants and children with intestinal failure is increasing, necessitating a greater focus on their developmental trajectory. To evaluate neurodevelopmental outcomes in children with intestinal failure at 0-15months corrected age. Analysis of clinical, demographic and developmental assessment results of 33 children followed in an intestinal rehabilitation program between 2011 and 2014. Outcome measures included: Prechtl's Assessment of General Movements, Movement Assessment of Infants, Alberta Infant Motor Scale and Mullen Scales of Early Learning. Clinical factors were correlated with poorer developmental outcomes at 12-15months corrected age. Thirty-three infants (17 males), median gestational age 34weeks (interquartile range 29.5-36.0) with birth weight 1.98kg (interquartile range 1.17-2.50). Twenty-nine (88%) infants had abnormal General Movements. More than half had suspect or abnormal scores on the Alberta Infant Motor Scale and medium to high-risk scores for future neuromotor delay on the Movement Assessment of Infants. Delays were seen across all Mullen subscales, most notably in gross motor skills. Factors significantly associated with poorer outcomes at 12-15months included: prematurity, low birth weight, central nervous system co-morbidity, longer neonatal intensive care admission, necrotizing enterocolitis diagnosis, number of operations and conjugated hyperbilirubinemia. Multiple risk factors contribute to early developmental delay in children with intestinal failure, highlighting the importance of close developmental follow-up. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
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Webster, Emily; Cho, Megan T; Alexander, Nora; Desai, Sonal; Naidu, Sakkubai; Bekheirnia, Mir Reza; Lewis, Andrea; Retterer, Kyle; Juusola, Jane; Chung, Wendy K
2016-11-01
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein ( PHIP ) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP , have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations. PHIP produces multiple protein products, such as PHIP1 (also known as DCAF14), PHIP, and NDRP. PHIP1 is one of the multiple substrate receptors of the proteolytic CUL4-DDB1 ubiquitin ligase complex. CUL4B deficiency has been associated with intellectual disability, central obesity, muscle wasting, and dysmorphic features. The overlapping phenotype associated with CUL4B deficiency suggests that PHIP mutations cause disease through disruption of the ubiquitin ligase pathway.
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11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata
2015-06-01
Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.
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2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia.
Zhao, Peiwei; Mao, Bing; Cai, Xiaonan; Jiang, Jun; Liu, Zhisheng; Lin, Jun; He, Xuelian
2018-06-01
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Here we described a 9-month-old female patient with hypotonia in all four limbs, developmental delay, and intellectual disability. In addition, congenital anal atresia was diagnosed and treated after birth, and hearing impairment was found in right ear. Single nucleotide polymorphisms (SNP) array detected a 5.2 Mb deletion on 2q24.2q24.3, including 19 genes (ITGB6; TBR1; SLC4A10; KCNH7 SCN3A; SCN2A et al.). Among these genes, it is affirmative that TBR1 is a causative gene for intellectual disability; however, the pathogenic genes of other phenotypes remain unclear. We briefly review the knowledge of genes likely involved in these clinical features, including hearing impairment, anal atresia, and developmental delay. Copyright © 2018 Elsevier B.V. All rights reserved.
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Oehler, J M; Thompson, R J; Goldstein, R F; Gustafson, K E; Brazy, J E
1996-01-01
To explore the relationship between developmental outcome and behavior of very-low-birth-weight (VLBW) infants (< or = 1500 g) at high and low biologic risk. Descriptive, ex post facto. Clinic for follow-up of infants at high risk. A convenience sample of 102 VLBW infants, free of major congenital anomalies, who completed 6-, 15-, and 24-month developmental testing and who were part of a larger study of 274 VLBW infants. Bayley Scales of Infant Development. Infants at high biologic risk, versus infants at low biologic risk, were less attentive and active through age 15 months and were less adept in gross and fine motor skills through age 24 months (p < or = 0.05-0.001). Infants with continuous delay were less attentive than infants with no delay or late delay through age 24 months, less active through age 15 months (p < or = 0.001-0.001), and less skilled in motor behaviors through age 24 months (p < or = 0.05-0.001). Infants at high biologic risk and infants with developmental delays are less attentive, less active, and less skilled in motor tasks during the first 15-24 months of life, suggesting an association between biologic risk and behavior and developmental delay and behavior.
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Etiologic yield of subspecialists' evaluation of young children with global developmental delay.
Shevell, M I; Majnemer, A; Rosenbaum, P; Abrahamowicz, M
2000-05-01
To determine the etiologic yield of subspecialists' evaluation of young children with global developmental delay. In addition, variables that may predict finding an underlying etiology were also identified. All children <5 years of age, referred over an 18-month period to subspecialty services for initial evaluation of a suspected developmental delay, were prospectively enrolled. Diagnostic yield was ascertained after the completion of clinical assessments and laboratory investigations requested by the evaluating physician. Ninety-nine children (71 boys) were found to have global developmental delay; 96% had a mild or moderate delay documented. An etiologic diagnosis was determined in 44. Four diagnoses (cerebral dysgenesis, hypoxic-ischemic encephalopathy, toxin exposure, chromosomal abnormalities) accounted for 34 of 44 (77%) of the diagnoses made. The presence of co-existing autistic traits was associated with significantly decreased diagnostic yield (0/19 vs 44/80, P <.0001), whereas specific historical features (eg, family history, toxin exposure, and perinatal difficulty; 23/32 vs 21/67, P =.0002) and findings on physical examination (eg, dysmorphology, microcephaly, and focal motor findings; 35/48 vs 9/51, P <.0001) were significantly associated with identifying a diagnosis. Multiple logistic regression analysis identified antenatal toxin exposure, microcephaly, focal motor findings, and the absence of autistic traits as significant predictor variables for the identification of an etiology. An etiologic diagnosis is often possible in the young child with global developmental delay, particularly in the absence of autistic features. Etiologic yield is augmented by presence of specific findings on history or physical examination on initial assessment.
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Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann, Saskia B; Chen, Margaret A; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D; Yuzyuk, Tatiana; Coughlin, Curtis R; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, Leo A J; Sampath, Srirangan; Pai, Emil F; Wevers, Ron A; Tiller, George E
2017-05-01
Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life. If not treated with the pyrimidine precursor uridine, neutropenia, failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue. We identified mild and isolated orotic aciduria in 11 unrelated individuals with diverse clinical signs and symptoms, the most common denominator being intellectual disability/developmental delay. Of note, none had blood count abnormalities, relevant hyperammonemia or altered plasma amino acid profile. All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with complete loss of function. The remaining variants were missense changes and predicted to be damaging to the normal encoded protein. Interestingly, family screening revealed heterozygous UMPS variants in combination with mild orotic aciduria in 19 clinically asymptomatic family members. We therefore conclude that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hypotonia and developmental delay are likely due to ascertainment bias.
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Father's role in parent training for children with developmental delay.
Bagner, Daniel M
2013-08-01
The current pilot study was a quasi-experimental examination of the impact of father involvement in parent training among 44 families with a young child who presented with elevated externalizing behavior problems and developmental delay. All families were offered to receive Parent-Child Interaction Therapy (PCIT), an evidence-based parent-training intervention, at a hospital-based outpatient clinic. Single-mother families were significantly more likely to drop out of treatment than two-parent families. Of the families that completed treatment, children from families in which a father participated in treatment had lower levels of parent-reported externalizing behavior problems than children from single-mother families and children from two-parent families in which the father did not participate in treatment. Additionally, children from father-involved families were significantly more compliant during a cleanup task than children from single-mother families following treatment. The current study is consistent with the limited research examining father involvement in parent training and extends the findings to children with developmental delay. These findings highlight the importance of involving fathers in parent training, particularly when working with children with developmental delay. © 2013 American Psychological Association
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Vestibular Assessments in Children With Global Developmental Delay: An Exploratory Study.
Dannenbaum, Elizabeth; Horne, Victoria; Malik, Farwa; Villeneuve, Myriam; Salvo, Lora; Chilingaryan, Gevorg; Lamontagne, Anouk
2016-01-01
To compare results of 3 clinical vestibular tests between children with global developmental delay (GDD) and children with typical development (TD) and investigate the test-retest reliability. Twenty children with GDD (aged 4.1-12.1 years) and 11 age-matched controls with TD participated. Participants with GDD underwent 2 sessions of testing. Each session consisted of the Clinical Test of Sensory Interaction and Balance (CTSIB), Dynamic Visual Acuity (DVA) test, and the modified Emory Clinical Vestibular Chair Test (m-ECVCT). Up to 33% of the children with GDD had abnormal DVA scores. m-ECVCT results of children with GDD demonstrated larger variance than children with TD. The CTSIB score was significantly reduced in the group with GDD. The test-retest reliability varied, with good reliability for the m-ECVCT and CTSIB, and fair reliability for the DVA. Findings suggest vestibular involvement in children in GDD. The clinical tests demonstrated moderate test-retest reliability.
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Laczmańska, Izabela; Jakubiak, Aleksandra; Slęzak, Ryszard; Pesz, Karolina; Stembalska, Agnieszka; Laczmański, Lukasz; Sąsiadek, Maria M; Smigiel, Robert
2011-01-01
Developmental delay and intellectual disability are significant medical and social problems which concern 1-3% of population. The etiology remains unknown in over half of the cases. To evaluate the efficiency of MLPA (Multiplex Ligation-dependent Probe Amplification) as a screening test in diagnosis of patients with developmental delay and/or intellectual disability. 313 MLPA tests were performed in 256 patients with developmental delay and/ or intellectual disability with unknown etiology. MLPA test was made after exclusion of genetic disorders possible to diagnose by dysmorphological examination or using specifi c genetic tests. Positive results were confirmed by FISH analysis with appropriate probes. Chromosomal microaberrations were identifi ed in 15 patients (4,8%): deletions of 1p36 in 4 cases, in one case deletion of 22q11.21, 22q13.33, SNRPN1, 4ptel, 6qtel, 7q11.23, 16ptel, 18qtel as well as one ca se of deletion 3ptel/duplication 15qtel; deletion 18qtel/duplication Xqtel, and also duplication 7q11.23. Detail clinical analysis was performed in patients with diagnosed microaberrations in MLPA test. The molecular MLPA test, screening for chromosomal microaberration syndromes, should be performed in each patient with developmental delay and/or intellectual disability of unknown etiology and normal cytogenetic analysis, even if congenital defects and positive familial history do not exist.
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Yeung, Kit San; Tso, Winnie Wan Yee; Ip, Janice Jing Kun; Mak, Christopher Chun Yu; Leung, Gordon Ka Chun; Tsang, Mandy Ho Yin; Ying, Dingge; Pei, Steven Lim Cho; Lee, So Lun; Yang, Wanling; Chung, Brian Hon-Yin
2017-01-01
Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients. We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. We identified ten pathogenic/likely pathogenic mutations in PTEN ( n = 4), PIK3CA ( n = 3), MTOR ( n = 1) and PPP2R5D ( n = 2) in ten patients. An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder.
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Jeong, J-W; Sundaram, S; Behen, M E; Chugani, H T
2016-06-01
Pure speech delay is a common developmental disorder which, according to some estimates, affects 5%-8% of the population. Speech delay may not only be an isolated condition but also can be part of a broader condition such as global developmental delay. The present study investigated whether diffusion tensor imaging tractography-based connectome can differentiate global developmental delay from speech delay in young children. Twelve children with pure speech delay (39.1 ± 20.9 months of age, 9 boys), 14 children with global developmental delay (39.3 ± 18.2 months of age, 12 boys), and 10 children with typical development (38.5 ± 20.5 months of age, 7 boys) underwent 3T DTI. For each subject, whole-brain connectome analysis was performed by using 116 cortical ROIs. The following network metrics were measured at individual regions: strength (number of the shortest paths), efficiency (measures of global and local integration), cluster coefficient (a measure of local aggregation), and betweeness (a measure of centrality). Compared with typical development, global and local efficiency were significantly reduced in both global developmental delay and speech delay (P < .0001). The nodal strength of the cognitive network is reduced in global developmental delay, whereas the nodal strength of the language network is reduced in speech delay. This finding resulted in a high accuracy of >83% ± 4% to discriminate global developmental delay from speech delay. The network abnormalities identified in the present study may underlie the neurocognitive and behavioral consequences commonly identified in children with global developmental delay and speech delay. Further validation studies in larger samples are required. © 2016 by American Journal of Neuroradiology.
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Schmidt, H; Kern, W; Giese, R; Hallschmid, M; Enders, A
2009-04-01
The 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome. We performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. Short-term (during the first 6 weeks) and long-term effects (after 12 months of treatment) on motor skills, cognitive functions, or autonomous functions, speech and communication, emotional state, social behaviour, behavioural disorders, independence in daily living and education were assessed. The children showed marked short-term improvements in gross and fine motor activities, cognitive functions and educational level. Positive long-term effects were found for fine and gross motor activities, nonverbal communication, cognitive functions and autonomy. Possible side effects were found in one patient who displayed changes in balance, extreme sensitivity to touch and general loss of interest. One patient complained of intermittent nose bleeding. We conclude that long-term administration of intranasal insulin may benefit motor development, cognitive functions and spontaneous activity in children with 22q13 deletion syndrome.
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Pebrel-Richard, Céline; Debost-Legrand, Anne; Eymard-Pierre, Eléonore; Greze, Victoria; Kemeny, Stéphan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Vago, Philippe; Goumy, Carole; Francannet, Christine
2014-03-01
With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (∼29.5 to ∼30.1 Mb; Hg18) and the 220-kb distal deletion (∼28.74 to ∼28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders.
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Pebrel-Richard, Céline; Debost-Legrand, Anne; Eymard-Pierre, Eléonore; Greze, Victoria; Kemeny, Stéphan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Vago, Philippe; Goumy, Carole; Francannet, Christine
2014-01-01
With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (∼29.5 to ∼30.1 Mb; Hg18) and the 220-kb distal deletion (∼28.74 to ∼28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders. PMID:23860047
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ERIC Educational Resources Information Center
Scahill, Lawrence; McDougle, Christopher J.; Aman, Michael G.; Johnson, Cynthia; Handen, Benjamin; Bearss, Karen; Dziura, James; Butter, Eric; Swiezy, Naomi G.; Arnold, L. Eugene; Stigler, Kimberly A.; Sukhodolsky, Denis D.; Lecavalier, Luc; Pozdol, Stacie L.; Nikolov, Roumen; Hollway, Jill A.; Korzekwa, Patricia; Gavaletz, Allison; Kohn, Arlene E.; Koenig, Kathleen; Grinnon, Stacie; Mulick, James A.; Yu, Sunkyung; Vitiello, Benedetto
2012-01-01
Objective: Children with Pervasive Developmental Disorders (PDDs) have social interaction deficits, delayed communication, and repetitive behaviors as well as impairments in adaptive functioning. Many children actually show a decline in adaptive skills compared with age mates over time. Method: This 24-week, three-site, controlled clinical trial…
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Powis, Z; Petrik, I; Cohen, J S; Escolar, D; Burton, J; van Ravenswaaij-Arts, C M A; Sival, D A; Stegmann, A P A; Kleefstra, T; Pfundt, R; Chikarmane, R; Begtrup, A; Huether, R; Tang, S; Shinde, D N
2018-05-01
Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. KLF7 has been proposed to be a candidate gene for the phenotype of autism features seen in patients with a 2q33.3q34 deletion. Herein, we report 4 unrelated individuals with de novo KLF7 missense variants who share similar clinical features of developmental delay/ID, hypotonia, feeding/swallowing issues, psychiatric features and neuromuscular symptoms, and add to the knowledge about the phenotypic spectrum associated with KLF7 haploinsufficiency. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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Development in children with achondroplasia: a prospective clinical cohort study.
Ireland, Penelope J; Donaghey, Samantha; McGill, James; Zankl, Andreas; Ware, Robert S; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; Johnston, Leanne M
2012-06-01
Achondroplasia is characterized by delays in the development of communication and motor skills. While previously reported developmental profiles exist across gross motor, fine motor, feeding, and communication skills, there has been no prospective study of development across multiple areas simultaneously. This Australasian population-based study utilized a prospective questionnaire to quantify developmental data for skills in children born from 2000 to 2009. Forty-eight families from Australia and New Zealand were asked to report every 3 months on their child's attainment of 41 milestones. Results include reference to previously available prospective information. Information from questionnaires was used to develop an achondroplasia-specific developmental recording form. The 25th, 50th, 75th, and 90th centiles were plotted to offer clear guidelines for development across gross motor, fine motor, feeding, and communication skills in children with achondroplasia. Consistent with results from previous research, children with achondroplasia are delayed in development of gross motor and ambulatory skills. Young children with achondroplasia demonstrate a number of unique movement strategies that appear compensatory for the biomechanical changes. While delays were seen in development of later communication items, there were fewer delays seen across development of early communication, fine motor, and feeding skills. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
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Global developmental delay and mental retardation--a pediatric perspective.
Tirosh, Emanuel; Jaffe, Michael
2011-01-01
Pediatricians play a leading role in the detection, diagnosis, and management of children with global developmental delay (GDD) and mental retardation (MR). Assessment, investigation, and consultation with the family are the prime responsibility of the developmental pediatrician, in collaboration with a multidisciplinary team. The model used by the developmental pediatrician depends on the community health framework. Significant progress has been recently achieved in identifying underlying etiologies, using a variety of laboratory tests including neuroimaging and genetic and metabolic investigations. Although being used to achieve an acceptable yield, this progress in diagnostic investigations should be associated with proper weighing of the value of each test to the diagnostic process. Optimal utilization of this rapidly expanding knowledge can only be accomplished in the setting of in-depth clinical evaluation, including a thoughtful assessment of the child and family needs. In this article, the literature on the process of clinical evaluation and laboratory work-up of the child with GDD/MR is reviewed, with an emphasis on a multidisciplinary team approach to the child and family needs. An integrated model used by the developmental pediatrician that relates to the process of evaluation and management as well as the consequences of the diagnosis on the child, his/her family, and the community is suggested. Copyright © 2013 Wiley Periodicals, Inc.
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Homozygous variegate porphyria presenting with developmental and language delay in childhood.
Pinder, V A E; Holden, S T; Deshpande, C; Siddiqui, A; Mellerio, J E; Wraige, E; Powell, A M
2013-10-01
Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene (PPOX). A rarer variant, homozygous variegate porphyria (HVP), presents in childhood with recurrent skin blisters and scarring. More variable features of HVP are short stature, brachydactyly, nystagmus, epilepsy, developmental delay and mental retardation. We describe a child who presented with nystagmus, developmental delay and ataxia, combined with a photosensitive eruption. Analysis of porphyrins in plasma, urine and stool supported a clinical diagnosis of HVP. DNA from the patient showed that he is compound heterozygous for two novel missense mutations in the PPOX coding region: c.169G>C (p.Gly57Arg) and c.1259C>G (Pro420Arg). Interestingly, cranial magnetic resonance imaging showed an absence of myelin, a feature not previously reported in HVP, which expands the differential diagnosis of childhood hypomyelinating leucoencephalopathies. © 2013 British Association of Dermatologists.
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Mother-Child Interaction and Resilience in Children with Early Developmental Risk
Fenning, Rachel M.; Baker, Jason K.
2014-01-01
Although prenatal and genetic factors make strong contributions to the emergence of intellectual disability (ID), children's early environment may have the potential to alter developmental trajectories and to foster resilience in children with early risk. The present study examined mother-child interaction and the promotion of competence in 50 children with early developmental delays. Three related but distinct aspects of mother-child interaction were considered: maternal technical scaffolding, maternal positive-sensitivity, and mother-child dyadic pleasure. Children were classified as exhibiting undifferentiated delays at age three based upon performance on developmental assessments and the absence of known genetic syndromes. Mother-child interaction was assessed at age four through observational ratings of structured laboratory tasks and through naturalistic home observations. ID was identified at age five using the dual criteria of clinically significant delays in cognitive functioning and adaptive behavior. Maternal technical scaffolding and dyadic pleasure each uniquely predicted reduced likelihood of later ID, beyond the contributions of children's early developmental level and behavioral functioning. Follow-up analyses suggested that mother-child interaction was primarily important to resilience in the area of adaptive behavior, with scaffolding and dyadic pleasure differentially associated with particular sub-domains. Implications for theories of intellectual disability and for family-based early intervention and prevention efforts are discussed. PMID:22662771
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Kapornai, Krisztina; Gentzler, Amy L; Tepper, Ping; Kiss, Eniko; Mayer, László; Tamás, Zsuzsanna; Kovacs, Maria; Vetró, Agnes
2007-06-01
We investigate the relations of early atypical characteristics (perinatal problems, developmental delay, and difficult temperament) and onset-age (as well as severity of) first major depressive disorder (MDD) and first internalizing disorder in a clinical sample of depressed children in Hungary. Participants were 371 children (ages 7-14) with MDD, and their biological mothers, recruited through multiple clinical sites. Diagnoses (via DSM-IV criteria) and onset dates of disorders were finalized "best estimate" psychiatrists, and based on multiple information sources. Mothers provided developmental data in a structured interview. Difficult temperament predicted earlier onset of MDD and first internalizing disorder, but its effect was ameliorated if the family was intact during early childhood. Further, the importance of difficult temperament decreased as a function of time. Perinatal problems and developmental delay did not impact onset ages of disorders, and none of the early childhood characteristics associated with MDD episode severity. Children with MDD may have added disadvantage of earlier onset if they had a difficult temperament in infancy. Because early temperament mirrors physiological reactivity and regulatory capacity, it can affect various areas of functioning related to psychopathology. Early caregiver stability may attenuate some adverse effects of difficult infant temperament.
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ERIC Educational Resources Information Center
Holtz, Casey A.; Carrasco, Jennifer M.; Mattek, Ryan J.; Fox, Robert A.
2009-01-01
The purpose of this study is to examine the effectiveness of an in-home parent management program for toddlers with behavior problems and developmental delays by comparing outcomes for a group of toddlers with developmental delays (n = 27) and a group of toddlers without developmental delays (n = 27). The majority of children lived in single…
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Clarke, Nigel F; Andrews, Ian; Carpenter, Kevin; Jakobs, Cornelis; van der Knaap, Marjo S; Kirk, Edwin P
2003-08-01
D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness, and profound developmental delay, or a mild course characterized by mild developmental delay, manageable epilepsy, and mild hypotonia. To date there has been a clear distinction between these two groups. We report the second case of a child with D2HGA who has followed an intermediate course. She presented in infancy with hypotonia, manageable epilepsy and developed moderate to severe developmental delay, and cortical visual impairment. The proposita had a coarse facial appearance, flat face, broad nasal bridge, up-turned nose, and simple, anteverted ears. These facial anomalies have been noted in other children with D2HGA and this case strengthens the proposed association between this facial phenotype and D2HGA. We also report the third and fourth instances of prenatal diagnosis for D2HGA. At each prenatal diagnosis, an affected fetus was diagnosed on the basis of markedly increased levels of D-2-hydroxyglutaric acid in amniotic fluid. Copyright 2003 Wiley-Liss, Inc.
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Toddler Developmental Delays After Extensive Hospitalization: Primary Care Practitioner Guidelines.
Lehner, Dana C; Sadler, Lois S
2015-01-01
This review investigated developmental delays toddlers may encounter after a lengthy pediatric hospitalization (30 days or greater). Physical, motor, cognitive, and psychosocial development of children aged 1 to 3 years was reviewed to raise awareness of factors associated with developmental delay after extensive hospitalization. Findings from the literature suggest that neonatal and pediatric intensive care unit (NICU/PICU) graduates are most at risk for developmental delays, but even non-critical hospital stays interrupt development to some extent. Primary care practitioners (PCPs) may be able to minimize risk for delays through the use of formal developmental screening tests and parent report surveys. References and resources are described for developmental assessment to help clinicians recognize delays and to educate families about optimal toddler development interventions. Pediatric PCPs play a leading role in coordinating health and developmental services for the young child following an extensive hospital stay.
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ERIC Educational Resources Information Center
Provost, Beth; Lopez, Brian R.; Heimerl, Sandra
2007-01-01
This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns…
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2013-01-01
Background Anecdotal evidence suggests that low-income preschoolers with developmental delays are at increased risk for dental caries and poor oral health, but there are no published studies based on empirical data. The purpose of this pilot study was two-fold: to examine the relationship between developmental delays and dental caries in low-income preschoolers and to present a preliminary explanatory model on the determinants of caries for enrollees in Head Start, a U.S. school readiness program for low-income preschool-aged children. Methods Data were collected on preschoolers ages 3–5 years at two Head Start centers in Washington, USA (N = 115). The predictor variable was developmental delay status (no/yes). The outcome variable was the prevalence of decayed, missing, and filled surfaces (dmfs) on primary teeth. We used multiple variable Poisson regression models to test the hypothesis that within a population of low-income preschoolers, those with developmental delays would have increased dmfs prevalence than those without developmental delays. Results Seventeen percent of preschoolers had a developmental delay and 51.3% of preschoolers had ≥1 dmfs. Preschoolers with developmental delays had a dmfs prevalence ratio that was 1.26 times as high as preschoolers without developmental delays (95% CI: 1.01, 1.58; P < .04). Other factors associated with increased dmfs prevalence ratios included: not having a dental home (P = .01); low caregiver education (P < .001); and living in a non-fluoridated community (P < .001). Conclusions Our pilot data suggest that developmental delays among low-income preschoolers are associated with increased primary tooth dmfs. Additional research is needed to further examine this relationship. Future interventions and policies should focus on caries prevention strategies within settings like Head Start classrooms that serve low-income preschool-aged children with additional targeted home- and community-based interventions for those with developmental delays. PMID:24119240
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ERIC Educational Resources Information Center
Yang, P.; Jong, Y-J.; Hsu, H-Y.; Lung, F-W.
2011-01-01
Background: As part of an ongoing clinical service programme for pre-school children with developmental delay in an Asian developing country, we analysed the effect of three assessment tests, that is, Bayley Scale of Infant Development-II, Leiter International Performance Scale-Revised and Wechsler Preschool and Primary Scale of…
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Maldžienė, Živilė; Preikšaitienė, Eglė; Ignotienė, Salomėja; Kapitanova, Natalija; Utkus, Algirdas; Kučinskas, Vaidutis
2017-01-01
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements. Elucidation of the exact genetic cause of ARS is important for comprehensive genetic counseling of the family members and for better patient management. © 2017 S. Karger AG, Basel.
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Khaikin, Yannay; Sidky, Sarah; Abdenur, Jose; Anastasi, Arnaud; Ballhausen, Diana; Buoni, Sabrina; Chan, Alicia; Cheillan, David; Dorison, Nathalie; Goldenberg, Alice; Goldstein, Jennifer; Hofstede, Floris C; Jacquemont, Marie-Line; Koeberl, Dwight D; Lion-Francois, Laurence; Lund, Allan Meldgaard; Mention, Karine; Mundy, Helen; O'Rourke, Declan; Pitelet, Gaele; Raspall-Chaure, Miquel; Tassini, Maria; Billette de Villemeur, Thierry; Williams, Monique; Salomons, Gajja S; Mercimek-Andrews, Saadet
2018-05-01
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome. Physicians completed an online REDCap questionnaire. Clinical severity score applied pre-treatment and on treatment. There were 22 patients. All had developmental delay, 18 had seizures and 8 had movement disorder. Based on the clinical severity score, 5 patients had a severe, 14 patients had a moderate and 3 patients had a mild phenotype. All patients had pathogenic variants in GAMT. The phenotype ranged from mild to moderate in patients with the most common c.327G > A variant. The phenotype ranged from mild to severe in patients with truncating variants. All patients were on creatine, 18 patients were on ornithine and 15 patients were on arginine- or protein-restricted diet. Clinical severity score improved in 13 patients on treatment. Developmental delay improved in five patients. One patient achieved normal development. Eleven patients became seizure free. Movement disorder resolved in four patients. In our small patient cohort, there seems to be no phenotype-genotype correlation. Creatine and ornithine and/or arginine- or protein-restricted diet were the most useful treatment to improve phenotype. Crown Copyright © 2018. Published by Elsevier Ltd. All rights reserved.
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Neonatal morbidities and developmental delay in moderately preterm-born children.
Kerstjens, Jorien M; Bocca-Tjeertes, Inger F; de Winter, Andrea F; Reijneveld, Sijmen A; Bos, Arend F
2012-08-01
Children born moderately preterm (32-35(6/7) weeks' gestation) are at increased risk of both neonatal morbidities and developmental delays in early childhood. It is unknown whether neonatal morbidities contribute to the increased risk of developmental delay. The objective of this study was to determine the effect of neonatal morbidities after moderately preterm birth on development at preschool age. In a community-based, stratified cohort, parents of 832 moderately preterm children born in 2002 or 2003 completed the Ages and Stage Questionnaire when their child was 43 to 49 months old. Data on Apgar scores, asphyxia, tertiary NICU admission, hospital transfer, circulatory insufficiency, hypoglycemia, septicemia, mechanical ventilation, continuous positive airway pressure, apneas, caffeine treatment, and hyperbilirubinemia were obtained from medical records. We assessed associations of neonatal characteristics with developmental delay, adjusted for gender, small-for-gestational-age status, gestational age, and maternal education. Hypoglycemia and asphyxia were associated with developmental delay; odds ratios (ORs) were 2.42 (95% confidence interval [CI]: 1.23-4.77) and 3.18 (95% CI: 1.01-10.0), respectively. Tertiary NICU admission and hyperbilirubinemia had positive but statistically borderline nonsignificant associations with developmental delay: ORs were 1.74 (95% CI: 0.96-3.15) and 1.52 (95% CI: 0.94-2.46), respectively. No other neonatal morbidities were associated with developmental delay. In multivariate analyses, only hypoglycemia was associated with developmental delay (OR: 2.19; 95% CI: 1.08-4.46). In moderately preterm-born children, only hypoglycemia increased the risk of developmental delay at preschool age. A concerted effort to prevent hypoglycemia might enhance developmental outcome in this group.
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Nair, M K C; Krishnan, Rajee; Harikumaran Nair, G S; George, Babu; Bhaskaran, Deepa; Leena, M L; Russell, Paul Swamidhas Sudhakar
2014-12-01
To describe CDC Kerala experience of establishing an at-risk baby clinic and the comparison of different developmental screening tools at 12 mo against the gold standard Developmental Assessment Scale for Indian Infants (DASII). At risk baby clinic of CDC, Kerala was established as a facility for follow up of NICU graduates from Sree Avittam Thirunal Hospital at 2, 4, 6, 8 and 12 mo corrected age and during each visit the mother is taught the CDC model early stimulation by developmental therapists and encouraged to continue to do the same at home. At 12 mo, assessment results of four simple developmental tools were compared with the gold standard DASII administered by a senior developmental therapist. Out of a total of 800 babies, outcome measurements at 12 mo were available for 604 infants. The prevalence of developmental delay using the screening tools, CDC grading for standing, Amiel Tison angles and DDST II (Denver II) gross motor were 24.8, 24 and 24.3% respectively and using DASII, a diagnostic tool (13.3%). Also the combination of Amiel Tison angles, CDC standing grading and DDST gross motor against DASII motor DQ had high specificity (94.15%) and negative predictive value (NPV) (70.18%) but with a very low sensitivity of 14.58% and low positive predictive value (PPV) of 53.85%. It was observed that a significant odds ratio for DASII mental deviation quotient (DQ) was seen for neonatal seizures (2.34) and low birth weight (1.49). The prevalence of developmental delay using the screening tools, CDC grading for standing, Amiel Tison angles and DDST II (Denver II) gross motor were 24.8, 24 and 24.3% respectively and together they had a high specificity, NPV and accuracy against DASII motor DQ as gold standard at one year assessment.
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[Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations].
Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro
2015-01-01
To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990 s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.
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Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations
Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro
2015-01-01
OBJECTIVE: To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. DATA SOURCE: A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords: NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. DATA SYNTHESIS: Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. CONCLUSIONS: Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. PMID:25662016
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GUL, HESNA; EROL, NESE; AKIN, DUYGU PAMIR; GULLU, BELGİN USTUN; AKCAKİN, MELDA; ALPAS, BAŞAK; ÖNER, ÖZGÜR
2016-01-01
Emotional availability (EA) is a method to assess early parent–child dyadic interactions for emotional awareness, perception, experience, and expression between child and parent that describe global relational quality (Z. Biringen & M. Easterbrooks, 2012). The current study aimed to examine the effects of an infant’s diagnosis of autism spectrum disorders (ASDs), other psychiatric disorders (OPD), and developmental delay (DD) on the maternal EA Scale (EAS; Z. Biringen & M. Easterbrooks, 2012; Z. Biringen, J.L. Robinson, & R.N. Emde, 2000) scores and the relative contributions of infant’s age, gender, diagnosis, developmental level, and maternal education on EAS scores in a clinical Turkish sample. Three hundred forty-five infant–mother dyads participated in this study. Results of the research indicated that EAS adult scores were associated with maternal education and infant’s diagnosis whereas child scores were associated with infant’s age, diagnosis, and developmental level. Infants’ involvement and responsiveness to the mother were lower in the group with ASD. Children with OPD, particularly when their mothers have lower education, might be at increased risk of having problems in parent–child interactions. Young ASD subjects with developmental delay are in greatest need of support to increase reactions toward their mother. These findings underscore the importance of using all of the EA dimensions rather than only one measure on children in high-risk populations. PMID:26891759
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NASA Astrophysics Data System (ADS)
Hsueh, Yu-Mei; Chen, Wei-Jen; Lee, Chih-Ying; Chien, Ssu-Ning; Shiue, Horng-Sheng; Huang, Shiau-Rung; Lin, Ming-I.; Mu, Shu-Chi; Hsieh, Ru-Lan
2016-11-01
This case-control study identified the association between the arsenic methylation capacity and developmental delays and explored the association of this capacity with the health status of children. We recruited 120 children with developmental delays and 120 age- and sex-matched children without developmental delays. The health status of the children was assessed using the Pediatric Quality of Life Inventory (PedsQL) and Pediatric Outcomes Data Collection Instrument (PODCI). The arsenic methylation capacity was determined by the percentages of inorganic arsenic (InAs%), monomethylarsonic acid (MMAV%), and dimethylarsinic acid (DMAV%) through liquid chromatography and hydride generation atomic absorption spectrometry. Developmental delays were significantly positively associated with the total urinary arsenic concentration, InAs%, and MMAV%, and was significantly negatively associated with DMAV% in a dose-dependent manner. MMAV% was negatively associated with the health-related quality of life (HRQOL; -1.19 to -1.46, P < 0.01) and functional performance (-0.82 to -1.14, P < 0.01), whereas DMAV% was positively associated with HRQOL (0.33-0.35, P < 0.05) and functional performance (0.21-0.39, P < 0.01-0.05) in all children and in those with developmental delays. The arsenic methylation capacity is dose-dependently associated with developmental delays and with the health status of children, particularly those with developmental delays.
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ERIC Educational Resources Information Center
Bernheimer, Lucinda P.; Keogh, Barbara K.; Guthrie, Donald
2006-01-01
We report on a 20-year follow-up of 30 children with developmental delays identified at age 3. Our purpose was to assess the relationship of early indicators of delay to cognitive and personal-social status in young adulthood. Predictors were Developmental and Personal-Social factors derived from standardized tests and parent questionnaires…
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Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming
2016-01-01
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.
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Neurobehavioral development in Joubert syndrome.
Gitten, J; Dede, D; Fennell, E; Quisling, R; Maria, B L
1998-08-01
Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date. Thirty-two parents of children with Joubert syndrome completed the Child Development Inventory and magnetic resonance imaging (MRI) data was gathered on 17 of these children. Results indicate that 94% were severely impaired according to the Child Development Inventory, with age being positively correlated with degree of neurobehavioral impairment. The average developmental age of our sample was 19 months (63% below chronological age). Severity of illness as measured by the General Development scale of the Child Development Inventory and severity of illness as measured by MRI (overall severity rating) did not yield consistent data regarding severity of the midbrain and cerebellar malformations. Similarly, markers of abnormal cerebral development such as cortical atrophy and delayed myelination were independent of severity of illness ratings on the Child Development Inventory. The degree of developmental delay in Joubert syndrome and the severity of gross central nervous system malformations appear independent.
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Muthusamy, Karthik; Thomas, Maya Mary; George, Renu Elizabeth; Alexander, Mathew; Mani, Sunithi; Benjamin, Rohit N
2014-01-01
Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. Here, we describe the clinical and imaging features in two siblings with fucosidosis. An 8-year-old girl presented with global developmental delay, followed by regression of acquired milestones from 3 years of age with bipyramidal, extrapyramidal involvement, coarse facies, telangiectatic lesions, dysostosis multiplex, characteristic magnetic resonance imaging finding along with undetectable levels of the fucosidase activity, which confirmed the diagnosis. Younger sibling has mild developmental delay with autistic traits with no neuroregression until now. He also has undetectable level of fucosidase enzyme activity and is being considered for stem cell transplantation. New case reports would expand the clinical spectrum, early diagnosis and help formulating appropriate therapy. Early diagnosis is crucial and hence sibling screening can be done, and those in the presymptomatic stage can undergo hematopoietic stem cell transplantation, which is potentially curable. PMID:25250075
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Tseng, Yen-Cheng; Guo, How-Ran; Lai, Der-Chung
2016-01-01
With globalization, transnational marriages become more and more common around the world. Children born to immigrant mothers might be more likely to have developmental delays, but studies on this topic are limited and with inconsistent results. To determine whether children born to immigrant mothers are more likely to have developmental delays. We analyzed the data from the national registry of children with developmental delays from 2009 to 2013 and compared the incidence of developmental delays between children born to immigrant mothers and native mothers. We also performed stratified analyses by age, sex, and geographic area. From 2009 to 2013, 78,946 new cases of developmental delays under 6 years of age were registered, including 5619 (7.1%) born to immigrant mothers. The incidence was higher in children born to native mothers in every year with rate ratios ranging from 1.32 to 1.48, and the differences reached statistical significance even after stratification by age, sex, and geographic area. Children born to immigrant mothers had lower incidence of developmental delays in Taiwan. The result may help reduce the discrimination of foreign spouses and their children. Copyright © 2016 Elsevier Ltd. All rights reserved.
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Lee, Sun Ho; Song, Wung Joo
2017-09-01
Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.
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Impact of bilirubin-induced neurologic dysfunction on neurodevelopmental outcomes
Loe, Irene M.
2015-01-01
Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and th neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism. PMID:25585889
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Lin, Jin-Ding; Yen, Chia-Feng; Wu, Jia-Ling; Kang, Shih-Wan
2009-01-01
This paper was a population study with developmental delays and it included an examination of the trends the overtime change trend and reported channels of this group of people in Taiwan. We analyzed data for the present study mainly from the Department of Statistics, Ministry of the Interiors, Taipei, Taiwan: "Number of early intervention for children with developmental delays in Taiwan" from 2003 through 2007. The reported number of children with developmental delays slightly increased from 13,231 to 14,250 (increase rate=7.7%) from the year of 2003 through 2007 in Taiwan. More than one-half of children with developmental delays were reported during the age 3-5 years. Aged 0-2 group has the highest increasing reported numbers in the previous 5 years which changed dramatically increased from 4139 (31.3%) in 2003 to 6201 (43.5%) in 2007 (increase rate=49.8%). The medical care setting was the main reported channel of the children with developmental delays and the results also showed that the reported prevalence of the aged 0-2 developmentally delayed children was 57.4-102.2 per 10,000 children; aged 3-5 was 79.0-105.1 per 10,000 children from the year 2003-2007 in Taiwan. The present concluded that early intervention based on the precise affected population would provide important supports for families of children with developmental delays. Therefore, the health care system should be strengthened to increase the proportion of children identified at the earlier age and to decrease the variability in the age at identification for most of the conditions of children with developmental delays.
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Lee, Cha Gon; Park, Sang-Jin; Yun, Jun-No; Ko, Jung Min; Kim, Hyon-Ju; Yim, Shin-Young; Sohn, Young Bae
2013-11-01
This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. A total of 190 patients were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
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Ros, Rosmary; Hernandez, Jennifer; Graziano, Paulo A.; Bagner, Daniel M.
2015-01-01
This study investigated the extent to which parental homework completion during behavioral parent training (BPT) for children with or at risk for developmental delay contributed to parenting and child outcomes. Parents of 48 children (Mage = 44.17 months, SD = 14.29; 73% male; 72% White) with developmental delay (IQ < 75) or at risk for developmental delay (due to premature birth) with co-occurring clinically elevated externalizing behavior problems received Parent-Child Interaction Therapy (PCIT) as part of two previously completed randomized controlled trials. Parental homework completion was measured using parental report of home practice of treatment skills collected weekly by therapists. Parents also reported on child externalizing behavior problems and levels of parenting stress, while parenting skills were observed during a 5-min child directed play and child compliance was observed during a 5-min cleanup situation. Results indicated that higher rates of parental homework completion predicted parenting outcomes (i.e., increased positive parenting skills and decreased levels of parenting stress) and child outcomes (i.e., lower levels of externalizing behavior problems). Additionally, although limited by temporal precedence, there was an indirect effect of reductions in parenting stress on the negative association between parental homework completion and child externalizing behavior problems. These findings highlight the importance of parents practicing skills learned during BPT for optimizing treatment outcome. Parenting stress was also identified as a potential mechanism by which high levels of parental homework completion contributed to reductions in child externalizing behavior problems. PMID:26763493
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Developmental outcomes in Malawian children with retinopathy-positive cerebral malaria.
Boivin, Michael J; Gladstone, Melissa J; Vokhiwa, Maclean; Birbeck, Gretchen L; Magen, Jed G; Page, Connie; Semrud-Clikeman, Margaret; Kauye, Felix; Taylor, Terrie E
2011-03-01
To assess children with retinopathy-positive cerebral malaria (CM) for neurocognitive sequelae. Participants were selected from an ongoing exposure-control study. Eighty-three Malawian children averaging 4.4 years of age and diagnosed with retinopathy-positive CM were compared to 95 controls. Each child was classified as delayed or not using age-based norms for the Malawi Developmental Assessment Tool (MDAT) for developmental delay on the total scale and for the domains of gross motor, fine motor, language and social skills. Groups were also compared on the Achenbach Child Behaviour Checklist (CBCL) (1.5-5 years). Children with retinopathy-positive CM were delayed, relative to the comparison group, on MDAT total development (P = 0.028; odds ratio or OR = 2.13), with the greatest effects on language development (P = 0.003; OR = 4.93). The two groups did not differ significantly on the Achenbach CBCL internalizing and externalizing symptoms total scores. Stepwise regression demonstrated that coma duration, seizures while in hospital, platelet count and lactate level on admission were predictive of assessment outcomes for the children with retinopathy-positive CM. Children who suffer retinopathy-positive CM at preschool age are at greater risk of developmental delay, particularly with respect to language development. This confirms previous retrospective study findings with school-age children evaluated years after acute illness. The MDAT and the Achenbach CBCL proved sensitive to clinical indicators of severity of malarial illness. © 2010 Blackwell Publishing Ltd.
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Correlation Between Mothers' Depression and Developmental Delay in Infants Aged 6-18 Months.
Vameghi, Roshanak; Amir Ali Akbari, Sedigheh; Sajjadi, Homeira; Sajedi, Firoozeh; Alavimajd, Hamid
2015-08-23
Regarding the importance of children's developmental status and various factors that delay their development, this study was conducted to examine the correlation between mothers' depression levels and the developmental delay in infants. This descriptive study was performed on 1053 mothers and their infants' age 6 to18 month-old in medical centers affiliated with Shahid Beheshti University of Medical Sciences, Iran, in 2014-2015. The participants were selected through multi-stage random sampling. The following instruments were used in this study: A demographic and obstetric specification questionnaire, infant specification questionnaire, the Beck Depression Inventory, and the Ages and Stages Questionnaire to determine the status of the children's development. The data were analyzed using SPSS19 software, Mann-Whitney; independent T-test and logistic-Regression tests were used. The results showed that 491 mothers (46.7%) suffered mild to extremely severe depression. The delay in infant development was 11.8%. The Mann-Whitney test showed a correlation between mothers' depression levels and developmental delay in infants (P=0.001). Moreover, there was a significant correlation between mothers' depression and developmental delays in gross-motor and problem-solving skills (P<0/05). In logistic model age of infants showed significant correlation with developmental delay (P=0.004 OR=1.07), but unwanted pregnancy, gender of infants, type of delivery and socioeconomic status had no correlation with developmental delay. Given the correlation between mothers' depression and infant development, it is recommended to screen mothers for depression in order to perform early interventions in developmental delay.
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DOE Office of Scientific and Technical Information (OSTI.GOV)
Hsieh, Ru-Lan
Inefficient arsenic methylation capacity has been associated with developmental delay in children. The present study was designed to explore whether polymorphisms and haplotypes of arsenic methyltransferase (AS3MT), glutathione-S-transferase omegas (GSTOs), and purine nucleoside phosphorylase (PNP) affect arsenic methylation capacity and developmental delay. A case-control study was conducted from August 2010 to March 2014. All participants were recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In total, 179 children with developmental delay and 88 children without delay were recruited. Urinary arsenic species, including arsenite (As{sup III}), arsenate (As{sup V}), monomethylarsonic acid (MMA{sup V}), and dimethylarsinic acid (DMA{sup V}) weremore » measured using a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. The polymorphisms of AS3MT, GSTO, and PNP were performed using the Sequenom MassARRAY platform with iPLEX Gold chemistry. Polymorphisms of AS3MT genes were found to affect susceptibility to developmental delay in children, but GSTO and PNP polymorphisms were not. Participants with AS3MT rs3740392 A/G + G/G genotype, compared with AS3MT rs3740392 A/A genotype, had a significantly lower secondary methylation index. This may result in an increased OR for developmental delay. Participants with the AS3MT high-risk haplotype had a significantly higher OR than those with AS3MT low-risk haplotypes [OR and 95% CI, 1.59 (1.08–2.34)]. This is the first study to show a joint dose-response effect of this AS3MT high-risk haplotype and inefficient arsenic methylation capacity on developmental delay. Our data provide evidence that AS3MT genes are related to developmental delay and may partially influence arsenic methylation capacity. - Highlights: • AS3MT genotypes were found to affect susceptibility to developmental delay. • AS3MT rs3740392 A/G and G/G genotype had a significantly low SMI (DMA/MMA) index. • AS3MT high-risk haplotype was significantly associated with developmental delay.« less
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Spofford, Lisa; Dimian, Adele; Tervo, Raymond; MacLean, William E.; Symons, Frank J.
2016-01-01
Objective To compare the prevalence of self-injurious behavior (SIB) and stereotyped motor behavior (STY) of preschool-aged children with developmental delays (DD group) and their peers without developmental delays (TD group) using a standardized caregiver report scale. Methods The Repetitive Behavior Scale-Revised was completed by caregivers of children with developmental delays and their peers without developmental delays. Frequency of occurrence and severity ratings for SIB and STY were compared between groups. Results SIB and STY were reported more often and at a greater level of severity in the DD group. Older chronological age was associated with more severe STY in the DD group but not the TD group. Gender was not related to STY or SIB for either group. Conclusions Differences in STY and SIB were evident between preschoolers with and without DD. Findings are discussed from developmental and behavioral psychology perspectives regarding the expression of repetitive behavior in developmentally at-risk pediatric populations. PMID:26514642
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Hamdani, S U; Akhtar, P; Zill-E-Huma; Nazir, H; Minhas, F A; Sikander, S; Wang, D; Servilli, C; Rahman, A
2017-01-01
Development disorders and delays are recognised as a public health priority and included in the WHO mental health gap action programme (mhGAP). Parents Skills Training (PST) is recommended as a key intervention for such conditions under the WHO mhGAP intervention guide. However, sustainable and scalable delivery of such evidence based interventions remains a challenge. This study aims to evaluate the effectiveness and scaled-up implementation of locally adapted WHO PST programme delivered by family volunteers in rural Pakistan. The study is a two arm single-blind effectiveness implementation-hybrid cluster randomised controlled trial. WHO PST programme will be delivered by 'family volunteers' to the caregivers of children with developmental disorders and delays in community-based settings. The intervention consists of the WHO PST along with the WHO mhGAP intervention for developmental disorders adapted for delivery using the android application on a tablet device. A total of 540 parent-child dyads will be recruited from 30 clusters. The primary outcome is child's functioning, measured by WHO Disability Assessment Schedule - child version (WHODAS-Child) at 6 months post intervention. Secondary outcomes include children's social communication and joint engagement with their caregiver, social emotional well-being, parental health related quality of life, family empowerment and stigmatizing experiences. Mixed method will be used to collect data on implementation outcomes. Trial has been retrospectively registered at ClinicalTrials.gov (NCT02792894). This study addresses implementation challenges in the real world by incorporating evidence-based intervention strategies with social, technological and business innovations. If proven effective, the study will contribute to scaled-up implementation of evidence-based packages for public mental health in low resource settings. Registered with ClinicalTrials.gov as Family Networks (FaNs) for Children with Developmental Disorders and Delays. Identifier: NCT02792894 Registered on 6 July 2016.
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Sleep Problems and Early Developmental Delay: Implications for Early Intervention Programs
ERIC Educational Resources Information Center
Bonuck, Karen; Grant, Roy
2012-01-01
Sleep disorders negatively impact behavior, cognition, and growth--the same areas targeted by early intervention. Conversely, developmental delays and disabilities may themselves precipitate sleep disorders. Young children with developmental delays experience sleep disorders at a higher rate than do typically developing children; the most common…
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Delaying Developmental Mathematics: The Characteristics and Costs
ERIC Educational Resources Information Center
Johnson, Marianne; Kuennen, Eric
2004-01-01
This paper investigates which students delay taking a required developmental mathematics course and the impact of delay on student performance in introductory microeconomics. Analysis of a sample of 1462 students at a large Midwestern university revealed that, although developmental-level mathematics students did not reach the same level of…
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Steinfeld, Hallie; Cho, Megan T; Retterer, Kyle; Person, Rick; Schaefer, G Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G; van Gassen, Koen L I; Terhal, P A; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A; Monaghan, Kristin G; Henderson, Lindsay B; Chung, Wendy K
2016-07-01
Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay.
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Could head circumference be used to screen for autism in young males with developmental delay?
Gray, Kylie M; Taffe, John; Sweeney, Deborah J; Forster, Sheridan; Tonge, Bruce J
2012-04-01
Research has suggested an abnormal acceleration in head circumference growth in children with autism within the first 12 months of life. This study aimed to examine head circumference at birth and head circumference growth rates in young children with autism and developmental delay, and young children with developmental delay without autism. This study assessed head circumference at birth and rate of change in head circumference in young children with autism (n=86) and children with developmental delay without autism (n=40). For both groups of children, head circumference at birth and head circumference growth were compared with Centers for Disease Control normative data. No differences were found between the group of children with autism and developmental delay compared with the group with developmental delay only. However, when the sample was compared with a range of selected Centers for Disease Control normative medians, the children with autism were found to have significantly smaller head circumferences at birth and significantly larger head circumference at 18.5 months of age. These results are discussed in relation to the potential of accelerated head circumference growth as an early marker for autism. This study failed to find a difference in the head circumferences of children with autism and developmental delay and children with developmental delay only, thus suggesting that head circumference measurement has limited value as an early marker for autism. © 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
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Impact of bilirubin-induced neurologic dysfunction on neurodevelopmental outcomes.
Wusthoff, Courtney J; Loe, Irene M
2015-02-01
Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and the neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism. Copyright © 2014 Elsevier Ltd. All rights reserved.
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Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports
Cohen-Ophir, Michal; Castel-Deutsh, Tsophia; Tirosh, Emanuel
2012-01-01
Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry. PMID:22937419
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Comprehensive evaluation of the child with intellectual disability or global developmental delays.
Moeschler, John B; Shevell, Michael
2014-09-01
Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed. Copyright © 2014 by the American Academy of Pediatrics.
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Exotropia in children with high hyperopia
Kassem, Iris S; Rubin, Steven E; Kodsi, Sylvia R
2012-01-01
Purpose To describe the clinical characteristics, treatment, and subsequent clinical course of children with exotropia and high hyperopia. Methods The medical records of 26 patients seen between 1990 and 2009 who had an exotropia and ≥4.00 D of hyperopia were retrospectively reviewed. We analyzed the clinical characteristics, treatments and subsequent alignment outcomes. Results A total of 26 patients between the ages of 2.5 months and 9 years were included. Of these, 15 had associated medical conditions or developmental delay. Of 22 patients with measured visual acuities, 19 had amblyopia (10 unilateral, 9 bilateral). None of the patients demonstrated fine stereoacuity. Twenty-three exotropic children were treated with spectacles; 15 were fully corrected, 10 of whose exotropia improved; 8 received partial correction of their hyperopia, 3 of whose exotropia improved. Six patients who presented with large, poorly controlled exotropia and did not improve with spectacle correction required strabismus surgery. Conclusions Children with high hyperopia and exotropia are likely to have developmental delay or other systemic diseases, amblyopia, and poor stereopsis. Treatment of high hyperopia in exotropic children with their full cycloplegic refraction can result in excellent alignment. PMID:23084380
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Sotos syndrome: a study of the diagnostic criteria and natural history.
Cole, T R; Hughes, H E
1994-01-01
Seventy-nine patients with a provisional diagnosis of Sotos syndrome were clinically assessed, and their photographs between the ages of 1 and 6 years evaluated. These photographs, together with photographs of first degree relatives, also at ages 1 to 6 years, were reviewed by four clinical geneticists. Forty-one probands (but no first degree relatives) were identified in whom the facial gestalt was thought to be characteristic of Sotos syndrome. Comparison of anthropometric measurements, bone age, and developmental delay in these 41 probands showed marked differences between them and the remaining 38 probands, and allowed the formulation of guidelines for the diagnosis of Sotos syndrome. Length was identified as the most significantly increased prenatal parameter. In childhood occipitofrontal head circumference (OFC), height, and weight were all increased. OFC remained above the 97th centile in all but one case throughout childhood and adulthood, whereas height and weight had a tendency to return towards the mean. This 'normalisation' was more pronounced in females and was probably related to their early puberty. Early developmental delay and an advanced bone age, seen in 100% and 84% respectively of study cases, may be invariable in Sotos syndrome, but selection bias and limited data prevented confirmation of this supposition. The authors suggest that facial gestalt, growth pattern, bone age, and developmental delay are the major diagnostic criteria. Using these criteria, no affected first degree relatives were identified. There were few long term medical complications in the probands, but behavioural difficulties caused considerable parental concern. Images PMID:7512144
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Refractive eye surgery in treating functional amblyopia in children.
Levenger, Samuel; Nemet, Pinhas; Hirsh, Ami; Kremer, Israel; Nemet, Arie
2006-01-01
While excimer laser refractive surgery is recommended and highly successful for correcting refractive errors in adults, its use in children has not been extensively exercised or studied. We report our experience treating children with amblyopia due to high anisometropia, high astigmatism, high myopia and with associated developmental delay. Review of patient records of our refractive clinic. A retrospective review was made of all 11 children with stable refractive errors who were unsuccessfully treated non-surgically and then underwent corneal refractive surgery and in one case, lenticular surgery. Seven had high myopic anisometropia, 2 had high astigmatism, and two had high myopia--one with Down's Syndrome and one with agenesis of the corpus callosum. The surgical refractive treatment eliminated or reduced the anisometropia, reduced the astigmatic error, improved vision and improved the daily function of the children with developmental delay. There were no complications or untoward results. Refractive surgery is safe and effective in treating children with high myopic anisometropia, high astigmatism, high myopia and developmental delay due to the resulting poor vision. Surgery can improve visual acuity in amblyopia not responding to routine treatment by correcting the refractive error and refractive aberrations.
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Ros, Rosmary; Hernandez, Jennifer; Graziano, Paulo A; Bagner, Daniel M
2016-01-01
This study investigated the extent to which parental homework completion during behavioral parent training (BPT) for children with or at risk for developmental delay contributed to parenting and child outcomes. Parents of 48 children (Mage=44.17 months, SD=14.29; 73% male; 72% White) with developmental delay (IQ<75) or at risk for developmental delay (due to premature birth) with co-occurring clinically elevated externalizing behavior problems received Parent-Child Interaction Therapy (PCIT) as part of two previously completed randomized controlled trials. Parental homework completion was measured using parental report of home practice of treatment skills collected weekly by therapists. Parents also reported on child externalizing behavior problems and levels of parenting stress, while parenting skills were observed during a 5-min child directed play and child compliance was observed during a 5-min cleanup situation. Results indicated that higher rates of parental homework completion predicted parenting outcomes (i.e., increased positive parenting skills and decreased levels of parenting stress) and child outcomes (i.e., lower levels of externalizing behavior problems). Additionally, although limited by temporal precedence, there was an indirect effect of reductions in parenting stress on the negative association between parental homework completion and child externalizing behavior problems. These findings highlight the importance of parents practicing skills learned during BPT for optimizing treatment outcome. Parenting stress was also identified as a potential mechanism by which high levels of parental homework completion contributed to reductions in child externalizing behavior problems. Copyright © 2015. Published by Elsevier Ltd.
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ERIC Educational Resources Information Center
Milne, Susan; McDonald, Jenny; Comino, Elizabeth J.
2012-01-01
In response to concerns that the Bayley Scales of Infant and Toddler Development III (BSIDIII) underestimate delay in clinical populations, this study explores developmental quotient scores as an alternative to composite scores for these children. One hundred and twenty-two children aged [less than or equal to] 42 months, referred for diagnosis of…
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Sansović, Ivona; Ivankov, Ana-Maria; Bobinec, Adriana; Kero, Mijana; Barišić, Ingeborg
2017-06-14
To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA. In 30 of 337 patients, chromosomal imbalances had previously been detected by classical cytogenetic and molecular cytogenetic methods. In 73 of 337 patients, clinically relevant variants were detected and better characterized. Most of them were >1 Mb. Variants of unknown clinical significance (VOUS) were discovered in 35 patients. The most common VOUS size category was <300 kb (40.5%). Deletions and de novo imbalances were more frequent in pathogenic CNV than in VOUS category. CMA had a high diagnostic yield of 43/307, excluding patients previously detected by other methods. CMA was valuable in establishing the diagnosis in a high proportion of patients. Criteria for classification and interpretation of CNVs include CNV size and type, mode of inheritance, and genotype-phenotype correlation. Agilent ISCA v2 Human Genome 8x60 K oligonucleotide microarray format proved to be reasonable resolution for clinical use, particularly in the regions that are recommended by the International Standard Cytogenomic Array (ISCA) Consortium and associated with well-established syndromes.
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The social context of parenting 3-year-old children with developmental delay in the UK.
Emerson, E; Graham, H; McCulloch, A; Blacher, J; Hatton, C; Llewellyn, G
2009-01-01
Children with intellectual or developmental disability have significantly poorer health and mental health than their non-disabled peers and are at high risk of social exclusion. The aim of the present paper is to provide information on the circumstances in which 3-year-old children at risk of intellectual or developmental disability are growing up in the UK. Secondary analysis of data on 12 689 families in English-speaking monolingual households from the first two waves of the UK's Millennium Cohort Study. A total of 440 children (3% of the weighted sample) were identified as being developmentally delayed. When compared with other children, children with developmental delays were more disadvantaged on every indicator of social and economic disadvantage examined. Two out of three children with developmental delays had been exposed to repeated disadvantage as measured by income poverty, material hardship, social housing and receipt of means-tested benefits. The effect of repeated disadvantage on the risk of developmental delay remained after account was taken of parental education and occupational status. Young children with delayed development in the UK are likely to be exposed to repeated socio-economic disadvantage. Implications for policy and understanding the nature of the link between poverty and child disability are discussed.
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Early childhood development in deprived urban settlements.
Nair, M K C; Radhakrishnan, S Rekha
2004-03-01
Poverty, the root cause of the existence of slums or settlement colonies in urban areas has a great impact on almost all aspects of life of the urban poor, especially the all-round development of children. Examples from countries, across the globe provide evidence of improved early child development, made possible through integrated slum improvement programs, are few in numbers. The observed 2.5% prevalence of developmental delay in the less than 2 year olds of deprived urban settlements, the presence of risk factors for developmental delay like low birth weight, birth asphyxia, coupled with poor environment of home and alternate child care services, highlights the need for simple cost effective community model for promoting early child development. This review on early child development focuses on the developmental status of children in the deprived urban settlements, who are yet to be on the priority list of Governments and international agencies working for the welfare of children, the contributory nature-nurture factors and replicable working models like infant stimulation, early detection of developmental delay in infancy itself, developmental screening of toddlers, skill assessment for preschool children, school readiness programs, identification of mental sub-normality and primary education enhancement program for primary school children. Further, the review probes feasible intervention strategies through community owned early child care and development facilities, utilizing existing programs like ICDS, Urban Basic Services and by initiating services like Development Friendly Well Baby Clinics, Community Extension services, Child Development Referral Units at district hospitals and involving trained manpower like anganwadi/creche workers, public health nurses and developmental therapists. With the decentralization process the local self-government at municipalities and city corporations are financially equipped to be the prime movers to initiate, monitor and promote early child development programs, to emerge as a part and parcel of community owned sustainable development process.
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ERIC Educational Resources Information Center
Bagner, Daniel M.; Graziano, Paulo A.
2013-01-01
The purpose of this study was to examine the effect of cumulative risk on dropout and treatment outcome in parent training. Participants were 44 families of young children (mean age of 49.59 months) who presented with elevated externalizing behavior problems and developmental delay or borderline developmental delay. All families were offered to…
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ERIC Educational Resources Information Center
Lai, Der-Chung; Tseng, Yen-Cheng; Guo, How-Ran
2011-01-01
Although developmental delays are not uncommon in children, the incidence is seldom assessed, and the reported prevalence varies widely. In Taiwan, the government mandates the reporting of suspected cases. Using the national registry data, we conducted a study to estimate the incidence and prevalence of developmental delays in young children in…
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ERIC Educational Resources Information Center
Branson, Diane; Bingham, Ann
2017-01-01
Despite the benefits of early intervention for children, the majority of children with developmental delays are not identified prior to the age of 5 years. Child care providers could aid in recognition of children at risk for developmental delays; however, there is little research on this topic. This article reports on a qualitative research study…
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ERIC Educational Resources Information Center
Marshall, Jennifer Tess
2013-01-01
The importance of early recognition and intervention for developmental delays is increasingly acknowledged, yet high rates of under-enrollment and 1-3 year delays in entry to the public early intervention system continue. Much research has examined developmental screening in health and child care settings, but less well understood is what prompts…
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Hsieh, Ru-Lan; Su, Chien-Tien; Shiue, Horng-Sheng; Chen, Wei-Jen; Huang, Shiau-Rung; Lin, Ying-Chin; Lin, Ming-I; Mu, Shu-Chi; Chen, Ray-Jade; Hsueh, Yu-Mei
2017-04-15
Inefficient arsenic methylation capacity has been associated with developmental delay in children. The present study was designed to explore whether polymorphisms and haplotypes of arsenic methyltransferase (AS3MT), glutathione-S-transferase omegas (GSTOs), and purine nucleoside phosphorylase (PNP) affect arsenic methylation capacity and developmental delay. A case-control study was conducted from August 2010 to March 2014. All participants were recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In total, 179 children with developmental delay and 88 children without delay were recruited. Urinary arsenic species, including arsenite (As III ), arsenate (As V ), monomethylarsonic acid (MMA V ), and dimethylarsinic acid (DMA V ) were measured using a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. The polymorphisms of AS3MT, GSTO, and PNP were performed using the Sequenom MassARRAY platform with iPLEX Gold chemistry. Polymorphisms of AS3MT genes were found to affect susceptibility to developmental delay in children, but GSTO and PNP polymorphisms were not. Participants with AS3MT rs3740392 A/G+G/G genotype, compared with AS3MT rs3740392 A/A genotype, had a significantly lower secondary methylation index. This may result in an increased OR for developmental delay. Participants with the AS3MT high-risk haplotype had a significantly higher OR than those with AS3MT low-risk haplotypes [OR and 95% CI, 1.59 (1.08-2.34)]. This is the first study to show a joint dose-response effect of this AS3MT high-risk haplotype and inefficient arsenic methylation capacity on developmental delay. Our data provide evidence that AS3MT genes are related to developmental delay and may partially influence arsenic methylation capacity. Copyright © 2017 Elsevier Inc. All rights reserved.
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Hoch, John; Spofford, Lisa; Dimian, Adele; Tervo, Raymond; MacLean, William E; Symons, Frank J
2016-06-01
To compare the prevalence of self-injurious behavior (SIB) and stereotyped motor behavior (STY) of preschool-aged children with developmental delays (DD group) and their peers without developmental delays (TD group) using a standardized caregiver report scale. The Repetitive Behavior Scale-Revised was completed by caregivers of children with developmental delays and their peers without developmental delays. Frequency of occurrence and severity ratings for SIB and STY were compared between groups. SIB and STY were reported more often and at a greater level of severity in the DD group. Older chronological age was associated with more severe STY in the DD group but not the TD group. Gender was not related to STY or SIB for either group. Differences in STY and SIB were evident between preschoolers with and without DD. Findings are discussed from developmental and behavioral psychology perspectives regarding the expression of repetitive behavior in developmentally at-risk pediatric populations. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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Peterson, Jennifer K
2018-06-01
Improved survival has led to increased recognition of developmental delays in infants and children with congenital heart disease. Risk factors for developmental delays in congenital heart disease survivors may not be modifiable; therefore, it is important that lifesaving, high-technology critical care interventions be combined with nursing interventions that are also developmentally supportive. Implementing developmental care in a pediatric cardiac intensive care unit requires change implementation strategies and widespread support from all levels of health care professionals. This manuscript reviews developmentally supportive interventions such as massage, developmentally supportive positioning, kangaroo care, cue-based feeding, effective pain/anxiety management, and procedural preparation and identifies strategies to implement developmentally supportive interventions in the care of infants and children with congenital heart disease. Improving developmental support for these infants and children at high risk for developmental delay may improve their outcomes and help promote family-centered care. ©2018 American Association of Critical-Care Nurses.
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Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy
2010-01-01
Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions. PMID:20485326
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Freedenberg, D L; Gane, L W; Richards, C S; Lampe, M; Hills, J; O'Connor, R; Manchester, D; Taylor, A; Tassone, F; Hulseberg, D; Hagerman, R J; Patil, S R
1999-07-30
We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well as an isodicentric X chromosome. S is a 19-year-old woman who presented for evaluation of developmental delay. Pregnancy was complicated by a threatened miscarriage. She was a healthy child with intellectual impairment noted in infancy. Although she had global delays, speech was noted to be disproportionately delayed with few words until age 3.5 years. Facial appearance was consistent with fragile X syndrome. Age of onset of menses was 11 years with normal breast development. A maternal male second cousin had been identified with fragile X syndrome based on DNA studies. The mother of this child (S's maternal first cousin) and the grandfather (S's maternal uncle) were both intellectually normal but were identified as carrying triplet expansions in the premutation range. S's mother had some school difficulties but was not identified as having global delays. Molecular analysis of S's fragile X alleles noted an expansion of more than 400 CGG repeats in one allele. Routine cytogenetic studies of peripheral blood noted the presence of an isodicentric X in 81of 86 cells scored. Five of 86 cells were noted to be 45,X. Cytogenetic fra(X) studies from peripheral blood showed that the structurally normal chromosome had the fragile site in approximately 16% of the cells. Analysis of maternal fragile X alleles identified an allele with an expansion to approximately 110 repeats. FMRP studies detected the expression of the protein in 24% of cells studied. To our knowledge, this is the first patient reported with an isodicentric X and fragile X syndrome. Whereas her clinical phenotype is suggestive of fragile X syndrome, her skeletal abnormalities may represent the presence of the isodicentric X. Treatment of S with 20 mg/day of Prozac improved her behavior. In the climate of cost con trol, this individual reinforces the recommendation of obtaining chromosomes on individuals with developmental delay even with a family history of fragile X syndrome. Copyright 1999 Wiley-Liss, Inc.
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Development in Children with Achondroplasia: A Prospective Clinical Cohort Study
ERIC Educational Resources Information Center
Ireland, Penelope J.; Donaghey, Samantha; McGill, James; Zankl, Andreas; Ware, Robert S.; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; Johnston, Leanne M.
2012-01-01
Aim: Achondroplasia is characterized by delays in the development of communication and motor skills. While previously reported developmental profiles exist across gross motor, fine motor, feeding, and communication skills, there has been no prospective study of development across multiple areas simultaneously. Method: This Australasian…
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Twelve tips for teaching child development and disability to medical students.
McDonald, Jenny
2018-02-01
Child development is a marker of well-being in childhood and recognition of developmental delay allows timely investigation and intervention for children with developmental disabilities. Despite this, child development and disabilities are not given emphasis in the medical curriculum. This under representation of teaching combined with the stigma associated with disabilities contributes to the sub-optimal health care of people with disabilities. As well as, addressing the stigma of disability a medical undergraduate curriculum should include: the key concepts of child development; the clinical presentation of the most common developmental disabilities; developmental history taking and the infant neurodevelopmental examination. The following twelve tips provide practical advice about how to teach this knowledge and these skills during medical training.
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Detection of 1p36 deletion by clinical exome-first diagnostic approach.
Watanabe, Miki; Hayabuchi, Yasunobu; Ono, Akemi; Naruto, Takuya; Horikawa, Hideaki; Kohmoto, Tomohiro; Masuda, Kiyoshi; Nakagawa, Ryuji; Ito, Hiromichi; Kagami, Shoji; Imoto, Issei
2016-01-01
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.
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Detection of 1p36 deletion by clinical exome-first diagnostic approach
Watanabe, Miki; Hayabuchi, Yasunobu; Ono, Akemi; Naruto, Takuya; Horikawa, Hideaki; Kohmoto, Tomohiro; Masuda, Kiyoshi; Nakagawa, Ryuji; Ito, Hiromichi; Kagami, Shoji; Imoto, Issei
2016-01-01
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis. PMID:28428889
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ERIC Educational Resources Information Center
Povinelli, Daniel J.; And Others
1996-01-01
Investigated the ability of young children to recognize themselves in delayed videotapes and recent photographs. Results suggested a significant developmental delay in young children's success on mark tests of self-recognition using delayed feedback as compared to live feedback, which may have important implications for characterizing the…
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Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay
Webb, Bryn D.; Scharf, Rebecca J.; Spear, Emily A.; Edelmann, Lisa J.; Stroustrup, Annemarie
2015-01-01
The goal of molecular cytogenetic testing for children presenting with developmental delay is to identify or exclude genetic abnormalities that are associated with cognitive, behavioral, and/or motor symptoms. Until 2010, chromosome analysis was the standard first-line genetic screening test for evaluation of patients with developmental delay when a specific syndrome was not suspected. In 2010, The American College of Medical Genetics and several other groups recommended chromosomal microarray (CMA) as the first-line test in children with developmental delays, multiple congenital anomalies, and/or autism. This test is able to detect regions of genomic imbalances at a much finer resolution than G-banded karyotyping. Until recently, no CMA testing had been approved by the United States Food and Drug Administration (FDA). This review will focus on the use of the Affymetrix CytoScan® Dx Assay, the first CMA to receive FDA approval for the genetic evaluation of individuals with developmental delay. PMID:25350348
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D'Angelo, Carla S; Da Paz, José A; Kim, Chong A; Bertola, Débora R; Castro, Claudia I E; Varela, Monica C; Koiffmann, Célia P
2006-01-01
Monosomy 1p36 is one of the most commonly observed mental retardation (MR) syndromes that results in a clinically recognizable phenotype including delayed psychomotor development and/or MR, hypotonia, epilepsy, hearing loss, growth delay, microcephaly, deep-set eyes, flat nasal bridge and pointed chin. Besides, a Prader-Willi syndrome (PWS)-like phenotype has been described in patients with 1p36 monosomy. Forty-one patients presenting hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who tested negative for PWS were investigated by FISH and/or microsatellite markers. Twenty-six were analyzed with a 1p-specific subtelomeric probe, and one terminal deletion was identified. Thirty patients (15 of which also studied by FISH) were investigated by microsatellite markers, and no interstitial 1p36 deletion was found. Our patient presenting the 1p36 deletion did not have the striking features of this monosomy, but her clinical and behavioral features were quite similar to those observed in patients with PWS, except for the presence of normal sucking at birth. The extent of the deletion could be limited to the most terminal 2.5 Mb of 1p36, within the chromosomal region 1p36.33-1p36.32, that is smaller than usually seen in monosomy 1p36 patients. Therefore, chromosome 1p36.33 deletion should be investigated in patients with hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who test negative for PWS.
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Neurodevelopmental behavioral and cognitive disorders.
Jeste, Shafali Spurling
2015-06-01
Neurodevelopmental disorders are a group of heterogeneous conditions characterized by a delay or disturbance in the acquisition of skills in a variety of developmental domains, including motor, social, language, and cognition. This article reviews the most commonly diagnosed neurodevelopmental disorders, which include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, global developmental delay, and intellectual disability and also provides updates on diagnosis, neurobiology, treatment, and issues surrounding the transition to adulthood. Although symptoms emerge at discrete points in childhood, these disorders result from abnormal brain maturation that likely precedes clinical impairment. As a result, research has focused on the identification of predictive biological and behavioral markers, with the ultimate goal of initiating treatments that may either alter developmental trajectories or lessen clinical severity. Advances in the methods used to identify genetic variants, from chromosomal microarray analysis to whole exome sequencing, have facilitated the characterization of many genetic mutations and syndromes that share common pathways to abnormal circuit formation and brain development. Not only do genetic discoveries enrich our understanding of mechanisms underlying atypical development, but they also allow us to identify more homogeneous subgroups within this spectrum of conditions. Impairments do continue into adulthood, with challenges in the transition to adulthood including the management of comorbidities and the provision of educational and vocational supports. Advances in our understanding of the neurobiology and developmental trajectories of these disorders will pave the way for tremendous advances in treatment. Mechanism-based therapies for genetic syndromes are being studied with the goal of expanding targeted treatments to nonsyndromic forms of neurodevelopmental disorders.
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Attention and Language in Fragile X
ERIC Educational Resources Information Center
Cornish, Kim; Sudhalter, Vicki; Turk, Jeremy
2004-01-01
Fragile X syndrome (FXS) is a well-recognized cause of mental retardation and developmental delay in males. Alongside the well-documented clinical characteristics of the condition, recent advances in technology and methodology have begun to define FXS at a number of different levels: genetic, brain structure and function, cognition, and behavior.…
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Recommendation of an Occupational Exposure Level for Perfluro-N-Butyl Iodide
2006-09-01
Clinical signs observed in some dogs, but not all dogs exposed to PFBI included salivation, limb and/or muscle tension, and non-specific signs of...Symposium 2003 considered, “…developmental deficits or delays, and goiter and other effects of frank hypothyroid condition to be adverse effects
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Family Characteristics of Autistic Children: A Further Report.
ERIC Educational Resources Information Center
Narayan, Sukhdev; And Others
1990-01-01
Parents of 21 well-functioning autistic children were examined. Clinical details of the eight parents diagnosed as schizoid are analyzed, leading to the conclusion that one etiological factor may be a genetic predisposition to schizoid personality traits. Global and specific developmental delays in the autistic children's siblings were not found.…
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34 CFR 303.300 - State eligibility criteria and procedures.
Code of Federal Regulations, 2010 CFR
2010-07-01
... INFANTS AND TODDLERS WITH DISABILITIES Program and Service Components of a Statewide System of Early... procedures, including the use of informed clinical opinion, that will be used to measure a child's development; and (2) Stating the levels of functioning or other criteria that constitute a developmental delay...
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34 CFR 303.300 - State eligibility criteria and procedures.
Code of Federal Regulations, 2011 CFR
2011-07-01
... INFANTS AND TODDLERS WITH DISABILITIES Program and Service Components of a Statewide System of Early... procedures, including the use of informed clinical opinion, that will be used to measure a child's development; and (2) Stating the levels of functioning or other criteria that constitute a developmental delay...
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Superior Fluid Intelligence in Children with Asperger's Disorder
ERIC Educational Resources Information Center
Hayashi, Mika; Kato, Motoichiro; Igarashi, Kazue; Kashima, Haruo
2008-01-01
Asperger's disorder is one of autistic spectrum disorders; sharing clinical features with autism, but without developmental delay in language acquisition. There have been some studies of intellectual functioning in autism so far, but very few in Asperger's disorder. In the present study, we investigated abstract reasoning ability, whose form of…
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Decreased head circumference velocity as related to developmental deficit in infancy.
Tal, Galit; Cohen, Ayala; Habib, Sonia; Tirosh, Emanuel
2012-11-01
We evaluated the significance of head circumference growth velocity as related to developmental deficits during infancy. Head circumferences, lengths, and developmental diagnoses were retrieved in a standard manner at ≥ 2 time points from 437 infants with developmental deficits, and 3909 normally developing infants. Infants' ages ranged from 1-24 months, with final diagnoses ascertained at age 24 months. Increased velocity during the first 2 months in typical infants was evident in the study group during the period 2-4 months. A differential head circumference growth velocity was observed, and infants diagnosed with motor delay presented decreased velocity between ages 2-4 months, compared with infants receiving other nonmotor developmental diagnoses. These differences remained after controlling for birth weight and length. No significant sex effect was evident. Infants with developmental deficits demonstrate delayed acceleration of head circumference velocity, compared with typical infants in the first 2 months. Infants with motor delay manifest decreased velocity, compared with infants presenting other developmental deficits. These differences may be related to delayed white matter maturation. Copyright © 2012 Elsevier Inc. All rights reserved.
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Gerstein, Emily D; Pedersen Y Arbona, Anita; Crnic, Keith A; Ryu, Ehri; Baker, Bruce L; Blacher, Jan
2011-04-01
Children with early developmental delays are at heightened risk for behavior problems and comorbid psychopathology. This study examined the trajectories of regulatory capabilities and their potentially mediating role in the development of behavior problems for children with and without early developmental delays. A sample of 231 children comprised of 137 typically developing children and 94 children with developmental delays were examined during mildly frustrating laboratory tasks across the preschool period (ages 3-5). Results indicated that children with delays had greater use of maladaptive strategies (distraction, distress venting) and lower use of adaptive strategies (constructive coping) than typically developing children. For both groups, strategies had similar rates of growth across time; maladaptive strategies decreased and adaptive strategies increased. The intercept of strategy use, but not the slope, was found to mediate the relation between developmental risk and externalizing behaviors. Findings support that dysregulation, rather than the developmental risk, may be responsible for the high levels of comorbid psychopathology.
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He, Miao; Kratz, Lisa E.; Michel, Joshua J.; Vallejo, Abbe N.; Ferris, Laura; Kelley, Richard I.; Hoover, Jacqueline J.; Jukic, Drazen; Gibson, K. Michael; Wolfe, Lynne A.; Ramachandran, Dhanya; Zwick, Michael E.; Vockley, Jerry
2011-01-01
Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. This gene encodes a sterol-C4-methyl oxidase (SMO), which catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway. C4-Methylsterols are meiosis-activating sterols (MASs). They exist at high concentrations in the testis and ovary and play roles in meiosis activation. In this study, we found that an accumulation of MASs in the patient led to cell overproliferation in both skin and blood. SMO deficiency also substantially altered immunocyte phenotype and in vitro function. MASs serve as ligands for liver X receptors α and β (LXRα and LXRβ), which are important in regulating not only lipid transport in the epidermis, but also innate and adaptive immunity. Deficiency of SMO represents a biochemical defect in the cholesterol synthesis pathway, the clinical spectrum of which remains to be defined. PMID:21285510
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Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean
2015-08-01
This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries. Copyright © 2014. Published by Elsevier B.V.
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Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.
Lam, Ching-Wan; Yeung, Wai-Lan; Law, Chun-Yiu
2017-06-01
More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise. Physical examination showed the patient was hypotonic despite normal muscle power and reflexes. She also had progressive microcephaly. Developmental assessment at 6y showed the patient had a corresponding functional age of 1y. The patient also had autistic feature. The patient had no abnormal biochemical or radiological findings. To investigate the molecular basis of the clinical presentation, we applied clinical whole-exome sequencing (WES) for the proband and the family, and we identified a novel de novo heterozygous missense pathogenic variant, TOP2B: NM_001068.2:c.172C>T; NP_001059.2:p.His58Tyr. TOP2B encodes for the enzyme, topoisomerase II isoenzyme beta which is abundant in both developing and adult brain. Defect of topoisomerase is also known to cause ASD. Using clinical WES, we were able to identify the disease-causing gene for this patient in a holistic approach and end the diagnostic odyssey with a therapeutic impact. Copyright © 2017 Elsevier B.V. All rights reserved.
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Alnasser, Yossef
2017-01-01
The consequences of poor child development are becoming increasingly recognized. Programs are being put in place around the world to improve child development by providing healthy and stimulating environments for children. However, these programs often have limited reach and little is known about the prevalence of developmental delay in under-developed communities. The current study set-out to better understand the prevalence of developmental delay in rural communities in the Amazon region of Peru. Also, it explores social determinants that are associated with any delay. Cross-sectional study by evaluating developmental delay in children under 4 years utilizing Ages and Stages Questionnaire (ASQ-3). Additionally, conducting a social determinants questionnaire answered by caretakers to identify social drivers for developmental delay. The data was analyzed with multi-variant analysis to measure association. The prevalence of developmental delay in the Amazonian communities was 26.7% (19.3% in communication, 11.4% in gross motor skills, 8% in both) (N = 596). The multivariate logistic regression analysis revealed significant associations between developmental delay and; level of education (OR 0.64, p = 0.009), age of mother during child’s birth (OR 0.96, p = 0.002), visits by community health agents (OR 0.73, p = 0.013), and river as primary water source (OR 2.39, p = 0.001). The social determinants questionnaire revealed that 39% of the mothers had their first child before the age of 17, nearly half stopped going to school before the age of 12 (52%), 29% gave birth at home, 13% breast fed for less than 7 months, and 50% of the children had diarrhea in the last month. There is still a great need to improve the conditions for child development in the Amazon region of Peru. One-fourth of the children suffer from developmental delay, which will likely impede their potentials for life unless something is done. The impact of education, age of mother at birth of the child, community health agents, and access to clean drinking water were important findings. Improvements can be made in these areas to create a large, cost-effective impact on the well-being of the communities. PMID:29023517
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Westgard, Christopher; Alnasser, Yossef
2017-01-01
The consequences of poor child development are becoming increasingly recognized. Programs are being put in place around the world to improve child development by providing healthy and stimulating environments for children. However, these programs often have limited reach and little is known about the prevalence of developmental delay in under-developed communities. The current study set-out to better understand the prevalence of developmental delay in rural communities in the Amazon region of Peru. Also, it explores social determinants that are associated with any delay. Cross-sectional study by evaluating developmental delay in children under 4 years utilizing Ages and Stages Questionnaire (ASQ-3). Additionally, conducting a social determinants questionnaire answered by caretakers to identify social drivers for developmental delay. The data was analyzed with multi-variant analysis to measure association. The prevalence of developmental delay in the Amazonian communities was 26.7% (19.3% in communication, 11.4% in gross motor skills, 8% in both) (N = 596). The multivariate logistic regression analysis revealed significant associations between developmental delay and; level of education (OR 0.64, p = 0.009), age of mother during child's birth (OR 0.96, p = 0.002), visits by community health agents (OR 0.73, p = 0.013), and river as primary water source (OR 2.39, p = 0.001). The social determinants questionnaire revealed that 39% of the mothers had their first child before the age of 17, nearly half stopped going to school before the age of 12 (52%), 29% gave birth at home, 13% breast fed for less than 7 months, and 50% of the children had diarrhea in the last month. There is still a great need to improve the conditions for child development in the Amazon region of Peru. One-fourth of the children suffer from developmental delay, which will likely impede their potentials for life unless something is done. The impact of education, age of mother at birth of the child, community health agents, and access to clean drinking water were important findings. Improvements can be made in these areas to create a large, cost-effective impact on the well-being of the communities.
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Kim, Hyo Jeong; Park, Chang Il; Lim, Jae Woo; Lee, Gyung Min; Cho, Eunhae; Kim, Hyon J
2018-05-01
The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID. © Copyright: Yonsei University College of Medicine 2018.
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Yang, P; Jong, Y-J; Hsu, H-Y; Lung, F-W
2011-05-01
As part of an ongoing clinical service programme for pre-school children with developmental delay in an Asian developing country, we analysed the effect of three assessment tests, that is, Bayley Scale of Infant Development-II, Leiter International Performance Scale - Revised and Wechsler Preschool and Primary Scale of Intelligence - Revised - Chinese, on the stability of intelligence quotient (IQ) of children from pre-school through early childhood. The participants were 313 Taiwanese pre-school children with uneven or delayed cognitive profile and they were followed through early childhood. IQ stability was explored by different tests and among children of different clinical diagnosis: 168 children with non-autistic intellectual disability, 73 children with autism spectrum disorder, 58 children with mixed receptive-expressive language disorder and 14 children of other heterogeneous diagnoses. Stability of scores was evaluated using the r-squared for Pearson's coefficients to see the correlation between initial IQ (IQ1) and follow-up IQ (IQ2). Multiple linear regressions were also applied to see whether IQ1 had predictive ability for IQ2 and test-test difference in the total 313 children and each diagnostic subgroup. Results revealed that mean IQ1 was 65.8 ± 15.4 while mean IQ2 was 73.2 ± 17.9 for the total 313 children. The IQs were stable across an average follow-up duration of 38.6 ± 22.1 month from pre-school into early childhood. Patterns of positive correlations between IQ1 and IQ2 were noted by all the tests (r-squared = 0.43-0.5, all P < 0.001) and in the majority of diagnostic subgroups. Multiple regressions analysis also revealed that IQ1 could predict IQ2 significantly in all the tests (all P < 0.001). After careful choice of appropriate initial test, stability of IQ in children with developmental delay was noted from pre-school through early childhood. In addition, the translated version of cognitive assessment was valid for the required context of an Asian developing country. With the current emphasis on early identification and intervention for pre-school children with developmental delay, this information bears merit in clinical practice. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.
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Maternal Obesity: Risks for Developmental Delays in Early Childhood.
Duffany, Kathleen O'Connor; McVeigh, Katharine H; Kershaw, Trace S; Lipkind, Heather S; Ickovics, Jeannette R
2016-02-01
To assess the risk for neurodevelopmental delays for children of mothers who were obese (≥200 pounds) prior to pregnancy, and to characterize delays associated with maternal obesity among children referred to and found eligible to receive Early Intervention Program services. We conducted a retrospective cohort study (N = 541,816) using a population-based New York City data warehouse with linked birth and Early Intervention data. Risks for children suspected of a delay and 'significantly delayed', with two moderate or one severe delay, were calculated. Among the group of children eligible by delay for Early Intervention, analyses assessed risk for being identified with a moderate-to-severe delay across each of five functional domains as well as risks for multiple delays. Children of mothers who were obese were more likely to be suspected of a delay (adjusted RR 1.19 [CI 1.15-1.22]) and borderline association for 'significantly delayed' (adjusted RR 1.01 [CI 1.00-1.02). Among children eligible by delay, children of mothers who were obese evidenced an increased risk for moderate-to-severe cognitive (adjusted RR 1.04 [CI 1.02-1.07]) and physical (adjusted RR 1.04 [CI 1.01-1.08]) delays and for global developmental delay (adjusted RR 1.05 [CI 1.01-1.08]). Maternal obesity is associated with increased risk of developmental delay in offspring. Among children with moderate or severe delays, maternal obesity is associated with increased risk of cognitive and physical delays as well as with increased risk for global developmental delay. While causation remains uncertain, this adds to the growing body of research reporting an association between maternal obesity and neurodevelopmental delays in offspring.
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Ren, Changhong; Fang, Fang; Huang, Yu; Cheng, Hua; Dai, Lifang
2015-12-01
To analyze the clinical and PMM2 gene mutation features of congenital disturbance of glycosylation caused by PMM2 gene mutation (PMM2-CDG, previously known as CDG 1a). The clinical data of two Chinese patients who were clinically diagnosed as PMM2-CDG at neurology department of Beijing Children's Hospital in 2012 were retrospectively collected. The gene mutations were identified by Sanger sequencing. Both patients were female, aged 1 year and 1 month and 8 months respectively. The main clinical features of the two cases were developmental delay after birth, chronic diarrhea and metabolic acidosis, associated with elevated serum transaminases, and decreased antithrombin III activity. Physical examination showed esotropia, inverted nipples, and abnormal subcutaneous fat pads. The cranial MRI showed cerebellar atrophy. Both cases were treated with occupational therapy, physical therapy and speech therapy. The development was gradually improved but also delayed as compared with normal peers during follow-up for more than 3 years. Genetic analysis showed that patient 1 was compound heterozygous for c. 422G>A(p.Arg141His), which was reported for known pathogenic mutation, and c. 669C>A(p.Asp223Glu), was a new mutation. The patient 2 showed compound heterozygous mutation for c. 634A>G (p.Met212Val)and c. 713G>C(p.Arg238Pro), which were both new mutations. PMM2-CDG is a rare metabolic disease, and the diagnosis should be considered in a child with developmental delay, elevated serum transaminases, decreased antithrombin III activity, inverted nipples, abnormal subcutaneous fat pads, esotropia, and cerebellar atrophy on MRI. It can be confirmed by PMM2 gene analysis.
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Kim, Seong Woo; Jeon, Ha Ra; Park, Eun Ji; Kim, Hyo In; Jung, Da Wa; Woo, Mee Ryung
2014-06-01
To investigate the usefulness of MacArthur-Bates Communicative Development Inventories-Korean (M-B CDI-K) short form as a screening test in children with language developmental delay. From April 2010 to May 2012, a total of 87 patients visited the department of physical medicine and rehabilitation of National Health Insurance Service Ilsan Hospital with the complaint of language developmental delay and were enrolled in this study. All patients took M-B CDI-K short form and Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES) according to their age. The study group consisted of 58 male patients and 29 female patients and the mean age was 25.9 months. The diagnosis are global developmental delay in 26 patients, selective language impairment in 31 patients, articulation disorder in 7 patients, cerebral palsy in 8 patients, autism spectrum disorder in 4 patients, motor developmental delay in 4 patients, and others in 7 patients. Seventy-one patients are diagnosed with language developmental delay in SELSI or PRES and of them showed 69 patients a high risk in the M-B CDI-K short form. Sixteen patients are normal in SELSI or PRES and of them showed 14 patients non-high risk in the M-B CDI-K short form. The M-B CDI-K short form has 97.2% sensitivity, 87.5% specificity, a positive predictive value of 0.97, and a negative predictive value of 0.88. The M-B CDI-K short form has a high sensitivity and specificity so it is considered as an useful screening tool in children with language developmental delay. Additional researches targeting normal children will be continued to supply the specificity of the M-B CDI-K short form.
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Wei, Q W; Zhang, J X; Scherpbier, R W; Zhao, C X; Luo, S S; Wang, X L; Guo, S F
2015-12-01
Poverty and its associated factors put children at risk for developmental delay. The aim of this study was to describe the neurodevelopment of children under three years of age in poverty-stricken areas of China and explore possible associated factors. A cross-sectional survey was conducted among 2837 children aged 1-35 months in poverty-stricken areas of China. Characteristics of the child, caregiver, and family were collected through face-to-face caregiver interviews. Developmental delay was explored with the five-domain, structured, parent-completed Ages and Stages Questionnaire. The Zung Self-rating Depression Scale was used to assess depressive symptoms of the caregivers. The Chi-squared test and multivariate logistic regression analyses were used to explore associated factors. Of the children, 39.7% (95% confidence interval, 37.9-41.5) had developmental delay in at least one of the five domains. For the domains of communication, gross motor, fine motor, problem solving, and personal-social skills, the prevalence was 11.5%, 18.5%, 21.4%, 18.4%, and 17.9%, respectively. Significant predictors of increased odds of developmental delay included the child having no toys (odds ratio [OR] = 2.31), the caregiver having depression (OR = 2.24), insufficient learning activities (OR = 1.65), and more children in the family (OR = 1.16). The high prevalence of developmental delay in children younger than three years in poverty-stricken areas of China and the presence of risk factors for developmental delay such as inadequate learning resources and activities in the home, caregiver depression, and low family income highlight the need for early identification and interventions. Copyright © 2015 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.
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Parenting Stress and Depression in Children with Mental Retardation and Developmental Disabilities.
ERIC Educational Resources Information Center
Kobe, Frank H.
1994-01-01
This study of 29 children with developmental delays found that parent ratings of children's depression were significantly associated with maternal depression, negative self-image, anxiety, and conduct problems. Data suggest that children with developmental delays exhibit a similar pattern of symptoms and associated characteristics to those found…
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Mental Disorders in Five-Year-Old Children with or without Developmental Delay: Focus on ADHD
ERIC Educational Resources Information Center
Baker, Bruce L.; Neece, Cameron L.; Fenning, Rachel M.; Crnic, Keith A.; Blacher, Jan
2010-01-01
Epidemiological studies of children and adolescents with intellectual disability have found 30 to 50% exhibiting clinically significant behavior problems. Few studies, however, have assessed young children, included a cognitively typical comparison group, assessed for specific disorders, and/or studied family correlates of diagnosis. We assessed…
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ERIC Educational Resources Information Center
Liben, Lynn S.; Susman, Elizabeth J.; Finkelstein, Jordan W.; Chinchilli, Vernon M.; Kunselman, Susan; Schwab, Jacqueline; Dubas, Judith Semon; Demers, Laurence M.; Lookingbill, Georgia; D'Arcangelo, M. Rose; Krogh, Holleen R.; Kulin, Howard E.
2002-01-01
Investigated the relationship between sex hormones and spatial performance among adolescents treated with sex steroids for delayed puberty. Found that spatial performance varied according to gender but did not vary with levels of actively circulating sex steroids. Reviewed physiological mechanisms, developmental periods, and past empirical work…
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ERIC Educational Resources Information Center
Davidson, Meghan M.; Ellis Weismer, Susan
2017-01-01
This study examined the extent to which a discrepant comprehension-production profile (i.e., relatively more delayed comprehension than production) is characteristic of the early language phenotype in autism spectrum disorders (ASD) and tracked the developmental progression of the profile. Our findings indicated that a discrepant…
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Early Oral-Motor Interventions for Pediatric Feeding Problems: What, When and How
ERIC Educational Resources Information Center
Manno, Cecilia J.; Fox, Catherine; Eicher, Peggy S.; Kerwin, MaryLouise E.
2005-01-01
Children with developmental delays often have feeding difficulties resulting from oral-motor problems. Based on both clinical experience and a review of published studies, oral-motor interventions have been shown to be effective in improving the oral function of preterm infants and children with neuromotor disorders, such as cerebral palsy.…
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Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña
2015-01-20
To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.
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Emerson, E; Brigham, P
2015-03-01
Research on child development in general has highlighted the importance that the family environment plays in mediating the pathway between exposure to low socio-economic position (SEP) and child well-being. While child developmental models in intellectual disability have highlighted the interplay between social context, family environment and child development, little empirical work has attempted to formally evaluate the evidence in support of specific mediating pathways between low SEP and child outcomes. Secondary analysis of cross-sectional confidentialized needs analysis data collected in three Primary Care Trusts in England covering a total population of 1.25 million people. Case record reviews were undertaken for 46 023 households, 2236 (4.9%) of which contained a child in the target age range with developmental delay. Children with developmental delay, when compared with their non-disabled peers, were at significantly increased risk of poorer health outcomes and of being exposed to a wide range of social determinants of poor health. Controlling for between-group differences in exposure to social determinants of poor health reduced the risk of developmental delay being associated with poorer health outcomes by 45% for behaviour problems and 89% for risk of significant harm. For children with developmental delay, parenting difficulties appears to play a particularly significant role in partially mediating the effects of low SEP. The findings of the present study point to the potential effectiveness of family-focused early intervention to prevent the emergence and escalation of behavioural difficulties and health problems in children with developmental delay. © 2014 John Wiley & Sons Ltd.
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Detection and mapping of delays in early cortical folding derived from in utero MRI
NASA Astrophysics Data System (ADS)
Habas, Piotr A.; Rajagopalan, Vidya; Scott, Julia A.; Kim, Kio; Roosta, Ahmad; Rousseau, Francois; Barkovich, A. James; Glenn, Orit A.; Studholme, Colin
2011-03-01
Understanding human brain development in utero and detecting cortical abnormalities related to specific clinical conditions is an important area of research. In this paper, we describe and evaluate methodology for detection and mapping of delays in early cortical folding from population-based studies of fetal brain anatomies imaged in utero. We use a general linear modeling framework to describe spatiotemporal changes in curvature of the developing brain and explore the ability to detect and localize delays in cortical folding in the presence of uncertainty in estimation of the fetal age. We apply permutation testing to examine which regions of the brain surface provide the most statistical power to detect a given folding delay at a given developmental stage. The presented methodology is evaluated using MR scans of fetuses with normal brain development and gestational ages ranging from 20.57 to 27.86 weeks. This period is critical in early cortical folding and the formation of the primary and secondary sulci. Finally, we demonstrate a clinical application of the framework for detection and localization of folding delays in fetuses with isolated mild ventriculomegaly.
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Clinical characteristics of children with mental retardation of unknown etiology in Korea.
Yim, S. Y.; Lee, I. Y.
1999-01-01
The purpose of this study was to investigate the clinical characteristics of children with mental retardation (MR) of unknown etiology for early recognition and intervention. In this study, we defined children with MR of unknown etiology as those without clear etiologies for MR despite extensive evaluation and were not associated with pathological behavioral problems such as pervasive developmental disorders and attention-deficit/hyperactivity disorder. The clinical characteristics of children with MR of unknown etiology were as follows. 1) MR of unknown etiology was 48.8% of all MR. 2) MR of unknown etiology was more common in males. 3) Delayed language development was a leading factor that made the parents of children with MR of unknown etiology seek help from physicians. However, most of the children with MR of unknown etiology showed a relatively uniform delay in several areas of development. 4) Most children with MR of unknown etiology were delayed walkers. 5) Most children with MR of unknown etiology were mild cases. PMID:10331556
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ERIC Educational Resources Information Center
Jahromi, Laudan B.; Umaña-Taylor, Adriana J.; Updegraff, Kimberly A.; Zeiders, Katharine H.
2016-01-01
Children of adolescent mothers are at risk for developmental delays. Less is known about the heterogeneity in these children's developmental trajectories, and factors associated with different patterns of development. This longitudinal study used latent class growth analysis (LCGA) to identify distinct trajectories in children of Mexican-origin…
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Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.
Brar, Randeep; Basel, Donald G; Bick, David P; Weik, LuAnn; vanTuinen, Peter; Peterson, Jess F
2017-01-01
To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).
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Kiss, Peter; Vadasz, Gyongyver; Kiss-Illes, Blanka; Horvath, Gabor; Tamas, Andrea; Reglodi, Dora; Koppan, Miklos
2013-01-01
Perinatal asphyxia during delivery produces long-term disability and represents a major problem in neonatal and pediatric care. Numerous neuroprotective approaches have been described to decrease the effects of perinatal asphyxia. Enriched environment is a popular strategy to counteract nervous system injuries. The aim of the present study was to investigate whether enriched environment is able to decrease the asphyxia-induced neurobehavioral developmental delay in neonatal rats. Asphyxia was induced in ready-to-deliver mothers by removing the pups by caesarian section after 15 min of asphyxia. Somatic and neurobehavioral development was tested daily and motor coordination weekly. Our results show that rats undergoing perinatal asphyxia had a marked developmental delay and worse performance in motor coordination tests. However, pups kept in enriched environment showed a decrease in the developmental delay observed in control asphyctic pups. Rats growing up in enriched environment did not show decrease in weight gain after the first week and the delay in reflex appearance was not as marked as in control rats. In addition, the development of motor coordination was not as strikingly delayed as in the control group. Short-term neurofunctional outcome are known to correlate with long-term deficits. Our results thus show that enriched environment could be a powerful strategy to decrease the deleterious developmental effects of perinatal asphyxia. PMID:24232451
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Kiss, Peter; Vadasz, Gyongyver; Kiss-Illes, Blanka; Horvath, Gabor; Tamas, Andrea; Reglodi, Dora; Koppan, Miklos
2013-11-13
Perinatal asphyxia during delivery produces long-term disability and represents a major problem in neonatal and pediatric care. Numerous neuroprotective approaches have been described to decrease the effects of perinatal asphyxia. Enriched environment is a popular strategy to counteract nervous system injuries. The aim of the present study was to investigate whether enriched environment is able to decrease the asphyxia-induced neurobehavioral developmental delay in neonatal rats. Asphyxia was induced in ready-to-deliver mothers by removing the pups by caesarian section after 15 min of asphyxia. Somatic and neurobehavioral development was tested daily and motor coordination weekly. Our results show that rats undergoing perinatal asphyxia had a marked developmental delay and worse performance in motor coordination tests. However, pups kept in enriched environment showed a decrease in the developmental delay observed in control asphyctic pups. Rats growing up in enriched environment did not show decrease in weight gain after the first week and the delay in reflex appearance was not as marked as in control rats. In addition, the development of motor coordination was not as strikingly delayed as in the control group. Short-term neurofunctional outcome are known to correlate with long-term deficits. Our results thus show that enriched environment could be a powerful strategy to decrease the deleterious developmental effects of perinatal asphyxia.
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Adaptive developmental delay in Chagas disease vectors: an evolutionary ecology approach.
Menu, Frédéric; Ginoux, Marine; Rajon, Etienne; Lazzari, Claudio R; Rabinovich, Jorge E
2010-05-25
The developmental time of vector insects is important in population dynamics, evolutionary biology, epidemiology and in their responses to global climatic change. In the triatomines (Triatominae, Reduviidae), vectors of Chagas disease, evolutionary ecology concepts, which may allow for a better understanding of their biology, have not been applied. Despite delay in the molting in some individuals observed in triatomines, no effort was made to explain this variability. We applied four methods: (1) an e-mail survey sent to 30 researchers with experience in triatomines, (2) a statistical description of the developmental time of eleven triatomine species, (3) a relationship between development time pattern and climatic inter-annual variability, (4) a mathematical optimization model of evolution of developmental delay (diapause). 85.6% of responses informed on prolonged developmental times in 5(th) instar nymphs, with 20 species identified with remarkable developmental delays. The developmental time analysis showed some degree of bi-modal pattern of the development time of the 5(th) instars in nine out of eleven species but no trend between development time pattern and climatic inter-annual variability was observed. Our optimization model predicts that the developmental delays could be due to an adaptive risk-spreading diapause strategy, only if survival throughout the diapause period and the probability of random occurrence of "bad" environmental conditions are sufficiently high. Developmental delay may not be a simple non-adaptive phenotypic plasticity in development time, and could be a form of adaptive diapause associated to a physiological mechanism related to the postponement of the initiation of reproduction, as an adaptation to environmental stochasticity through a spreading of risk (bet-hedging) strategy. We identify a series of parameters that can be measured in the field and laboratory to test this hypothesis. The importance of these findings is discussed in terms of global climatic change and epidemiological consequences.
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... children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision ... children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision ...
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes, Víctor; Newman, William G; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J; Demos, Michelle K; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J; Rankin, Julia; Robertson, Lisa; Temple, I Karen; Banka, Siddharth
2018-01-04
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs. We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. Additionally, we describe a recessive histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly. Collectively, these results emphasize the significance of histone lysine methylation in normal human development and the importance of this process in human developmental disorders. Our results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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ERIC Educational Resources Information Center
Sy, Jolene R.; Vollmer, Timothy R.
2012-01-01
We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an…
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Promoting Healthy Weight among Children with Developmental Delays
ERIC Educational Resources Information Center
Natale, Ruby R.; Camejo, Stephanie T.; Asfour, Lila; Uhlhorn, Susan B.; Delamater, Alan; Messiah, Sarah E.
2017-01-01
An extensive body of research demonstrates a higher prevalence of obesity among children with developmental delays (DD) versus children without delays. This analysis examined the effectiveness of a randomized controlled trial to promote healthy weight in a subsample of preschool-age children with DD (n = 71) on the adoption of quality nutrition…
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Kagami, Masayo; Kurosawa, Kenji; Miyazaki, Osamu; Ishino, Fumitoshi; Matsuoka, Kentaro; Ogata, Tsutomu
2015-01-01
Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, −1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29–70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith–Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name ‘Kagami–Ogata syndrome' for UPD(14)pat and related conditions. PMID:25689926
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ERIC Educational Resources Information Center
Saleh, Rawan M. Abu; Smadi, Jamil M.
2017-01-01
This study aimed to assess the efficacy of the developmental assessment of young children second edition (DAYC-2) Scale in detecting Developmental Delay among Jordanian children aged birth to 71 months. Firstly, the scale was translated and reviewed for language and cultural appropriateness. Secondly, the Arabic Jordanian version of the scale was…
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Fujita, Atsushi; Isidor, Bertrand; Piloquet, Hugues; Corre, Pierre; Okamoto, Nobuhiko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi
2016-09-01
MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation. By reviewing this patient and previous patients with MEIS2 point mutations, we found that feeding difficulty with gastro-esophageal reflux appears to be one of the core clinical features of MEIS2 haploinsufficiency, in addition to intellectual disability, cleft palate and cardiac septal defect.
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Sensory features and repetitive behaviors in children with autism and developmental delays.
Boyd, Brian A; Baranek, Grace T; Sideris, John; Poe, Michele D; Watson, Linda R; Patten, Elena; Miller, Heather
2010-04-01
This study combined parent and observational measures to examine the association between aberrant sensory features and restricted, repetitive behaviors in children with autism (N=67) and those with developmental delays (N=42). Confirmatory factor analysis was used to empirically validate three sensory constructs of interest: hyperresponsiveness, hyporesponsiveness, and sensory seeking. Examining the association between the three derived sensory factor scores and scores on the Repetitive Behavior Scales--Revised revealed the co-occurrence of these behaviors in both clinical groups. Specifically, high levels of hyperresponsive behaviors predicted high levels of repetitive behaviors, and the relationship between these variables remained the same controlling for mental age. We primarily found non-significant associations between hyporesponsiveness or sensory seeking and repetitive behaviors, with the exception that sensory seeking was associated with ritualistic/sameness behaviors. These findings suggest that shared neurobiological mechanisms may underlie hyperresponsive sensory symptoms and repetitive behaviors and have implications for diagnostic classification as well as intervention.
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Effects of Weighted Vests on the Engagement of Children with Developmental Delays and Autism
ERIC Educational Resources Information Center
Reichow, Brian; Barton, Erin E.; Sewell, Joanna Neely; Good, Leslie; Wolery, Mark
2010-01-01
The use of weighted vests for children with autism spectrum disorders and developmental disabilities is a common practice as part of sensory integration therapy programs. The purpose of the current investigation was to extend the research on the use of weighted vests for children with autism and developmental delays in a methodologically rigorous…
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Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André
2015-01-01
Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity. PMID:25099252
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Wieczorek, Dagmar; Gener, Blanca; González, Ma Jesús Martínez; Seland, Saskia; Fischer, Sven; Hehr, Ute; Kuechler, Alma; Hoefsloot, Lies H; de Leeuw, Nicole; Gillessen-Kaesbach, Gabriele; Lohmann, Dietmar R
2009-05-01
Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.
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ERIC Educational Resources Information Center
Jaswal, Shivani; Kaur, Jasbinder; Chavan, B. S.; Gupta, Seema; Kaur, Harjeet
2011-01-01
Objective: Pediatrician is the first contact in the Pathway to Care in children with Mental retardation (MR). Following the recent advancements in the area of molecular genetics, understanding of specific conditions of MR or Developmental Delay (DD) is expanding. Hypothyroidism is a treatable metabolic/endocrinological cause of MR. The aim of this…
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ERIC Educational Resources Information Center
Marshall, Julie; Harding, Sam; Roulstone, Sue
2017-01-01
Background: Evidence-based practice includes research evidence, clinical expertise and stakeholder perspectives. Stakeholder perspectives are important and include parental ethno-theories, which embrace views about many aspects of speech, language and communication, language development, and interventions. The Developmental Niche Framework…
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ERIC Educational Resources Information Center
Strunk, Julie A.
2008-01-01
Teenage pregnancy outcomes have become an increasing concern in the United States. Education and support of pregnant teens are critical factors that may determine good or poor pregnancy outcomes. Poor outcomes may include low birth weight, developmental delays, and poor academic performance. Although the number of teenagers experiencing pregnancy…
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Simpson, Gloria A; Colpe, Lisa; Greenspan, Stanley
2003-01-01
In order to measure the prevalence of developmental delay among US infants and children, two types of questions were asked of parents in the 1994-95 National Health Interview Survey on Disability (NHIS-D). To measure functional delay (FD), questions from the Functional Developmental Growth Chart (FDQ), which measures specific age-appropriate tasks, were used. General delay (GD) was defined using the general type of questions about developmental delay that had been used in previous surveys. Using a nationally representative sample of 15 291 infants and children aged 4-59 months from the NHIS-D, analyses revealed that, according to these questions, approximately 3.3% had FD and 3.4% of the children had GD. However, only one-third of the children were identified by both sets of questions. Thus, two-thirds of the children identified as having FD were not recognised by their parents as having a delay. Conversely, many parents responded to the GD questions indicating that their child had a delay, but failed to indicate that their child had a functional problem. In addition, only 17% of the children with FD and 31% of those with GD were receiving special services. Multivariable logistic regression analyses found that children with both FD and GD were more likely to be male and to be living in families with incomes below 200% of the poverty level. The findings suggest that the general types of developmental delay questions used in national surveys may not identify children with functional delays. As parents failed to identify these children, it is possible that many of these children may be slipping through paediatric surveillance. Further research to evaluate the use of these measures in population surveys is recommended.
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Using Time Delay to Teach Literacy to Students with Severe Developmental Disabilities
ERIC Educational Resources Information Center
Browder, Diane; Ahlgrim-Delzell, Lynn; Spooner, Fred; Mims, Pamela J.; Baker, Joshua N.
2009-01-01
A review of the literature was conducted for articles published between 1975 and 2007 on the application of time delay as an instructional procedure to teach word and picture recognition to students with severe developmental disabilities in an effort to evaluate time delay as an evidence-based practice. A total of 30 experiments were analyzed…
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Global developmental delay with sodium valproate-induced gingival hyperplasia.
Patil, Ravi B; Urs, Pallavi; Kiran, Shital; Bargale, Seema Dinesh
2014-01-22
Global developmental delay (GDD) refers to a disturbance in an individual child across one or more developmental domains, which include motor, cognition, daily activities, speech and language. The present case discusses a 5-year-old child with GDD associated with infantile spasms treated with sodium valproate. Delay in the widespread acquisition of skills, epilepsy and poor oral hygiene with gingival enlargement was the main concern to seek medical aid. This case is special as the child was suffering from GDD associated with sodium valproate-induced gingival enlargement.
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Cprek, Sarah E; Williams, Corrine M; Asaolu, Ibitola; Alexander, Linda A; Vanderpool, Robin C
2015-11-01
(1) Investigate the relationship between three specific positive parenting practices (PPP)-reading to children, engaging in storytelling or singing, and eating meals together as a family-and parent-reported risk of developmental, behavioral, or social delays among children between the ages of 1-5 years in the US. (2) Determine if a combination of these parenting practices has an effect on the outcome. Chi square and multiple logistic regression analyses were used to analyze cross-sectional data from the National Survey of Children's Health 2011/2012 in regards to the relationship between each of the three individual PPP as well as a total PPP score and the child's risk of being developmentally, socially, or behaviorally delayed (N = 21,527). Risk of delay was calculated using the Parents' Evaluation of Developmental Status Questionnaire, which is a parental self-report measure that has been correlated with diagnosed child delays. These analyses controlled for poverty and parental education. All analyses were completed using SAS Version 9.3. A strong correlation was found between each of the three PPP as well as the total PPP score and the child's risk of developmental, social, or behavioral delays (p < 0.05 for each test). These associations were found to have a dose-response relationship (p < 0.05 in all but one analysis). Daily engagement in PPP could possibly reduce children's risk of delay, and specifically engaging in all three PPP may have greater benefit.
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2012-01-01
Background Mental retardation (MR) is a heterogeneous condition that affects 2-3% of the general population and is a public health problem in developing countries. Chromosomal abnormalities are an important cause of MR and subtelomeric rearrangements (STR) have been reported in 4-35% of individuals with idiopathic MR or an unexplained developmental delay, depending on the screening tests and patient selection criteria used. Clinical checklists such as that suggested by de Vries et al. have been used to improve the predictive value of subtelomeric screening. Findings Fifteen patients (1–20 years old; five females and ten males) with moderate to severe MR from a genetics outpatient clinic of the Gaffrée and Guinle Teaching Hospital (HUGG) of the Federal University of Rio de Janeiro State (UNIRIO) were screened with Multiprobe T FISH after normal high resolution karyotyping. No subtelomeric rearrangements were detected even though the clinical score of the patients ranged from four to seven. Conclusion In developing countries, FISH-based techniques such as Multiprobe T FISH are still expensive. Although Multiprobe T FISH is a good tool for detecting STR, in this study it did not detect STR in patients with unexplained MR/developmental delay even though these patients had a marked chromosomal imbalance. Our findings also show that clinical scores are not reliable predictors of STR. PMID:23259705
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Lenticular abnormalities in children.
Khokhar, Sudarshan; Agarwal, Tushar; Kumar, Gaurav; Kushmesh, Rakhi; Tejwani, Lalit Kumar
2012-01-01
To study the lenticular problems in children presenting at an apex institute. Retrospective analysis of records (< 14 years) of new lens clinic cases was done. Of 1,047 children, 687 were males. Mean age at presentation was 6.35 ± 4.13 years. Developmental cataract was seen in 45.6% and posttraumatic cataract in 29.7% of patients. Other abnormalities were cataract with retinal detachment, persistent hyperplastic primary vitreous, subluxated lens, micro/spherophakia, cataract secondary to uveitis, intraocular lens complications, cataract with choroidal coloboma, and visual axis opacification. Developmental and posttraumatic cataracts were the most common abnormalities. Delayed presentation is of concern. Copyright 2012, SLACK Incorporated.
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Chen, Chien-Min; Chen, Chia-Ling; Hou, Jia-Woei; Hsu, Hung-Chih; Chung, Chia-Ying; Chou, Shih-Wei; Lin, Chu-Hsu; Chen, Kai-Hua
2010-01-01
A majority of the children with Prader-Willi syndrome (PWS) have global developmental delay and mental delay. The aim of this study was to investigate the developmental profiles and mental assessments among preschool children with PWS. Ten children with PWS between the ages of 15 months to 6 years, and 11 children with typical development were enrolled. Developmental profiles in terms of their developmental quotient (DQ) for the eight domains of the Chinese Children Developmental Inventory (CCDI) and mental assessments in terms of intelligence quotient (IQ) and developmental index (DI) were carried out for all children. The DQs of all eight domains, including gross motor, fine motor, expressive language, concept comprehension, situation comprehension, self help, personal- social and general development, in the PWS group were lower than the DQs of the children from the typical development group (p < 0.01). Children with PWS had better DQs in the fine motor domain than in the gross motor domain and in the receptive language domain than in the expressive language domain. Furthermore, their verbal IQ were better than their performance IQ and their mental DI was better than their psychomotor DI. These findings suggest that the children with PWS show an uneven global developmental delay together with an uneven mental delay. The results of this study should allow clinicians to better understand the developmental functioning of children with PWS and this will help with the planning of treatment strategies.
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[Asperger syndrome: evolution of the concept and current clinical data].
Aussilloux, C; Baghdadli, A
2008-05-01
Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.
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Severe developmental delay and multiple strawberry naevi: a new syndrome?
Upton, C J; Young, I D
1993-01-01
An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified. Images PMID:8230170
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Potijk, Marieke R; Kerstjens, Jorien M; Bos, Arend F; Reijneveld, Sijmen A; de Winter, Andrea F
2013-11-01
To assess separate and joint effects of low socioeconomic status (SES) and moderate prematurity on preschool developmental delay. Prospective cohort study with a community-based sample of preterm- and term-born children (Longitudinal Preterm Outcome Project). We assessed SES on the basis of education, occupation, and family income. The Ages and Stages Questionnaire was used to assess developmental delay at age 4 years. We determined scores for overall development, and domains fine motor, gross motor, communication, problem-solving, and personal-social of 926 moderately preterm-born (MP) (32-36 weeks gestation) and 544 term-born children. In multivariable logistic regression analyses, we used standardized values for SES and gestational age (GA). Prevalence rates for overall developmental delay were 12.5%, 7.8%, and 5.6% in MP children with low, intermediate, and high SES, respectively, and 7.2%, 4.0%, and 2.8% in term-born children, respectively. The risk for overall developmental delay increased more with decreasing SES than with decreasing GA, but the difference was not statistically significant: OR (95% CI) for a 1 standard deviation decrease were: 1.62 (1.30-2.03) and 1.34 (1.05-1.69), respectively, after adjustment for sex, number of siblings, and maternal age. No interaction was found except for communication, showing that effects of SES and GA are mostly multiplicative. Low SES and moderate prematurity are separate risk factors with multiplicative effects on developmental delay. The double jeopardy of MP children with low SES needs special attention in pediatric care. Copyright © 2013 Mosby, Inc. All rights reserved.
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Kalberg, Wendy O; Provost, Beth; Tollison, Sean J; Tabachnick, Barbara G; Robinson, Luther K; Eugene Hoyme, H; Trujillo, Phyllis M; Buckley, David; Aragon, Alfredo S; May, Philip A
2006-12-01
Researchers are increasingly considering the importance of motor functioning of children with fetal alcohol spectrum disorder (FASD). The purpose of this study was to assess the motor development of young children with fetal alcohol syndrome (FAS) to determine the presence and degree of delay in their motor skills and to compare their motor development with that of matched children without FAS. The motor development of 14 children ages 20 to 68 months identified with FAS was assessed using the Vineland Adaptive Behavior Scales (VABS). In addition, 2 comparison groups were utilized. Eleven of the children with FAS were matched for chronological age, gender, ethnicity, and communication age to: (1) 11 children with prenatal alcohol exposure who did not have FAS and (2) 11 matched children without any reported prenatal alcohol exposure. The motor scores on the VABS were compared among the 3 groups. Most of the young children with FAS in this study showed clinically important delays in their motor development as measured on the VABS Motor Domain, and their fine motor skills were significantly more delayed than their gross motor skills. In the group comparisons, the young children with FAS had significantly lower Motor Domain standard (MotorSS) scores than the children not exposed to alcohol prenatally. They also had significantly lower Fine Motor Developmental Quotients than the children in both the other groups. No significant group differences were found in gross motor scores. For MotorSS scores and Fine Motor Developmental Quotients, the means and standard errors indicated a continuum in the scores from FAS to prenatal alcohol exposure to nonexposure. These findings strongly suggest that all young children with FAS should receive complete developmental evaluations that include assessment of their motor functioning, to identify problem areas and provide access to developmental intervention programs that target deficit areas such as fine motor skills. Fine motor delays in children with FAS may be related to specific neurobehavioral deficits that affect fine motor skills. The findings support the concept of an FASD continuum in some areas of motor development.
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Yang, Pinchen; Lung, For-Wey; Jong, Yuh-Jyh; Hsu, Hsiu-Yi; Chen, Cheng-Chung
2010-01-01
As part of an ongoing clinical service program for children with developmental delay in an Asian developing country, we analyzed the cognitive attributes of 362 Taiwanese children (average age 48.5+/-12.9 month-old) with uneven/delayed cognitive development as they were assessed repeatedly with average duration of 39.7+/-22.6 months from preschool through early childhood. The objectives were to determine the stability and related factors in cognitive scores of these 362 children belonging to three diagnostic subgroups: 181 children with non-autistic mental retardation (MR), 95 children with autism spectrum disorder (ASD) and 64 children with mixed type developmental language disorder (DLD); and to contribute to the accumulation of data on cognitive outcome in preschool children with developmental delay. Analysis revealed that mean initial cognitive score (IQ1) was 64.9+/-16.9 while mean cognitive measure at follow-up (IQ2) was 72.2+/-19.7. Whole group analysis showed the correlation between IQ1 and IQ2 was moderate (r=0.73, p<0.001). Analysis by a general linear model showed only male gender (beta=4.95, p=0.02, C.I.=0.8-9.1) and IQ1 (beta=0.79, p<0.001, C.I.=0.68-0.90) to be significant predictors of IQ2. There were differences among three groups in IQ1 (p<0.001), IQ2 (p<0.001) and IQ change (p<0.001). Correlation coefficients of IQ1 and IQ2 were 0.6 for ASD group, 0.7 for MR group and 0.4 for DLD group respectively. The greatest proportion of children remained within the same cognitive range for both assessment points, however, it is noted that a substantial minority of children changed IQ ranges drastically from preschool through early childhood. Our results suggest that measurements of cognitive function at preschool age for children with developmental delay were valid in the context of a developing country, and the observed change in cognitive scores during follow-up emphasized the need to interpret the initial results of cognitive tests with caution.
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USDA-ARS?s Scientific Manuscript database
Nutrition support is essential for the care of the child with developmental delay. After a thorough evaluation, an individualized intervention plan that accounts for the child’s nutrition status, feeding ability, and medical condition may be determined. Nutrition assessments may be performed at leas...
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Functional Outcome of School Children With History of Global Developmental Delay.
Dornelas, Lílian F; Duarte, Neuza M C; Morales, Nívea M O; Pinto, Rogério M C; Araújo, Renata R H; Pereira, Sílvia A; Magalhães, Lívia C
2016-07-01
This study aimed to investigate the functional and developmental outcomes in school age children diagnosed with global developmental delay before 2 years old and to verify the association between their final diagnosis and environmental and biological factors. Forty-five Brazilian children (26 boys), mean age 95.84 (7.72) months, who attended regular school and were diagnosed with global developmental delay before they were 2 years old had their functions evaluated. Children with global developmental delay were diagnosed with several conditions at school age. Students with greater chances of receiving a diagnosis were those whose mothers were younger at the time their children were born (OR = 1.47, CI = 1.04-2.09, P = .03), who had impaired motor performance, specially balance (OR = 1.33, CI = 1.01-1.75, P = .04), and who needed help during cognitive and behavioral tasks at school (OR = 1.08, CI = 1.00-1.17, P = .048). Interdisciplinary evaluation contributed to defining the specific diagnosis and to identifying the necessity of specialized support. © The Author(s) 2016.
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Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report.
Rossi, N F; Gatto, A R; Cola, P C; Souza, D H; Moretti-Ferreira, D; Giacheti, C M
2009-09-22
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case report and a comparative review of clinical findings on this condition, focusing on speech-language development, cognitive abilities and swallowing evaluation. We suggest that oropharyngeal dysphagia should be further investigated, considering that pulmonary and nutritional disorders affect the survival and quality of life of the patient. As far as we know, this is the first study of a patient with partial trisomy 9p described with oropharyngeal dysphagia.
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Rizzoli-Córdoba, Antonio; Campos-Maldonado, Martha Carmen; Vélez-Andrade, Víctor Hugo; Delgado-Ginebra, Ismael; Baqueiro-Hernández, César Iván; Villasís-Keever, Miguel Ángel; Reyes-Morales, Hortensia; Ojeda-Lara, Lucía; Davis-Martínez, Erika Berenice; O'Shea-Cuevas, Gabriel; Aceves-Villagrán, Daniel; Carrasco-Mendoza, Joaquín; Villagrán-Muñoz, Víctor Manuel; Halley-Castillo, Elizabeth; Sidonio-Aguayo, Beatriz; Palma-Tavera, Josuha Alexander; Muñoz-Hernández, Onofre
The Child Development Evaluation (or CDE Test) was developed in Mexico as a screening tool for child developmental problems. It yields three possible results: normal, slow development or risk of delay. The modified version was elaborated using the information obtained during the validation study but its properties according to the base population are not known. The objective of this work was to establish diagnostic confirmation of developmental delay in children 16- to 59-months of age previously identified as having risk of delay through the CDE Test in primary care facilities. A population-based cross-sectional study was conducted in one Mexican state. CDE test was administered to 11,455 children 16- to 59-months of age from December/2013 to March/2014. The eligible population represented the 6.2% of the children (n=714) who were identified at risk of delay through the CDE Test. For inclusion in the study, a block randomization stratified by sex and age group was performed. Each participant included in the study had a diagnostic evaluation using the Battelle Development Inventory, 2 nd edition. From the 355 participants included with risk of delay, 65.9% were male and 80.2% were from rural areas; 6.5% were false positives (Total Development Quotient ˃90) and 6.8% did not have any domain with delay (Domain Developmental Quotient <80). The proportion of delay for each domain was as follows: communication 82.5%; cognitive 80.8%; social-personal 33.8%; motor 55.5%; and adaptive 41.7%. There were significant differences in the percentages of delay both by age and by domain/subdomain evaluated. In 93.2% of the participants, developmental delay was corroborated in at least one domain evaluated. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.
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Walsh, Sinead; Horgan, Jennifer; May, Richard J; Dymond, Simon; Whelan, Robert
2014-01-01
The Relational Completion Procedure is effective for establishing same, opposite and comparative derived relations in verbally able adults, but to date it has not been used to establish relational frames in young children or those with developmental delay. In Experiment 1, the Relational Completion Procedure was used with the goal of establishing two 3-member sameness networks in nine individuals with Autism Spectrum Disorder (eight with language delay). A multiple exemplar intervention was employed to facilitate derived relational responding when required. Seven of nine participants in Experiment 1 passed tests for derived relations. In Experiment 2, eight participants (all of whom, except one, had a verbal repertoire) were given training with the aim of establishing two 4-member sameness networks. Three of these participants were typically developing young children aged between 5 and 6 years old, all of whom demonstrated derived relations, as did four of the five participants with developmental delay. These data demonstrate that it is possible to reliably establish derived relations in young children and those with developmental delay using an automated procedure. © Society for the Experimental Analysis of Behavior.
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Limited access to special education services for school-aged children with developmental delay.
Twardzik, Erica; Smit, Ellen; Hatfield, Bridget; Odden, Michelle C; Dixon-Ibarra, Alicia; MacDonald, Megan
2018-01-01
Current policy in Oregon limits eligibility of children diagnosed with developmental delay for school-based services. Due to eligibility definitions, children with developmental delay may face additional barriers transitioning from early intervention/early childhood special education into school-based special education services. Examine the relationship between enrollment in school-based special education programs given a change in primary disability diagnosis. Logistic regression models were fit for children who enrolled in early intervention/early childhood special education services with a primary disability diagnosis of developmental delay and changed primary disability diagnosis before third grade (n=5076). Odds of enrollment in future special education were greater in children with a change in primary disability diagnosis after the age of five in comparison to children that had a change in primary disability diagnosis before the age of five, while adjusting for demographic characteristics (adjusted odds ratio: 2.37, 95% CI 1.92, 2.92). Results suggest that children who are diagnosed with a developmental delay and exit early childhood special education due to maximum age of eligibility are more likely to enroll in special education compared to children without a gap in service access. Gaps in service access during early development are associated with the need for supportive services later on in life. Copyright © 2017 Elsevier Ltd. All rights reserved.
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Dai, H; Zhang, V W; El-Hattab, A W; Ficicioglu, C; Shinawi, M; Lines, M; Schulze, A; McNutt, M; Gotway, G; Tian, X; Chen, S; Wang, J; Craigen, W J; Wong, L-J
2017-04-01
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in 10 new subjects with a total of 7 novel deleterious variants; 5 null and 2 missense substitutions. All patients exhibited congenital lactic acidemia, most of them with severe encephalopathic presentation, and global developmental delay. Overall, FBXL4 defects account for at least 0.7% (6 out of 808) of subjects suspected to have a mitochondrial disorder, and as high as 14.3% (4 out of 28) in young children with congenital lactic acidosis and clinical features of mitochondrial disease. Including FBLX4 in the mitochondrial diseases panel should be particularly important for patients with congenital lactic acidosis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
Girirajan, Santhosh; Rosenfeld, Jill A.; Cooper, Gregory M.; Antonacci, Francesca; Siswara, Priscillia; Itsara, Andy; Vives, Laura; Walsh, Tom; McCarthy, Shane E.; Baker, Carl; Mefford, Heather C.; Kidd, Jeffrey M.; Browning, Sharon R.; Browning, Brian L.; Dickel, Diane E.; Levy, Deborah L.; Ballif, Blake C.; Platky, Kathryn; Farber, Darren M.; Gowans, Gordon C.; Wetherbee, Jessica J.; Asamoah, Alexander; Weaver, David D.; Mark, Paul R.; Dickerson, Jennifer; Garg, Bhuwan P.; Ellingwood, Sara A.; Smith, Rosemarie; Banks, Valerie C.; Smith, Wendy; McDonald, Marie T.; Hoo, Joe J.; French, Beatrice N.; Hudson, Cindy; Johnson, John P.; Ozmore, Jillian R.; Moeschler, John B.; Surti, Urvashi; Escobar, Luis F.; El-Kechen, Dima; Gorski, Jerome L.; Kussman, Jennifer; Salbert, Bonnie; Lacassie, Yves; Biser, Alisha; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Deardorff, Matthew A.; Shaikh, Tamim H.; Haan, Eric; Friend, Kathryn L.; Fichera, Marco; Romano, Corrado; Gécz, Jozef; deLisi, Lynn E.; Sebat, Jonathan; King, Mary-Claire; Shaffer, Lisa G.; Eichler, Evan E.
2010-01-01
We report the identification of a recurrent 520-kbp 16p12.1 microdeletion significantly associated with childhood developmental delay. The microdeletion was detected in 20/11,873 cases vs. 2/8,540 controls (p=0.0009, OR=7.2) and replicated in a second series of 22/9,254 cases vs. 6/6,299 controls (p=0.028, OR=2.5). Most deletions were inherited with carrier parents likely to manifest neuropsychiatric phenotypes (p=0.037, OR=6). Probands were more likely to carry an additional large CNV when compared to matched controls (10/42 cases, p=5.7×10-5, OR=6.65). Clinical features of cases with two mutations were distinct from and/or more severe than clinical features of patients carrying only the co-occurring mutation. Our data suggest a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity suggests that this two-hit model may be more generally applicable to neuropsychiatric disease. PMID:20154674
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Cprek, Sarah E.; Williams, Corrine M.; Asaolu, Ibitola; Alexander, Linda A.; Vanderpool, Robin C.
2016-01-01
Objectives (1) Investigate the relationship between three specific positive parenting practices (PPP)—reading to children, engaging in storytelling or singing, and eating meals together as a family—and parent-reported risk of developmental, behavioral, or social delays among children between the ages of 1–5 years in the US. (2) Determine if a combination of these parenting practices has an effect on the outcome. Methods Chi square and multiple logistic regression analyses were used to analyze cross-sectional data from the National Survey of Children's Health 2011/2012 in regards to the relationship between each of the three individual PPP as well as a total PPP score and the child's risk of being developmentally, socially, or behaviorally delayed (N = 21,527). Risk of delay was calculated using the Parents’ Evaluation of Developmental Status Questionnaire, which is a parental self-report measure that has been correlated with diagnosed child delays. These analyses controlled for poverty and parental education. All analyses were completed using SAS Version 9.3. Results A strong correlation was found between each of the three PPP as well as the total PPP score and the child's risk of developmental, social, or behavioral delays (p < 0.05 for each test). These associations were found to have a dose–response relationship (p < 0.05 in all but one analysis). Conclusions Daily engagement in PPP could possibly reduce children's risk of delay, and specifically engaging in all three PPP may have greater benefit. PMID:26100132
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Developmental Trajectories for Children With Dyslexia and Low IQ Poor Readers
2016-01-01
Reading difficulties are found in children with both high and low IQ and it is now clear that both groups exhibit difficulties in phonological processing. Here, we apply the developmental trajectories approach, a new methodology developed for studying language and cognitive impairments in developmental disorders, to both poor reader groups. The trajectory methodology enables identification of atypical versus delayed development in datasets gathered using group matching designs. Regarding the cognitive predictors of reading, which here are phonological awareness, phonological short-term memory (PSTM) and rapid automatized naming (RAN), the method showed that trajectories for the two groups diverged markedly. Children with dyslexia showed atypical development in phonological awareness, while low IQ poor readers showed developmental delay. Low IQ poor readers showed atypical PSTM and RAN development, but children with dyslexia showed developmental delay. These divergent trajectories may have important ramifications for supporting each type of poor reader, although all poor readers showed weakness in all areas. Regarding auditory processing, the developmental trajectories were very similar for the two poor reader groups. However, children with dyslexia demonstrated developmental delay for auditory discrimination of Duration, while the low IQ children showed atypical development on this measure. The data show that, regardless of IQ, poor readers have developmental trajectories that differ from typically developing children. The trajectories approach enables differences in trajectory classification to be identified across poor reader group, as well as specifying the individual nature of these trajectories. PMID:27110928
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He, Wenyin; Sun, Xiaofang; Liu, Lian; Li, Man; Jin, Hua; Wang, Wei-Hua
2014-01-01
Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid blastocysts have clinical significance. In this study, we analyzed 15 previously diagnosed euploid blastocysts that had chromosomal deletion(s) using Agilent oligonucleotide DNA microarray platform and localized the gene location in each deletion. Then, we used OMIM gene map and phenotype database to investigate if these deletions are related with some important genes that cause genetic diseases, especially developmental delay or intellectual disability. As results, we found that the detectable chromosomal deletion size with Agilent microarray is above 2.38 Mb, while the deletions observed in human blastocysts are between 11.6 to 103 Mb. With OMIM gene map and phenotype database information, we found that deletions can result in loss of 81-464 genes. Out of these genes, 34-149 genes are related with known genetic problems. Furthermore, we found that 5 out of 15 samples lost genes in the deleted region, which were related to developmental delay and/or intellectual disability. In conclusion, our data indicates that all human euploid blastocysts with chromosomal deletion(s) are abnormal and transfer of these embryos may cause birth defects and/or developmental and intellectual disabilities. Therefore, the embryos with chromosomal deletion revealed by DNA microarray should not be transferred to the patients, or further gene map and/or phenotype seeking is necessary before making a final decision.
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Sonuga-Barke, Edmund J S
2005-06-01
Until recently, causal models of attention-deficit/hyperactivity disorder (ADHD) have tended to focus on the role of common, simple, core deficits. One such model highlights the role of executive dysfunction due to deficient inhibitory control resulting from disturbances in the frontodorsal striatal circuit and associated mesocortical dopaminergic branches. An alternative model presents ADHD as resulting from impaired signaling of delayed rewards arising from disturbances in motivational processes, involving frontoventral striatal reward circuits and mesolimbic branches terminating in the ventral striatum, particularly the nucleus accumbens. In the present article, these models are elaborated in two ways. First, they are each placed within their developmental context by consideration of the role of person x environment correlation and interaction and individual adaptation to developmental constraint. Second, their relationship to one another is reviewed in the light of recent data suggesting that delay aversion and executive functions might each make distinctive contributions to the development of the disorder. This provides an impetus for theoretical models built around the idea of multiple neurodevelopmental pathways. The possibility of neuropathologic heterogeneity in ADHD is likely to have important implications for the clinical management of the condition, potentially impacting on both diagnostic strategies and treatment options.
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Regalado, Michael; Schneiderman, Janet U; Duan, Lei; Ragusa, Gisele
A parent-child relational framework was used as a method to train pediatric residents in basic knowledge and observation skills for the assessment of child development. Components of the training framework and its preliminary validation as an alternative to milestone-based approaches are described. Pediatric residents were trained during a 4-week clinical rotation to use a semistructured interview and observe parent-child behavior during health visits using clinical criteria for historical information and observed behavior that reflect developmental change in the parent-child relationship. Clinical impressions of concern versus no concern for developmental delay were derived from parent-child relational criteria and the physical examination. A chart review yielded 330 preterm infants evaluated using this methodology at 4 and 15 months corrected age who also had standardized developmental testing at 6 and 18 months corrected age. Sensitivities and specificities were computed to examine the validity of the clinical assessment compared with standardized testing. A subset of residents who completed 50 or more assessments during the rotation was timed at the end of 4 weeks. Parent-child behavioral markers elicited from the history and/or observed during the health visit correlated highly with standardized developmental assessment. Sensitivities and specificities were 0.72/0.98 and 0.87/0.96 at 4 to 6 and 15 to 18 months, respectively. Residents completed their assessments <1 minute on average if they had completed at least 50 supervised assessments. A parent-child relational framework is a potentially efficient and effective approach to training residents in the clinical knowledge and skills of child development assessment. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.
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Charman, Tony; Young, Gregory S; Brian, Jessica; Carter, Alice; Carver, Leslie J; Chawarska, Katarzyna; Curtin, Suzanne; Dobkins, Karen; Elsabbagh, Mayada; Georgiades, Stelios; Hertz-Picciotto, Irva; Hutman, Ted; Iverson, Jana M; Jones, Emily J; Landa, Rebecca; Macari, Suzanne; Messinger, Daniel S; Nelson, Charles A; Ozonoff, Sally; Saulnier, Celine; Stone, Wendy L; Tager-Flusberg, Helen; Webb, Sara Jane; Yirmiya, Nurit; Zwaigenbaum, Lonnie
2017-01-01
We characterized developmental outcomes of a large sample of siblings at familial high-risk of autism spectrum disorder (ASD), who themselves did not have ASD (n = 859), and low-risk controls with no family history of ASD (n = 473). We report outcomes at age 3 years using the Mullen Scales of Early Learning, the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview-Revised (ADI-R) and adaptive functioning on the Vineland Adaptive Behavior Scales. Around 11% of high-risk siblings had mild-to-moderate levels of developmental delay, a rate higher than the low-risk controls. The groups did not differ in the proportion of toddlers with mild-to-moderate language delay. Thirty percent of high-risk siblings had elevated scores on the ADOS, double the rate seen in the low-risk controls. High-risk siblings also had higher parent reported levels of ASD symptoms on the ADI-R and lower adaptive functioning on the Vineland. Males were more likely to show higher levels of ASD symptoms and lower levels of developmental ability and adaptive behavior than females across most measures but not mild-to-moderate language delay. Lower maternal education was associated with lower developmental and adaptive behavior outcomes. These findings are evidence for early emerging characteristics related to the "broader autism phenotype" (BAP) previously described in older family members of individuals with ASD. There is a need for ongoing clinical monitoring of high-risk siblings who do not have an ASD by age 3 years, as well as continued follow-up into school age to determine their developmental and behavioral outcomes. Autism Res 2017, 10: 169-178. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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McDonald, Sheila; Kehler, Heather; Bayrampour, Hamideh; Fraser-Lee, Nonie; Tough, Suzanne
2016-11-01
Understanding factors that protect against early developmental delay among children who are experiencing adversity can inform prevention and early intervention strategies. To identify risk factors for development delay at one year and protective factors for developmental delay in 'at risk' environments (poor maternal mental health and socio-demographic risk). Data was analyzed from 3360 mother-child dyads who participated in the All Our Babies (AOB) pregnancy cohort. Participants completed four questionnaires spanning pregnancy to one year postpartum and provided access to medical records. Risk factors for developmental delay at age one were identified using bivariate methods and multivariable modeling. Protective factors for child development in 'at risk' family environments were identified using bivariate analyses. At one year, 17% of children were developmentally delayed, defined as scoring in the monitoring zone on at least 2 of the 5 developmental domains of the Ages and Stages Questionnaire. Prenatal depression, preterm birth, low community engagement, and non-daily parent-child interaction increased the risk of delay. Protective factors for children in 'at risk' environments included relationship happiness, parenting self-efficacy, community engagement, higher social support, and daily parent-child interaction. The study results suggest that maternal and infant outcomes would be improved, even for vulnerable women, through identification and intervention to address poor mental health and through normalizing engagement with low cost, accessible community resources that can also support parent-child interaction. Copyright © 2016 Elsevier Ltd. All rights reserved.
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Validity of false belief tasks in blind children.
Brambring, Michael; Asbrock, Doreen
2010-12-01
Previous studies have reported that congenitally blind children without any additional impairment reveal a developmental delay of at least 4 years in perspective taking based on testing first-order false-belief tasks. These authors interpret this delay as a sign of autism-like behavior. However, the delay may be caused by testing blind children with false-belief tasks that require visual experience. Therefore, the present study gave alternative false-belief tasks based on tactile or auditory experience to 45 congenitally blind 4-10-year-olds and 37 sighted 3-6-year-olds. Results showed criterion performance at 80 months (6; 8 years) in blind children compared with 61 months (5; 1 years) in sighted controls. It is concluded that this 19-month (1; 7 year) difference, which is comparable with delays in other developmental areas, is a developmental delay caused by the fact of congenital blindness rather than a sign of a psychopathological disorder of autism-like behavior.
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Development assessment of HIV exposed children aged 6-18 months: a cohort study from North India.
Rajan, Remya; Seth, Anju; Mukherjee, Sharmila B; Chandra, Jagdish
2017-11-01
HIV exposed children are vulnerable to developmental delay irrespective of their HIV status due to combined effect of risk factors like poverty, prenatal drug exposure, stress and chronic illness in family and malnutrition. This cohort study assessed the development of 50 HIV exposed children aged 6-18 months at a Pediatric Centre of Excellence in HIV care in India. The development was assessed using Development Assessment Scale for Indian Infants (DASII) at enrolment, 3 and 6 months later. The development quotient (DQ) scores and proportion of children with developmental delay (DQ ≤ 70) were compared among two sub-groups, HIV infected (HI) and HIV exposed uninfected (HEU) children. The various social and clinical factors affecting development were studied by univariate and multivariate analysis. Prevalence of developmental delay was 2.4% in the HEU (n = 41), and 33.3% in HI (n = 9). The DQ of HI was significantly lower than that of HEU at all three assessments. The DQ of HI were also significantly lower compared to the HEU at ages 12.1-18 months (83.37 ± 20.73 vs 94.68 ± 5.13, p = 0.005) and 18.1-24 months (84.55 ± 15.35 vs 94.63 ± 5.86, p = 0.006) respectively. The development of HEU was adversely affected by lower socioeconomic status and presence of wasting. In addition, development of HI was also adversely influenced by presence of stunting and opportunistic infections, advanced disease stage and shorter ART duration. We conclude that with optimum care, HEU can have a normal development, while a considerable proportion of HI may continue to have delayed development.
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Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Christiane
2017-01-01
Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits. We identified four different truncating mutations, two novel missense mutations within the forkhead domain and an intragenic deletion in FOXP2 in 14 individuals from eight unrelated families. Mutations occurred de novo in four families and were inherited from an affected parent in the other four. All index patients presented with various manifestations of language and speech impairment. Apart from two individuals with normal onset of speech, age of first words was between 4 and 7 years. Articulation difficulties such as slurred speech, dyspraxia, stuttering and poor pronunciation were frequently noted. Motor development was normal or only mildly delayed. Mild cognitive impairment was reported for most individuals. By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, we considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
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Manickam, Kandamurugu; Donoghue, Daniel J; Meyer, April N; Snyder, Pamela J; Prior, Thomas W
2014-01-01
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is an extremely rare severe skeletal dysplasia characterized by significant developmental delay, brain structural abnormalities, hearing loss, and acanthosis nigricans. The disorder is the result of a single missense mutation at codon 650 (p.Lys650Met) in the fibroblast growth factor receptor 3 gene (FGFR3). We describe a child who initially presented with a mild achondroplasia or hypochondroplasia like phenotype. Molecular analysis of the FGFR3 gene showed the common SADDAN mutation and a second novel mutation at codon 651 (p.Thr651Pro). Both mutations were shown to occur on the same allele (cis) and de novo. Transient transfection studies with FGFR3 double mutant constructs show that the p.Thr651Pro mutation causes a dramatic decrease in constitutive receptor kinase activity than that observed by the p.Lys650Met mutation. Our data suggest that the molecular effect by the p.Thr651Pro is to elicit a conformational change that decreases the FGFR3 tyrosine kinase activity, which is constitutively activated by the SADDAN mutation. Due to the inheritance of both a gain-of-function and a loss-of-function mutation, we conclude that a reduction of constitutive activation caused the milder skeletal phenotype. Although the occurrence of double mutations are expected to be rare, the presence of other FGFR3 modifiers may be responsible for some of the clinically discrepant skeletal dysplasia cases. © 2013 Wiley Periodicals, Inc.
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Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K; Lüdecke, Hermann-Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M; Wieland, Thomas; Andrieux, Joris; Strom, Tim M; Wieczorek, Dagmar; Dieux-Coëslier, Anne; Zink, Alexander M
2017-02-01
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay. The present report describes three patients without anophthalmia/microphthalmia and loss-of-function mutations or microdeletions of SOX2 who had been investigated in a "genotype first" manner due to intellectual disability/developmental delay using whole exome sequencing or chromosomal microarray analyses. This result prompted us to perform SOX2 Sanger sequencing in 192 developmental delay/intellectual disability patients without anophthalmia or microphthalmia. No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia. In our three patients and four further, reported "genotype first" SOX2 microdeletion patients, anophthalmia/microphthalmia was present in less than half of the patients. Thus, SOX2 is another example of a gene whose clinical spectrum is broadened by the generation of "genotype first" findings using hypothesis-free, genome-wide methods. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.
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So, Joyce; Müller, Ines; Kunath, Melanie; Herrmann, Susanne; Ullmann, Reinhard; Schweiger, Susann
2008-01-01
Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked form is caused by mutations in the MID1 gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No MID1 mutation was found, but subsequent sub-megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance ("Greek helmet facies"), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS. (c) 2007 Wiley-Liss, Inc.
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Chester, N; Kuo, F; Kozak, C; O'Hara, C D; Leder, P
1998-11-01
Bloom's syndrome is a human autosomal genetic disorder characterized at the cellular level by genome instability and increased sister chomatid exchanges (SCEs). Clinical features of the disease include proportional dwarfism and a predisposition to develop a wide variety of malignancies. The human BLM gene has been cloned recently and encodes a DNA helicase. Mouse embryos homozygous for a targeted mutation in the murine Bloom's syndrome gene (Blm) are developmentally delayed and die by embryonic day 13.5. The fact that the interrupted gene is the homolog of the human BLM gene was confirmed by its homologous sequence, its chromosomal location, and by demonstrating high numbers of SCEs in cultured murine Blm-/- fibroblasts. The proportional dwarfism seen in the human is consistent with the small size and developmental delay (12-24 hr) seen during mid-gestation in murine Blm-/- embryos. Interestingly, the growth retardation in mutant embryos can be accounted for by a wave of increased apoptosis in the epiblast restricted to early post-implantation embryogenesis. Mutant embryos do not survive past day 13.5, and at this time exhibit severe anemia. Red blood cells and their precursors from Blm-/- embryos are heterogeneous in appearance and have increased numbers of macrocytes and micronuclei. Both the apoptotic wave and the appearance of micronuclei in red blood cells are likely cellular consequences of damaged DNA caused by effects on replicating or segregating chromosomes.
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Chronic Disease and Perceived Developmental Progression in Adolescence.
ERIC Educational Resources Information Center
Seiffge-Krenke, Inge
1998-01-01
Examined whether chronic illness causes delays in adolescents' perceived developmental status, using annually-completed questionnaires from insulin-dependent and healthy adolescents. Found that, in first year of study, diabetic adolescents reported delays in physical maturity and an independent lifestyle compared with healthy peers. Overall…
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Gursel, Ferda
2014-02-01
The purpose of this study was to assess an intervention program on the fundamental movement skill of students with and without hearing impairment, using the Test of Gross Motor Development-2 (TGMD-2) standardized Turkish norm. Preschool children with and without hearing impairment participated in this study. At the beginning of the study, most of the children with hearing impairment demonstrated developmental delay on the Locomotor subscale (6/7), as did about one-third (4/11) of the children without hearing impairment. For the Object control subscale, 4/7 of children with hearing impairment and none without hearing impairment showed developmental delay prior to the intervention program. After the intervention program, 3/7 children with hearing impairment had developmental delay on the Locomotor subscale. On the Object control subscale, 2/7 children with hearing impairment and none without hearing impairment showed developmental delay. The six-week intervention program improved TGMD-2 scores of children with hearing impairment, yet did not yield statistically significant improvement of fundamental movement skills.
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34 CFR 303.111 - State definition of developmental delay.
Code of Federal Regulations, 2013 CFR
2013-07-01
... child's development; and (b) Specify the level of developmental delay in functioning or other comparable... INFANTS AND TODDLERS WITH DISABILITIES State Eligibility for a Grant and Requirements for a Statewide... to appropriately identify infants and toddlers with disabilities who are in need of services under...
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34 CFR 303.111 - State definition of developmental delay.
Code of Federal Regulations, 2014 CFR
2014-07-01
... child's development; and (b) Specify the level of developmental delay in functioning or other comparable... INFANTS AND TODDLERS WITH DISABILITIES State Eligibility for a Grant and Requirements for a Statewide... to appropriately identify infants and toddlers with disabilities who are in need of services under...
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34 CFR 303.111 - State definition of developmental delay.
Code of Federal Regulations, 2012 CFR
2012-07-01
... child's development; and (b) Specify the level of developmental delay in functioning or other comparable... INFANTS AND TODDLERS WITH DISABILITIES State Eligibility for a Grant and Requirements for a Statewide... to appropriately identify infants and toddlers with disabilities who are in need of services under...
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Gunduz, Mehmet
2016-01-01
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD). PMID:27882258
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John, Neetha; Rajasekhar, Moka; Girisha, Katta Mohan; Sharma, Podila Satya Venkata Narasimha; Gopinath, Puthiya Mundyat
2013-01-01
BACKGROUND: Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability. MATERIALS AND METHODS: A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland. RESULTS: All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients. CONCLUSION: Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR. PMID:24019617
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Balci, Tugce B; Davila, Jorge; Lewis, Denice; Boafo, Addo; Sell, Erick; Richer, Julie; Nikkel, Sarah M; Armour, Christine M; Tomiak, Eva; Lines, Matthew A; Sawyer, Sarah L
2018-01-01
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease. To our knowledge, this report constitutes the first detailed description of PTEN-related white matter changes in adult patients and in children with normal development and intelligence. We present a detailed assessment of the neuropsychological phenotype of our patients and discuss the relationship between the wide array of neuropsychiatric features and observed white matter findings in the context of these individuals. © 2017 Wiley Periodicals, Inc.
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Oral Health Characteristics and Dental Rehabilitation of Children with Global Developmental Delay.
Kumar, Saurabh; Pai, Deepika; Saran, Runki
2017-01-01
Global developmental delay (GDD) is a chronic neurological disturbance which includes defects in one or more developmental domains. The developmental domain can be motor, cognitive, daily activities, speech or language, and social or personal development. The etiology for GDD can be prenatal, perinatal, or postnatal. It can be diagnosed early in childhood as the delay or absence of one or more developmental milestones. Hence the role of pedodontist and pediatricians becomes more crucial in identifying this condition. The diagnosis of GDD requires a detailed history including family history and environmental risk factors followed by physical and neurological examinations. Investigations for GDD include diagnostic laboratory tests, brain imaging, and other evidence-based evaluations. GDD affects multiple developmental domains that not only have direct bearing on maintenance of oral health, but also require additional behavior management techniques to deliver optimal dental care. This paper describes two different spectra of children with GDD. Since the severity of GDD can vary, this paper also discusses the different behavior management techniques that were applied to provide dental treatment in such children.
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Bilingual Children's Lexical Strategies in a Narrative Task
ERIC Educational Resources Information Center
Barbosa, Poliana; Nicoladis, Elena; Keith, Margaux
2017-01-01
We investigated how bilinguals choose words in a narrative task, contrasting the possibilities of a developmental delay vs. compensatory strategies. To characterize a developmental delay, we compared younger (three to five years) and older (seven to ten years) children's lexicalization of target words (Study 1). The younger children told shorter…
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ERIC Educational Resources Information Center
Fenning, Rachel M.; Baker, Bruce L.; Juvonen, Jaana
2011-01-01
This study examined parent-child emotion discourse, children's independent social information processing, and social skills outcomes in 146 families of 8-year-olds with and without developmental delays. Children's emergent social-cognitive understanding (internal state understanding, perspective taking, and causal reasoning and problem solving)…
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Parenting Children with Developmental Delays: The Role of Positive Beliefs
ERIC Educational Resources Information Center
Paczkowski, Emilie; Baker, Bruce L.
2008-01-01
Parents of children with developmental delays consistently report higher levels of child behavior problems and also parenting stress than parents of typically developing children. This study examined how mothers' positive beliefs influence the relation between children's behavior problems and mothers' parenting stress among families of children…
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ERIC Educational Resources Information Center
Rogow, Sally M.
1983-01-01
Social routines, which combined nursery rhymes with carefully planned action sequences, were used to help two young developmentally delayed, visually handicapped children acquire communicative responses. Midway through the 3-year project, one child responded to words for objects, people, and actions. (Author/SEW)
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Sleep Patterns in Preschool-Age Children with Autism, Developmental Delay, and Typical Development
ERIC Educational Resources Information Center
Goodlin-Jones, Beth L.; Tang, Karen; Liu, Jingyi; Anders, Thomas F.
2008-01-01
The study investigates sleep disorders by assessing the quantity and quality of sleep in preschool children with autism and comparing them with developmental delay without autism, and typical development. The results prove that sleep patterns are different in preschool children across all three categories.
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Identification of Early Risk Factors for Developmental Delay
ERIC Educational Resources Information Center
Delgado, Christine E. F.; Vagi, Sara J.; Scott, Keith G.
2007-01-01
Statewide birth certificate and preschool exceptionality records were integrated to identify risk factors for developmental delay (DD). Epidemiological methods were used to investigate both individual-level and population-level risk for DD associated with a number of child and maternal factors. Infants born with very low birth weight were at the…
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Teaching Ecologically-Based Communication Skills to Persons Who Are Developmentally Delayed.
ERIC Educational Resources Information Center
Sousie, Susan P.
The paper offers a framework for the design, implementation, and evaluation of appropriate, effective communication instructional programs for persons who are severely developmentally delayed. The use of an ecological approach that incorporates the instruction of communication skills with that of activities of daily living (ADL) is emphasized.…
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Soli, Sigfrid D; Zheng, Yun; Meng, Zhaoli; Li, Gang
2012-09-01
The purpose of this study was to develop a practical mean for clinical evaluation of early pediatric language development by establishing developmental trajectories for receptive and expressive vocabulary growth in children between 6 and 32 months of age using a simple, time-efficient assessment tool. Simplified short form versions of the Words and Gestures and Words and Sentences vocabulary inventories in the Mandarin Communicative Development Inventory [1] were developed and used to assess early language development in developmentally normal children from 6 to 32 months of age during routine health checks. Developmental trajectories characterizing the rate of receptive and expressive vocabulary growth between 6 and 32 months of age are reported. These trajectories allow the equivalent age corresponding to a score to be determined after a brief structured interview with the child's parents that can be conducted in a busy clinical setting. The simplified short forms of the Mandarin Communicative Development Inventories can serve as a clinically useful tool to assess early child language development, providing a practical mean of objectively assessing early language development following early interventions to treat young children with hearing impairment as well as speech and language delays. Objective evidence of language development is essential for achievement of effective (re)habilitation outcomes. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
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Deficits in Top-Down Sensory Prediction in Infants At Risk due to Premature Birth.
Emberson, Lauren L; Boldin, Alex M; Riccio, Julie E; Guillet, Ronnie; Aslin, Richard N
2017-02-06
A prominent theoretical view is that the brain is inherently predictive [1, 2] and that prediction helps drive the engine of development [3, 4]. Although infants exhibit neural signatures of top-down sensory prediction [5, 6], in order to establish that prediction supports development, it must be established that deficits in early prediction abilities alter trajectories. We investigated prediction in infants born prematurely, a leading cause of neuro-cognitive impairment worldwide [7]. Prematurity, independent of medical complications, leads to developmental disturbances [8-12] and a broad range of developmental delays [13-17]. Is an alteration in early prediction abilities the common cause? Using functional near-infrared spectroscopy (fNIRS), we measured top-down sensory prediction in preterm infants (born <33 weeks gestation) before infants exhibited clinically identifiable developmental delays (6 months corrected age). Whereas preterm infants had typical neural responses to presented visual stimuli, they exhibited altered neural responses to predicted visual stimuli. Importantly, a separate behavioral control confirmed that preterm infants detect pattern violations at the same rate as full-terms, establishing selectivity of this response to top-down predictions (e.g., not in learning an audiovisual association). These findings suggest that top-down sensory prediction plays a crucial role in development and that deficits in this ability may be the reason why preterm infants experience altered developmental trajectories and are at risk for poor developmental outcomes. Moreover, this work presents an opportunity for establishing a neuro-biomarker for early identification of infants at risk and could guide early intervention regimens. Copyright © 2017 Elsevier Ltd. All rights reserved.
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Twins and virtual twins: Do genetic (as well as experiential) factors affect developmental risks?
Segal, Nancy L; Tan, Tony Xing; Graham, Jamie L
2015-08-01
Factors underlying developmental delays and psychosocial risks are of interest to international adoption communities. The current study administered a Pre-Adoption Adversity (PAA) Questionnaire to mostly American parents raising (a) adopted Chinese twins or (b) same-age unrelated adopted siblings. A goal was to replicate earlier analyses of pre-adoption adversity/adjustment among adopted preschool-age Chinese girls. A second goal was to conduct genetic analyses of four content areas (Developmental Delays at Adoption, Initial Adaptation to Adoption, Crying/Clinging, and Refusal/Avoidance) derived from the PAA Questionnaire. A key finding was that age at adoption added less than other predictors to adoptees' externalizing and internalizing behaviors. Family factors (e.g., parental education) contributed significantly to behavioral outcomes among the adopted Chinese twins. Genetic effects were indicated for all four content areas, with shared environmental effects evident for Developmental Delays at Adoption and Crying/Clinging. Future investigators should consider incorporating genetically sensitive designs into developmental research programs. Copyright © 2015 Elsevier Inc. All rights reserved.
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Pedrini, Maura; Moraleda, Cinta; Macete, Eusebio; Gondo, Kizito; Brabin, Bernard J; Menéndez, Clara
2015-08-01
To evaluate the clinical, nutritional and neurodevelopment status of HIV-infected children in a high HIV prevalence area. All HIV-infected children under 15 years of age attending an outpatient clinic of Mozambique between April and May 2010 were recruited. Clinical data were collected and physical examination was performed. In all, 140 children were recruited. The median age at HIV diagnosis was 2.1 years. Fifty-one percent of the children were classified in WHO clinical Stages 3 or 4. Median age of antiretroviral treatment commencement was 3.9 years. Overall, 68% were undernourished, mainly stunted. Forty-four percent failed to pass the national psychomotor developmental test. The pathways for early HIV diagnosis and start of antiretrovirals in children should be improved in Mozambique. Malnutrition, especially stunting, and developmental delay were highly prevalent. Further research focused on early diagnosis of neurocognitive disorders and on the indications of antiretroviral treatment commencement based on chronic malnutrition is required. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.
Meijer, Inge Anita; Vanasse, Michel; Nizard, Sonia; Robitaille, Yves; Rossignol, Elsa
2014-01-01
Erythromelalgia due to heterozygous gain-of-function SCN9A mutations usually presents as a pure sensory-autonomic disorder characterized by recurrent episodes of burning pain and redness of the extremities. We describe a patient with an unusual phenotypic presentation of gross motor delay, childhood-onset erythromelalgia, extreme visceral pain episodes, hypesthesia, and self-mutilation. The investigation of the patient's motor delay included various biochemical analyses, a comparative genomic hybridization array (CGH), electromyogram (EMG), and muscle biopsy. Once erythromelalgia was suspected clinically, the SCN9A gene was sequenced. The EMG, CGH, and biochemical tests were negative. The biopsy showed an axonal neuropathy and neurogenic atrophy. Sequencing of SCN9A revealed a heterozygous missense mutation in exon 7; p.I234T. This is a case of global motor delay and erythromelalgia associated with SCN9A. The motor delay may be attributed to the extreme pain episodes or to a developmental perturbation of proprioceptive inputs. Copyright © 2013 Wiley Periodicals, Inc.
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Tanaka, Akemi J; Cho, Megan T; Retterer, Kyle; Jones, Julie R; Nowak, Catherine; Douglas, Jessica; Jiang, Yong-Hui; McConkie-Rosell, Allyn; Schaefer, G Bradley; Kaylor, Julie; Rahman, Omar A; Telegrafi, Aida; Friedman, Bethany; Douglas, Ganka; Monaghan, Kristin G; Chung, Wendy K
2016-01-01
We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are consistent with recently reported de novo mutations in CHAMP1 in five other individuals with similar features. CHAMP1 is a zinc finger protein involved in kinetochore-microtubule attachment and is required for regulating the proper alignment of chromosomes during metaphase in mitosis. Mutations in CHAMP1 may affect cell division and hence brain development and function, resulting in developmental delay and ID.
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Effects of overweight and obesity on motor and mental development in infants and toddlers.
Cataldo, R; Huang, J; Calixte, R; Wong, A T; Bianchi-Hayes, J; Pati, S
2016-10-01
A consequence of childhood obesity may be poor developmental outcomes. This study aimed to examine the relationship between weight and developmental delays in young children. We conducted a secondary analysis of the Early Childhood Longitudinal Study Birth Cohort data. Logistic regression models quantified the association between different weight statuses (normal weight <85th, overweight ≥90th, obese ≥95th percentile for weight) and delays in motor and mental development. Children classified as overweight in both waves had higher percentages of delays in wave 2 (motor [7.5 vs. 6.2-6.4%], mental [8.6 vs. 5.9-6.7%]), as well as wave 1 and/or wave 2 (motor [14.8 vs. 10.9-13.0%], mental [11.9 vs. 9.0-10.1%]), compared with other children. This association was also found in children who were obese at both time points in wave 2 (motor delay [8.9 vs. 4.9-7.3%], mental delay [10.3 vs. 6.0-7.2%]), as well as wave 1 and/or wave 2 (motor delay [14.5 vs. 10.9-12.9%], mental delay [14.1 vs. 9.4-10.1%]). In the adjusted models, children classified as always obese were more likely to have a mental delay in wave 2 (adjusted odds ratio [aOR] 1.89, 95% confidence interval [CI]: 1.21-2.95) as well as wave 1 and/or wave 2 (aOR 1.56, 95% CI: 1.08-2.26). These children were also more likely to have motor delay (aOR 1.47, 95% CI: 1.02-2.13) in wave 1 and/or wave 2. Overweight children are more likely than their normal-weight peers to have motor and mental developmental delays. Preventing obesity during infancy may facilitate reducing developmental delays in young children. © 2015 World Obesity.
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Marble, Michael; Pridjian, Gabriella
2002-04-01
We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome. Copyright 2002 Wiley-Liss, Inc.
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Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and Developmental Delay
ERIC Educational Resources Information Center
Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva
2014-01-01
The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…
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Predicting Declassification of Preschool Disabled Students through a Combination of Variables
ERIC Educational Resources Information Center
DeFina, Cynthia E.
2017-01-01
Early learning programs impact students, especially those with developmental delays. These formative years play a vital role in the overall development of the students' skills. School districts want to reach these special education students during these crucial years to help close the developmental delay gap. This quantitative study examines the…
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Graduated Guidance Delivered by Parents to Teach Yoga to Children with Developmental Delays
ERIC Educational Resources Information Center
Gruber, Deborah J.; Poulson, Claire L.
2016-01-01
We evaluated the effects of a parent-implemented intervention to teach yoga poses to 3 children with developmental delays. Graduated guidance, provided by the participants' mothers, was introduced in a multiple baseline design across the participants. With the introduction of intervention, imitation of the response chains increased over baseline…
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ERIC Educational Resources Information Center
Robinson, Merideth; Neece, Cameron L.
2015-01-01
Studies have found that low marital satisfaction, parenting stress, and child behavior problems are linked in families of children with developmental delays (DD). However, previous investigations examining the relationships between parenting stress, child behavior problems, and marital satisfaction rarely examine the interrelationships of these…
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Paternal versus Maternal Coping Styles with Child Diagnosis of Developmental Delay
ERIC Educational Resources Information Center
Barak-Levy, Yael; Atzaba-Poria, Na'ama
2013-01-01
Parents of children with disabilities vary in their reaction to their children's diagnosis. The current study focused on fathers in addition to mothers and examined their resolution and coping styles when having children diagnosed with developmental delay (DD). Sixty-five fathers and 71 mothers were interviewed using the reaction to the diagnosis…
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ERIC Educational Resources Information Center
Hoffman, Lorri J.
This practicum report describes the design and implementation of an oral motor program to increase the verbal communication skills of seven pre-kindergarten children with developmental delays, including hypotonia in oral motor development with moderate to severe articulation difficulties. Collaborative planning by the pre-kindergarten special…
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Preschool Children with and without Developmental Delay: Risk, Parenting, and Child Demandingness
ERIC Educational Resources Information Center
Brown, Mallory A.; McIntyre, Laura Lee; Crnic, Keith A.; Baker, Bruce L.; Blacher, Jan
2011-01-01
Although past literature has established relations between early child risk factors, negative parenting, and problematic child behavior, the nature of these interrelations and pathways of influence over time remains largely unknown, especially in children with developmental delays or disabilities. In the current study, data were drawn from the…
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Perceptions of Early Intervention Services: Adolescent and Adult Mothers in Two States
ERIC Educational Resources Information Center
Thompson, Stacy D.; Bruns, Deborah A.
2013-01-01
Early intervention (EI) provides critical services to families with young children who have diagnosed disabilities, developmental delays, or who are at-risk for developmental delays. Very little is known about the experiences of adolescent mothers who have children who qualify for EI services. The authors investigated the perceptions of adolescent…
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ERIC Educational Resources Information Center
Baranek, Grace T.; Boyd, Brian A.; Poe, Michele D.; David, Fabian J.; Watson, Linda R.
2007-01-01
The nature of hyperresponsiveness to sensory stimuli in children with autism, using a new observational measure, the SPA, was examined. Three groups of young participants were assessed (autism, developmental delay, typical). Across all groups, MA was a predictor of hyperresponsiveness, such that aversion to multisensory toys decreased as MA…
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ERIC Educational Resources Information Center
Mullen, Stuart; Dixon, Mark R.; Belisle, Jordan; Stanley, Caleb
2017-01-01
The current study sought to evaluate the efficacy of a stimulus equivalence training procedure in establishing auditory-tactile-visual stimulus classes with 2 children with autism and developmental delays. Participants were exposed to vocal-tactile (A-B) and tactile-picture (B-C) conditional discrimination training and were tested for the…
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The Negative Effects of Positive Reinforcement in Teaching Children with Developmental Delay.
ERIC Educational Resources Information Center
Biederman, Gerald B.; And Others
1994-01-01
This study compared the performance of 12 children (ages 4 to 10) with developmental delay, each trained in 2 tasks, one through interactive modeling (with or without verbal reinforcement) and the other through passive modeling. Results showed that passive modeling produced better rated performance than interactive modeling and that verbal…
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Gastrointestinal Problems in Children with Autism, Developmental Delays or Typical Development
ERIC Educational Resources Information Center
Chaidez, Virginia; Hansen, Robin L.; Hertz-Picciotto, Irva
2014-01-01
To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the CHildhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior…
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ERIC Educational Resources Information Center
Buis, Joyce M.; Schane, Catherine S.
1980-01-01
Background, rationale, and techniques for using movement exploration to teach preswimming skills to developmentally delayed persons are given. Objectives (beyond the primary one of safety) of such a program include body awareness, spatial awareness, movement, and perceptual motor functions. Guidelins for activity selection and adaptation are…
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Mathematical problems in children with developmental coordination disorder.
Pieters, Stefanie; Desoete, Annemie; Van Waelvelde, Hilde; Vanderswalmen, Ruth; Roeyers, Herbert
2012-01-01
Developmental coordination disorder (DCD) is a heterogeneous disorder, which is often co-morbid with learning disabilities. However, mathematical problems have rarely been studied in DCD. The aim of this study was to investigate the mathematical problems in children with various degrees of motor problems. Specifically, this study explored if the development of mathematical skills in children with DCD is delayed or deficient. Children with DCD performed significantly worse for number fact retrieval and procedural calculation in comparison with age-matched control children. Moreover, children with mild DCD differed significantly from children with severe DCD on both number fact retrieval and procedural calculation. In addition, we found a developmental delay of 1 year for number fact retrieval in children with mild DCD and a developmental delay of 2 years in children with severe DCD. No evidence for a mathematical deficit was found. Diagnostic implications are discussed. Copyright © 2012 Elsevier Ltd. All rights reserved.
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Lin, Chien-Lin; Lin, Chin-Kai; Yu, Jia-Jhen
2018-01-01
Introduction This study aims to explore the impact of Parent Participation Program on the development of developmental delay children. Methods Pretest-posttest equivalent-group experimental design study was used in this paper. A total of 30 pairs of developmental delay children aged 0–72 months and their parents participated into this study. They were divided into two groups, namely control group and experimental group, according to parents’ wishes. The objects of study in control group received 16 courses of direct rehabilitation therapy; those in experimental group received 8 courses of direct rehabilitation therapy and 8 courses of instruction and tracking of Parent Participation Program. The duration of the intervention was 8 weeks. All cases should be evaluated before and after the intervention, to analyze the difference before and after intervention and among groups. The statistical methods in this paper included descriptive analysis, Chi-square test, independent sample t-test, pair-sample t-test. Results and conclusion The intervention of Parent Participation Occupational Program has positive impact on the development of developmental delay children in various fields. Among all the intervention results, the progress of the experimental group is 1.895 times more than that of the control group. With parent involvement, Parent Participation Occupational Therapy can promote the cognitive ability, language ability, action ability (gross and fine movement), social competence and self-care ability of children with developmental delay. Finally, the researcher presents suggestions and directions for future research in accordance with the results. PMID:29503546
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Heubrock, D
2001-12-01
Münchhausen by proxy syndrome (MBPS) is a rare but dramatic variant of child abuse. In MBPS adults, mostly the mother, invent, manipulate, or produce the child's illness, and as a consequence the child has to undergo numerous diagnostic or treatment procedures. Typically, valid information about the etiology of the child's illness is withheld by the parents, and reversible symptoms vanish, when the child and the responsible adults are separated. Although valid statistical data about the epidemiology of MBPS are not available, MBPS should be considered more often than normally recognized. Neurological and neuropsychological presentations including developmental delays and learning problems appear to be common among MBPS cases so that clinical child neuropsychologists should be aware of this problem and consider MBPS at least in some of the mysterious cases that come to their attention. The present study describes a case of MBPS in which neurological and neuropsychological symptoms predominate. It presents a MBPS variant that is characterized by developmental delays and learning problems induced by unnecessary isolation at home, hospitalization, and treatment procedures. In the present case MBPS was at first suspected following neuropsychological assessment, since some of the main features of non-authenticity of symptom presentation gave cause for suspecting deceptive behavior on the mother's (and possibly also on the maternal grandmother's) side.
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Liu, Shu; Wang, Zhiqing; Wei, Sisi; Liang, Jinqun; Chen, Nuan; OuYang, Haimei; Zeng, Weihong; Chen, Liying; Xie, Xunjie; Jiang, Jianhui
2018-04-14
Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known. © 2018 S. Karger AG, Basel.
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GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.
Renaud, Deborah; Brodsky, Michael
2016-01-01
GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A. Less than ten patients, confirmed by molecular analysis, have been described in the literature.A 12-month-old Hmong girl presented to the neurometabolic clinic for evaluation of global developmental delay, hypotonia, and cherry red spots. The parents were not known to be consanguineous. Her examination was remarkable for hypotonia with hyperreflexia and excessive startling. The head circumference was normal. An extensive neurometabolic evaluation was negative.Developmental regression began at 14 months of age. Retinal examination at 16 months of age disclosed 4+ cherry red/black spots with "heaped up" ring of whitish infiltrate surrounding both foveae but no evidence of optic atrophy or peripheral retinal abnormalities. Repeat magnetic resonance imaging (MRI) scan at 17 months of age revealed delayed but interval myelination associated with abnormal signal intensity of the bilateral thalami presenting as T2 hyperintensity of the posterior thalami in the region of the pulvinar nuclei and T2 hypointensity in the anterior thalami. Sequencing of the GM2A gene revealed a homozygous c.160 G>T mutation, predicted to result in a premature protein termination p. Glu54*.
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Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F.; Dimova, Petia; Guerrero-López, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose M.; Møller, Rikke S.; Stephani, Ulrich; Striano, Pasquale; Talvik, Tiina; Von Spiczak, Sarah; Weber, Yvonne; Zara, Federico
2015-01-01
We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast cell line. We show that the premature stop mutations in AP4S1 result in a reduction of all AP-4 subunits and loss of AP-4 complex assembly. Recruitment of the AP-4 accessory protein tepsin, to the membrane was also abolished. In retrospect, the clinical phenotype in the family is consistent with previous reports of the AP-4 deficiency syndrome. Our study reports the second family with mutations in AP4S1 and describes the first two patients with loss of AP4S1 and seizures. We further discuss seizure phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies. PMID:25552650
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Neurodevelopmental delay associated with nonconvulsive status epilepticus in a toddler.
Shinawi, M; Shahar, E
2001-03-01
Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who presented with global developmental delay as the main manifestation of nonconvulsive status epilepticus. Following valproic acid treatment, her motor, cognitive, and speech delays had gradually subsided and nearly completely resolved, in concert with normalization of electroencephalography (EEG). Hence, given a possible, albeit rare, presentation of nonconvulsive status epilepticus with global developmental delay, we suggest that EEG should be recommended in any infant who manifests neurodevelopmental delay.
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Tede, Zoma; Ophir Cohen, Michal; Riskin, Arieh; Tirosh, Emanuel
2016-08-01
Healthy social-emotional development in early childhood is important as an indicator of general well-being and for positive outcome in later childhood. Therefore, screening for potential social emotional problems is valuable. Accurate, usable, and affordable screening tools have been especially difficult to develop. The cross cultural validity of a screening instrument should be assessed. The aim of the current study was to investigate the reliability and validity of the Greenspan social-emotional growth chart (GSEGC) in Israeli children of three diagnostic groups: (1) Autistic spectrum disorder (ASD) (2) Developmental language disorder (DLD) and (3) Developmental motor delay (DMD). An internal reliability of alpha of 0.95 for the GSEGC standardized for age score and of 0.78 for the sensory processing sub scores was found. A confirmatory factor analysis (CFA) using a 5-factor model confirmed an acceptable fit. Positive (62.86%) and negative (94.73%) predictive values also support the clinical usefulness of the GSEGC in identifying children at low risk for ASD. The GSEGC appears to be a promising tool for the screening of social emotional problems in early childhood. Further studies in different cultures are warranted. Copyright © 2016 Elsevier Ltd. All rights reserved.
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Stich, Heribert L; Baune, Bernhard Th; Caniato, Riccardo N; Mikolajczyk, Rafael T; Krämer, Alexander
2012-12-05
Even minor abnormalities of early child development may have dramatic long term consequences. Accurate prevalence rates for a range of developmental impairments have been difficult to establish. Since related studies have used different methodological approaches, direct comparisons of the prevalence of developmental delays are difficult. The understanding of the key factors affecting child development, especially in preschool aged children remains limited. We used data from school entry examinations in Bavaria to measure the prevalence of developmental impairments in pre-school children beginning primary school in 1997-2009. The developmental impairments of all school beginners in the district of Dingolfing-Landau, Bavaria were assessed using modified "Bavarian School Entry Model" examination from 1997 to 2009 (N=13,182). The children were assessed for motor, cognitive, language and psychosocial impairments using a standardised medical protocol. Prevalence rates of impairments in twelve domains of development were estimated. Using uni- and multivariable logistic regression models, association between selected factors and development delays were assessed. The highest prevalence existed for impairments of pronunciation (13.8%) followed by fine motor impairments (12.2%), and impairments of memory and concentration (11.3%) and the lowest for impairments of rhythm of speech (3.1%). Younger children displayed more developmental delays. Male gender was strongly associated with all developmental impairments (highest risk for fine motor impairments = OR 3.22, 95% confidence interval 2.86-3.63). Preschool children with siblings (vs. children without any siblings) were at higher risk of having impairments in pronunciation (OR 1.31, 1.14-1.50). The influence of the non-German nationality was strong, with a maximum risk increase for the subareas of grammar and psychosocial development. Although children with non-German nationality had a reduced risk of disorders for the rhythm of speech and pronunciation, in all other 10 subareas their risk was increased. In preschool children, most common were delays of pronunciation, memory and concentration. Age effects suggest that delays can spontaneously resolve, but providing support at school entry might be helpful. Boys and migrant children appear at high risk of developmental problems, which may warrant tailored intervention strategies.
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Daoud, Hussein; Zhang, Dong; McMurray, Fiona; Yu, Andrea; Luco, Stephanie M; Vanstone, Jason; Jarinova, Olga; Carson, Nancy; Wickens, James; Shishodia, Shifali; Choi, Hwanho; McDonough, Michael A; Schofield, Christopher J; Harper, Mary-Ellen; Dyment, David A; Armour, Christine M
2016-03-01
A homozygous loss-of-function mutation p.(Arg316Gln) in the fat mass and obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent oxygenase, was previously identified in a large family in which nine affected individuals present with a lethal syndrome characterised by growth retardation and multiple malformations. To date, no other pathogenic mutation in FTO has been identified as a cause of multiple congenital malformations. We investigated a 21-month-old girl who presented distinctive facial features, failure to thrive, global developmental delay, left ventricular cardiac hypertrophy, reduced vision and bilateral hearing loss. We performed targeted next-generation sequencing of 4813 clinically relevant genes in the patient and her parents. We identified a novel FTO homozygous missense mutation (c.956C>T; p.(Ser319Phe)) in the affected individual. This mutation affects a highly conserved residue located in the same functional domain as the previously characterised mutation p.(Arg316Gln). Biochemical studies reveal that p.(Ser319Phe) FTO has reduced 2-oxoglutarate turnover and N-methyl-nucleoside demethylase activity. Our findings are consistent with previous reports that homozygous mutations in FTO can lead to rare growth retardation and developmental delay syndrome, and further support the proposal that FTO plays an important role in early development of human central nervous and cardiovascular systems. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
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A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood
DOE Office of Scientific and Technical Information (OSTI.GOV)
Maddalena, A.; Yadvish, K.N.; Spence, W.C.
1996-08-09
Individuals with developmental delay who are found to have only fragile X premutations present an interpretive dilemma. The presence of the premutation could be an unrelated coincidence, or it could be a sign of mosaicism involving a full mutation in other tissues. To investigate three cases of this type, buccal epithelium was collected on cytology brushes for Southern blot analysis. In one notable case, the blood specimen of a boy with developmental delay was found to have a premutation of 0.1 extra kb, which was shown by PCR to be an allele of 60 {+-} 3 repeats. There was nomore » trace of a full mutation. Mosaicism was investigated as an explanation for his developmental delay, although the condition was confounded by prematurity and other factors. The cheek epithelium DNA was found to contain the premutation, plus a methylated full mutation with expansions of 0.9 and 1.5 extra kb. The three populations were nearly equal in frequency but the 1.5 kb expansion was the most prominent. Regardless of whether this patient has clinical signs of fragile X syndrome, he illustrates that there can be gross tissue-specific differences in molecular subpopulations in mosaic individuals. Because brain and epithelium are more closely related embryonically than are brain and blood, cryptic full mutations in affected individuals may be evident in epithelial cells while being absent or difficult to detect in blood. This phenomenon may explain some typical cases of the fragile X phenotype associated with premutations or near-normal DNA findings. 21 refs., 1 fig., 1 tab.« less
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Zheng, Zhaojing; Yao, Ru-En; Geng, Juan; Jin, Xingming; Shen, Yongnian; Ying, Daming; Fu, Qihua; Yu, Yongguo
2013-03-10
Microduplication at 17p13.3 and microdeletion at 21q22 are both rare chromosomal aberrations. The presence of both genomic imbalances in one patient has not been previously reported in literature. In this study, we performed a molecular diagnostic testing with a whole genome microarray on a 3-year-old boy with developmental delay, mental retardation and multiple malformations. A routine G-banding karyotype analysis was performed using peripheral lymphocytes. Chromosome microarray analysis (CMA) was done using Affymetrix CytoScan™ HD array. Genomic imbalances were further confirmed by multiple ligation-dependent probe amplification (MLPA). The result of karyotyping was normal but CMA detected a 9.8 Mb microduplication at 17p13.3-13.1 (chr17: 1-9,875,545) and a 2.8 Mb microdeletion involving 21q22.3-qter (chr21: 45,239,077-48,097,372). The imbalances were due to a balanced translocation present in patient's mother. The patient was characterized with short stature, profound developmental delay, non-verbal, intellectual disability as well as craniofacial dysmorphism, subtle brain structural anomaly and sparse scalp hair. This is the first patient reported with a combination of a microduplication at 17p13.3-13.1 and a microdeletion at 21q22.3-qter. Both genomic imbalances were undetected by conventional karyotyping but were delineated with CMA test. Synergistic effect from the two rare genomic imbalances is likely responsible for the severe clinical phenotypes observed in this patient. Copyright © 2012 Elsevier B.V. All rights reserved.
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A novel X-linked disorder with developmental delay and autistic features.
Kaya, Namik; Colak, Dilek; Albakheet, Albandary; Al-Owain, Mohammad; Abu-Dheim, Nada; Al-Younes, Banan; Al-Zahrani, Jawaher; Mukaddes, Nahit M; Dervent, Aysin; Al-Dosari, Naji; Al-Odaib, Ali; Kayaalp, Inci V; Al-Sayed, Moeenaladin; Al-Hassnan, Zuhair; Nester, Michael J; Al-Dosari, Mohammad; Al-Dhalaan, Hesham; Chedrawi, Aziza; Gunoz, Hulya; Karakas, Bedri; Sakati, Nadia; Alkuraya, Fowzan S; Gascon, Generaso G; Ozand, Pinar T
2012-04-01
Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim to understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia nervosa. We evaluated the affected individuals, all maternally related, using childhood autism rating scale (CARS) and Vineland Adaptive scales, magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) brain, electroencephalography (EEG), electromyography (EMG), muscle biopsy, high-resolution molecular karyotype arrays, Giemsa banding (G-banding) and fluorescent in situ hybridization (FISH) experiments, mitochondrial DNA (mtDNA) sequencing, X-chromosome inactivation study, global gene expression analysis on Epstein-Barr virus (EBV)-transformed lymphoblasts, and quantitative reverse-transcription polymerase chain reaction (qRT-PCR). We have identified a novel Xq12-q13.3 duplication in an extended family. Clinically normal mothers were completely skewed in favor of the normal chromosome X. Global transcriptional profiling of affected individuals and controls revealed significant alterations of genes and pathways in a pattern consistent with previous microarray studies of autism spectrum disorder patients. Moreover, expression analysis revealed copy number-dependent increased messenger RNA (mRNA) levels in affected patients compared to control individuals. A subset of differentially expressed genes was validated using qRT-PCR. Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1, and MED12. Copyright © 2011 American Neurological Association.
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Carelle-Calmels, Nadège; Girard-Lemaire, Françoise; Guérin, Eric; Bieth, Eric; Rudolf, Gabrielle; Biancalana, Valérie; Pecheur, Hélène; Demil, Houria; Schneider, Thierry; de Saint-Martin, Anne; Caron, Olivier; Legrain, Michèle; Gaston, Valérie; Flori, Elisabeth
2008-01-01
Cytogenetically detectable elongation of the 15q proximal region can be associated with Prader-Willi/Angelman critical region interstitial duplications or with inherited juxtacentromeric euchromatic variants. The first category has been reported in association with developmental delay and autistic disorders. These pathogenic recurrent duplications are more frequently of maternal origin and originate from unequal meiotic crossovers between chromosome 15 low-copy repeats. 15q juxtacentromeric euchromatic variants reflect polymorphic copy number variations of segments containing pseudogenes and usually segregate without apparent phenotypic consequence. Pathogenic relevant 15q11-q13 duplications are not distinguishable from the innocuous euchromatic variants with conventional cytogenetic methods. We report cytogenetic and molecular studies of a patient with hypotonia, developmental delay and epilepsy, carrying, on the same chromosome 15, both a de novo 15q11-q13 interstitial duplication and an inherited 15q juxtacentromeric amplification from maternal origin. The duplication, initially suspected by fluorescent in situ hybridization (FISH), has been confirmed by molecular studies. The 15q juxtacentromeric region amplification, which segregates in the family for at least three generations, has been confirmed by FISH using BAC probes overlapping the NF1 and GABRA5 pseudogenes. This report emphasizes the importance to distinguish proximal 15q polymorphic variants from clinically significant duplications. In any patient with inherited 15q proximal variant but unexplained developmental delay suggesting 15q11-q13 pathology, a pathogenic rearrangement has to be searched with adapted strategies, in order to detect deletions as well as duplications of this region.
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Abnormal electroretinogram associated with developmental brain anomalies.
Cibis, G W; Fitzgerald, K M
1995-01-01
PURPOSE: We have encountered abnormal ERGs associated with optic nerve hypoplasia, macular, optic nerve and chorioretinal colobomata and developmental brain anomalies. Brain anomalies include cortical dysgenesis, lissencephaly, porencephaly, cerebellar and corpus callosum hypoplasia. We describe six exemplar cases. METHODS: Scotopic and photopic ERGs adherent to international standards were performed as well as photopic ERGs to long-duration stimuli. CT or MRI studies were also done. The ERGs were compared to age-matched normal control subjects. RESULTS: ERG changes include reduced amplitude b-waves to blue and red stimuli under scotopic testing conditions. Implicit times were often delayed. The photopic responses also showed reduced amplitude a- and b-waves with implicit time delays. The long-duration photopic ERG done in one case shows attenuation of both ON- and OFF-responses. CONCLUSIONS: Common underlying developmental genetic or environmental unifying casualties are speculated to be at fault in causing these cases of associated retinal and brain abnormalities. No single etiology is expected. Multiple potential causes acting early in embryogenesis effecting neuronal induction, migration and differentiation are theorized. These occur at a time when brain and retinal cells are sufficiently undifferentiated to be similarly effected. We call these cases examples of Brain Retina Neuroembryodysgenesis (BRNED). Homeobox and PAX genes with global neuronal developmental influences are gene candidates to unify the observed disruption of brain and retinal cell development. The ERG can provide a valuable clinical addition in understanding and ultimately classifying these disorders. Images FIGURE 1 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 PMID:8719676
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Karimzadeh, Parvaneh; Jafari, Narjes; Nejad Biglari, Habibeh; Jabbeh Dari, Sayena; Ahmad Abadi, Farzad; Alaee, Mohammad-Reza; Nemati, Hamid; Saket, Sasan; Tonekaboni, Seyed Hasan; Taghdiri, Mohammad-Mahdi; Ghofrani, Mohammad
2014-01-01
GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%). According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.
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Sy, Jolene R.; Vollmer, Timothy R.
2012-01-01
We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an immediate reinforcement condition and a delayed reinforcement condition in which subjects could respond during the delay. In Experiment 3, discrimination among 4 alternatives was compared across immediate and delayed reinforcement. In Experiment 4, discrimination between 2 alternatives was examined when reinforcement was immediate and 0-s or 30-s intertrial intervals (ITI) were programmed. For most subjects, discrimination acquisition occurred under immediate reinforcement. However, for some subjects, introducing delays slowed or prevented discrimination acquisition under some conditions. Results from Experiment 4 suggest that longer ITIs cannot account for the lack of discrimination under delayed reinforcement. PMID:23322925
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Management of developmental speech and language disorders: Part 1.
O'Hare, Anne; Bremner, Lynne
2016-03-01
The identification of developmental problems in a child's acquisition of speech, language and/or communication is a core activity in child surveillance. These are common difficulties with up to 15% of toddlers being 'late talkers' and 7% of children entering school with persisting impairments of their language development. These delays can confer disadvantages in the long term, adversely affecting language, cognition, academic attainment, behaviour and mental health. All children presenting with significant speech and language delay should be investigated with a comprehensive hearing assessment and be considered for speech and language therapy assessment. Socioeconomic adversity correlates with delayed language development. Clinical assessment should confirm that the presentation is definitely not acquired (see part 2) and will also guide whether the difficulty is primary, in which there are often familial patterns, or secondary, from a very wide range of aetiologies. Symptoms may be salient, such as the regression of communication in <3-year-olds which 'flags up' autism spectrum disorder. Further investigation will be informed from this clinical assessment, for example, genetic investigation for sex aneuploidies in enduring primary difficulties. Management of the speech and language difficulty itself is the realm of the speech and language therapist, who has an ever-increasing evidence-based choice of interventions. This should take place within a multidisciplinary team, particularly for children with more severe conditions who may benefit from individualised parental and educational supports. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
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Satgunam, PremNandhini; Datta, Sourav; Chillakala, Koteswararao; Bobbili, Karthik R; Joshi, Dhruv
2017-07-01
There are no commercially available devices to measure visual fields in infants. We developed a device, "Pediatric Perimeter," that quantifies visual field extent (VFE) for infants. We describe the construction, validation, and use of this device. A hemispherical dome with light emitting diodes (LEDs) was constructed. The LEDs were controlled using a computer program to measure reaction time (RT) to gross visual fields (GVF) and the VFE. Participants were tested in supine position in a dark room. Eye or head movement towards the stimuli was monitored with an infrared (IR) camera. Validation was done on 10 adults (mean age: 24.4 ± 5 years) with tunnel vision simulator. Perimetry was performed on 19 infants (age: 2.3-12 months), five infants with normal milestones. GVF and VFE were estimated in 17 and 7 infants, respectively. Median RT of infants with developmental delay was 663 ms and 380 ms for healthy infants. Also, 14 children (age: 14 months-6 years) with developmental delay and five patients with cognitive impairment were tested. Visual field isopter and RT can be examined with the Pediatric Perimeter device on infants and patients with special needs. Further testing on infants will need to assess the repeatability. A large-scale study will be needed to compare typically developing infants and infants with delayed milestones with this device. Quantifiable parameters obtained with this device can be used as outcome measures in clinical examination of infants and patients with special needs. This device can be used in pediatric, neurology, and ophthalmology clinics.
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ERIC Educational Resources Information Center
Milojevich, H.; Lukowski, A.
2016-01-01
Background: Whereas research has indicated that children with Down syndrome (DS) imitate demonstrated actions over short delays, it is presently unknown whether children with DS recall information over lengthy delays at levels comparable with typically developing (TD) children matched on developmental age. Method: In the present research, 10…
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Divergent Development of Gross Motor Skills in Children Who Are Blind or Sighted
ERIC Educational Resources Information Center
Brambring, Michael
2006-01-01
This empirical study compared the average ages at which four congenitally blind children acquired 29 gross motor skills with age norms for sighted children. The results indicated distinct developmental delays in the acquisition of motor skills and a high degree of variability in developmental delays within and across the six subdomains that were…
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ERIC Educational Resources Information Center
Kong, Na Young; Carta, Judith J.
2013-01-01
The purpose of this article is to synthesize the available studies regarding responsive interaction intervention (RII) for children with or at risk for developmental delays with a focus on six dimensions: (a) the characteristics of participants, (b) the features of RII, (c) the measurement of treatment fidelity, (d) the overall effectiveness of…
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ERIC Educational Resources Information Center
Shackelford, Jo
Under Part C of the Individuals with Disabilities Education Act (IDEA), participating states and jurisdictions must provide services to children who are either experiencing developmental delays, or who have a diagnosed mental or physical condition that has a a high probability of resulting in developmental delay. Additionally, states may choose to…
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ERIC Educational Resources Information Center
Shackelford, Jo
2004-01-01
Under Part C of the Individuals with Disabilities Education Act (IDEA), participating states and jurisdictions must provide services to children who are either experiencing developmental delays, or who have a diagnosed mental or physical condition that has a high probability of resulting in developmental delay. Additionally, states may choose to…
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ERIC Educational Resources Information Center
Ullery, Mary Anne; Katz, Lynne
2017-01-01
This article examined transition rates of young children (n = 102) from an early intervention program at the Linda Ray Intervention Program (LRIP) who had documented developmental delays and co-occurring prenatal drug exposure often coupled with verified child maltreatment. Findings indicated that there was significant group improvement from…
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ERIC Educational Resources Information Center
Colgan, Siobhan Eileen
2012-01-01
This study investigated the relationship between maternal depression and children's access to early intervention services among a sample of children with developmental delay at age two who were determined to be eligible for early intervention services, were full term and of normal birth weight, and were not previously identified with any special…
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Divergent Development of Verbal Skills in Children Who Are Blind or Sighted
ERIC Educational Resources Information Center
Journal of Visual Impairment & Blindness, 2007
2007-01-01
This empirical study compared the average ages at which four children with congenital blindness acquired 29 verbal skills with given age norms for sighted children. The results indicated only small developmental delays in the acquisition of verbal skills in the four children, but a high degree of variability in developmental delays within and…
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ERIC Educational Resources Information Center
Valentini, Nadia; Rudisill, Mary E.
2004-01-01
Two studies were conducted to examine the effects of motivational climate on motor-skill development and perceived physical competence in kindergarten children with developmental delays. In Experiment 1, two intervention groups were exposed to environments with either high (mastery climate) or low autonomy for 12 weeks. Results showed that the…
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ERIC Educational Resources Information Center
Kirk, Megan A.; Rhodes, Ryan E.
2011-01-01
Preschoolers with developmental delay (DD) are at risk for poor fundamental movement skills (FMS), but a paucity of early FMS interventions exist. The purpose of this review was to critically appraise the existing interventions to establish direction for future trials targeting preschoolers with DD. A total of 11 studies met the inclusion…
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ERIC Educational Resources Information Center
Moss, Kate; Blaha, Robbie
The ten chapters of this book address sexuality issues in the lives of school age individuals who are deaf-blind or significantly developmentally delayed. It notes that these individuals usually do not experience sexuality through typical relationships and thus require a different type of instruction. Chapters have the following titles: (1)…
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Divergent Development of Manual Skills in Children Who Are Blind or Sighted
ERIC Educational Resources Information Center
Brambring, Michael
2007-01-01
This empirical study compared the average ages at which four children with congenital blindness acquired 32 fine motor skills with age norms for sighted children. The results indicated that the children experienced extreme developmental delays in the acquisition of manual skills and a high degree of variability in developmental delays within and…
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ERIC Educational Resources Information Center
Matson, Johnny L.; Taras, Marie E.
1989-01-01
Studies assessing treatments for severe behavior problems of developmentally delayed persons were reviewed. Procedures used in the 382 studies, published from 1967-1987, were analyzed in terms of problem behaviors, side effects, and treatment methods. Also examined were number of studies reported yearly, maintenance and generalization of effects,…
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Small Steps: An Early Intervention Program for Children with Developmental Delays.
ERIC Educational Resources Information Center
Pieterse, Moira; And Others
This boxed set includes eight booklets of home activities for early intervention for young children with developmental delays. The first book provides an introduction to the program and its implementation, lists 23 resources, describes a videotape which supplements the booklets, and includes a glossary. Book 2 covers how to select goals for the…
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5p14 deletion associated with microcephaly and seizures
Johnson, E.; Marinescu, R; Punnett, H.; Tenenholz, B.; Overhauser, J.
2000-01-01
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion previously described in a multigenerational family that lacks any clinical phenotype. This report shows that a 5p14 deletion does not always lead to a normal phenotype. Keywords: interstitial deletion; chromosome 5; fluorescence in situ hybridisation; cri du chat syndrome PMID:10662813
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On the anatomy of a chain shift1
Dinnsen, Daniel A.; Green, Christopher R.; Gierut, Judith A.; Morrisette, Michele L.
2012-01-01
Phonological chain shifts have been the focus of many theoretical, developmental, and clinical concerns. This paper considers an overlooked property of the problem by focusing on the typological properties of the widely attested ‘s > θ > f’ chain shift involving the processes of Labialization and Dentalization in early phonological development. Findings are reported from a cross-sectional study of 234 children (ages 3 years; 0 months–7;9) with functional (nonorganic) phonological delays. The results reveal some unexpected gaps in the predicted interactions of these processes and are brought to bear on the evaluation of recent optimality theoretic proposals for the characterization of phonological interactions. A developmental modification to the theory is proposed that has the desired effect of precluding certain early-stage grammars. The proposal is further evaluated against the facts of another widely cited developmental chain shift known as the ‘puzzle > puddle > pickle’ problem (Smith 1973). PMID:22389522
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Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D
2014-01-01
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968
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Mimouni-Bloch, Aviva; Yeshaya, Josepha; Kahana, Sarit; Maya, Idit; Basel-Vanagaite, Lina
2015-11-01
Microdeletions of various sizes in the 2p16.1-p15 chromosomal region have been grouped together under the 2p16.1-p15 microdeletion syndrome. Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of autistic behaviors. Microduplications many times bear milder clinical phenotypes in comparison with corresponding microdeletion syndromes. Indeed, as compared to the microdeletion syndrome patients, the 2p16.1-p15 microduplication seems to have a milder cognitive effect and no effect on other body systems. Limited information available in genetic databases about cases with overlapping duplications indicates that they all have abnormal developmental phenotypes. The involvement of genes in this location including BCL11A, USP34 and PEX13, affecting fundamental developmental processes both within and outside the nervous system may explain the clinical features of the individual described in this report. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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Selvam, Sumithra; Thomas, Tinku; Shetty, Priya; Zhu, Jianjun; Raman, Vijaya; Khanna, Deepti; Mehra, Ruchika; Kurpad, Anura V; Srinivasan, Krishnamachari
2016-12-01
Assessment of developmental milestones based on locally developed norms is critical for accurate estimate of overall development of a child's cognitive, behavioral, social, and emotional development. A cross-sectional study was done to develop age specific norms for developmental milestones using Vineland Adaptive Behavior Scales (VABS-II) (Sparrow, Cicchetti, & Balla, 2005) for apparently healthy children from 2 to 5 years from urban Bangalore, India, and to examine its association with anthropometric measures. Mothers (or caregivers) of 412 children participated in the study. Age-specific norms using inferential norming method and adaptive levels for all domains and subdomains were derived. Low adaptive level, also called delayed developmental milestone, was observed in 2.3% of the children, specifically 2.7% in motor and daily living skills and 2.4% in communication skills. When these children were assessed on the existing U.S. norms, there was a significant overestimation of delayed development in socialization and motor skills, whereas delay in communication and daily living skills were underestimated (all p < .01). Multiple linear regression revealed that stunted and underweight children had significantly lower developmental scores for communication and motor skills compared with normal children (β coefficient ranges from 2.6-5.3; all p < .01). In the absence of Indian normative data for VABS-II in preschool children, the prevalence of developmental delay could either be under- or overestimated using Western norms. Thus, locally referenced norms are critical for reliable assessments of development in children. Stunted and underweight children are more likely to have poorer developmental scores compared with healthy children. (PsycINFO Database Record (c) 2016 APA, all rights reserved).
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A prospective study of response to name in infants at risk for autism.
Nadig, Aparna S; Ozonoff, Sally; Young, Gregory S; Rozga, Agata; Sigman, Marian; Rogers, Sally J
2007-04-01
To assess the sensitivity and specificity of decreased response to name at age 12 months as a screen for autism spectrum disorders (ASD) and other developmental delays. Prospective, longitudinal design studying infants at risk for ASD. Research laboratory at university medical center. Infants at risk for autism (55 six-month-olds, 101 twelve-month-olds) and a control group at no known risk (43 six-month-olds, 46 twelve-month-olds). To date, 46 at-risk infants and 25 control infants have been followed up to 24 months. Intervention Experimental task eliciting response-to-name behavior. Autism Diagnostic Observation Schedule, Mullen Scales of Early Learning. At age 6 months, there was a nonsignificant trend for control infants to require a fewer number of calls to respond to name than infants at risk for autism. At age 12 months, 100% of infants in the control group "passed," responding on the first or second name call, while 86% in the at-risk group did. Three fourths of children who failed the task were identified with developmental problems at age 24 months. Specificity of failing to respond to name was 0.89 for ASD and 0.94 for any developmental delay. Sensitivity was 0.50 for ASD and 0.39 for any developmental delay. Failure to respond to name by age 12 months is highly suggestive of developmental abnormality but does not identify all children at risk for developmental problems. Lack of responding to name is not universal among infants later diagnosed with ASD and/or other developmental delays. Poor response to name may be a trait of the broader autism phenotype in infancy.
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ERIC Educational Resources Information Center
Parette, Howard P., Jr.; Hourcade, Jack; Blum, Craig
2011-01-01
Over the past decade, a wide array of instructional technology applications have found their way into early intervention settings. Of particular importance to young learners who evidence developmental delays or are at risk for school failure are those technologies with the potential to more effectively teach basic emergent literacy skills: (1)…
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ERIC Educational Resources Information Center
Feldman, M.; McDonald, L.; Serbin, L.; Stack, D.; Secco, M. L.; Yu, C. T.
2007-01-01
Background: Despite extensive research with families raising children with or at risk for developmental delay (DD), it is not clear whether primary caregivers of these children are at increased risk for depressive symptoms. Discrepant findings in the literature may be owing to heterogeneity of child problems. More research is needed on child,…
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ERIC Educational Resources Information Center
Flores, Margaret M.; Schweck, Kelly B.; Hinton, Vanessa
2016-01-01
Language intervention using Direct Instruction (DI) has shown positive results. There is a growing body of investigation of Language for Learning (LL), a DI program, on the performance of students with autism spectrum disorders (ASD) and students with developmental delays (DD). There is need for replication and extension of research to include…
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ERIC Educational Resources Information Center
O'Reilly, Fran E.; And Others
This study analyzes major federal programs designed to provide services to children, from birth through age 2, who have developmental delays or a high probability of developmental delays, and their families. Programs were selected based on their provision of education or health-related services to infants and toddlers with handicaps and their…
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ERIC Educational Resources Information Center
Richman, David M.; Lindauer, Steven E.
2005-01-01
Twelve children (CA, 12 to 32 months) with developmental delay were observed in their homes during monthly analogue functional analysis probes to document patterns of emerging self-injurious behavior. Two patterns of emerging self-injury were observed for 5 participants: (a) The topography and functional analysis pattern remained the same, but the…
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ERIC Educational Resources Information Center
Lin, Jin-Ding; Yen, Chia-Feng; Wu, Jia-Ling; Kang, Shih-Wan
2009-01-01
This paper was a population study with developmental delays and it included an examination of the trends the overtime change trend and reported channels of this group of people in Taiwan. We analyzed data for the present study mainly from the Department of Statistics, Ministry of the Interiors, Taipei, Taiwan: "Number of early intervention…
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ERIC Educational Resources Information Center
Shackelford, Jo
Under Part C of the Individuals with Disabilities Education Act (IDEA), participating states and jurisdictions must provide services to children who are either experiencing developmental delays, or who have a diagnosed condition that carries with it a high risk of developmental delay. Eligibility criteria used by the states influence the numbers…
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ERIC Educational Resources Information Center
Moreno, Jalene Donica
2012-01-01
Using pre-and post-intervention non-concurrent multiple probe designs across participants, I conducted 2 experiments that tested the effects of imitation instruction using a mirror on the emergence of both basic and advanced forms of generalized imitation (GI) involving physical actions with preschool students diagnosed with developmental delays.…
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ERIC Educational Resources Information Center
Scherzer, Alfred L.; Chhagan, Meera; Kauchali, Shuaib; Susser, Ezra
2012-01-01
Low- and middle-income countries are experiencing a significant reduction in mortality of children under 5 years of age. This reduction is bringing in its wake large numbers of surviving children with developmental delays and disabilities. Very little attention has been paid to these children, most of whom receive minimal or no support. Thus,…
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ERIC Educational Resources Information Center
Shackelford, Jo
2004-01-01
Under Part C of the Individuals with Disabilities Education Act (IDEA), participating states and jurisdictions must provide services to children who are either experiencing developmental delays, or who have a diagnosed mental or physical condition that has a high probability of resulting in developmental delay. Additionally, states may choose to…
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ERIC Educational Resources Information Center
Neece, Cameron L.
2014-01-01
Background: Parents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems;…
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ERIC Educational Resources Information Center
Sladeczek, Ingrid E.; Fontil, Laura; Miodrag, Nancy; Karagiannakis, Anastasia; Amar, Daniel; Amos, Janet
2017-01-01
This study compares two service delivery models (community-based and centre-based), examining them in light of children's adaptive and maladaptive behaviours, and parental perceptions of stress and of care. More specifically, parents of 96 children with developmental delays assessed their children's adaptive and maladaptive behaviours and rated…
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ERIC Educational Resources Information Center
Dogoe, Maud; Banda, Devender R.
2009-01-01
We reviewed twelve studies that used the constant time delay (CTD) procedure to teach chained tasks to individuals with developmental disabilities from years 1996-2006. Variables analyzed include types of tasks that have been taught with the procedure, how effective CTD has been in teaching participants, and whether researchers have investigated…
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ERIC Educational Resources Information Center
Ganz, Jennifer B.; Bourgeois, Bethany C.; Flores, Margaret M.; Campos, B. Adriana
2008-01-01
Clearly, imitation is linked to a variety of skill areas. As a result, children with autism and developmental delays are less likely than their typical peers to perform well in many areas of development, including play and speech. The purpose of this study was to determine if a simple, teacher-friendly strategy could be implemented that would…
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ERIC Educational Resources Information Center
Biederman, G. B.; Freedman, B.
2007-01-01
This paper addresses optimal strategies in teaching essential life and communication skills to children with Down syndrome, autism and other developmental delays. Evidence from the literature concerning the relative efficacy of hand-over-hand (self-modeling) in contrast to passive observational teaching techniques (e.g., video modeling) shows the…
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Developmental Assessment with Young Children: A Systematic Review of Battelle Studies
ERIC Educational Resources Information Center
Cunha, Ana C. B.; Berkovits, Michelle D.; Albuquerque, Karolina A.
2018-01-01
Developmental assessment scales are important tools for determining developmental delays and planning preventive interventions. One broad assessment scale used to evaluate child development is the Battelle Developmental Inventories (BDIs). The BDI-2 has a standardized version in English with good psychometric properties and a translated version in…
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Developmental Milestones in Toddlers with Atypical Development
ERIC Educational Resources Information Center
Horovitz, Max; Matson, Johnny L.
2011-01-01
The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…
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CDKL5 and ARX mutations in males with early-onset epilepsy.
Mirzaa, Ghayda M; Paciorkowski, Alex R; Marsh, Eric D; Berry-Kravis, Elizabeth M; Medne, Livija; Alkhateeb, Asem; Grix, Art; Wirrell, Elaine C; Powell, Berkley R; Nickels, Katherine C; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B; Das, Soma
2013-05-01
Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only 10 males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging, and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. These 18 patients include eight new males with CDKL5 mutations and 10 with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys. Copyright © 2013 Elsevier Inc. All rights reserved.
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CDKL5 and ARX mutations in males with early-onset epilepsy
Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Marsh, Eric D.; Berry-Kravis, Elizabeth M.; Medne, Livija; Grix, Art; Wirrell, Elaine C.; Powell, Berkley R.; Nickels, Katherine C.; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B.; Das, Soma
2013-01-01
Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. While numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only ten males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. The 18 patients include eight new males with CDKL5 mutations and ten with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large data set therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy. PMID:23583054
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Williams Syndrome and 15q Duplication: Coincidence versus Association.
Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila
2017-01-01
Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.
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Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.
Salinas-Torres, Victor M
2015-07-01
In 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences. A Mexican 10-year-old boy with Say-Meyer syndrome is described. Additionally, he had C6 vertebral right pedicle agenesis, brachymesophalangy of the fifth fingers, bilateral widening of Sylvian fissure, and white matter amplitude as novel observed findings of the syndrome. This appears to be the first Say-Meyer syndrome patient with extracranial skeletal anomalies. In light of these manifestations, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with a significant clinical variability. Moreover, increasing evidence points to a variable expressivity of the same autosomal dominant mutation. Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.
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Paternal versus maternal coping styles with child diagnosis of developmental delay.
Barak-Levy, Yael; Atzaba-Poria, Na'ama
2013-06-01
Parents of children with disabilities vary in their reaction to their children's diagnosis. The current study focused on fathers in addition to mothers and examined their resolution and coping styles when having children diagnosed with developmental delay (DD). Sixty-five fathers and 71 mothers were interviewed using the reaction to the diagnosis interview (RDI; Pianta & Marvin, 1992a). Results indicated that the majority of parents were unresolved with their child's diagnosis, with no differences found between fathers' and mothers' rates of resolution. Furthermore, both parents of children that were diagnosed at a later age and parents that were less educated tended to be unresolved, as did fathers of a lower socioeconomic status. Older age of both children and mothers was related to maternal lack of resolution. Finally, an in-depth examination revealed significant differences in the manner in which fathers and mothers cope with their children's diagnosis: whereas mothers were more prone to using an emotional coping style, fathers tended to use a cognitive coping style. The clinical implications of paternal versus maternal coping styles are discussed. Copyright © 2013 Elsevier Ltd. All rights reserved.
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Metabolic evaluation of children with global developmental delay.
Eun, So-Hee; Hahn, Si Houn
2015-04-01
Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.
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Thiemann-Bourque, Kathy S; Brady, Nancy C; Fleming, Kandace K
2012-05-01
Children with autism are often described as having deficient play skills, particularly symbolic play. We compared the play of 35 children with autism to 38 children with other developmental delays. All children were preschool-age and produced less than 20 different words. Results indicated no significant differences across the two groups in their play. Children with autism engaged in more conventional play, that is, putting objects together according to how the toys were constructed (e.g., pieces in a puzzle, lid on a teapot). Results also indicated high correlations between play, language, and cognitive measures. Findings indicate that play relates to language and cognitive levels yet may not discriminate children with autism and children with other developmental delays early in their development.
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Brady, Nancy C.; Fleming, Kandace K.
2011-01-01
Children with autism are often described as having deficient play skills, particularly symbolic play. We compared the play of 35 children with autism to 38 children with other developmental delays. All children were preschool-age and produced less than 20 different words. Results indicated no significant differences across the two groups in their play. Children with autism engaged in more conventional play, that is, putting objects together according to how the toys were constructed (e.g., pieces in a puzzle, lid on a teapot). Results also indicated high correlations between play, language, and cognitive measures. Findings indicate that play relates to language and cognitive levels yet may not discriminate children with autism and children with other developmental delays early in their development. PMID:21720725
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Van Esch, Hilde; Rosser, Elisabeth M; Janssens, Sandra; Van Ingelghem, Ingrid; Loeys, Bart; Menten, Bjorn
2010-10-01
Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The implementation of array comparative genome hybridisation in the diagnostic work-up of patients presenting with congenital disorders, including developmental delay, has enabled identification of many patients with smaller chromosomal imbalances. In this report, the cases are presented of four patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology.
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Ku, Hsiao-Yun; Huang, Yu-Fei; Chao, Pei-Hsuan; Huang, Chiung-Chun; Hsu, Kuei-Sen
2008-11-01
Activity-dependent alterations of synaptic efficacy or connectivity are essential for the development, signal processing, and learning and memory functions of the nervous system. It was observed that, in particular in the CA1 region of the hippocampus, low-frequency stimulation (LFS) became progressively less effective at inducing long-term depression (LTD) with advancing developmental age. The physiological factors regulating this developmental plasticity change, however, have not yet been elucidated. Here we examined the hypothesis that neonatal isolation (once per day for 1 h from postnatal days 1-7) is able to alter processes underlying the developmental decline of LTD. We confirm that the magnitude of LTD induced by LFS (900 stimuli at 1 Hz) protocol correlates negatively with developmental age and illustrates that neonatal isolation delays this developmental decline via the activation of corticotrophin-releasing factor (CRF) system. Furthermore, this modulation appears to be mediated by an increased transcription of N-methyl-D-aspartate receptor NR2B subunits. We also demonstrate that intracerebroventricular injection of CRF postnatally mimicked the effect of neonatal isolation to increase the expression of NR2B subunits and delayed the developmental decline of LTD, which was specifically blocked by CRF receptor 1 antagonist NBI27914 pretreatment. These results suggest a novel role for CRF in regulating developmental events in the hippocampus and indicate that although maternal deprivation is stressful for neonate, appropriate neonatal isolation can serve to promote an endocrine state that may regulate the gradual developmental change in the induction rules for synaptic plasticity in the hippocampal CA1 region.
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Socioeconomic Status Index to Interpret Inequalities in Child Development
AHMADI DOULABI, Mahbobeh; SAJEDI, Firoozeh; VAMEGHI, Roshanak; MAZAHERI, Mohammad Ali; AKBARZADEH BAGHBAN, Alireza
2017-01-01
Objective There have been contradictory findings on the relationship between Socioeconomic Status (SES) and child development although SES is associated with child development outcomes. The present study intended to define the relationship between SES and child development in Tehran kindergartens, Iran. Materials & Methods This cross-sectional survey studied 1036 children aged 36-60 month, in different kindergartens in Tehran City, Iran, in 2014-2015. The principal factor analysis (PFA) model was employed to construct SES indices. The constructed SES variable was employed as an independent variable in logistic regression model to evaluate its role in developmental delay as a dependent variable. Results The relationship between SES and developmental delay was significant at P=0.003. SES proved to have a significant (P<0.05) impact on developmental delay, both as an independent variable and after controlling risk factors. Conclusion There should be more emphasis on developmental monitoring and appropriate intervention programs for children to give them higher chance of having a more productive life. PMID:28698723
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McManus, Beth Marie; Robert, Stephanie; Albanese, Aggie; Sadek-Badawi, Mona; Palta, Mari
2013-07-11
The Individuals with Disabilities Education Act (Part C) authorizes states to establish systems to provide early intervention services (e.g., therapy) for children at risk, with the incentive of federal financial support. This study examines family and neighborhood characteristics associated with currently utilizing physical, occupational, or speech therapy among very low birthweight (VLBW) 2-year-old children who meet Wisconsin eligibility requirements for early intervention services (EI) due to developmental delay. This cross-sectional analysis used data from the Newborn Lung Project, a regional cohort study of VLBW infants hospitalized in Wisconsin's newborn intensive care units during 2003-2004. We included the 176 children who were age two at follow-up, and met Wisconsin state eligibility requirements for EI based on developmental delay. Exact logistic regression was used to describe child and neighborhood socio-demographic correlates of parent-reported receipt of therapy. Among VLBW children with developmental delay, currently utilizing therapy was higher among children with Medicaid (aOR = 5.3, 95% CI: 1.3, 28.3) and concomitant developmental disability (aOR = 5.2, 95% CI: 2.1, 13.3) and lower for those living in a socially more disadvantaged neighborhood (aOR=0.48, 95% CI: 0.21, 0.98, per tertile). Among a sample of VLBW 2-year olds with developmental delays who are EI-eligible in WI, 4 out of 5 were currently receiving therapy, per parent report. Participation in Medicaid positively influences therapy utilization. Children with developmental difficulties who live in socially disadvantaged neighborhoods are at highest risk for not receiving therapy.
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de Goede, Christian; Yue, Wyatt W; Yan, Guanhua; Ariyaratnam, Shyamala; Chandler, Kate E; Downes, Laura; Khan, Nasaim; Mohan, Meyyammai; Lowe, Martin; Banka, Siddharth
2016-03-01
Next Generation Sequencing (NGS) is a useful tool in diagnosis of rare disorders but the interpretation of data can be challenging in clinical settings. We present results of extended studies on a family of multiple members with global developmental delay and learning disability, where another research group postulated the underlying cause to be a homozygous RABL6 missense variant. Using data from the Exome Variant Server, we show that missense RABL6 variants are unlikely to cause early onset rare developmental disorder. Protein structural analysis, cellular functional studies and reverse phenotyping proved that the condition in this family is due to a homozygous INPP5E mutation. An in-depth review of mutational and phenotypic spectrum associated with INPP5E demonstrated that mutations in this gene lead to a range of cilliopathy-phenotypes. We use this study as an example to demonstrate the importance of careful clinical evaluation of multiple family members, reverse phenotyping, considering the unknown phenotypic variability of rare diseases, utilizing publically available genomic databases and conducting appropriate bioinformatics and functional studies while interpreting results from NGS in uncertain cases. We emphasize that interpretation of NGS data is an iterative process and its dynamic nature should be explained to patients and families. Our study shows that developmental delay, intellectual disability, hypotonia and ocular motor apraxia are common in INPP5E-related disorders and considerable intra-familial phenotypic variability is possible. We have compiled the INPP5E mutational spectrum and provided novel insights into their molecular mechanisms. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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Patterns of Early Skill Attainment and Loss in Young Children with Autism
Thurm, Audrey; Manwaring, Stacy S.; Luckenbaugh, David A.; Lord, Catherine; Swedo, Susan E.
2015-01-01
The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD. PMID:24274034
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Patterns of skill attainment and loss in young children with autism.
Thurm, Audrey; Manwaring, Stacy S; Luckenbaugh, David A; Lord, Catherine; Swedo, Susan E
2014-02-01
The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD.
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Symons, Frank J.; Tervo, Raymond C.; Barney, Chantel C.; Damerow, John; Selim, Mona; McAdams, Brian; Foster, Shawn; Crabb, Gwen Wendelschafer; Kennedy, William
2015-01-01
The relation between somatosensory mechanisms and self-injury among children with neurological impairments associated with developmental delay is not well understood. We evaluated the feasibility of procuring skin biopsies to examine epidermal nerve fiber density and reported self-injury. Following informed parental consent, epidermal skin biopsies were obtained from a distal leg site with no pre-existing skin damage from 11 children with global developmental delay (55% male; mean age = 36.8 months, 17–63 mo.). Visual microscopic examination and quantitative analyses showed extremely high epidermal nerve fiber density values for some children. Children with reported self-injury (5/11) had significantly (p < 0.02) greater density values (138.8, sd = 45.5) than children without self-injury (80.5, sd = 17.5). Results from this novel immunohistological analysis of skin in very young children with neurodevelopmental delays suggests it may be a useful tool to study peripheral innervation as a possible sensory risk factor for self-injury. PMID:25918119
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Symons, Frank J; Tervo, Raymond C; Barney, Chantel C; Damerow, John; Selim, Mona; McAdams, Brian; Foster, Shawn; Wendelschafer Crabb, Gwen; Kennedy, William
2015-11-01
The relation between somatosensory mechanisms and self-injury among children with neurologic impairments associated with developmental delay is not well understood. We evaluated the feasibility of procuring skin biopsies to examine epidermal nerve fiber density and reported self-injury. Following informed parental consent, epidermal skin biopsies were obtained from a distal leg site with no pre-existing skin damage from 11 children with global developmental delay (55% male; mean age = 36.8 months, 17-63 months). Visual microscopic examination and quantitative analyses showed extremely high epidermal nerve fiber density values for some children. Children with reported self-injury (5/11) had significantly (P < .02) greater density values (138.8, standard deviation = 45.5) than children without self-injury (80.5, standard deviation = 17.5). Results from this novel immunohistologic analysis of skin in very young children with neurodevelopmental delays suggest it may be a useful tool to study peripheral innervation as a possible sensory risk factor for self-injury. © The Author(s) 2015.
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Pomerleau, Geneviève; Hurteau, Anne-Marie; Parent, Line; Doucet, Katrine; Corbin-Berrigan, Laurie-Ann; Gagnon, Isabelle
2012-01-01
The purpose of this study was to review the feasibility and usefulness of instituting a clinical protocol of scheduled assessments for children after a moderate or severe traumatic brain injury (TBI) sustained before the age of 2 years and showing no immediate deficits at hospital discharge, as well as to explore the early developmental trajectories of these children. Exploratory analytical cohort study. Pediatric Trauma Center Out-patient services. 31 children were followed within the clinical protocol of scheduled assessments. The protocol included an immediate post-injury clinical assessment of infants who sustained a TBI and follow-up assessments at the ages of 9 months, 18 months (if injured prior to that age), 30 months, and 42 months. Domains assessed at each scheduled visit included hearing, speech and language, motor performance, personal social abilities, and adaptive behaviors. Clinicians reported few difficulties with scheduling or administering the assessments, maintaining a 67% participation rate at the end of the follow-up period, thus demonstrating the feasibility of the protocol in this population. Scores on the majority of formal tests showed high variability and 15-20% of children presented with clinically significant motor and/or language delays. By 42 months of age, difficulties with adaptive behavior and personal social abilities were identified in our sample of children when compared to published norms. Qualitative clinical findings from professionals identified between 25-50% of children with potential attentional difficulties throughout the follow-up period. Findings from this study demonstrate the feasibility of implementing a clinical protocol of assessment for infants and toddlers who sustain a TBI before the age of 2 years and present with no impairments at the time of discharge from hospital. Developmental problems in this population appear to be easier to identify later in the toddler years as opposed to immediately following the TBI, emphasizing the importance of providing screening for developmental issues in this population prior to school entry.
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Taborda, Adelaide; Oliveira, Guiomar
2016-11-01
Twins are associated with a delayed development and cerebral palsy. The purpose of this work was to compare the neurologic morbidity in very preterm or very low birth weight dichorionic and monochorionic twins with singletons. We conducted a retrospective cohort study of livebirths lowest through 32 weeks of gestation or very low weight infants admitted to Neonatal Intensive Care Unit of a level III hospital, between 2006 and 2010. Development was evaluated with the Growing Skills II Scale at 24 months of age. Cerebral palsy was defined by predetermined criteria by Surveillance of Cerebral Palsy in Europe. Infants were analyzed as twins and singletons cohort. Within the twin category the infants were further separated as dichorionic and monochorionic and were compared with singletons infants. Logistic regression models were used to control for demographic and clinical factors. The cohort of infants who were assessed for neurodevelopmental impaired, consisted of 194 singletons infants and 89 twins (50 dichorionic; 39 monochorionic). Monochorionic twins, when compared with the singletons, showed an increased risk of severe developmental delay in these areas: locomotion (adjusted OR 12.2) language (adjusted OR 6.5) and autonomy (adjusted OR 7.2). Cerebral palsy was diagnosed in 4.1% of singleton infants and 15.4% of monochorionic twins. The adjusted risk of severe developmental delay and cerebral palsy in monochorionic twins was 3.6 and 4.2, respectively. This work showed higher rate of moderate and severe neurodevelopment delay including cerebral palsy in monochorionic twins compared to singletons infants. Analysis by groups stratified according to gestational age and comparison of monochorionic and dichorionic twins displayed the role of chorionicity for these neurodevelopmental disorders. In our sample the monochorionic twins are associated with an independent risk of neurodevelopmental delay.
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ERIC Educational Resources Information Center
Eisenhower, Abbey; Blacher, Jan; Baker, Bruce L.
2013-01-01
The self-perceived physical health of mothers raising children with developmental delay (DD; N = 116) or typical development (TD; N = 129) was examined across child ages 3-9 years, revealing three main findings. First, mothers of children with DD experienced poorer self-rated physical health than mothers of children with TD at each age. Latent…
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ERIC Educational Resources Information Center
Odluyurt, Serhat
2011-01-01
The general purpose of this study was to examine the effectiveness of constant time delay embedded in activities for teaching clothes name for preschool children with developmental disabilities. This study included four participants having Down syndrome with an age range of 43-46 months. All experimental sessions were conducted in one to one…
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ERIC Educational Resources Information Center
Marshall, Jennifer; Kirby, Russell S.; Gorski, Peter A.
2016-01-01
This study sought to address underenrollment and late entry to early intervention by identifying factors associated with parental concern and services for developmental delays. The authors analyzed responses from 27,566 parents of children from birth to age 5 from the 2007 National Survey of Children's Health to quantify and to identify factors…
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ERIC Educational Resources Information Center
Isakson, Lisa; Marchand-Martella, Nancy; Martella, Ronald C.
2011-01-01
This study assessed the effects of "McGraw Hill Phonemic Awareness" on the phonemic awareness skills of 5 preschool children with developmental delays. The children received 60 of the 110 lessons included in this program over 5 months. They were pre- and posttested using the kindergarten level Initial Sound Fluency and Phoneme…
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Grau, Christina; Starkovich, Molly; Azamian, Mahshid S; Xia, Fan; Cheung, Sau Wai; Evans, Patricia; Henderson, Alex; Lalani, Seema R; Scott, Daryl A
2017-01-01
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1). Deletions of this ~430 kb region have not been previously implicated in human disease. Duplications of GSPT2 have been documented in individuals with intellectual disability, but the phenotypic consequences of a loss of GSPT2 function have not been elucidated in humans or mouse models. Changes in MAGED1 have not been associated with intellectual disability in humans, but loss of MAGED1 function is associated with neurocognitive and neurobehavioral phenotypes in mice. In all cases, the Xp11.22 deletion was inherited from an unaffected mother. Studies performed on DNA from one of these mothers did not show evidence of skewed X-inactivation. These results suggest that deletions of an ~430 kb region on chromosome Xp11.22 that encompass CENPVL1, CENPVL2, GSPT2 and MAGED1 cause a distinct X-linked syndrome characterized by intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly. Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions.
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Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.
Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M
2007-11-01
X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.
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Infrastructure for Clinical Trials in Duchenne Dystrophy
2010-09-13
Diagnosis Review v1.0 No-Duplicate Inclusion/Exclusion v1.0 No-Duplicate Inclusion/Exclusion MRI v1.0 No-Duplicate Medication History v1.0 Yes Medical...and Surgical Events v1.0 Yes Laboratory Collection v1.0 Yes Cardiology v1.1 Yes Central Cardiology Read Yes Central MRI Read Yes Adverse Event...Developmental Delay: Family History? Yes No Unsure Yes No Unsure Hypotonia: Family History? Yes No Unsure Yes No Unsure Abnormal MRI : Family
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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
Jorge, Paula; Garcia, Elsa; Gonçalves, Ana; Marques, Isabel; Maia, Nuno; Rodrigues, Bárbara; Santos, Helena; Fonseca, Jacinta; Soares, Gabriela; Correia, Cecília; Reis-Lima, Margarida; Cirigliano, Vincenzo; Santos, Rosário
2018-05-10
We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternally-inherited normal-sized FMR1 allele was found. No pathogenic variants were identified in the XIST promoter. Microarray analysis revealed a 439 kb deletion at Xq28, in a region known to be associated with extreme skewing of X-chromosome inactivation. Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. Our findings should be taken into consideration in future guidelines for the diagnostic workup on the diagnosis of intellectual disabilities, particularly in female infant cases.
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CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang, Jao-Shwann; Shimojima, Keiko; Takayama, Rumiko; Natsume, Jun; Shichiji, Minobu; Hirasawa, Kyoko; Imai, Kaoru; Okanishi, Tohru; Mizuno, Seiji; Okumura, Akihisa; Sugawara, Midori; Ito, Tomoshiro; Ikeda, Hiroko; Takahashi, Yukitoshi; Oguni, Hirokazu; Imai, Katsumi; Osawa, Makiko; Yamamoto, Toshiyuki
2011-10-01
Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay. We investigated the clinical relevance of CDKL5 alterations in both genders. A total of 125 patients with epileptic encephalopathy were examined for genomic copy number aberrations, and 119 patients with no such aberrations were further examined for CDKL5 mutations. Five patients with Rett syndrome, who did not show methyl CpG-binding protein 2 gene (MECP2) mutations, were also examined for CDKL5 mutations. One male and three female patients showed submicroscopic deletions including CDKL5, and two male and six female patients showed CDKL5 nucleotide alterations. Development of early onset seizure was a characteristic clinical feature for the patients with CDKL5 alterations in both genders despite polymorphous seizure types, including myoclonic seizures, tonic seizures, and spasms. Severe developmental delays and mild frontal lobe atrophies revealed by brain magnetic resonance imaging (MRI) were observed in almost all patients, and there was no gender difference in phenotypic features. We observed that 5% of the male patients and 14% of the female patients with epileptic encephalopathy had CDKL5 alterations. These findings indicate that alterations in CDKL5 are associated with early epileptic encephalopathy in both female and male patients. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.
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Mihaylova, M; Staneva, R; Toncheva, D; Pancheva, M; Hadjidekova, S
2017-06-30
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations. This article describes the results from analysis of 81 patients with congenital malformations (CMs), developmental delay (DD) and ID, in which we utilized the CytoChip ISCA oligo microarray, 4 × 44 k, covering the whole genome with a resolution of 70 kb. In the selected group of patients with CAs, 280 copy number variations (CNVs) have been proven, 41 were pathogenic, 118 benign and 121 of unknown clinical significance (average number of variations 3.5). In six patients with established pathogenic variations, our data revealed eight pathogenic aberrations associated with the corresponding phenotype. The interpretation of the other CNVs was made on the basis of their frequency in the investigated group, the size of the variation, content of genes in the region and the type of the CNVs (deletion or duplication).
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MacDonald, Megan; Lord, Catherine; Ulrich, Dale
2013-11-01
To determine the relationship of motor skills and the core behaviors of young children with autism, social affective skills and repetitive behaviors, as indicated through the calibrated autism severity scores. The univariate GLM tested the relationship of gross and fine motor skills measured by the gross motor scale and the fine motor scale of the MSEL with autism symptomology as measured by calibrated autism severity scores. Majority of the data collected took place in an autism clinic. A cohort of 159 young children with ASD (n=110), PDD-NOS (n=26) and non-ASD (developmental delay, n=23) between the ages of 12-33 months were recruited from early intervention studies and clinical referrals. Children with non-ASD (developmental delay) were included in this study to provide a range of scores indicted through calibrated autism severity. Not applicable. The primary outcome measures in this study were calibrated autism severity scores. Fine motor skills and gross motor skills significantly predicted calibrated autism severity (p < 0.01). Children with weaker motor skills displayed higher levels of calibrated autism severity. The fine and gross motor skills are significantly related to autism symptomology. There is more to focus on and new avenues to explore in the realm of discovering how to implement early intervention and rehabilitation for young children with autism and motor skills need to be a part of the discussion.
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Pindolia, Kirit; Jordan, Megan; Guo, Caiying; Matthews, Nell; Mock, Donald M; Strovel, Erin; Blitzer, Miriam; Wolf, Barry
2011-02-01
Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia. Although the clinical features of the disorder markedly improve or are prevented with biotin supplementation, some symptoms, once they occur, such as developmental delay, hearing loss and optic atrophy, are usually irreversible. To prevent development of symptoms, the disorder is screened for in the newborn period in essentially all states and in many countries. In order to better understand many aspects of the pathophysiology of the disorder, we have developed a transgenic biotinidase-deficient mouse. The mouse has a null mutation that results in no detectable serum biotinidase activity or cross-reacting material to antibody prepared against biotinidase. When fed a biotin-deficient diet these mice develop neurological and cutaneous symptoms, carboxylase deficiency, mild hyperammonemia, and exhibit increased urinary excretion of 3-hydroxyisovaleric acid and biotin and biotin metabolites. The clinical features are reversed with biotin supplementation. This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states. Copyright © 2010 Elsevier Inc. All rights reserved.
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Mishra, Kriti; Siddharth, V
2018-01-01
A limited number of caregivers of children with developmental delay access rehabilitation facilities in India. The study explored utilization of rehabilitation services at a tertiary care setup in southwestern Rajasthan and various factors influencing it. The aim of this study is to explore rehabilitation service utilization among children with developmental delay at a tertiary care setup and to ascertain factors that influence this pattern. This study was conducted at the department of physical medicine and rehabilitation at tertiary care setup. This was an observational study. Children with developmental delay who were advised institutional-based rehabilitation were identified over span of 1 year. Those who failed to return for rehabilitation after the first visit were interviewed telephonically. The interview had semi-structured open-ended questions about their reasons for inability to avail services. SPSS statistics 22 was used for descriptive analysis and correlation of variables. Of 230 children with developmental delay visiting department in 1-year duration, 48 took regular rehabilitation. Parents of 129 children with complete records were asked regarding discontinuation. Factors cited by majority were long distance from institute and service at hospital. Other reasons for discontinuation were related to belief system, family issues, time issues, socioeconomic factors, etc. Socioeconomic status was significantly associated with parental education (C = 0.488, P = 0.000) and financial issues. Location of family had significant association with long distance (C = 0.315, P = 0.000), parental education (C = 0.251, P = 0.003), and belief system (C = 0.265, P = 0.002). Distance from institute and quality of hospital service determined rehabilitation service use at a tertiary institute. Other factors such as socioeconomic status, family support, and social belief system must also be addressed while delivering institutional rehabilitation to children.
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Kalser, Judith; Cross, J Helen
2018-04-01
We aim to further disentangle the jungle of terminology of epileptic encephalopathy and provide some insights into the current understanding about the aetiology and pathophysiology of this process. We cover also the key features of epilepsy syndromes of infancy and childhood which are considered at high risk of developing an epileptic encephalopathy. The concept of 'epileptic encephalopathy' has progressively been elaborated by the International League Against Epilepsy according to growing clinical and laboratory evidence. It defines a process of neurological impairment caused by the epileptic activity itself and, therefore, potentially reversible with successful treatment, although to a variable extent. Epileptic activity interfering with neurogenesis, synaptogenesis, and normal network organization as well as triggering neuroinflammation are among the possible pathophysiological mechanisms leading to the neurological compromise. This differs from the newly introduced concept of 'developmental encephalopathy' which applies to where the epilepsy and developmental delay are both because of the underlying aetiology and aggressive antiepileptic treatment may not be helpful. The understanding and use of correct terminology is crucial in clinical practice enabling appropriate expectations of antiepileptic treatment. Further research is needed to elucidate underlying pathophysiological mechanisms, define clear outcome predictors, and find new treatment targets.
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Health of children adopted from Ethiopia.
Miller, Laurie C; Tseng, Beverly; Tirella, Linda G; Chan, Wilma; Feig, Emily
2008-09-01
Since 2000, American families have adopted 1,700 children from Ethiopia. Little is known about the health and development of these children. Retrospective chart review of the arrival health status of all 50 (26F:24M) children from Ethiopia/Eritrea seen in the International Adoption Clinic. Prior to adoption, most children resided with relatives; 36% were >18 months old prior to entry into care. More than 50% were true orphans, often due to HIV. Arrival age ranged from 3 months to 15 years (mean +/- SD 4 years +/- 43.8 months). At arrival, growth z scores were near-average (weight -.59, height -.64, head circumference -.09); significantly better than adopted children Guatemala, China, or Russia seen in our clinic. However, some Ethiopian children were significantly growth delayed (WAZ < or =-2, 8%, HAZ 12%, HCZ 18%). Age at adoption did not relate to growth delays. Medical issues on arrival included intestinal parasites (53%, [14% with > or =3 types]), skin infections (45%), dental caries (25%), elevated liver transaminases (20%), latent tuberculosis (18%), and hepatitis B (2%). Age-appropriate vaccines had been administered in 15-77% of children (depending on specific vaccine). Behavior problems were uncommon. Gross/fine motor and cognitive skills were approximately 86% of expected for age. Age correlated inversely with developmental scores for cognition (r = -.49, P = .003). Five children had age reassignments. Ethiopian/Eritean adoptees differ from other groups of internationally adopted children: they reside for relatively long periods of time with relatives prior to institutionalization, often have uncertain ages, exhibit few behavioral problems at arrival, have better growth, and may have less severe developmental delays. Whether these differences at arrival predict better outcomes for the Ethiopian/Eritrean children is unknown.
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Satgunam, PremNandhini; Datta, Sourav; Chillakala, Koteswararao; Bobbili, Karthik R.; Joshi, Dhruv
2017-01-01
Purpose There are no commercially available devices to measure visual fields in infants. We developed a device, “Pediatric Perimeter,” that quantifies visual field extent (VFE) for infants. We describe the construction, validation, and use of this device. Methods A hemispherical dome with light emitting diodes (LEDs) was constructed. The LEDs were controlled using a computer program to measure reaction time (RT) to gross visual fields (GVF) and the VFE. Participants were tested in supine position in a dark room. Eye or head movement towards the stimuli was monitored with an infrared (IR) camera. Validation was done on 10 adults (mean age: 24.4 ± 5 years) with tunnel vision simulator. Results Perimetry was performed on 19 infants (age: 2.3–12 months), five infants with normal milestones. GVF and VFE were estimated in 17 and 7 infants, respectively. Median RT of infants with developmental delay was 663 ms and 380 ms for healthy infants. Also, 14 children (age: 14 months–6 years) with developmental delay and five patients with cognitive impairment were tested. Conclusion Visual field isopter and RT can be examined with the Pediatric Perimeter device on infants and patients with special needs. Further testing on infants will need to assess the repeatability. A large-scale study will be needed to compare typically developing infants and infants with delayed milestones with this device. Translational Relevance Quantifiable parameters obtained with this device can be used as outcome measures in clinical examination of infants and patients with special needs. This device can be used in pediatric, neurology, and ophthalmology clinics. PMID:28685105
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Tanaka, Akemi J.; Cho, Megan T.; Willaert, Rebecca; Retterer, Kyle; Zarate, Yuri A.; Bosanko, Katie; Stefans, Vikki; Oishi, Kimihiko; Williamson, Amy; Wilson, Golder N.; Basinger, Alice; Barbaro-Dieber, Tina; Ortega, Lucia; Sorrentino, Susanna; Gabriel, Melissa K.; Anderson, Ilse J.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Chung, Wendy K.
2017-01-01
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3. PMID:29162653
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Poch-Olivé, M L
2006-01-07
The identification of the causes of mental retardation (MR) is of great importance because of the consequences it has in the intervention, prognosis, knowledge of risk of recurrence and its prevention. The purpose of this review is to provide a global evaluation of the child with developmental delay or with MR in day-to-day clinical praxis of the neuropaediatrician who has to put aetiological diagnosis in practice. To this end we conduct a review of the evidence-based guidelines published by the leading groups of experts that assess the weight of diagnostic tests in the initial evaluation of children with MR and propose an algorithm that helps the clinician to make decisions. A good patient record including the familial and personal history, the examination and observation of behaviour is essential before starting the laboratory and imaging tests in a rational manner. At the outset, cytogenetic and molecular genetic studies are indicated to study fragile X syndrome and neuroimaging, preferably magnetic resonance, should be employed above all when anomalies are observed in the examination. Ophthalmologic and auditory evaluation is recommended in all cases. Routine metabolic screening is not indicated at the outset; studies to investigate thyroid (T4 and TSH) and other metabolic pathologies can be considered when the child has not been subject to neonatal metabolic screening or when there is clinical evidence of it. Routine electroencephalogram studies are not recommended, but can be considered if suggested by the clinical history. Likewise, the clinician may consider a study for toxins, if the clinical history suggests it, and a genetic study of Rett syndrome, in the case of girls with MR that cannot be accounted for by other causes.
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Aghakhanyan, Gayane; Bonanni, Paolo; Randazzo, Giovanna; Nappi, Sara; Tessarotto, Federica; De Martin, Lara; Frijia, Francesca; De Marchi, Daniele; De Masi, Francesco; Kuppers, Beate; Lombardo, Francesco; Caramella, Davide; Montanaro, Domenico
2016-01-01
Angelman syndrome (AS) is a rare neurogenetic disorder due to loss of expression of maternal ubiquitin-protein ligase E3A (UBE3A) gene. It is characterized by severe developmental delay, speech impairment, movement or balance disorder and typical behavioral uniqueness. Affected individuals show normal magnetic resonance imaging (MRI) findings, although mild dysmyelination may be observed. In this study, we adopted a quantitative MRI analysis with voxel-based morphometry (FSL-VBM) method to investigate disease-related changes in the cortical/subcortical grey matter (GM) structures. Since 2006 to 2013 twenty-six AS patients were assessed by our multidisciplinary team. From those, sixteen AS children with confirmed maternal 15q11-q13 deletions (mean age 7.7 ± 3.6 years) and twenty-one age-matched controls were recruited. The developmental delay and motor dysfunction were assessed using Bayley III and Gross Motor Function Measure (GMFM). Principal component analysis (PCA) was applied to the clinical and neuropsychological datasets. High-resolution T1-weighted images were acquired and FSL-VBM approach was applied to investigate differences in the local GM volume and to correlate clinical and neuropsychological changes in the regional distribution of GM. We found bilateral GM volume loss in AS compared to control children in the striatum, limbic structures, insular and orbitofrontal cortices. Voxel-wise correlation analysis with the principal components of the PCA output revealed a strong relationship with GM volume in the superior parietal lobule and precuneus on the left hemisphere. The anatomical distribution of cortical/subcortical GM changes plausibly related to several clinical features of the disease and may provide an important morphological underpinning for clinical and neurobehavioral symptoms in children with AS. PMID:27626634
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ERIC Educational Resources Information Center
Griffith, Jessica; McLaughlin, T. F.; Neyman, Jen; Donica, Denise K.; Robison, Milena
2013-01-01
The purpose of this study was to evaluate and measure the effectiveness of Handwriting Without Tears (HWT) modified gray block paper with letter writing on two preschool students diagnosed with developmental delays in pre-academics. Two students were selected from a self-contained special education preschool classroom in the Pacific Northwest. All…
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ERIC Educational Resources Information Center
Reichow, Brian; Barton, Erin E.; Good, Leslie; Wolery, Mark
2009-01-01
The purpose of this study was to examine the effects of wearing a pressure vest for a young boy with developmental delays. An A-B-A withdrawal design was used to examine the relation between wearing the pressure vest and child behaviors during a preschool art activity. Although the data showed moderate variability, no systematic differences were…
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Carbone, Vincent J; Sweeney-Kerwin, Emily J; Attanasio, Vivian; Kasper, Tamara
2010-01-01
The purpose of this study was to determine the effect of manual sign mand training combined with prompt delay and vocal prompting on the production of vocal responses in nonvocal children with developmental disabilities. A multiple baseline design across participants verified the effectiveness of this intervention. All participants showed increases in vocal responses following the implementation of the independent variables.
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Joint attention revisited: Finding strengths among children with autism.
Hurwitz, Sarah; Watson, Linda R
2016-07-01
Differences in joint attention are prominent for some children with autism and are often used as an indicator of the disorder. This study examined the joint attention competencies of young children with autism who demonstrated joint attention ability and compared them to children with developmental delays. A total of 40 children with autism and developmental delays were matched pairwise based on mental and chronological age. Videos of children engaging in play were coded for the frequency and forms (eye contact, gestures, affect, etc.) of joint attention. Additionally, concurrent language was compared among children with autism (N = 32) by their joint attention ability. Children with autism spectrum disorder entered into joint attention significantly less often than children with developmental delays, but once engaged used the forms of joint attention similarly. For the matched pairs, there were no differences in language, but the children with autism who used joint attention had significantly better language than children with autism who did not (even after controlling for mental age). There is a group of young children with autism who can use joint attention but do so at lower frequencies than children with developmental delays. Possible reasons include difficulty disengaging attention and limited intrinsic social motivation to share. Adult persistence is recommended to encourage joint attention. © The Author(s) 2015.
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A rare case of short stature: Say Meyer syndrome.
Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu
2013-10-01
Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.
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2011-01-01
Background Autism is a biological disorder with clearly defined phenomenology. Studies from the Middle East on this topic have been particularly rare. Little is known about the influence of culture on clinical features, presentations and management of autism. The current study was done to compare characteristics of autism in two groups of Egyptian as well as Saudi children. Methods The sample included 48 children with Autism Spectrum Disorder. They were recruited from the Okasha Institute of Psychiatry, Ain Shams University, Cairo, Egypt and Al-Amal Complex for Mental Health, Dammam, Kingdom of Saudi Arabia. They were grouped into an Egyptian group (n = 20) and a Saudi group (n = 28). They were assessed both clinically and psychometrically using the GARS, the Vineland adaptive behavioral scale, and the Stanford Binnet IQ test. Results Typical autism was more prevalent than atypical autism in both groups. There were no statistically significant differences in clinical variables like regression, hyperactivity, epilepsy or mental retardation. Delayed language development was significantly higher in the Egyptian group while delay in all developmental milestones was more significant in the Saudi group. The Vineland communication subscale showed more significant severe and profound communication defects in the Saudi group while the Gilliam developmental subscale showed significantly more average scores in the Egyptian group. Both groups differed significantly such that the age of noticing abnormality was younger in the Saudi group. The age at diagnosis and at the commencement of intervention was lower in the Egyptian group. The Saudi group showed a higher percentage of missing examinations, older birth order and significantly higher preference to drug treatment, while the Egyptian group showed a high preference to behavioral and phoniatric therapies, higher paternal and maternal education, higher employment among parents and higher family concern. Conclusion Cultural context may significantly influence the age of noticing abnormality, the age of starting intervention, developmental and perinatal problems, family concerns about managing the problem as well as familial tendency for neurodevelopmental disorders, all of which have important impact on clinical symptomatology and severity of autism. Culture also influences significantly the ways of investigating and treating autism. PMID:22051160
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Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie-Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Bütschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume
2017-07-19
Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play. Integrating genomics, transcriptomics, and epigenomics data, we describe two novel DLG2 promoters and coding first exons expressed in human fetal brain. Their murine conservation and protein-level evidence allowed us to produce new DLG2 gene models for human and mouse. These new genic elements are deleted in 90% of 29 patients (public and in-house) showing partial deletion of the DLG2 gene. The patients' clinical characteristics expand the neurodevelopmental phenotypic spectrum linked to DLG2 gene disruption to cognitive and behavioral categories. While protein-coding genes are regarded as well known, our work shows that integration of multiple omics datasets can unveil novel coding elements. From a clinical perspective, our work demonstrates that two new DLG2 promoters and exons are crucial for the neurodevelopmental phenotypes associated with this gene. In addition, our work brings evidence for the lack of cross-annotation in human versus mouse reference genomes and nucleotide versus protein databases.
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2013-01-01
Background The Individuals with Disabilities Education Act (Part C) authorizes states to establish systems to provide early intervention services (e.g., therapy) for children at risk, with the incentive of federal financial support. This study examines family and neighborhood characteristics associated with currently utilizing physical, occupational, or speech therapy among very low birthweight (VLBW) 2-year-old children who meet Wisconsin eligibility requirements for early intervention services (EI) due to developmental delay. Methods This cross-sectional analysis used data from the Newborn Lung Project, a regional cohort study of VLBW infants hospitalized in Wisconsin’s newborn intensive care units during 2003–2004. We included the 176 children who were age two at follow-up, and met Wisconsin state eligibility requirements for EI based on developmental delay. Exact logistic regression was used to describe child and neighborhood socio-demographic correlates of parent-reported receipt of therapy. Results Among VLBW children with developmental delay, currently utilizing therapy was higher among children with Medicaid (aOR = 5.3, 95% CI: 1.3, 28.3) and concomitant developmental disability (aOR = 5.2, 95% CI: 2.1, 13.3) and lower for those living in a socially more disadvantaged neighborhood (aOR=0.48, 95% CI: 0.21, 0.98, per tertile). Conclusions Among a sample of VLBW 2-year olds with developmental delays who are EI-eligible in WI, 4 out of 5 were currently receiving therapy, per parent report. Participation in Medicaid positively influences therapy utilization. Children with developmental difficulties who live in socially disadvantaged neighborhoods are at highest risk for not receiving therapy. PMID:23845161
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Zimmermann, Michael T.; Ferber, Matthew J.; Niu, Zhiyv; Urrutia, Raul A.; Klee, Eric W.; Babovic-Vuksanovic, Dusica
2017-01-01
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1. The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on cerebrospinal fluid testing. The second is a 5-yr-old female with severe developmental delay, motor and speech delay, and repetitive motion behavior. Whole-exome sequencing identified a novel missense NR2F1 variant in each case, Cys86Phe in the DNA-binding domain in Case 1, and a Leu372Pro in the ligand-binding domain in Case 2. The presence of clinical findings compatible with BBSOAS along with structural analysis at atomic resolution using homology-based molecular modeling and molecular dynamic simulations, support the pathogenicity of these variants for BBSOAS. Short stature, abnormal CNS neurotransmitters, and macrocephaly have not been previously reported for this syndrome and may represent a phenotypic expansion of BBSOAS. A review of published cases along with new evidence from this report support genotype–phenotype correlations for this disorder. PMID:28963436
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Editorial brain malformation surveillance in the Zika era
Trevathan, Edwin
2016-01-01
The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785
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Segel, Reeval; Levy-Lahad, Ephrat; Pasutto, Francesca; Picard, Elie; Rauch, Anita; Alterescu, Gheona; Schimmel, Michael S
2009-11-01
Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes. Copyright 2009 Wiley-Liss, Inc.
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Larizza, L; Finelli, P
2018-04-19
Advances in genomic analyses based on next-generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms. Disruption of chromatin-associated transcription machinery accounts for the phenotypic overlap of Cornelia de Lange with KBG and with syndromes of the epigenetic machinery. The genes responsible for Smith-Magenis-related disorders act in interconnected networks and the molecular signature of histone acetylation disorders joins Rubinstein-Taybi-related syndromes. Deciphering pathway interconnection of clinically similar ID syndromes may enhance search of common targets useful for developing new therapeutics. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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ERIC Educational Resources Information Center
Gray, Kylie M.; Tonge, Bruce J.; Sweeney, Deborah J.
2008-01-01
Few studies have focused on the validity of the ADI-R and ADOS in the assessment of preschool children with developmental delay. This study aimed to evaluate the diagnostic validity of the ADI-R and the ADOS in young children. Two-hundred and nine children aged 20-55 months participated in the study, 120 of whom received a diagnosis of autism.…
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ERIC Educational Resources Information Center
Ullery, Mary Anne; Gonzalez, Antonio; Katz, Lynne
2016-01-01
This study explores the long-term impact on participation in the Linda Ray Intervention Program (LRIP) for children (n = 54) who were developmentally delayed and prenatally exposed to cocaine. By identifying a group of programme graduates from a high crime/high poverty neighbourhood in Miami-Dade County using ArcGIS 10.2 software, a…
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ERIC Educational Resources Information Center
dos Santos, Marcio Jose Possari; Bernabe, Daniel Galera; Nakamune, Ana Claudia de Melo Stevanato; Perri, Silvia Helena Venturoli; de Aguiar, Sandra Maria Herondina Coelho Avila; de Oliveira, Sandra Helena Penha
2012-01-01
The purpose of this study was to analyze the alpha-amylase (sAA) and cortisol levels in children with Global developmental delay (GDD) before and after dental treatment and its association with the children's behavior during treatment. The morning salivary cortisol levels and activity of sAA of 33 children with GDD were evaluated before and after…
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Tanaka, Akemi J; Cho, Megan T; Willaert, Rebecca; Retterer, Kyle; Zarate, Yuri A; Bosanko, Katie; Stefans, Vikki; Oishi, Kimihiko; Williamson, Amy; Wilson, Golder N; Basinger, Alice; Barbaro-Dieber, Tina; Ortega, Lucia; Sorrentino, Susanna; Gabriel, Melissa K; Anderson, Ilse J; Sacoto, Maria J Guillen; Schnur, Rhonda E; Chung, Wendy K
2017-11-01
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 ( EBF3 ) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3 . © 2017 Tanaka et al.; Published by Cold Spring Harbor Laboratory Press.
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DOE Office of Scientific and Technical Information (OSTI.GOV)
Zachor, D.A.; Lofton, M.
1994-09-01
We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomalmore » analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.« less
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Long, Suzanne H; Galea, Mary P; Eldridge, Beverley J; Harris, Susan R
2012-08-01
Previous research on developmental outcomes of infants with congenital heart disease (CHD) has shown delays in both cognitive and motor skills. To describe outcomes on the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III) for infants with CHD and to compare those findings to published results for similar samples of infants assessed on the 2nd edition of the Bayley Scales (BSID-II). Prospective cohort. Of 50 infants with CHD who participated in this longitudinal study (2006-2008) at the Royal Children's Hospital in Melbourne, Australia, 47 were assessed on the Bayley-III (median age=24.5 months), administered by a psychologist or neonatologist. Although neither assessor was blind to the CHD diagnosis, they were unaware of results of previous developmental assessments conducted in this longitudinal study. For the Bayley-III cognitive composite score, 17.0% of infants showed mild delays (1-2 SD below the mean), 2.1% had moderate delays (2-3 SD below the mean), and none had severe delays (greater than 3 SD below the mean). Motor composite scores showed mild delays in 10.9% of infants and moderate delays in 2.2%; none had severe motor delays. These findings differ from study results using the BSID-II in similar infants. The Bayley-III may underestimate developmental delay in 2-year-old children with CHD when compared to results of similar children tested at 12-36 months of age on the BSID-II. Copyright © 2012 Elsevier Ltd. All rights reserved.
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ERIC Educational Resources Information Center
Giannoni, Peggy P.; Kass, Philip H.
2012-01-01
A retrospective cohort study was conducted to identify child, maternal, family, and community factors associated with rate of developmental disability among children enrolled in the California Early Start Program. The cohort included 8,987 children considered at high risk for developmental disability due to medical risks and/or developmental…
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Beligere, N; Rao, R
2008-12-01
There is a paucity of information on long-term outcome of infants who have suffered from meconium aspiration syndrome (MAS) in the neonatal period. We analyzed long-term developmental outcome data of 35 infants who were admitted to the neonatal intensive care unit (NICU) at the University of Illinois Hospital at Chicago (UICMC) with a diagnosis of MAS, and we reviewed the literature pertinent to the subject. The objective of the study was to assess the neurodevelopment status of MAS infants and compare the possible effects of different variables that are known to affect the later developmental outcome. The variables included mode of delivery, APGAR score, cord pH, mode of treatment, and neurological findings during the course of NICU. The infants were enrolled in the developmental follow-up program (DFUP) after discharge from the nursery for assessment of long-term developmental status and neurodevelopmental outcome. In order to assess the impact of the treatment on long-term outcome and compare our findings with previously published reports, we also reviewed the previously published literature on neurodevelopment outcome of infants treated for MAS (with different modalities) during the last three decades. Total of 35 infants with a diagnosis of MAS admitted to the NICU at UICMC were followed in the DFUP clinic for 3 years during January 1999 to September 2001. The medical records of these infants were reviewed for the mode of delivery, APGAR score, birth weight (BW), gestational age, mode of treatment during the neonatal period, and neurodevelopment status. 19/35 (54%) infants were delivered vaginally, 16/35 (46%) by cesarean section (C-section). All were treated in the delivery room using the standard resuscitation protocol. Following initial resuscitation, all except three required intubation and ventilation for varying duration. One infant required inhaled nitric oxide therapy, and two required extracorporeal membrane oxygenation treatment. Subsequent to discharge, the infants were evaluated in the clinic at 2 months of age, and then every 4 months up to 3 years. The developmental assessment of mental development index (MDI), psychomotor development index (PDI), and behavior rating scale (BRS) were obtained using the Bayley II infant motor scale, and neurodevelopment evaluation was performed using the Amiel-Tison technique. Speech evaluation was performed in infants >18 months using the Rossetti Infant-Toddler language scale. Infants were considered normal when MDI and PDI scores were >85 to 110; mildly delayed when scores were >70 to 84; and severely delayed if the scores were <69. In addition, neurological evaluation also confirmed the disability. The report is based on the final analysis of 29 infants. Data of six infants were not included in the final analysis because of incomplete information. The mean BW of the infants was 3269+/-671 g; mean gestational age was 39.5+/-3.1 weeks. The median APGAR score at 1' was 4, and at 5' was 6. Out of 29, 11 (38%) infants were normal. Out of 29, 2 infants (7%) had cerebral palsy (CP) and 4 (14%) had severe delay at 12 months of age. Out of 29, 2 who were neurologically disabled had PDI <69. Out of 29, 12 (41%) had mild delay in speech. No statistical difference in neurodevelopment was found in infants born vaginally or by C-section. Our findings show poor outcome (CP and global delay) in 21% of infants who suffered MAS, even though the majority of the infants (26/29) responded to conventional ventilator support alone. No difference was found in the outcome of infants between NSVD vs C-section delivery. These findings suggest that infants with the diagnosis of MAS manifest later neurodevelopmental delays, even if they respond well to conventional treatment. This abstract was presented at the Society for Pediatric Research Annual Meeting, 2000.
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Benki-Nugent, Sarah; Wamalwa, Dalton; Langat, Agnes; Tapia, Kenneth; Adhiambo, Judith; Chebet, Daisy; Okinyi, Helen Moraa; John-Stewart, Grace
2017-01-17
Infant HIV infection is associated with delayed milestone attainment. The extent to which effective antiretroviral therapy (ART) prevents these delays is not well defined. Ages at attainment of milestones were compared between HIV-infected (initiated ART by age <5 months), and HIV-unexposed uninfected (HUU) infants. Kaplan Meier analyses were used to estimate and compare (log-rank tests) ages at milestones between groups. Adjusted analyses were performed using Cox proportional hazards models. Seventy-three HIV-infected on ART (median enrollment age 3.7 months) and 92 HUU infants (median enrollment age 1.6 months) were followed prospectively. HIV-infected infants on ART had delays in developmental milestone attainment compared to HUU: median age at attainment of sitting with support, sitting unsupported, walking with support, walking unsupported, monosyllabic speech and throwing toys were each delayed (all p-values <0.0005). Compared with HUU, the subset of HIV-infected infants with both virologic suppression and immune recovery at 6 months had delays for speech (delay: 2.0 months; P = 0.0002) and trend to later walking unsupported. Among HIV-infected infants with poor 6-month post-ART responses (lacking viral suppression and immune recovery) there were greater delays versus HUU for: walking unsupported (delay: 4.0 months; P = 0.0001) and speech (delay: 5.0 months; P < 0.0001). HIV infected infants with viral suppression on ART had better recovery of developmental milestones than those without suppression, however, deficits persisted compared to uninfected infants. Earlier ART may be required for optimized cognitive outcomes in perinatally HIV-infected infants. NCT00428116 ; January 22, 2007.
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Engaging Pediatricians in Developmental Screening: The Effectiveness of Academic Detailing
ERIC Educational Resources Information Center
Honigfeld, Lisa; Chandhok, Laura; Spiegelman, Kenneth
2012-01-01
Use of formal developmental screening tools in the pediatric medical home improves early identification of children with developmental delays and disorders, including Autism Spectrum Disorders. A pilot study evaluated the impact of an academic detailing module in which trainers visited 43 pediatric primary care practices to provide education about…
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ERIC Educational Resources Information Center
Frolli, A.; Piscopo, S.; Conson, M.
2015-01-01
Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…
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Marino, Bradley S; Lipkin, Paul H; Newburger, Jane W; Peacock, Georgina; Gerdes, Marsha; Gaynor, J William; Mussatto, Kathleen A; Uzark, Karen; Goldberg, Caren S; Johnson, Walter H; Li, Jennifer; Smith, Sabrina E; Bellinger, David C; Mahle, William T
2012-08-28
The goal of this statement was to review the available literature on surveillance, screening, evaluation, and management strategies and put forward a scientific statement that would comprehensively review the literature and create recommendations to optimize neurodevelopmental outcome in the pediatric congenital heart disease (CHD) population. A writing group appointed by the American Heart Association and American Academy of Pediatrics reviewed the available literature addressing developmental disorder and disability and developmental delay in the CHD population, with specific attention given to surveillance, screening, evaluation, and management strategies. MEDLINE and Google Scholar database searches from 1966 to 2011 were performed for English-language articles cross-referencing CHD with pertinent search terms. The reference lists of identified articles were also searched. The American College of Cardiology/American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. A management algorithm was devised that stratified children with CHD on the basis of established risk factors. For those deemed to be at high risk for developmental disorder or disabilities or for developmental delay, formal, periodic developmental and medical evaluations are recommended. A CHD algorithm for surveillance, screening, evaluation, reevaluation, and management of developmental disorder or disability has been constructed to serve as a supplement to the 2006 American Academy of Pediatrics statement on developmental surveillance and screening. The proposed algorithm is designed to be carried out within the context of the medical home. This scientific statement is meant for medical providers within the medical home who care for patients with CHD. Children with CHD are at increased risk of developmental disorder or disabilities or developmental delay. Periodic developmental surveillance, screening, evaluation, and reevaluation throughout childhood may enhance identification of significant deficits, allowing for appropriate therapies and education to enhance later academic, behavioral, psychosocial, and adaptive functioning.
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Predictors of Poor School Readiness in Children Without Developmental Delay at Age 2
Dudovitz, Rebecca N.; Coker, Tumaini R.; Barnert, Elizabeth S.; Biely, Christopher; Li, Ning; Szilagyi, Peter G.; Larson, Kandyce; Halfon, Neal; Zimmerman, Frederick J.; Chung, Paul J.
2016-01-01
BACKGROUND AND OBJECTIVES: Current recommendations emphasize developmental screening and surveillance to identify developmental delays (DDs) for referral to early intervention (EI) services. Many young children without DDs, however, are at high risk for poor developmental and behavioral outcomes by school entry but are ineligible for EI. We developed models for 2-year-olds without DD that predict, at kindergarten entry, poor academic performance and high problem behaviors. METHODS: Data from the Early Childhood Longitudinal Study, Birth Cohort (ECLS-B), were used for this study. The analytic sample excluded children likely eligible for EI because of DDs or very low birth weight. Dependent variables included low academic scores and high problem behaviors at the kindergarten wave. Regression models were developed by using candidate predictors feasibly obtainable during typical 2-year well-child visits. Models were cross-validated internally on randomly selected subsamples. RESULTS: Approximately 24% of all 2-year-old children were ineligible for EI at 2 years of age but still had poor academic or behavioral outcomes at school entry. Prediction models each contain 9 variables, almost entirely parental, social, or economic. Four variables were associated with both academic and behavioral risk: parental education below bachelor’s degree, little/no shared reading at home, food insecurity, and fair/poor parental health. Areas under the receiver-operating characteristic curve were 0.76 for academic risk and 0.71 for behavioral risk. Adding the mental scale score from the Bayley Short Form–Research Edition did not improve areas under the receiver-operating characteristic curve for either model. CONCLUSIONS: Among children ineligible for EI services, a small set of clinically available variables at age 2 years predicted academic and behavioral outcomes at school entry. PMID:27432845
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An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh
2016-01-01
Prader–Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms – polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m2. He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases. PMID:27453871
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ERIC Educational Resources Information Center
Smith, Erin; McLaughlin, T. F.; Neyman, Jennifer; Rinaldi, Lisa
2013-01-01
This study was designed to examine the effects of tracing and fading prompts to improve the handwriting of two preschoolers both diagnosed as Developmentally Delayed (DD) and one of whom had fine motor goals. The study took place in a self-contained special education public preschool classroom located in the Pacific Northwest. The results showed…
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Turan, Figen; Ökçün Akçamuş, Meral Çilem
2013-01-01
This study aimed to compare imitation skills in children with autism spectrum disorder, and age-matched typically developing children and children with developmental delay, as well as to examine the association between imitation skills, and receptive and expressive language development in children with autism spectrum disorder. Imitation skills in children with autism spectrum disorder (n=18), and age-matched children with developmental delay (n=15) and typically developing children (n= 16) were assessed using the Motor Imitation Scale and Imitation Battery, and the differences in mean imitation scores between the groups were examined. Receptive language and expressive language development in the children with autism spectrum disorder were assessed using the Turkish Communicative Development Inventory (TCDI), and their association with imitation scores was explored. The children with autism spectrum disorder had significantly lower imitation scores than the children with developmental delay and typically developing children; however, there wasn't a significant difference in imitation scores between the children with developmental delay and typically developing children. A significant association between imitation scores, and receptive and expressive language development was observed in the children with autism spectrum disorder. The present findings indicate that deficient imitation skills are a distinctive feature of children with autism spectrum disorder and that imitation skills play a crucial role in children's language development.
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Kazim, Syed Faraz; Blanchard, Julie; Bianchi, Riccardo; Iqbal, Khalid
2017-01-01
Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability and is associated with a greatly increased risk of early-onset Alzheimer’s disease (AD). The Ts65Dn mouse model of DS exhibits several key features of the disease including developmental delay and AD-like cognitive impairment. Accumulating evidence suggests that impairments in early brain development caused by trisomy 21 contribute significantly to memory deficits in adult life in DS. Prenatal genetic testing to diagnose DS in utero, provides the novel opportunity to initiate early pharmacological treatment to target this critical period of brain development. Here, we report that prenatal to early postnatal treatment with a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic, Peptide 021 (P021), rescued developmental delay in pups and AD-like hippocampus-dependent memory impairments in adult life in Ts65Dn mice. Furthermore, this treatment prevented pre-synaptic protein deficit, decreased glycogen synthase kinase-3beta (GSK3β) activity, and increased levels of synaptic plasticity markers including brain derived neurotrophic factor (BNDF) and phosphorylated CREB, both in young (3-week-old) and adult (~ 7-month-old) Ts65Dn mice. These findings provide novel evidence that providing neurotrophic support during early brain development can prevent developmental delay and AD-like memory impairments in a DS mouse model. PMID:28368015
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Karalunas, Sarah L; Gustafsson, Hanna C; Dieckmann, Nathan F; Tipsord, Jessica; Mitchell, Suzanne H; Nigg, Joel T
2017-08-01
The role of cognitive mechanisms in the clinical course of neurodevelopmental disorders is poorly understood. Attention Deficit Hyperactivity Disorder (ADHD) is emblematic in that numerous alterations in cognitive development are apparent, yet how they relate to changes in symptom expression with age is unclear. To resolve the role of cognitive mechanisms in ADHD, a developmental perspective that takes into account expected within-group heterogeneity is needed. The current study uses an accelerated longitudinal design and latent trajectory growth mixture models in a sample of children ages 7-13 years carefully characterized as with (n = 437) and without (n = 297) ADHD to (a) identify heterogeneous developmental trajectories for response inhibition, visual spatial working memory maintenance, and delayed reward discounting and (b) to assess the relationships between these cognitive trajectories and ADHD symptom change. Best-fitting models indicated multiple trajectory classes in both the ADHD and typically developing samples, as well as distinct relationships between each cognitive process and ADHD symptom change. Developmental change in response inhibition and delayed reward discounting were unrelated to ADHD symptom change, while individual differences in the rate of visual spatial working memory maintenance improvement predicted symptom remission in ADHD. Characterizing heterogeneity in cognitive development will be crucial for clarifying mechanisms of symptom persistence and recovery. Results here suggest working memory maintenance may be uniquely related to ADHD symptom improvement. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
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Ananth, Amitha L; Robichaux-Viehoever, Amy; Kim, Young-Min; Hanson-Kahn, Andrea; Cox, Rachel; Enns, Gregory M; Strober, Jonathan; Willing, Marcia; Schlaggar, Bradley L; Wu, Yvonne W; Bernstein, Jonathan A
2016-06-01
Mutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four patients had a severe movement disorder as the prominent feature. We describe the largest series of patients with de novoGNAO1 mutations who have severe chorea, developmental delay, and hypotonia in the absence of epilepsy. Six patients with recurrent missense mutations in GNAO1 as detected by whole exome sequencing were identified at three institutions. We describe the presentation, clinical course, and response to treatment of these patients. All six patients exhibited global developmental delay and hypotonia from infancy. Chorea developed by age four years in all but one patient, who developed chorea at 14 years. Treatments with neuroleptics and tetrabenazine were most effective in the baseline management of chorea. The chorea became gradually progressive and marked by episodes of severe, refractory ballismus requiring intensive care unit admissions in four of six patients. Exacerbations indirectly led to the death of two patients. Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. Exacerbations may be refractory to treatment and can result in life-threatening secondary complications. Early and aggressive treatment of these exacerbations with direct admission to intensive care units for treatment with anesthetic drips may prevent some secondary complications. However the chorea and ballismus can be refractory to maximum medical therapy. Copyright © 2016 Elsevier Inc. All rights reserved.
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MacDonald, Megan; Lord, Catherine; Ulrich, Dale
2015-01-01
Objective To determine the relationship of motor skills and the core behaviors of young children with autism, social affective skills and repetitive behaviors, as indicated through the calibrated autism severity scores. Design The univariate GLM tested the relationship of gross and fine motor skills measured by the gross motor scale and the fine motor scale of the MSEL with autism symptomology as measured by calibrated autism severity scores. Setting Majority of the data collected took place in an autism clinic. Participants A cohort of 159 young children with ASD (n=110), PDD-NOS (n=26) and non-ASD (developmental delay, n=23) between the ages of 12–33 months were recruited from early intervention studies and clinical referrals. Children with non-ASD (developmental delay) were included in this study to provide a range of scores indicted through calibrated autism severity. Interventions Not applicable. Main Outcome Measures The primary outcome measures in this study were calibrated autism severity scores. Results Fine motor skills and gross motor skills significantly predicted calibrated autism severity (p < 0.01). Children with weaker motor skills displayed higher levels of calibrated autism severity. Conclusions The fine and gross motor skills are significantly related to autism symptomology. There is more to focus on and new avenues to explore in the realm of discovering how to implement early intervention and rehabilitation for young children with autism and motor skills need to be a part of the discussion. PMID:25774214
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Mohan, Shruthi; Koshy, Teena; Vekatachalam, Perumal; Nampoothiri, Sheela; Yesodharan, Dhanya; Gowrishankar, Kalpana; Kumar, Jeevan; Ravichandran, Latha; Joseph, Santhosh; Chandrasekaran, Anupama; Paul, Solomon F. D.
2016-01-01
Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD. Methods: One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols. Results: Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement. Interpretation & conclusions: The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH. PMID:27934799
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van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M
2014-01-01
Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. © 2013 Wiley Periodicals, Inc.
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Veroniki, Areti Angeliki; Rios, Patricia; Cogo, Elise; Straus, Sharon E; Finkelstein, Yaron; Kealey, Ryan; Reynen, Emily; Soobiah, Charlene; Thavorn, Kednapa; Hutton, Brian; Hemmelgarn, Brenda R; Yazdi, Fatemeh; D'Souza, Jennifer; MacDonald, Heather; Tricco, Andrea C
2017-07-20
Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. 29 cohort studies including 5100 infants/children. Monotherapy and polytherapy AEDs including first-generation (carbamazepine, clobazam, clonazepam, ethosuximide, phenobarbital, phenytoin, primidone, valproate) and newer-generation (gabapentin, lamotrigine, levetiracetam, oxcarbazepine, topiramate, vigabatrin) AEDs. Epileptic women who did not receive AEDs during pregnancy or breast feeding served as the control group. Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcomes. The NMA on cognitive developmental delay (11 cohort studies, 933 children, 18 treatments) suggested that among all AEDs only valproate was statistically significantly associated with more children experiencing cognitive developmental delay compared with control (OR=7.40, 95% credible interval (CrI) 3.00 to 18.46). The NMA on autism (5 cohort studies, 2551 children, 12 treatments) suggested that oxcarbazepine (OR 13.51, CrI 1.28 to 221.40), valproate (OR 17.29, 95% CrI 2.40 to 217.60), lamotrigine (OR 8.88, CrI 1.28 to 112.00) and lamotrigine+valproate (OR 132.70, CrI 7.41 to 3851.00) were associated with significantly greater odds of developing autism compared with control. The NMA on psychomotor developmental delay (11 cohort studies, 1145 children, 18 treatments) found that valproate (OR 4.16, CrI 2.04 to 8.75) and carbamazepine+phenobarbital+valproate (OR 19.12, CrI 1.49 to 337.50) were associated with significantly greater odds of psychomotor delay compared with control. Valproate alone or combined with another AED is associated with the greatest odds of adverse neurodevelopmental outcomes compared with control. Oxcarbazepine and lamotrigine were associated with increased occurrence of autism. Counselling is advised for women considering pregnancy to tailor the safest regimen. PROSPERO database (CRD42014008925). © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
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Veroniki, Areti Angeliki; Rios, Patricia; Cogo, Elise; Straus, Sharon E; Finkelstein, Yaron; Kealey, Ryan; Reynen, Emily; Soobiah, Charlene; Thavorn, Kednapa; Hutton, Brian; Hemmelgarn, Brenda R; Yazdi, Fatemeh; D'Souza, Jennifer; MacDonald, Heather; Tricco, Andrea C
2017-01-01
Objectives Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. Design and setting Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. Participants 29 cohort studies including 5100 infants/children. Interventions Monotherapy and polytherapy AEDs including first-generation (carbamazepine, clobazam, clonazepam, ethosuximide, phenobarbital, phenytoin, primidone, valproate) and newer-generation (gabapentin, lamotrigine, levetiracetam, oxcarbazepine, topiramate, vigabatrin) AEDs. Epileptic women who did not receive AEDs during pregnancy or breast feeding served as the control group. Primary and secondary outcome measures Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcomes. Results The NMA on cognitive developmental delay (11 cohort studies, 933 children, 18 treatments) suggested that among all AEDs only valproate was statistically significantly associated with more children experiencing cognitive developmental delay compared with control (OR=7.40, 95% credible interval (CrI) 3.00 to 18.46). The NMA on autism (5 cohort studies, 2551 children, 12 treatments) suggested that oxcarbazepine (OR 13.51, CrI 1.28 to 221.40), valproate (OR 17.29, 95% CrI 2.40 to 217.60), lamotrigine (OR 8.88, CrI 1.28 to 112.00) and lamotrigine+valproate (OR 132.70, CrI 7.41 to 3851.00) were associated with significantly greater odds of developing autism compared with control. The NMA on psychomotor developmental delay (11 cohort studies, 1145 children, 18 treatments) found that valproate (OR 4.16, CrI 2.04 to 8.75) and carbamazepine+phenobarbital+valproate (OR 19.12, CrI 1.49 to 337.50) were associated with significantly greater odds of psychomotor delay compared with control. Conclusions Valproate alone or combined with another AED is associated with the greatest odds of adverse neurodevelopmental outcomes compared with control. Oxcarbazepine and lamotrigine were associated with increased occurrence of autism. Counselling is advised for women considering pregnancy to tailor the safest regimen. Trial registration number PROSPERO database (CRD42014008925). PMID:28729328
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Developmental and Autism Screening: A Survey across Six States
ERIC Educational Resources Information Center
Arunyanart, Wirongrong; Fenick, Ada; Ukritchon, Supak; Imjaijitt, Worarachanee; Northrup, Veronika; Weitzman, Carol
2012-01-01
The American Academy of Pediatrics (AAP) recommends screening children for developmental delay and autism. Studies of current screening practice to date have been limited in scope and primarily focused on small, local samples. This study is designed to determine compliance with AAP screening recommendations: (1) developmental screening at 9, 18,…
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Lin, Jean-Pierre; Nardocci, Nardo
2016-01-01
Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize the role of early postures and movements which characterize phases of normal fetal, infant, and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of cocontraction is explored throughout infancy, childhood, young adulthood, and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within CP is reviewed. Original descriptions of CP by Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible are desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate. A developmental neurobiological perspective could also be useful in exploring new clinical strategies for adult-onset dystonia disorders focusing on environmental and molecular interactions and systems behaviors. PMID:28066314
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Peter, Beate; Lancaster, Hope; Vose, Caitlin; Fares, Amna; Schrauwen, Isabelle; Huentelman, Matthew
2017-10-01
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date. Both children have hypotonia, motor speech disorders, and expressive language delays. Patient 1's speech was characterized by childhood apraxia of speech (CAS) and dysarthria. Other findings include developmental delay, ataxic cerebral palsy, optic nerve dysplagia, and atypical brain morphologies regarding the corpus callosum and gyration patterns, a clinical profile that closely matches a previously reported case with a nearly identical deletion. Patient 2 had speech characterized by CAS and typical nonverbal processing abilities. His father, a carrier, had typical speech and language but showed difficulties with complex motor speech and hand motor tasks, similar to other adults with residual signs of CAS. The small deletion in this family contains the IGF2R-AIRN-SLC22A2-SLC22A3 gene cluster, which is associated with imprinting and maternal-specific expression of Igf2R, Slc22a2, and Slc22a3 in mice, whereas imprinting in humans is a polymorphic trait. The shared phenotypes in the two patients might be associated with the deletion of the gene cluster. © 2017 Wiley Periodicals, Inc.
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The Effect of Cognitive Restructuring on Delay of Gratification.
ERIC Educational Resources Information Center
Nisan, Mordecai; Koriat, Asher
1984-01-01
Two experiments evaluated predictions derived from a cognitive-developmental approach to delay of gratification. In the first, kindergarten children were asked to make a choice between a small immediate and a large delayed reward. In the second, children were presented with either an objective-rational or a subjective-emotional argument…
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ERIC Educational Resources Information Center
La Fountain, Rebecca; Geoffroy, Kevin
This study was conducted to investigate the effect that a parent support group and a counseling group had on the stress levels, self-esteem, and degree of coping of parents (N=48) of developmentally delayed or handicapped infants enrolled in an infant intervention program. It was hypothesized that, compared to parents in the control group, parents…
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Animal models suggest that the immature immune system is more susceptible to xenobiotics than the fully mature system, and sequelae of developmental immunotoxicant exposure may be persistent well into adulthood. Immune maturation may be delayed by xenobiotic exposure and recover...
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Development and characteristics of children with Usher syndrome and CHARGE syndrome.
Dammeyer, Jesper
2012-09-01
Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
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... the child just doesn’t want to talk). Cerebral palsy (a movement disorder caused by brain damage). Why ... staff Categories: Family Health, Kids and TeensTags: autism, cerebral palsy, child, developmental delay, hearing loss, teenager June 1, ...
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Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.
Cameron, F; Xu, J; Jung, J; Prasad, C
2013-11-01
Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies. Puce d'hybridation génomique comparative et retard de développement : un outil diagnostic pour les neurologues. Le retard de développement survient chez 1 à 3% de la population et son étiologie est inconnue chez à peu près 50% des cas. L'évaluation génétique initiale pour un retard de développement incluait antérieurement une analyse chromosomique et une analyse par FISH (hybridation in situ en fluorescence) de régions subtélomériques. La puce d'hybridation génomique comparative (CGHa) est devenue un outil de détection des changements du nombre de copies géniques ainsi que de la disomie uniparentale et elle est le test le plus sensible pour fournir un diagnostic étiologique dans le retard de développement. Le CGHa permet d'offrir un pronostic et un risque de récurrence, améliore l'accès aux ressources, aide à limiter les évaluations et peut modifier le traitement médical dans bien des cas. Le CGHa a mené à la définition de nouveaux syndromes génétiques associés à un retard de développement. À titre d'exemple, nous décrivons le cas d'un homme âgé de 31 ans qui présentait un retard de développement global depuis longtemps et chez qui un syndrome associé à une délétion 4q21 a été diagnostiqué récemment, soit une délétion de 20,8 Mb. Le CGHa est maintenant recommandé comme test de première ligne chez les enfants et les adultes présentant un retard de développement et des anomalies congénitales.
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Beqaj, Samire; Jusaj, Njomza; Živković, Vujica
2017-08-01
Aim To investigate the age (in months) at which motor skills are developed in children with Down syndrome (DS), and compare it to the age of the development of the same skills in both, children with typical development (TD), and children with DS reported by four other studies. Methods Sixteen children (7 girls and 9 boys) were monthly assessed for the development of nineteen motor skills between 2008 and 2011. The mean ages when the skills were accomplished were presented using descriptive statistics. Independent T-samples test (significance < 0.05) was used to compare the mean developmental ages from our study with those seen in children with TD (Comparison 1) and also in children with DS reported by four other authors (Comparison 2a-2d). Results Children with DS developed at a significantly slower pace compared to children with TD (p=0.005). Generally, delay and variance of developmental age in children with DS increased chronologically with the complexity of the skills. No significant difference was found between developmental age in children from the present study and children with DS from other studies. Conclusion The rate of attainment of motor skills is delayed in children with DS in comparison to children with TD, however, the developmental sequence is the same. The delayed development is more prominent in more complex skills. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.
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International adoption: a health and developmental prospective.
Mason, Patrick; Narad, Christine
2005-02-01
Adoptions from international countries have become an option for many US families, with over 150,000 children adopted in the past 14 years. Typically, internationally adopted children present with a host of medical and developmental concerns. Issues such as growth stunting, abnormal behaviors, and significant delays in motor, speech, and language development are likely directly related to the prenatal and early postnatal environment experienced prior to adoption. The new family and its health-care team must quickly work to identify and address these issues to aid the child's integration into his or her new family. This article will examine potential issues seen in children who are being adopted, including the impact of early environment on subsequent development. We will summarize early and long-term medical issues and review the extent of developmental delays seen in children adopted internationally. Finally, we will discuss possible mechanisms leading to the observed delays, including the impact of stress on subsequent development. By understanding the extent of expected delays and the mechanisms likely causing the issues, the health-care team will be in a good position to quickly identify and develop intervention protocols that will foster the child's assimilation into his or her new family.
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Dabar, Deepti; Das, Ranjan; Nagesh, Seetharamaiya; Yadav, Vikas; Mangal, Abha
2016-12-01
Optimal development of children in their early months and years has a bearing on their achievement levels later in life. To assess the socio-emotional and cognitive development in children 0-5 years and to find out the proportion of children having developmental delay and its associated factors. A community-based cross-sectional study was carried out in 520 children in Delhi. Development was assessed using the Indian Council for Medical Research Development Screening Test. In all, 10.6% of children <5 years old were found to be developmentally delayed. Maximum number of children (10.1%) were found to have a delay in the do main of 'hearing language, concept development'. Of all the factors, the strongest association was found with stunting, paternal education, alcohol abuse, attendance in anganwadi/playschool. The study concludes that developmental delay is present in a sizable proportion of children <5 years of age and may be a significant factor in the overall achievement of life's potential in them. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood.
Christiansz, Jessica A; Gray, Kylie M; Taffe, John; Tonge, Bruce J
2016-06-01
Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5 years of age. This study evaluated 185 children aged 20-55 months with DSM-IV PDD or developmental delay. Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) data was assigned to DSM-5 subdomains. Children displaying the required symptomatology were classified with DSM-5 ASD. DSM-IV clinical diagnoses were compared to DSM-5 classifications. Using combined ADI-R/ADOS information, sensitivity was .84 and specificity was .54. Comorbid behaviour and emotional problems were significantly lower in children with PDD that did not meet DSM-5 criteria.
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Chu, Ching-Lin; Chiang, Chung-Hsin; Wu, Chin-Chin; Hou, Yuh-Ming; Liu, Jiun-Horng
2017-07-01
Chiayi is a rural county located in southwestern Taiwan, and the effectiveness of its early intervention service system for autism spectrum disorders was studied in detail. A total of 71 children with autism spectrum disorders ( n = 35) and developmental delay ( n = 36) aged 2.5 years were referred from the only Early Intervention Reporting and Referral Center in Chiayi and followed up at 4 years. Results showed relatively low and varied services of early intervention for both groups during two time-point periods and a relative lack of specific early intervention programs for children with autism spectrum disorders. It was found, however, that cognitive abilities were increased for autism spectrum disorders and developmental delay groups. Additionally, the Early Learning Score at the initial evaluation could contribute to the high learner autism spectrum disorders subgroup. Parental socio-economic level was also determined to benefit the high learner developmental delay subgroup.
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Buckley, Lauren B; Nufio, César R; Kirk, Evan M; Kingsolver, Joel G
2015-06-22
Annual species may increase reproduction by increasing adult body size through extended development, but risk being unable to complete development in seasonally limited environments. Synthetic reviews indicate that most, but not all, species have responded to recent climate warming by advancing the seasonal timing of adult emergence or reproduction. Here, we show that 50 years of climate change have delayed development in high-elevation, season-limited grasshopper populations, but advanced development in populations at lower elevations. Developmental delays are most pronounced for early-season species, which might benefit most from delaying development when released from seasonal time constraints. Rearing experiments confirm that population, elevation and temperature interact to determine development time. Population differences in developmental plasticity may account for variability in phenological shifts among adults. An integrated consideration of the full life cycle that considers local adaptation and plasticity may be essential for understanding and predicting responses to climate change. © 2015 The Author(s) Published by the Royal Society. All rights reserved.
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Why wait? Three mechanisms selecting for environment-dependent developmental delays.
Scott, M F; Otto, S P
2014-10-01
Many species delay development unless particular environments or rare disturbance events occur. How can such a strategy be favoured over continued development? Typically, it is assumed that continued development (e.g. germination) is not advantageous in environments that have low juvenile/seedling survival (mechanism 1), either due to abiotic or competitive effects. However, it has not previously been shown how low early survival must be in order to favour environment-specific developmental delays for long-lived species. Using seed dormancy as an example of developmental delays, we identify a threshold level of seedling survival in 'bad' environments below which selection can favour germination that is limited to 'good' environments. This can be used to evaluate whether observed differences in seedling survival are sufficient to favour conditional germination. We also present mathematical models that demonstrate two other, often overlooked, mechanisms that can favour conditional germination in the absence of differences in seedling survival. Specifically, physiological trade-offs can make it difficult to have germination rates that are equally high in all environments (mechanism 2). We show that such trade-offs can either favour conditional germination or intermediate (mixed) strategies, depending on the trade-off shape. Finally, germination in every year increases the likelihood that some individuals are killed in population-scale disturbances before reproducing; it can thus be favourable to only germinate immediately after a disturbance (mechanism 3). We demonstrate how demographic data can be used to evaluate these selection pressures. By presenting these three mechanisms and the conditions that favour conditional germination in each case, we provide three hypotheses that can be tested as explanations for the evolution of environment-dependent developmental delays. © 2014 European Society for Evolutionary Biology. Journal of Evolutionary Biology © 2014 European Society For Evolutionary Biology.
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A plea for developmental motor screening in Canadian infants.
Harris, Susan R
2016-04-01
Motor delays during infancy may be the first observable sign of a specific neurodevelopmental disability or of more global developmental delays. The earlier such disorders are identified, the sooner these infants can be referred for early intervention services. Although developmental motor screening is strongly recommended in other Western countries, Canada has yet to provide a developmental surveillance and screening program. Ideally, screening for motor disabilities should occur as part of the 12-month well-baby visit. In advance of that visit, parents can be provided with a parent-screening questionnaire that they can complete and bring with them to their 12-month office visit. Interpretation of the parent-completed questionnaire takes only 2 min to 3 min of the health care professional's time and, based on the results, can either reassure parents that their infant is developing typically, or lead to a referral for standardized motor screening or assessment by a paediatric physical or occupational therapist.
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2011-01-01
Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal. Methods We describe the clinical, biochemical and molecular characterisation, as well as electron microscopy findings of skin, in 15 patients newly diagnosed with this rare type of Ehlers-Danlos syndrome. Results Age at diagnosis ranged from 5 months to 27 years, with only 1/3 of the patients been diagnosed correctly in the first year of life. A similar disease frequency was found in females and males, however a broad disease severity spectrum (intra- and interfamilial), independent of molecular background or biochemical phenotype, was observed. Kyphoscoliosis, one of the main clinical features was not present at birth in 4 patients. Importantly we also noted the occurrence of vascular rupture antenatally and postnatally, as well as developmental delay in 5 patients. Conclusion In view of these findings we propose that EDS VIA is a highly variable clinical entity, presenting with a broad clinical spectrum, which may also be associated with cognitive delay and an increased risk for vascular events. Genotype/phenotype association studies and additional molecular investigations in more extended EDS VIA populations will be necessary to further elucidate the cause of the variability of the disease severity. PMID:21699693
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ERIC Educational Resources Information Center
Richman, D. M.
2008-01-01
The ontogeny of self-injurious behaviour exhibited by young children with developmental delays or disabilities is due to a complex interaction between neurobiological and environmental variables. In this manuscript, the literature on emerging self-injury in the developmental disability population is reviewed with a focus on an operant conceptual…
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Speech Perception and Short-Term Memory Deficits in Persistent Developmental Speech Disorder
ERIC Educational Resources Information Center
Kenney, Mary Kay; Barac-Cikoja, Dragana; Finnegan, Kimberly; Jeffries, Neal; Ludlow, Christy L.
2006-01-01
Children with developmental speech disorders may have additional deficits in speech perception and/or short-term memory. To determine whether these are only transient developmental delays that can accompany the disorder in childhood or persist as part of the speech disorder, adults with a persistent familial speech disorder were tested on speech…
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Yatsuga, Shuichi; Saikusa, Tomoko; Sasaki, Takako; Ushijima, Kikumi; Kitamura, Miyuki; Nishioka, Junko; Koga, Yasutoshi
2016-08-10
Thyroid dysfunction can induce developmental delay and failure to thrive in infancy. Congenital hypothyroidism is one of the common causes of these symptoms in infancy. By contrast, hyperthyroidism is a rare cause of these symptoms in infancy. A 7-month-old Japanese baby boy was examined for developmental delay and failure to thrive. Blood tests were performed, which showed low levels of thyroid-stimulating hormone (<0.01 μU/mL) and high levels of free thyroxine (2.14 pg/mL). He was referred to our hospital at 8 months of age. His height was 64 cm (-2.7 standard deviation) and his weight was 6085 g (-2.5 standard deviation). No goiter was detected on examination. His thyrotropin receptor antibody was slightly high (3.9 IU/L), whereas thyroid stimulating antibody, anti-thyroglobulin antibody, and thyroid peroxidase antibody were within normal range. These blood findings indicated hyperthyroidism, most likely Graves' disease. His free thyroxine level decreased in the first month after our examination. No increased vascularity of his thyroid gland was noted. The technetium uptake of his thyroid gland in scintigraphy was relatively increased compared to the intake of his salivary gland. We elected to observe rather than treat with anti-thyroid medications. We have to rule out spontaneous transient Graves' thyrotoxicosis when babies have symptoms of developmental delay and fail to thrive.
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Third branchial cleft anomaly presenting as a retropharyngeal abscess.
Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L
2000-08-31
Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.
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Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.
Morokawa, Hirokazu; Kamiya, Motoko; Wakui, Keiko; Kobayashi, Mikiko; Kurata, Takashi; Matsuda, Kazuyuki; Kawamura, Rie; Kanno, Hiroyuki; Fukushima, Yoshimitsu; Nakazawa, Yozo; Kosho, Tomoki
2018-01-01
We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constitutional pure duplication 1q41-qter include developmental delay, craniofacial characteristics, foot malformation, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown.
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DOE Office of Scientific and Technical Information (OSTI.GOV)
Furforo, L.; Rittler, M.; Slavutsky, I.R.
We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12{r_arrow}q21.3). This abnormality was suggested by G-and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. 12 refs., 4 figs., 1 tab.
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Lisanti, Amy Jo; Cribben, Jeanne; Connock, Erin McManus; Lessen, Rachelle; Medoff-Cooper, Barbara
2016-03-01
Newborn infants with complex congenital heart disease are at risk for developmental delay. Developmental care practices benefit prematurely born infants in neonatal intensive care units. Cardiac intensive care units until recently had not integrated developmental care practices into their care framework. Interdisciplinary developmental care rounds in our center have helped in the promotion of developmentally supportive care for infants before and after cardiac surgery. This article discusses basic principles of developmental care, the role of each member of the interdisciplinary team on rounds, common developmental care practices integrated into care from rounds, and impacts to patients, families, and staff. Copyright © 2016 Elsevier Inc. All rights reserved.
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Brennan, Marie-Luise; Adam, Margaret P; Seaver, Laurie H; Myers, Angela; Schelley, Susan; Zadeh, Neda; Hudgins, Louanne; Bernstein, Jonathan A
2015-01-01
The diagnosis of Angelman syndrome (AS) is based on clinical features and genetic testing. Developmental delay, severe speech impairment, ataxia, atypical behavior and microcephaly by two years of age are typical. Feeding difficulties in young infants and obesity in late childhood can also be seen. The NIH Angelman-Rett-Prader-Willi Consortium and others have documented genotype-phenotype associations including an increased body mass index in children with uniparental disomy (UPD) or imprinting center (IC) defects. We recently encountered four cases of infantile obesity in non-deletion AS cases, and therefore examined body mass measures in a cohort of non-deletion AS cases. We report on 16 infants and toddlers (ages 6 to 44 months; 6 female, and 10 male) with severe developmental delay. Birth weights were appropriate for gestational age in most cases, >97th% in one case and not available in four cases. The molecular subclass case distribution consisted of: UPD (n = 2), IC defect (n = 3), UPD or IC defect (n = 3), and UBE3A mutation (n = 8). Almost all (7 out of 8) UPD, IC and UPD/IC cases went on to exhibit >90th% age- and gender-appropriate weight for height or BMI within the first 44 months. In contrast, no UBE3A mutation cases exhibited obesity or pre-obesity measures (percentiles ranged from <3% to 55%). These findings demonstrate that increased body mass may be evident as early as the first year of life and highlight the utility of considering the diagnosis of AS in the obese infant or toddler with developmental delay, especially when severe. Although a mechanism explaining the association of UPD, and IC defects with obesity has not been identified, recognition of this correlation may inform investigation of imprinting at the PWS/AS locus and obesity. © 2014 Wiley Periodicals, Inc.
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Deffeyes, Joan E; Harbourne, Regina T; DeJong, Stacey L; Kyvelidou, Anastasia; Stuberg, Wayne A; Stergiou, Nicholas
2009-01-01
Background By quantifying the information entropy of postural sway data, the complexity of the postural movement of different populations can be assessed, giving insight into pathologic motor control functioning. Methods In this study, developmental delay of motor control function in infants was assessed by analysis of sitting postural sway data acquired from force plate center of pressure measurements. Two types of entropy measures were used: symbolic entropy, including a new asymmetric symbolic entropy measure, and approximate entropy, a more widely used entropy measure. For each method of analysis, parameters were adjusted to optimize the separation of the results from the infants with delayed development from infants with typical development. Results The method that gave the widest separation between the populations was the asymmetric symbolic entropy method, which we developed by modification of the symbolic entropy algorithm. The approximate entropy algorithm also performed well, using parameters optimized for the infant sitting data. The infants with delayed development were found to have less complex patterns of postural sway in the medial-lateral direction, and were found to have different left-right symmetry in their postural sway, as compared to typically developing infants. Conclusion The results of this study indicate that optimization of the entropy algorithm for infant sitting postural sway data can greatly improve the ability to separate the infants with developmental delay from typically developing infants. PMID:19671183
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Validity of False Belief Tasks in Blind Children
ERIC Educational Resources Information Center
Brambring, Michael; Asbrock, Doreen
2010-01-01
Previous studies have reported that congenitally blind children without any additional impairment reveal a developmental delay of at least 4 years in perspective taking based on testing first-order false-belief tasks. These authors interpret this delay as a sign of autism-like behavior. However, the delay may be caused by testing blind children…
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Comparison of Progressive Prompt Delay with and without Instructive Feedback
ERIC Educational Resources Information Center
Reichow, Brian; Wolery, Mark
2011-01-01
We examined the effectiveness and efficiency of 2 instructional arrangements using progressive prompt delay (PPD) with 3 young children with autism and 1 child with developmental delays. Specifically, we compared PPD with instructive feedback (IF) to PPD without IF in an adapted alternating treatment design. The results suggested that (a) children…
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Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.
Vergara-Mendez, Laura Daniela; Talero-Gutiérrez, Claudia; Velez-Van-Meerbeke, Alberto
2018-03-01
We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).
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Cochlear implant outcomes in children with motor developmental delay.
Amirsalari, Susan; Yousefi, Jaleh; Radfar, Shokofeh; Saburi, Amin; Tavallaie, Seyed Abbas; Hosseini, Mohammad Javad; Noohi, Sima; Hassan Alifard, Mahdieh; Ajallouyean, Mohammad
2012-01-01
Multiple handicapped children and children with syndromes and conditions resulting additional disabilities such as cerebral palsy, global developmental delay and autistic spectrum disorder, are now not routinely precluded from receiving a cochlear implant. The primary focus of this study was to determine the effect of cochlear implants on the speech perception and intelligibility of deaf children with and without motor development delay. In a cohort study, we compared cochlear implant outcomes in two groups of deaf children with or without motor developmental delay (MDD). Among 262 children with pre-lingual profound hearing loss, 28 (10%) had a motor delay based on Gross Motor Function Classification (GMFC). Children with severe motor delays (classification scale levels 4 and 5) and cognitive delays were excluded. All children completed the Categories of Auditory Perception Scales (CAP) and Speech Intelligibility Rating (SIR) prior to surgery and 24 months after the device was activated. The mean age for the study population was 4.09 ± 1.86 years. In all 262 patients the mean CAP score after surgery (5.38 ± 0.043) had a marked difference in comparison with the mean score before surgery (0.482 ± 0.018) (P=0.001). The mean CAP score after surgery for MDD children was 5.03, and was 5.77 for normal motor development children (NMD). The mean SIR score after surgery for MDD children was 2.53, and was 2.66 for NMD children. The final results of CAP and SIR did not have significant difference between NMD children versus MDD children (P>0.05). Regarding to the result, we concluded that children with hearing loss and concomitant MDD as an additional disabilities can benefit from cochlear implantation similar to those of NMD. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
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Murillo-Rincón, Andrea P; Kolter, Nora A; Laurila, Anssi; Orizaola, Germán
2017-01-01
In seasonal environments, modifications in the phenology of life-history events can alter the strength of time constraints experienced by organisms. Offspring can compensate for a change in timing of hatching by modifying their growth and development trajectories. However, intra- and interspecific interactions may affect these compensatory responses, in particular if differences in phenology between cohorts lead to significant priority effects (i.e. the competitive advantage that early-hatching individuals have over late-hatching ones). Here, we conducted a factorial experiment to determine whether intraspecific priority effects can alter compensatory phenotypic responses to hatching delay in a synchronic breeder by rearing moor frog (Rana arvalis) tadpoles in different combinations of phenological delay and food abundance. Tadpoles compensated for the hatching delay by speeding up their development, but only when reared in groups of individuals with identical hatching phenology. In mixed phenology groups, strong competitive effects by non-delayed tadpoles prevented the compensatory responses and delayed larvae metamorphosed later than in single phenology treatments. Non-delayed individuals gained advantage from developing with delayed larvae by increasing their developmental and growth rates as compared to single phenology groups. Food shortage prolonged larval period and reduced mass at metamorphosis in all treatments, but it did not prevent compensatory developmental responses in larvae reared in single phenology groups. This study demonstrates that strong intraspecific priority effects can constrain the compensatory growth and developmental responses to phenological change, and that priority effects can be an important factor explaining the maintenance of synchronic life histories (i.e. explosive breeding) in seasonal environments. © 2016 The Authors. Journal of Animal Ecology © 2016 British Ecological Society.
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Yang, Hui; Douglas, Ganka; Monaghan, Kristin G; Retterer, Kyle; Cho, Megan T; Escobar, Luis F; Tucker, Megan E; Stoler, Joan; Rodan, Lance H; Stein, Diane; Marks, Warren; Enns, Gregory M; Platt, Julia; Cox, Rachel; Wheeler, Patricia G; Crain, Carrie; Calhoun, Amy; Tryon, Rebecca; Richard, Gabriele; Vitazka, Patrik; Chung, Wendy K
2015-10-01
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype.
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Beyond pragmatics: morphosyntactic development in autism.
Eigsti, Inge-Marie; Bennetto, Loisa; Dadlani, Mamta B
2007-07-01
Language acquisition research in autism has traditionally focused on high-level pragmatic deficits. Few studies have examined grammatical abilities in autism, with mixed findings. The present study addresses this gap in the literature by providing a detailed investigation of syntactic and higher-level discourse abilities in verbal children with autism, age 5 years. Findings indicate clear language difficulties that go beyond what would be expected based on developmental level; specifically, syntactic delays, impairments in discourse management and increased production of non-meaningful words (jargon). The present study indicates a highly specific pattern of language impairments, and importantly, syntactic delays, in a group of children with autism carefully matched on lexical level and non-verbal mental age with children with developmental delays and typical development.
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ERIC Educational Resources Information Center
Davis, Allyson L.; Neece, Cameron L.
2017-01-01
Introduction: Studies have shown that parents of children with pervasive developmental disorders (PDD) exhibit higher levels of stress than parents of typically developing children or children with other types of developmental delays (DD). This relationship appears to be mediated by elevated levels of behavior problems observed in children with…
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Genetics and the investigation of developmental delay/intellectual disability.
Srour, Myriam; Shevell, Michael
2014-04-01
Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family. Genetic causes are estimated to be responsible for approximately a quarter to one-half of identified cases. The multiplicity of individually rare genetic causes challenges the practitioner with respect to the selection of diagnostic tests and accurate diagnosis. To assist the practitioner practice guidelines have been formulated and these are reviewed and summarised in this particular article.
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Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.
Lyons, C J; Castano, G; McCormick, A Q; Applegarth, D
2004-02-01
Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these. Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.
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Newland, Rebecca P; Crnic, Keith A
2017-01-01
Despite the compelling nature of goodness of fit, empirical support has lagged for this construct. The present study examined an interactional approach to measuring goodness of fit and prospectively explored associations with mother-child relationship quality, child behavior problems, and parenting stress across the preschool period. In addition, as goodness of fit might be particularly important for children at developmental risk, the presence of early developmental delay was considered as a moderator of goodness of fit processes. Children with ( n = 110) and without ( n = 137) developmental delays and their mothers were coded while interacting in the lab at child age 36 months and during naturalistic home observations at child ages 36 and 48 months. Mothers also completed questionnaires at child age 60 months. Results highlight the effects of child developmental risk as a moderator of mother-child goodness of fit processes across the preschool period. There was also evidence that the goodness of fit between maternal scaffolding and child activity level at 36 months influenced both mother and child functioning at 60 months. Findings call for more precise models and expanded developmental perspectives to fully capture the transactional and dynamic nature of goodness of fit.
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Developmental timing differences underlie armor loss across threespine stickleback populations.
Currey, Mark C; Bassham, Susan; Perry, Stephen; Cresko, William A
2017-11-01
Comparing ontogenetic patterns within a well-described evolutionary context aids in inferring mechanisms of change, including heterochronies or deletion of developmental pathways. Because selection acts on phenotypes throughout ontogeny, any within-taxon developmental variation has implications for evolvability. We compare ontogenetic order and timing of locomotion and defensive traits in three populations of threespine stickleback that have evolutionarily divergent adult forms. This analysis adds to the growing understanding of developmental genetic mechanisms of adaptive change in this evolutionary model species by delineating when chondrogenesis and osteogenesis in two derived populations begin to deviate from the developmental pattern in their immediate ancestors. We found that differences in adult defensive morphologies arise through abolished or delayed initiation of these traits rather than via an overall heterochronic shift, that intra-population ontogenetic variation is increased for some derived traits, and that altered armor developmental timing differentiates the derived populations from each other despite parallels in adult lateral plate armor phenotypes. We found that changes in ossified elements of the pelvic armor are linked to delayed and incomplete development of an early-forming pelvic cartilage, and that this disruption likely presages the variable pelvic vestiges documented in many derived populations. © 2017 Wiley Periodicals, Inc.
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Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman, Andrea L; Duncan, Wallace C; Smith, Ann C M
2006-05-01
The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance. A striking neurobehavioral pattern of stereotypies, hyperactivity, polyembolokoilamania, onychotillomania, maladaptive and self-injurious and aggressive behavior is observed with increasing age. The diagnosis of Smith-Magenis syndrome is based upon the clinical recognition of a constellation of physical, developmental, and behavioral features in combination with a sleep disorder characterized by inverted circadian rhythm of melatonin secretion. Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable with advancing age. Infants are described as looking "cherubic" with a Down syndrome-like appearance, whereas with age the facial appearance is that of relative prognathism. Early diagnosis requires awareness of the often subtle clinical and neurobehavioral phenotype of the infant period. Speech delay with or without hearing loss is common. Most children are diagnosed in mid-childhood when the features of the disorder are most recognizable and striking. While improvements in cytogenetic analysis help to bring cases to clinical recognition at an earlier age, this review seeks to increase clinical awareness about Smith-Magenis syndrome by presenting the salient features observed at different ages including descriptions of the neurologic and behavioral features. Detailed review of the circadian rhythm disturbance unique to Smith-Magenis syndrome is presented. Suggestions for management of the behavioral and sleep difficulties are discussed in the context of the authors' personal experience in the setting of an ongoing Smith-Magenis syndrome natural history study.
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Developmental pathways in infants from 4 to 24 months.
Valla, L; Birkeland, M S; Hofoss, D; Slinning, K
2017-07-01
There has been limited epidemiological research describing population-based samples regarding developmental pathways throughout infancy, and the research that exists has revealed substantial diversity. Identifying predictors for developmental pathways can inform early intervention services. The Ages and Stages Questionnaire was used to measure communication, gross motor, fine motor, problem-solving and personal-social skills longitudinally in a large, population-based sample of 1555 infants recruited from well-baby clinics in five municipalities in southeast Norway. We conducted latent class analyses to identify common pathways within the five developmental areas. Our results indicated that most classes of infants showed generally positive and stable normative developmental pathways. However, for communication and gross motor areas, more heterogeneity was found. For gross motor development, a class of 10% followed a U-shaped curve. A class of 8% had a declining communication pathway and did not reach the level of the high stable communication class at 24 months. Low gestational age, low Apgar score, male sex, maternal depression symptoms, non-Scandinavian maternal ethnicity and high maternal education significantly predict less beneficial communication pathways. The results suggest that infants with low gestational age, low Apgar score, male sex and a mother with depression symptoms or non-Scandinavian ethnicity may be at risk of developing less beneficial developmental pathways, especially within the communication area. Targeting these infants for surveillance and support might be protective against delayed development in several areas during a critical window of development. © 2017 John Wiley & Sons Ltd.
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Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Min Ko, Jung; Cho, Jae So; Yoo, Yongjin; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; Lee, Hye-Ran; Cho, Tae-Joon
2017-02-01
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.
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Winfield, Naomi R; Barker, Nicola J; Turner, Esme R; Quin, Gemma L
2014-10-19
Children with severe global developmental delay (SGDD) have significant intellectual disability and severe motor impairment; they are extremely limited in their functional movement and are dependent upon others for all activities of daily living. SGDD does not directly cause lung dysfunction, but the combination of immobility, weakness, skeletal deformity and parenchymal damage from aspiration can lead to significant prevalence of respiratory illness. Respiratory pathology is a significant cause of morbidity and mortality for children with SGDD; it can result in frequent hospital admissions and impacts upon quality of life. Although many treatment approaches are available, there currently exists no comprehensive review of the literature to inform best practice. A broad range of treatment options exist; to focus the scope of this review and allow in-depth analysis, we have excluded pharmaceutical interventions. To assess the effects of non-pharmaceutical treatment modalities for the management of respiratory morbidity in children with severe global developmental delay. We conducted comprehensive searches of the following databases from inception to November 2013: the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, the Allied and Complementary Medicine Database (AMED) and the Cumulative Index to Nursing and Allied Health Literature (CINAHL). We searched the Web of Science and clinical trials registries for grey literature and for planned, ongoing and unpublished trials. We checked the reference lists of all primary included studies for additional relevant references. Randomised controlled trials, controlled trials and cohort studies of children up to 18 years of age with a diagnosis of severe neurological impairment and respiratory morbidity were included. Studies of airways clearance techniques, suction, assisted coughing, non-invasive ventilation, tracheostomy and postural management were eligible for inclusion. We used standard methodological procedures as expected by The Cochrane Collaboration. As the result of heterogeneity, we could not perform meta-analysis. We have therefore presented our results using a narrative approach. Fifteen studies were included in the review. Studies included children with a range of severe neurological impairments in differing settings, for example, home and critical care. Several different treatment modalities were assessed, and a wide range of outcome measures were used. Most studies used a non-randomised design and included small sample groups. Only four randomised controlled trials were identified. Non-randomised design, lack of information about how participants were selected and who completed outcome measures and incomplete reporting led to high or unclear risk of bias in many studies. Results from low-quality studies suggest that use of non-invasive ventilation, mechanically assisted coughing, high-frequency chest wall oscillation (HFCWO), positive expiratory pressure and supportive seating may confer potential benefits. No serious adverse effects were reported for ventilatory support or airway clearance interventions other than one incident in a clinically unstable child following mechanically assisted coughing. Night-time positioning equipment and spinal bracing were shown to have a potentially negative effect for some participants. However, these findings must be considered as tentative and require testing in future randomised trials. This review found no high-quality evidence for any single intervention for the management of respiratory morbidity in children with severe global developmental delay. Our search yielded data on a wide range of interventions of interest. Significant differences in study design and in outcome measures precluded the possibility of meta-analysis. No conclusions on efficacy or safety of interventions for respiratory morbidity in children with severe global developmental delay can be made based upon the findings of this review.A co-ordinated approach to future research is vital to ensure that high-quality evidence becomes available to guide treatment for this vulnerable patient group.
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Gupta, Arti; Kalaivani, Mani; Gupta, Sanjeev Kumar; Rai, Sanjay K.; Nongkynrih, Baridalyne
2016-01-01
Background: Nearly 14% of children worldwide do not reach their developmental potential in early childhood. The early identification of delays in achieving milestones is critical. The World Health Organization (WHO) has developed normal age ranges for the achievement of motor milestones by healthy children. This study aimed to assess the gross motor developmental achievements and associated factors among children in rural India. Materials and Methods: A cross-sectional study was conducted with rural children in North India. A pretested questionnaire was used to collect the data. The median age at the time of the highest observed milestone was calculated and compared with the WHO windows of achievement. Results: Overall, 221 children aged 4–18 months were included in the study. The median age of motor development exhibited a 0.1–2.1-month delay compared to the WHO median age of motor milestone achievement. The prevalence of the gross motor milestone achievements for each of the six milestones ranged from 91.6% to 98.4%. Developmental delay was observed in 6.3% of the children. After adjusting for different variables, children with birth order of second or more were found to be significantly associated with the timely achievement of gross motor milestones. Conclusion: The apparently healthy children of the rural area of Haryana achieved gross motor milestones with some delay with respect to the WHO windows of achievement. Although the median value of this delay was low, awareness campaigns should be implemented to promote timely identification of children with development delays. PMID:27843845
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ERIC Educational Resources Information Center
Marcovitch, Sharon; And Others
Parental stress and supports, child temperament and mother-child interaction in free play were assessed in three groups of families of delayed preschoolers: 40 children with Down's Syndrome, 29 children with neurological impairments, and 40 children with delayed development of unknown etiology. In addition to a number of instruments completed by…
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Delayed cerebral development in twins with congenital hyperthyroidism.
Kopelman, A E
1983-09-01
Twins had congenital hyperthyroidism and delayed cerebral development manifested as ventriculomegaly, increased space in the interhemispheric fissure, and an exaggerated gyral pattern on cranial computed tomographic scans. At 3 1/2 years of age, both children had delayed development. Fetal and neonatal hyperthyroidism may interfere with normal brain growth and maturation with both neuranatomic and developmental sequelae.
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Optimism and positive and negative feelings in parents of young children with developmental delay.
Kurtz-Nelson, E; McIntyre, L L
2017-07-01
Parents' positive and negative feelings about their young children influence both parenting behaviour and child problem behaviour. Research has not previously examined factors that contribute to positive and negative feelings in parents of young children with developmental delay (DD). The present study sought to examine whether optimism, a known protective factor for parents of children with DD, was predictive of positive and negative feelings for these parents. Data were collected from 119 parents of preschool-aged children with developmental delay. Two separate hierarchical linear regression analyses were conducted to determine if optimism significantly predicted positive feelings and negative feelings and whether optimism moderated relations between parenting stress and parent feelings. Increased optimism was found to predict increased positive feelings and decreased negative feelings after controlling for child problem behaviour and parenting stress. In addition, optimism was found to moderate the relation between parenting stress and positive feelings. Results suggest that optimism may impact how parents perceive their children with DD. Future research should examine how positive and negative feelings impact positive parenting behaviour and the trajectory of problem behaviour specifically for children with DD. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.
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Shox2-deficiency leads to dysplasia and ankylosis of the temporomandibular joint in Mice
Gu, Shuping; Wei, Na; Yu, Ling; Fei, Jian; Chen, YiPing
2010-01-01
The temporomandibular joint (TMJ) is a unique synovial joint whose development differs from the formation of other synovial joints. Mutations have been associated with the developmental defects of the TMJ only in a few genes. In this study, we report the expression of the homeobox gene Shox2 in the cranial neural crest derived mesenchymal cells of the maxilla-mandibular junction and later in the progenitor cells and undifferentiated chondrocytes of the condyle as well as the glenoid fossa of the developing TMJ. A conditional inactivation of Shox2 in the cranial neural crest-derived cells causes developmental abnormalities in the TMJ, including dysplasia of the condyle and glenoid fossa. The articulating disc forms but fuses with the fibrous layers of the condyle and glenoid fossa, clinically known as TMJ ankylosis. Histological examination indicates a delay in development in the mutant TMJ, accompanied by a significantly reduced rate of cell proliferation. In situ hybridization further demonstrates an altered expression of several key osteogenic genes and a delayed expression of the osteogenic differentiation markers. Shox2 appears to regulate the expression of osteogenic genes and is essential for the development and function of the TMJ. The Shox2 conditional mutant thus provides a unique animal model of TMJ ankylosis. PMID:18514492
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D'Angelo, Carla Sustek; Kohl, Ilana; Varela, Monica Castro; de Castro, Cláudia Irene Emílio; Kim, Chong Ae; Bertola, Débora Romeo; Lourenço, Charles Marques; Perez, Ana Beatriz Alvarez; Koiffmann, Celia Priszkulnik
2013-03-01
Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader-Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array-based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions. Copyright © 2013 Wiley Periodicals, Inc.
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Malerba, Kirsten Hawkins; Tecklin, Jan Stephen
2013-06-01
Children often are referred for physical therapy with the diagnosis of hypotonia when the definitive cause of hypotonia is unknown. The purpose of this case report is to describe the clinical decision-making process using the Hypothesis-Oriented Algorithm for Clinicians II (HOAC II) for an infant with hypotonia and gross motor delay. The patient was a 5-month-old infant who had been evaluated by a neurologist and then referred for physical therapy by his pediatrician. Physical therapist evaluation results and clinical observations of marked hypotonia, significant gross motor delay, tongue fasciculations, feeding difficulties, and respiratory abnormalities prompted necessary referral to specialists. Recognition of developmental, neurologic, and respiratory abnormalities facilitated clinical decision making for determining the appropriate physical therapy plan of care. During the brief episode of physical therapy care, the patient was referred to a feeding specialist and diagnosed with pharyngeal-phase dysphasia and mild aspiration. Continued global weakness, signs and symptoms of type 1 spinal muscular atrophy (SMA), and concerns about increased work of breathing and respiratory compromise were discussed with the referring physician. After inconclusive laboratory testing for metabolic etiologies of hypotonia, a genetics consult was recommended and confirmed the diagnosis of type 1 SMA at 9 months of age. Physical therapists use clinical decision making to determine whether to treat patients or to refer them to other medical professionals. Accurate and timely referral to appropriate specialists may assist families in obtaining a diagnosis for their child and guide necessary interventions. In the case of type 1 SMA, early diagnosis may affect outcomes and survival rate in this pediatric population.
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Wang, Rongyue; Lei, Tingying; Fu, Fang; Li, Ru; Jing, Xiangyi; Yang, Xin; Liu, Juan; Li, Dongzhi; Liao, Can
2018-03-26
Chromosome microarray analysis (CMA) is currently the first-tier diagnostic assay for the evaluation of developmental delay (DD) and intellectual disability (ID) with unknown etiology. Here, we present our clinical experience in implementing whole-genome high-resolution single nucleotide polymorphism (SNP) arrays to investigate 489 patients with unexplained DD/ID in whom standard karyotyping analyses showed normal karyotypes. This study aimed to assess the usefulness of CMA for clinical diagnostic testing in the Chinese population. A total of 489 children were classified into three groups: isolated DD/ID (n = 358), DD/ID with epilepsy (n = 49), and DD/ID with other structural anomalies (n = 82). We identified 126 cases (25.8%, 126/489) of pathogenic copy number variants (CNVs) by CMA, including 89 (24.9%, 89/358) with isolated DD/ID, 13 (26.5%, 13/49) with DD/ID with epilepsy, and 24 (29.3%, 24/82) with DD/ID with other structural anomalies. Among the 126 cases of pathogenic CNVs, 79 cases were identified as microdeletion/microduplication syndromes, among which 76 cases were classified as common syndromes, and 3 cases were classified as rare syndromes, including 15q24 microdeletion syndrome, Xq28 microduplication syndrome and Lowe syndrome. Additionally, there were forty-seven cases of non-syndromic pathogenic CNVs. The ABAT, FTSJ1, DYNC1H1, and SETBP1 genes were identified as DD/ID candidate genes. Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD/ID in South China. Copyright © 2018. Published by Elsevier B.V.
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Flore, Leigh Anne; Milunsky, Jeff M
2012-12-01
Global developmental delay (GDD) and intellectual disability (ID) occur in up to 3% of the general population and are even more commonly encountered in the setting of the pediatric neurology clinic. New advances in technology and in the understanding of genetic disorders have led to changes in the diagnostic approach to a child with unexplained GDD or ID. Chromosomal microarray has become a first-line test for evaluation of patients in this population and has both significantly increased diagnostic yield and introduced new challenges in the interpretation of copy number variants of uncertain significance. The G-banded karyotype is now frequently utilized as an adjunct to the microarray rather than as a first-line test in individuals with GDD or ID. Fragile X DNA testing continues to be recommended in the initial evaluation of the child with GDD or ID. The presence or absence of certain cardinal features (such as microcephaly or macrocephaly, seizures, autism, abnormal neurologic examination, and facial dysmorphism) can be utilized to direct single-gene molecular testing. The availability of next-generation and massively parallel sequencing technologies has enabled the use of genetic testing panels, in which dozens of genes associated with GDD or ID may be rapidly analyzed. Most recently, the clinical availability of whole-genome and whole-exome sequencing has opened new possibilities for the evaluation of individuals with GDD or ID who have previously eluded a genetic diagnosis. Consultation with a medical geneticist is recommended when progressing beyond first-tier analyses to most efficiently prioritize testing. Copyright © 2012 Elsevier Inc. All rights reserved.
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Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome.
Adhikari, Anna; Copping, Nycole A; Onaga, Beth; Pride, Michael C; Coulson, Rochelle L; Yang, Mu; Yasui, Dag H; LaSalle, Janine M; Silverman, Jill L
2018-05-23
Prader-Willi syndrome (PWS) is an imprinted neurodevelopmental disease caused by a loss of paternal genes on chromosome 15q11-q13. It is characterized by cognitive impairments, developmental delay, sleep abnormalities, and hyperphagia often leading to obesity. Clinical research has shown that a lack of expression of SNORD116, a paternally expressed imprinted gene cluster that encodes multiple copies of a small nucleolar RNA (snoRNA) in both humans and mice, is most likely responsible for many PWS symptoms seen in humans. The majority of previous research using PWS preclinical models focused on characterization of the hyperphagic and metabolic phenotypes. However, a crucial understudied clinical phenotype is cognitive impairments and thus we investigated the learning and memory abilities using a model of PWS, with a heterozygous deletion in Snord116. We utilized the novel object recognition task, which doesn't require external motivation, or exhaustive swim training. Automated findings were further confirmed with manual scoring by a highly trained blinded investigator. We discovered deficits in Snord116+/- mutant mice in the novel object recognition, location memory and tone cue fear conditioning assays when compared to age-, sex- matched, littermate control Snord116+/+ mice. Further, we confirmed that despite physical neo-natal developmental delays, Snord116+/- mice had normal exploratory and motor abilities. These results show that the Snord116+/- deletion murine model is a valuable preclinical model for investigating learning and memory impairments in individuals with PWS without common confounding phenotypes. Copyright © 2018 Elsevier Inc. All rights reserved.
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Can We Identify Parents Who Do Not Verbally Share Concerns for Their Children's Development?
Eremita, Matthew; Semancik, Eileen; Lerer, Trudy; Dworkin, Paul H
2017-04-01
We aimed to identify characteristics of parents who do not voice developmental concerns when prompted by their children's nurse and/or primary care provider (PCP), despite reporting concerns on parent-completed questionnaires. We reviewed 376 medical records of children seen for a 9-month well-child visit in an urban pediatric clinic between September 2011 and December 2012 for sociodemographic variables hypothesized to affect parents' sharing of developmental concerns: the child's birth order and gender; parents' education level, employment, relationship status, and primary language; and family size and racial/ethnic background. The target population was parents who reported concerns on the Parents' Evaluation of Developmental Status (PEDS), a routinely administered, parent-completed screening questionnaire. We subdivided parents who reported concerns on the PEDS (N = 86) based on whether they voiced developmental concerns when prompted by their children's nurse and/or PCP. Two-sided Fisher's exact tests and logistic regression evaluated the relationship between sociodemographic variables and parents' voicing of developmental concerns. Only parent education approached significance, as parents with less than a high school education (
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Neuroanatomy of Individual Differences in Language in Adult Males with Autism
Lai, Meng-Chuan; Lombardo, Michael V.; Ecker, Christine; Chakrabarti, Bhismadev; Suckling, John; Bullmore, Edward T.; Happé, Francesca; Murphy, Declan G. M.; Baron-Cohen, Simon
2015-01-01
One potential source of heterogeneity within autism spectrum conditions (ASC) is language development and ability. In 80 high-functioning male adults with ASC, we tested if variations in developmental and current structural language are associated with current neuroanatomy. Groups with and without language delay differed behaviorally in early social reciprocity, current language, but not current autistic features. Language delay was associated with larger total gray matter (GM) volume, smaller relative volume at bilateral insula, ventral basal ganglia, and right superior, middle, and polar temporal structures, and larger relative volume at pons and medulla oblongata in adulthood. Despite this heterogeneity, those with and without language delay showed significant commonality in morphometric features when contrasted with matched neurotypical individuals (n = 57). In ASC, better current language was associated with increased GM volume in bilateral temporal pole, superior temporal regions, dorsolateral fronto-parietal and cerebellar structures, and increased white matter volume in distributed frontal and insular regions. Furthermore, current language–neuroanatomy correlation patterns were similar across subgroups with or without language delay. High-functioning adult males with ASC show neuroanatomical variations associated with both developmental and current language characteristics. This underscores the importance of including both developmental and current language as specifiers for ASC, to help clarify heterogeneity. PMID:25249409
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Colvin, Caroline Wingo; Abdullatif, Hussein
2013-01-01
Puberty is the period of biologic transition from childhood to adulthood. The changes that occur at this time are related to the increasing concentrations of sex steroid hormones. In females, most pubertal changes are caused by estrogen stimulation that results from the onset of central puberty. Significant development occurs in the organs of the female reproductive system and results in anatomic changes that characterize reproductive maturity. Adrenal and ovarian androgens also increase during puberty, affecting change that includes the promotion of certain secondary sex characteristics. The ability to recognize normal pubertal anatomy and distinguish between estrogen and androgen effects is important in the ability to diagnose and treat disorders of sex development, precocious puberty, pubertal delay, and menstrual irregularities in children and adolescents. An understanding of this developmental process can also help clinicians identify and treat reproductive pathology in adults and across all female life stages. Copyright © 2012 Wiley-Liss, Inc.
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Holmes, Christopher; Kim-Spoon, Jungmeen
2016-03-01
This review explores the relation of religiousness and spirituality with externalizing psychopathology in adolescence given the heightened externalizing psychopathology during this developmental period. Utilizing a developmental psychopathology framework, previous literature is reviewed focusing on the diversity of pathways from religiousness and spirituality to externalizing psychopathology at multiple levels of analysis. Moreover, the pathways considered include both intraindividual factors (e.g., self-control, monitoring, delay discounting and time orientation, and neurobiological regulatory systems) and ecological factors (e.g., intergenerational transmission, parent-child relationships, and community relationships). These pathways are explored in light of theoretical viewpoints including social control theory, divine interaction theory, and the religious ecology model. Limitations of extant work are examined, including measurement and design issues, exploration of potential negative effects of religiousness and spirituality, and bias toward Western religions. Finally, future directions of research and clinical implications are discussed.
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Holmes, Christopher; Kim-Spoon, Jungmeen
2015-01-01
This review explores the relation of religiousness and spirituality with externalizing psychopathology in adolescence given the heightened externalizing psychopathology during this developmental period. Utilizing a developmental psychopathology framework, previous literature is reviewed focusing on the diversity of pathways from religiousness and spirituality to externalizing psychopathology at multiple levels of analysis. Moreover, the pathways considered include both intraindividual factors (e.g., self-control, monitoring, delay discounting and time orientation, and neurobiological regulatory systems) and ecological factors (e.g., intergenerational transmission, parent-child relationships, and community relationships). These pathways are explored in light of theoretical viewpoints including social control theory, divine interaction theory, and the religious ecology model. Limitations of extant work are examined, including measurement and design issues, exploration of potential negative effects of religiousness and spirituality, and bias towards Western religions. Finally, future directions of research and clinical implications are discussed. PMID:26662624
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Nair, M K C; Nair, G S Harikumaran; George, Babu; Suma, N; Neethu, C; Leena, M L; Russell, Paul Swamidhas Sudhakar
2013-11-01
To develop and validate a simple screening tool for identifying developmental delay among children of 0-6 y of age in the community. The 51-items of Trivandrum Development Screening Chart for children of 0-6 y [TDSC (0-6 y)], were carefully prepared from the norms in various existing developmental charts/scales, by experts keeping in mind the face validity and content validity. The criterion validity was assessed in a community sample of 1,183 children of 0-6 y with a mean age of 35.38 mo (SD of 19.25) including 597 (50.46%) boys and 586 (49.54%) girls. TDSC (0-6 y) was validated against Denver Developmental Screening Test (DDST) as the 'Reference Standard'. When one item delay in TDSC (0-6 y) was considered as 'TDSC delay' (test positive), the sensitivity and specificity of TDSC (0-6 y) was found to be 84.62% (95% CI: 71.92-93.12) and 90.8% (95% CI: 88.97-92.43) respectively with a Negative Predictive Value of 99.23% (95% CI: 98.48-99.67) and LR (negative) of 0.17(95% CI: 0.09-0.32). The test-retest and inter-rater reliability [an interclass correlation (ICC) of 0.77 for test-retest and ICC of 0.97 for inter-rater] were good and acceptable. TDSC (0-6 y) is a simple, reliable and valid screening tool for use in the community to identify children between 0 and 6 y with developmental delay, enabling early intervention practices.
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Marder, Wendy; Ganser, Martha A; Romero, Vivian; Hyzy, Margaret A; Gordon, Caroline; McCune, WJ; Somers, Emily C
2012-01-01
Objective Azathioprine (AZA) is recognized among immunosuppressive medications as relatively safe during pregnancy for women with systemic lupus erythematosus (SLE) requiring aggressive treatment. This pilot study aimed to determine whether SLE therapy during pregnancy was associated with developmental delays in offspring. Methods This cohort study included SLE patients with at least one live birth post-diagnosis. Medical histories were obtained via interviews and chart review. Multiple logistic regression was used to examine associations between SLE therapy during pregnancy and maternal report of special educational (SE) requirements (as proxy for developmental delays) among offspring. Propensity scoring (incorporating corticosteroid use, lupus flare, and lupus nephritis) was used to account for disease severity. Results Of 60 eligible offspring from 38 mothers, 15 required SE services, the most common indication for which was speech delay. 7 of the 13 (54%) children with in utero AZA exposure utilized SE services versus 8 of 47 (17%) non-exposed (p<0.05). After adjustment for pregnancy duration, small for gestational age, propensity score, maternal education and antiphospholipid antibody syndrome, AZA was significantly associated with SE utilization occurring from age 2 onward (OR 6.6, 95% CI 1.0, 43.3), and bordered significance for utilization at any age or age <2 years. Conclusions AZA exposure during SLE pregnancy was independently associated with increased SE utilization in offspring, after controlling for confounders. Further research is indicated to fully characterize developmental outcomes among offspring with in utero AZA exposure. Vigilance and early interventions for suspected developmental delays among exposed offspring may be warranted. PMID:23139238
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Matsuura, N; Konishi, J
1990-06-01
To define the difference in prognosis and the clinical features of transient neonatal hypothyroidism in infants born to mothers with chronic thyroiditis, we conducted a nationwide study of this condition. Sixteen mothers with chronic thyroiditis and twenty-three of their offspring with transient hypothyroidism were registered and reported in this paper. Five (group A) of twenty-two live infants showed physical, mental and/or psychomotor developmental delay (IQ below 80). No significant difference between TSH-binding inhibitor immunoglobulin (TBII) or thyroid-stimulation blocking antibody (TSBAb) activities in groups A and B (normal development) were noted. Moreover, there was no significant difference in thyroid function in the newborn period, ages at the start of thyroid medication or the dose and duration of treatment in the two groups. A striking difference observed between the two groups was the thyroid function of their mothers during pregnancy. In group A, four mothers were hypothyroid during pregnancy, and another mother discontinued thyroid medication in the last trimester and her baby was most delayed at the start thyroid medication. On the other hand, the mothers of only two of seventeen live cases in group B had mild hypothyroidism during pregnancy. There were two sets of siblings whose mother received inadequate treatment during the first pregnancy and adequate treatment during the second pregnancy. The psychomotor, physical and mental developmental delay were observed in their first babies. These findings suggested that maternal thyroid function during pregnancy might be an important factor in the prognosis of infants born to mothers with chronic thyroiditis.
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Michelotti, Janine; Charman, Tony; Slonims, Vicky; Baird, Gillian
2002-12-01
Eighteen children (13 males, five females) who had severe developmental language delay/disorder and some features of autism (although insufficient in severity and combination to meet ICD-10 diagnostic criteria for childhood autism) at preschool age (Time 1; mean age 4 years 4 months) were followed up 4 years later (Time 2; mean age 8 years 7 months). At the initial assessment the diagnostic dilemma was how much the social communication impairments and behavioural problems were secondary to the language problem and how much they constituted a genuine case of a pervasive developmental disorder. It was anticipated that at follow-up some children would continue to show social impairments but that in others social impairments would have receded as language competence improved. Follow-up assessments included the Wechsler Intelligence Scale for Children, the Clinical Evaluation of Language Fundamentals, the Children's Communication Checklist, and the Social Communication Questionnaire. At follow-up, five children had continuing language disorder and were considered to fulfil diagnostic criteria for childhood autism, four children had continuing language disorder and met criteria for atypical autism, and nine met criteria for atypical autism but had somewhat recovered language skills. Thus, even in the subgroup of children whose language ability had improved the features of autism had not dissipated. Severity of social communication impairments and repetitive behaviours at Time 1, rated retrospectively from case notes, were associated with severity of autism symptoms and pragmatic competence at Time 2. The findings are discussed in relation to the unclear boundary between autism spectrum disorders and language delay/disorder.
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Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D M
2014-07-01
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus. Patients with GAMT deficiency exhibit the most severe clinical spectrum. Myopathy is a distinct feature in AGAT deficiency. Guanidinoacetate (GAA) is the immediate product in the creatine biosynthetic pathway. Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. An elevated ratio of urinary creatine /creatinine excretion serves as a diagnostic marker in males with SLC6A8 deficiency. Treatment strategies include oral supplementation of high-dose creatine-monohydrate for all three CDD. Guanidinoacetate-reducing strategies (high-dose ornithine, arginine-restricted diet) are additionally employed in GAMT deficiency. Supplementation of substrates for intracerebral creatine synthesis (arginine, glycine) has been used additionally to treat SLC6A8 deficiency. Early recognition and treatment improves outcomes. Normal outcomes in neonatally ascertained siblings from index families with AGAT and GAMT deficiency suggest a potential benefit of newborn screening for these disorders. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
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Thomaidis, Loretta; Zantopoulos, Georgios Zacharias; Fouzas, Sotirios; Mantagou, Lito; Bakoula, Chryssa; Konstantopoulos, Andreas
2014-02-12
Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. From March 2008 to February 2010, 142 children with developmental quotient (DQ) <70 and without definitive etiologic diagnosis, were included. Prenatal and perinatal risk factors known to be associated with disordered neonatal brain function were identified. Participants underwent a thorough investigation, an individualized habilitation plan was recommended, and the children were followed-up regularly for a period of 2 < years. The effect of prenatal and perinatal risk factors on the severity and outcome of GDD was assessed by regression analysis. The mean age at enrolment was 31 ± 12 < months, and the mean DQ 52.2 ± 11.4. Prematurity and intrauterine growth restriction (IUGR) were found to be independently associated with lower DQ values. The mean DQ after the 2-year follow-up was 62.5 ± 12.7, and the DQ difference from the enrollment 10.4 ± 8.9 (median 10; range-10 to 42). DQ improvement (defined as a DQ difference?≥?median) was noted in 52.8% of the children. IUGR, low socio-economic status, and poor compliance to habilitation plan were found to be independently associated with poorer developmental outcomes. Prematurity and IUGR were found to be significantly and independently related to the severity of GDD in cases without definitive etiologic yield. Poorer 2-year developmental outcome was associated with IUGR, low socioeconomic status and non compliance to habilitation plan. Prematurity was a significant determinant of the outcome only in association with the above mentioned factors.
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Positive Parenting Practices, Health Disparities, and Developmental Progress.
Shah, Reshma; Sobotka, Sarah A; Chen, Yi-Fan; Msall, Michael E
2015-08-01
To describe interactive activities between parents and young children in a nationally representative sample. We hypothesized that the frequency of participation in interactive activities would be different across economic strata and would be associated with developmental delay. Children 4 to 36 months of age were identified by using The National Survey of Children's Health 2011-2012. Interactive caregiving practices were reported by poverty status. Developmental concerns were derived from caregiver responses and scoring of the Parents Evaluation of Developmental Status. Multivariable logistic regressions with weighting were used to explore the effect of interactive practices on risk for developmental delay across poverty levels. Covariates including age, gender, insurance type, maternal education, parenting stress, and ethnicity were adjusted in the models. In our sample (n = 12,642), caregivers with the lowest income versus highest income reported lower participation in reading (33% vs 64%; P < .0001), singing or telling stories (52% vs 77%, P < .0001), and taking their child on an outing (13% vs 22%, P < .0001). Less frequent participation in interactive activities during the week were associated with increased risk of developmental delay among low-income families (Reading odds ratio [OR] 1.57, 95% confidence interval [CI] 1.15-2.13; Singing songs/Telling Stories OR 1.66, 95% CI 1.15-2.40; Outings OR 1.48, 95% CI 1.11-1.97). Despite evidence emphasizing the protective effects of supportive parenting practices on early child development, our work demonstrates significant disparities in parenting practices that promote early child development between economically advantaged and disadvantaged parents. Innovative population-level strategies that enrich parenting practices for vulnerable children in early childhood are needed. Copyright © 2015 by the American Academy of Pediatrics.
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ERIC Educational Resources Information Center
Humphreys, Betsy P.
2013-01-01
Universal developmental screening during pediatric well child care detects early delays in development and is a critical gateway to early intervention for young children at risk for Autism Spectrum Disorders (ASD). Developmental screening practices are highly variable, and few studies have examined screening utilization for children at risk for…
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Cheong, Jeanie L; Doyle, Lex W; Burnett, Alice C; Lee, Katherine J; Walsh, Jennifer M; Potter, Cody R; Treyvaud, Karli; Thompson, Deanne K; Olsen, Joy E; Anderson, Peter J; Spittle, Alicia J
2017-04-03
Moderate and late preterm (MLPT) births comprise most preterm infants. Therefore, long-term developmental concerns in this population potentially have a large public health influence. While there are increasing reports of developmental problems in MLPT children, detail is lacking on the precise domains that are affected. To compare neurodevelopment and social-emotional development between MLPT infants and term-born control infants at age 2 years. This investigation was a prospective longitudinal cohort study at a single tertiary hospital. Participants were MLPT infants (32-36 weeks' completed gestation) and healthy full-term controls (≥37 weeks' gestation) recruited at birth. During a 3-year period between December 7, 2009, and November 7, 2012, MLPT infants were recruited at birth from the neonatal unit and postnatal wards of the Royal Women's Hospital, Melbourne, Australia. The term control recruitment extended to March 26, 2014. The dates of the data developmental assessments were February 23, 2012, to April 8, 2016. Moderate and late preterm birth. Cerebral palsy, blindness, and deafness assessed by a pediatrician; cognitive, language, and motor development assessed using the Bayley Scales of Infant Development-Third Edition (developmental delay was defined as less than -1 SD relative to the mean in controls in any domain of the scales); and social-emotional and behavioral problems assessed by a parent questionnaire (Infant Toddler Social Emotional Assessment). Outcomes were compared between birth groups using linear and logistic regression, adjusted for social risk. In total, 198 MLPT infants (98.5% of 201 recruited) and 183 term-born controls (91.0% of 201 recruited) were assessed at 2 years' corrected age. Compared with controls, MLPT children had worse cognitive, language, and motor development at age 2 years, with adjusted composite score mean differences of -5.3 (95% CI, -8.2 to -2.4) for cognitive development, -11.4 (95% CI, -15.3 to -7.5) for language development, and -7.3 (95% CI, -10.6 to -3.9) for motor development. The odds of developmental delay were higher in the MLPT group compared with controls, with adjusted odds ratios of 1.8 (95% CI, 1.1-3.0) for cognitive delay, 3.1 (95% CI, 1.8-5.2) for language delay, and 2.4 (95% CI, 1.3-4.5) for motor delay. Overall social-emotional competence was worse in MLPT children compared with controls (t statistic mean difference, -3.6 (95% CI, -5.8 to -1.4), but other behavioral domains were similar. The odds of being at risk for social-emotional competence were 3.9 (95% CI, 1.4-10.9) for MLPT children compared with controls. Moderate and late preterm children exhibited developmental delay compared with their term-born peers, most marked in the language domain. This knowledge of developmental needs in MLPT infants will assist in targeting surveillance and intervention.
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Nerve-muscle interactions during flight muscle development in Drosophila
NASA Technical Reports Server (NTRS)
Fernandes, J. J.; Keshishian, H.
1998-01-01
During Drosophila pupal metamorphosis, the motoneurons and muscles differentiate synchronously, providing an opportunity for extensive intercellular regulation during synapse formation. We examined the existence of such interactions by developmentally delaying or permanently eliminating synaptic partners during the formation of indirect flight muscles. When we experimentally delayed muscle development, we found that although adult-specific primary motoneuron branching still occurred, the higher order (synaptic) branching was suspended until the delayed muscle fibers reached a favourable developmental state. In reciprocal experiments we found that denervation caused a decrease in the myoblast pool. Furthermore, the formation of certain muscle fibers (dorsoventral muscles) was specifically blocked. Exceptions were the adult muscles that use larval muscle fibers as myoblast fusion targets (dorsal longitudinal muscles). However, when these muscles were experimentally compelled to develop without their larval precursors, they showed an absolute dependence on the motoneurons for their formation. These data show that the size of the myoblast pool and early events in fiber formation depend on the presence of the nerve, and that, conversely, peripheral arbor development and synaptogenesis is closely synchronized with the developmental state of the muscle.
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Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent
2016-01-01
Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407
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Hemmat, Morteza; Yang, Xiaojing; Chan, Patricia; McGough, Robert A; Ross, Leslie; Mahon, Loretta W; Anguiano, Arturo L; Boris, Wang T; Elnaggar, Mohamed M; Wang, Jia-Chi J; Strom, Charles M; Boyar, Fatih Z
2014-01-01
Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.
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Watanabe, Katsumi; Yoshimura, Yuko; Kikuchi, Mitsuru; Minabe, Yoshio; Aihara, Kazuyuki
2017-01-01
Autism spectrum disorder (ASD) is a developmental disorder that involves developmental delays. It has been hypothesized that aberrant neural connectivity in ASD may cause atypical brain network development. Brain graphs not only describe the differences in brain networks between clinical and control groups, but also provide information about network development within each group. In the present study, graph indices of brain networks were estimated in children with ASD and in typically developing (TD) children using magnetoencephalography performed while the children viewed a cartoon video. We examined brain graphs from a developmental point of view, and compared the networks between children with ASD and TD children. Network development patterns (NDPs) were assessed by examining the association between the graph indices and the raw scores on the achievement scale or the age of the children. The ASD and TD groups exhibited different NDPs at both network and nodal levels. In the left frontal areas, the nodal degree and efficiency of the ASD group were negatively correlated with the achievement scores. Reduced network connections were observed in the temporal and posterior areas of TD children. These results suggested that the atypical network developmental trajectory in children with ASD is associated with the development score rather than age. PMID:28886147
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Morgan, Lindee; Wetherby, Amy M; Barber, Angie
2008-08-01
The purpose of this study was to examine group differences and relationships with later developmental level and autism symptoms using a new clinical tool developed to measure repetitive and stereotyped movements (RSM) in young children. Videotaped behavior samples using the Communication and Symbolic Behavior Scales Developmental Profile (CSBS; Wetherby & Prizant, 2002) were coded for children with autism spectrum disorders (ASD; n = 50), developmental delays without ASD (DD; n = 25), and typical development (TD; n = 50) between 18 and 24 months of age. Children with ASD demonstrated significantly higher rate and larger inventory of RSM with objects and body during a systematic behavior sample than both the DD and TD groups. Measures of RSM were related to concurrent measures of social communication and predicted developmental outcomes and autism symptoms in the fourth year for the ASD group. None of the correlations between RSM and autism symptoms remained significant when controlling for CSBS Symbolic level. RSM with objects predicted unique variance in the severity of autism symptoms in the fourth year beyond that predicted by social communication measures alone. This study provides support for the diagnostic significance of RSM in children under 24 months of age and documents the utility of this RSM measurement tool as a companion to the CSBS.
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Fish endpoints measured in early life stage toxicity tests are often used as representative of larval amphibian sensitivity in Ecological Risk Assessment (ERA). This application potentially overlooks the impact of developmental delays on amphibian metamorphosis, and thereby red...
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ERIC Educational Resources Information Center
Ayoob, Keith-Thomas; And Others
1994-01-01
Thirteen children (ages 3.1 to 5.2 years) referred for developmental delay and excessive eating (without obesity) were evaluated. Commonalities included being in foster care, prenatal drug exposure, and abnormally withdrawn and/or aggressive behavior. (Author/DB)
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ERIC Educational Resources Information Center
Brandt, Julie A. Ackerlund; Weinkauf, Sara; Zeug, Nicole; Klatt, Kevin P.
2016-01-01
Previous research has shown that various prompting procedures are effective in teaching skills to children and adults with developmental disabilities. Simultaneous prompting includes proving a prompt immediately following an instruction; whereas constant time-delay procedures include a set time delay (i.e., 5 s or 10 s) prior to delivering a…
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ERIC Educational Resources Information Center
Gibbard, Deborah; Smith, Clare
2016-01-01
Primary language delay remains one of the most prevalent developmental delays in early childhood, particularly in disadvantaged areas. Previous research has established language difficulties and social disadvantage being particular risk factors for adverse outcomes later in life. To help prevent low educational achievement and poorer outcomes,…
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Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
Leme, D E S; Souza, D H; Mercado, G; Pastene, E; Dias, A; Moretti-Ferreira, D
2013-09-04
Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH. We concluded that all three systems could be used for the clinical diagnosis of WBS, but they all gave a low percentage of false-positive (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be associated with FISH testing.
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A New Interactive Screening Test for Autism Spectrum Disorders in Toddlers.
Choueiri, Roula; Wagner, Sheldon
2015-08-01
To develop a clinically valid interactive level 2 screening assessment for autism spectrum disorders (ASD) in toddlers that is brief, easily administered, and scored by clinicians. We describe the development, training, standardization, and validation of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) with ASD-specific diagnostic instruments. The RITA-T can be administered and scored in 10 minutes. We studied the validity of the RITA-T to distinguish between toddlers with ASD from toddlers with developmental delay (DD)/non-ASD in an early childhood clinic. We also evaluated the test's performance in toddlers with no developmental concerns. We identified a cutoff score based on sensitivity, specificity, and positive predictive value of the RITA-T that best differentiates between ASD and DD/non-ASD. A total of 61 toddlers were enrolled. RITA-T scores were correlated with ASD-specific diagnostic tools (r = 0.79; P < .01) and ASD clinical diagnoses (r = 0.77; P < .01). Mean scores were significantly different in subjects with ASD, those with DD/non-ASD, and those with no developmental concerns (20.8 vs 13 vs 10.6, respectively; P < .0001). At a cutoff score of >14 , the RITA-T had a sensitivity of 1.00, specificity of 0.84, and positive predictive value of 0.88 for identifying ASD risk in a high-risk group. The RITA-T is a promising new level 2 interactive screening tool for improving the early identification of ASD in toddlers in general pediatric and early intervention settings and allowing access to treatment. Copyright © 2015 Elsevier Inc. All rights reserved.
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Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence
2016-01-01
Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or "Giftedness" = Total IQ > 2 SD ), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a "bottom-up" procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed.
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Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence
2016-01-01
Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or “Giftedness” = Total IQ > 2 SD), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a “bottom-up” procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed. PMID:27812341
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Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.
Gipson, Tanjala T; Gerner, Gwendolyn; Srivastava, Siddharth; Poretti, Andrea; Vaurio, Rebecca; Hartman, Adam; Johnston, Michael V
2014-09-01
Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers. During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy. Many risk factors have been associated with intellectual disability and/or autism in individuals with tuberous sclerosis complex; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long-term cognitive and psychiatric outcomes. Copyright © 2014 Elsevier Inc. All rights reserved.
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Hatakenaka, Yuhei; Fernell, Elisabeth; Sakaguchi, Masahiko; Ninomiya, Hitoshi; Fukunaga, Ichiro; Gillberg, Christopher
2016-01-01
Early identification of autism spectrum disorder, intellectual developmental disorder, attention-deficit/hyperactivity disorder, and other neurodevelopmental disorders/problems is crucial, yet diagnosis is often delayed for years under the often misguided "wait-and-see" paradigm. The early symptomatic syndromes eliciting neurodevelopmental clinical examinations-questionnaire (ESSENCE-Q) is a brief (12-item) screening questionnaire developed specifically for the purpose of speeding up the identification process of a wide variety of neurodevelopmental problems. The aims were to 1) estimate the reliability of the ESSENCE-Q, 2) evaluate the clinical cutoff levels suggested by the author of the ESSENCE-Q, and 3) propose optimal cutoff levels based on receiver operating characteristic analysis. The ESSENCE-Q was used for 1 year by a psychiatrist in Kochi, Japan, assessing children under the age of 6 years referred for developmental problems. The children were also clinically assessed with regard to whether or not they met criteria for a developmental disorder (diagnosis positive and diagnosis negative groups). We contrasted the results of the ESSENCE-Q and those of clinical diagnostic assessments in 130 cases. Cronbach's alpha was 0.82, sensitivity was 0.94 (95% confidence interval [CI]: [0.88, 0.98]), and specificity 0.53 (95% CI: [0.28, 0.77]), which are reasonable psychometrics for a first-step screening tool. Based on receiver operating characteristic analysis, we recommended an optimal cutoff level of yes ≥2 or maybe/a little ≥3 on the ESSENCE-Q (0.87 (95% CI: [0.79, 0.92]) sensitivity and 0.77 (95% CI: [0.50, 0.93]) specificity). The ESSENCE-Q can be a good instrument for use as a screening tool for aiding in the process of early identification of neurodevelopmental disorders in clinical settings. To establish the broader validity and reliability of the ESSENCE-Q, case-control studies and general population studies of children in different age groups are needed.
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Shaffer, Lisa G.
2005-01-01
The following are the recommendations of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee, which was convened to assist health care professionals in making decisions regarding cytogenetic diagnostic testing and counseling for mental retardation (MR) and developmental delay (DD). This document reviews available evidence concerning the value of conventional and molecular cytogenetic testing for the identification of chromosomal anomalies that play a role in the etiology of MR/DD, and, based on this evidence, specific recommendations for each method of testing are provided. PMID:16301868
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Growth and development of children with congenital heart disease.
Chen, Chi-Wen; Li, Chung-Yi; Wang, Jou-Kou
2004-08-01
Children with congenital heart disease (CHD) commonly experience delayed growth. Because growth and development are closely related, both should be considered when a child's progress is examined. This paper reports a study to evaluate and compare the growth and development of preschool children with CHD to those of normal preschool children. The heights and weights of 42 preschool children with CHD and 116 normal preschool children were compared with standard growth curves. Differences in development of personal and social skills, fine motor skills and adaptability, language, and gross motor skills were evaluated. Developmental skills were assessed using the Denver Developmental Screening Test II. A significant difference was found in both body height (P < 0.05) and weight (P < 0.05) between the two groups. More preschoolers with congenital hear disease were below the 50th percentile in height (P < 0.05) and weight (P < 0.001). Preschoolers with CHD had more suspicious interpretations than non-CHD preschoolers, specifically in the language (P < 0.01) and gross motor sections (P < 0.001). Nevertheless, there were two items in the personal-social section and one in the language section on which the children with heart disease passed in the range of 55.6-63.2%. Problems were encountered with the Denver II test because of differences in language, culture and childrearing methods between Taiwanese and Western societies. These cultural differences must be considered when the test is used to assess development. Learning about the growth and developmental differences between children with CHD and normal children may help parents of the former to detect problems associated with delayed growth and development earlier. These children and their families should have the opportunity to participate in a long-term, follow-up programme that provides information and encourages developmental progress. The results could serve as a reference for those in both clinical and community workers who provide nursing care to children with CHD.
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Muthusamy, Karthik; Sudhakar, Sniya V; Yoganathan, Sangeetha; Thomas, Maya Mary; Alexander, Mathew
2015-06-01
Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H) syndrome is a rare hypomyelination disorder with around 40 cases reported worldwide. Children with hypomyelination, hypodontia, hypogonadotropic hypogonadism syndrome present with varying degrees of developmental delay with a spastic ataxic syndrome with delayed eruption of teeth along with disruption in the eruption sequence, hypogonadotropic hypogonadism, and a fluctuating clinical course with intercurrent infections and varying periods of stability. The disorder is caused by mutations in POL3A and POL3B genes and is collectively termed as pol III-related leukodystrophies. Here we describe 2 children with hypomyelination, hypodontia, hypogonadotropic, hypogonadism syndrome and the association of multiple vertebral fusion anomalies in one of them, which has not been previously described in the literature. We conclude that the spectrum of the disorder is not limited to brain parenchyma alone and involves all the structures arising from neural ectoderm, and this needs further research. © The Author(s) 2014.
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Leigh syndrome associated with a novel mutation in the COX15 gene.
Miryounesi, Mohammad; Fardaei, Majid; Tabei, Seyed Mohammadbagher; Ghafouri-Fard, Soudeh
2016-06-01
Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with a diverse range of symptoms, such as psychomotor delay or regression, weakness, hypotonia, truncal ataxia, intention tremor as well as lactic acidosis in the blood, cerebrospinal fluid or urine. Both nuclear gene defects and mutations of the mitochondrial genome have been detected in these patients. Here we report a 7-year-old girl with hypotonia, tremor, developmental delay and psychomotor regression. However, serum lactate level as well as brain magnetic resonance imaging were normal. Mutational analysis has revealed a novel mutation in exon 4 of COX15 gene (c.415C>G) which results in p.Leu139Val. Previous studies have demonstrated that COX15 mutations are associated with typical LS as well as fatal infantile hypertrophic cardiomyopathy. Consequently, clinical manifestations of COX15 mutations may be significantly different in patients. Such information is of practical importance in genetic counseling.
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Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A
2017-06-01
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.
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Kraemer, Kenneth H.; Patronas, Nicholas J.; Schiffmann, Raphael; Brooks, Brian P.; Tamura, Deborah; DiGiovanna, John J.
2008-01-01
Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes. Three NER genes are also part of the basal transcription factor, TFIIH. Mutations in 11 NER genes have been associated with clinical diseases with at least 8 overlapping phenotypes. The clinical features of these patients have some similarities and but also have marked differences. NER is involved in protection against sunlight induced DNA damage. While XP patients have 1000-fold increase in susceptibility to skin cancer, TTD and CS patients have normal skin cancer risk. Several of the genes involved in NER also affect somatic growth and development. Some patients have short stature and immature sexual development. TTD patients have sulfur deficient brittle hair. Progressive sensorineural deafness is an early feature of XP and CS. Many of these clinical diseases are associated with developmental delay and progressive neurological degeneration. The main neuropathology of XP is a primary neuronal degeneration. In contrast, CS and TTD patients have reduced myelination of the brain. These complex neurological abnormalities are not related to sunlight exposure but may be caused by developmental defects as well as faulty repair of DNA damage to neuronal cells induced by oxidative metabolism or other endogenous processes. PMID:17276014
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Tyshchenko, N; Neuhann, T M; Gerlach, E; Hahn, G; Heisch, K; Rump, A; Schrock, E; Tinschert, S; Hackmann, K
2011-09-01
We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy. Copyright © 2011 Wiley-Liss, Inc.
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Congenital hypothyroidism and concurrent renal insufficiency in a kitten.
Lim, Chee Kin; Rosa, Chantal T; de Witt, Yolanda; Schoeman, Johan P
2014-11-14
A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality. Early recognition, diagnosis and treatment are vital as alleviation of clinical signs may depend on the cat's age at the time of diagnosis.
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Valla, Lisbeth; Wentzel-Larsen, Tore; Hofoss, Dag; Slinning, Kari
2015-12-17
Prevalence estimates on suspected developmental delays (SDD) in young infants are scarce and a necessary first step for planning an early intervention. We investigated the prevalence of SDD at 4, 6 and 12 months, in addition to associations of SDD with gender, prematurity and maternal education. This study is based on a Norwegian longitudinal sample of 1555 infants and their parents attending well-baby clinics for regular health check-ups. Moreover, parents completed the Norwegian translation of the Ages and Stages Questionnaires (ASQ) prior to the check-up, with a corrected gestational age being used to determine the time of administration for preterm infants. Scores ≤ the established cut-offs in one or more of the five development areas: communication, gross motor, fine motor, problem solving and personal-social, which defined SDD for an infant were reported. Chi-square tests were performed for associations between the selected factors and SDD. According to established Norwegian cut-off points, the overall prevalence of SDD in one or more areas was 7.0 % (10.3 % US cut-off) at 4 months, 5.7 % (12.3 % US cut-off) at 6 months and 6.1 % (10.3 % US cut-off) at 12 months. The highest prevalence of SDD was in the gross motor area at all three time points. A gestational age of < 37 weeks revealed a significant association with the communication SDD at 4 months, and with the fine motor and personal social SDD at 6 months. Gender was significantly associated with the fine motor and problem solving SDD at 4 months and personal- social SDD at 6 months: as more boys than girls were delayed. No significant associations were found between maternal education and the five developmental areas of the ASQ. Our findings indicate prevalence rates of SDD between 5.7 and 7.0 % in Norwegian infants between 4 and 12 months of age based on the Norwegian ASQ cut-off points (10.3-12.3 %, US cut-off points). During the first year of life, delay is most frequent within the gross motor area. Special attention should be paid to infants born prematurely, as well as to boys. Separate norms for boys and girls should be considered for the ASQ.
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Shevell, Michael; Majnemer, Annette; Platt, Robert W; Webster, Richard; Birnbaum, Rena
2005-10-01
Preschool children diagnosed with either global developmental delay (GDD) or developmental language impairment (DLI) were reassessed during their early school years with standardized developmental (Battelle Developmental Inventory [BDI]) and functional (Vineland Adaptive Behavior Scale [VABS]) outcome measures. Of an original cohort of 99 children with GDD and 70 children with DLI assessed and diagnosed at a mean age of 3 years 5 months (SD 1.1) and 3 years 7 months (SD 0.7) respectively, 48 children (34 [71%] males) with GDD and 43 children (36 [84%] males) with DLI were reassessed at a mean age of 7 years 4 months (SD 0.9) and 7 years 5 months (SD 0.7) respectively. The overall total mean BDI score for children with GDD was 66.4 (SD 4.3) versus 71.9 (SD 8.2) for children with DLI (p=0.002). On each subdomain of the BDI, except communication, mean scores for the GDD group were significantly lower than for the DLI group (p<0.05). Similarly, the VABS total score for the GDD group was significantly lower than for the DLI group (p<0.001). For each subdomain of the VABS, the GDD group scored significantly lower than the DLI group (p<0.001). The proportion of children falling below meaningful cut-offs on the outcome measures selected was significantly higher for those initially diagnosed with GDD. Preschool diagnosis of either GDD or DLI has later prognostic validity with regard to persisting developmental and functional deficits.
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Efficacy of the Multidisciplinary Evaluation for Preschoolers with Suspected Developmental Delays.
ERIC Educational Resources Information Center
Klein, Evelyn R.; Stull, Judith
At the Temple University Center for Research in Human Development and Education, Pennsylvania's largest independent multidisciplinary evaluation program, approximately 300 preschool aged children are evaluated annually to determine developmental performance in the areas of cognition, speech-language, gross and fine motor skills, social-emotional…
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Teaching Individuals with Developmental Delays: Basic Intervention Techniques.
ERIC Educational Resources Information Center
Lovaas, O. Ivar
This teaching manual for treatment of children with developmental disabilities is divided into seven sections that address: (1) basic concepts; (2) transition into treatment; (3) early learning concepts; (4) expressive language; (5) strategies for visual learners; (6) programmatic considerations; and (7) organizational and legal issues. Among…
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Down Syndrome = Sindrome de Down.
ERIC Educational Resources Information Center
Pueschel, S. M.; Glasgow, R. E.
Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…
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Romantic Relationship Patterns in Young Adulthood and Their Developmental Antecedents
ERIC Educational Resources Information Center
Rauer, Amy J.; Pettit, Gregory S.; Lansford, Jennifer E.; Bates, John E.; Dodge, Kenneth A.
2013-01-01
The delayed entry into marriage that characterizes modern society raises questions about young adults' romantic relationship trajectories and whether patterns found to characterize adolescent romantic relationships persist into young adulthood. The current study traced developmental transitions into and out of romantic relationships from age…
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ERIC Educational Resources Information Center
Vig, Susan; Jedrysek, Eleonora
1999-01-01
Examines issues in the differential diagnosis of autism in preschool children with significant cognitive impairment, including the use of traditional diagnostic guidelines for preschoolers with developmental delays, developmental changes in behavioral characteristics, involvement of cognitive factors in symptom expression, overlap between autism…
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ERIC Educational Resources Information Center
Abubakar, Amina; Holding, Penny; Van de Vijver, Fons J. R.; Newton, Charles; Van Baar, Anneloes
2010-01-01
Aims: To investigate markers of risk status that can be easily monitored in resource-limited settings for the identification of children in need of early developmental intervention. Methods: Eighty-five children in Kilifi, Kenya, aged between 2 and 10 months at recruitment, were involved in a 10-month follow-up. Data on developmental outcome were…
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Newland, Rebecca P.; Crnic, Keith A.
2016-01-01
Despite the compelling nature of goodness of fit, empirical support has lagged for this construct. The present study examined an interactional approach to measuring goodness of fit and prospectively explored associations with mother-child relationship quality, child behavior problems, and parenting stress across the preschool period. In addition, as goodness of fit might be particularly important for children at developmental risk, the presence of early developmental delay was considered as a moderator of goodness of fit processes. Children with (n = 110) and without (n = 137) developmental delays and their mothers were coded while interacting in the lab at child age 36 months and during naturalistic home observations at child ages 36 and 48 months. Mothers also completed questionnaires at child age 60 months. Results highlight the effects of child developmental risk as a moderator of mother-child goodness of fit processes across the preschool period. There was also evidence that the goodness of fit between maternal scaffolding and child activity level at 36 months influenced both mother and child functioning at 60 months. Findings call for more precise models and expanded developmental perspectives to fully capture the transactional and dynamic nature of goodness of fit. PMID:28943806
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A Drosophila model for fetal alcohol syndrome disorders: role for the insulin pathway
McClure, Kimberly D.; French, Rachael L.; Heberlein, Ulrike
2011-01-01
SUMMARY Prenatal exposure to ethanol in humans results in a wide range of developmental abnormalities, including growth deficiency, developmental delay, reduced brain size, permanent neurobehavioral abnormalities and fetal death. Here we describe the use of Drosophila melanogaster as a model for exploring the effects of ethanol exposure on development and behavior. We show that developmental ethanol exposure causes reduced viability, developmental delay and reduced adult body size. We find that flies reared on ethanol-containing food have smaller brains and imaginal discs, which is due to reduced cell division rather than increased apoptosis. Additionally, we show that, as in mammals, flies reared on ethanol have altered responses to ethanol vapor exposure as adults, including increased locomotor activation, resistance to the sedating effects of the drug and reduced tolerance development upon repeated ethanol exposure. We have found that the developmental and behavioral defects are largely due to the effects of ethanol on insulin signaling; specifically, a reduction in Drosophila insulin-like peptide (Dilp) and insulin receptor expression. Transgenic expression of Dilp proteins in the larval brain suppressed both the developmental and behavioral abnormalities displayed by ethanol-reared adult flies. Our results thus establish Drosophila as a useful model system to uncover the complex etiology of fetal alcohol syndrome. PMID:21303840
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Lysenko, Larisa V; Kim, Jeesun; Madamba, Francisco; Tyrtyshnaia, Anna A; Ruparelia, Aarti; Kleschevnikov, Alexander M
2018-07-01
Down syndrome (DS) is the most frequent genetic cause of developmental abnormalities leading to intellectual disability. One notable phenomenon affecting the formation of nascent neural circuits during late developmental periods is developmental switch of GABA action from depolarizing to hyperpolarizing mode. We examined properties of this switch in DS using primary cultures and acute hippocampal slices from Ts65Dn mice, a genetic model of DS. Cultures of DIV3-DIV13 Ts65Dn and control normosomic (2 N) neurons were loaded with FURA-2 AM, and GABA action was assessed using local applications. In 2 N cultures, the number of GABA-activated cells dropped from ~100% to 20% between postnatal days 3-13 (P3-P13) reflecting the switch in GABA action polarity. In Ts65Dn cultures, the timing of this switch was delayed by 2-3 days. Next, microelectrode recordings of multi-unit activity (MUA) were performed in CA3 slices during bath application of the GABA A agonist isoguvacine. MUA frequency was increased in P8-P12 and reduced in P14-P22 slices reflecting the switch of GABA action from excitatory to inhibitory mode. The timing of this switch was delayed in Ts65Dn by approximately 2 days. Finally, frequency of giant depolarizing potentials (GDPs), a form of primordial neural activity, was significantly increased in slices from Ts65Dn pups at P12 and P14. These experimental evidences show that GABA action polarity switch is delayed in Ts65Dn model of DS, and that these changes lead to a delay in maturation of nascent neural circuits. These alterations may affect properties of neural circuits in adult animals and, therefore, represent a prospective target for pharmacotherapy of cognitive impairment in DS. Copyright © 2018 Elsevier Inc. All rights reserved.
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Chambers, Nola; Stronach, Sheri T; Wetherby, Amy M
2016-05-01
Substantial development in social communication skills occurs in the first two years of life. Growth should be evident in sharing emotion and eye gaze; rate of communication, communicating for a variety of functions; using gestures, sounds and words; understanding language, and using functional and pretend actions with objects in play. A delay in these early social communication skills may be the first sign of a developmental delay in young children in nearly all categories of disabilities-including specific language impairment, autism spectrum disorder, HIV/AIDS, lack of environmental stimulation or institutionalization, and global developmental delays-and early detection of these delays is critical for enrolment in appropriate early intervention services. No standardized tests of early social communication skills exist for very young children in South Africa (SA). An existing evaluation tool that has the potential to be culturally fair for children from cultural backgrounds different to the standardization group is the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS DP). This study aimed to document the performance of a group of English-speaking SA children ranging in age from 12 to 24 months on the CSBS DP and to compare this performance with the original standardization sample. Sixty-seven English-speaking SA children from a range of cultural and linguistic backgrounds were assessed on the CSBS DP Behaviour Sample. Group scores were compared with the original standardization sample using inferential statistics. The results provide preliminary support for the suitability and validity of the face-to-face Behaviour Sample as a measure of early social communication skills in this sample of English-speaking SA children from a range of cultural groups between 12 and 24 months of age. While further research in the SA population is needed, these findings are a first step towards validating a culturally appropriate measure for early detection of social communication delays in a sample of SA toddlers. © 2015 Royal College of Speech and Language Therapists.
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Pilowsky, Tammy; Yirmiya, Nurit; Gross-Tsur, Varda; Shalev, Ruth S
2007-03-01
Neuropsychological functioning of 30 siblings of children with autism (AU-S), 28 siblings of children with mental retardation of (MR-S), and 30 siblings of children with developmental language delay (DLD-S) was compared. Two siblings, both AU-S, received diagnoses of pervasive developmental disorder (PDD). More siblings with cognitive disabilities were found in DLD-S than in AU-S. However, these differences disappeared after excluding diagnosed siblings or after accounting for family membership. In sum, despite the elevated incidence of PDD among AU-S, the neuropsychological functioning of the remaining siblings did not convey specific characteristics related to the genetic risk associated with autism, in contrast to the cognitive functioning of the DLD-S, which did reflect a genetic risk.
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Brennan, Laura; Fein, Deborah; Como, Ariel; Rathwell, Iris Carcani; Chen, Chi-Ming
2016-01-01
The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R/-A) was used to screen 2,594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty three (9.75%) screened positive; follow up on failed items were conducted by phone with 127 (50%); the remainder were lost to follow-up. Twenty-six toddlers (21%) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status – Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of autism appeared very similar. PMID:27491423
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A developmental screening tool for toddlers with multiple domains based on Rasch analysis.
Hwang, Ai-Wen; Chou, Yeh-Tai; Hsieh, Ching-Lin; Hsieh, Wu-Shiun; Liao, Hua-Fang; Wong, Alice May-Kuen
2015-01-01
Using multidomain developmental screening tools is a feasible method for pediatric health care professionals to identify children at risk of developmental problems in multiple domains simultaneously. The purpose of this study was to develop a Rasch-based tool for Multidimensional Screening in Child Development (MuSiC) for children aged 0-3 years. The MuSic was developed by constructing items bank based on three commonly used screening tools, validating with developmental status (at risk for delay or not) on five developmental domains. Parents of a convenient sample of 632 children (aged 3-35.5 months) with and without developmental delays responded to items from the three screening tools funded by health authorities in Taiwan. Item bank was determined by item fit of Rasch analysis for each of the five developmental domains (cognitive skills, language skills, gross motor skills, fine motor skills, and socioadaptive skills). Children's performance scores in logits derived in Rasch analysis were validated with developmental status for each domain using the area under receiver operating characteristic curves. MuSiC, a 75-item developmental screening tool for five domains, was derived. The diagnostic validity of all five domains was acceptable for all stages of development, except for the infant stage (≤11 months and 15 days). MuSiC can be applied simultaneously to well-child care visits as a universal screening tool for children aged 1-3 years on multiple domains. Items with sound validity for infants need to be further developed. Copyright © 2014. Published by Elsevier B.V.
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Assessment of child psychomotor development in population groups as a positive health indicator.
Lejarraga, Horacio; Kelmansky, Diana M; Passcucci, María C; Masautis, Alicia; Insua, Iván; Lejarraga, Celina; Nunes, Fernando
2016-02-01
It is necessary to use health indicators describing the conditions of all individuals in a population, not just of those who have a disease or die. To introduce a method to collect population indicators of psychomotor development in children younger than 6 years old and show its results. Data were obtained from a cross-sectional assessment regarding compliance with 13 developmental milestones (selected from the national reference) conducted in 5465 children using five surveys administered by the Matanza-Riachuelo River Basin Authority in areas of this basin where a high proportion of families with unmet basic needs live. For each survey, a logistic regression analysis was used to estimate the median age at attainment of the 13 developmental milestones. A linear regression model between the estimated age at attainment of the 13 milestones was adjusted for each survey based on the corresponding age at attainment of the national reference. Based on this model, three indicators were defined: overall developmental quotient, developmental quotient at 4 years old, and developmental trend. Results from the five surveys ranged between 0.74 and 0.85, 0.88 and 0.81, and -0.15 and -0.26 for the overall developmental quotient, developmental quotient at 4 years old, and developmental trend, respectively. A distinct developmental delay and an increasing trend in delay with age were observed. Indicators are easily interpreted and related to social indicators (unmet basic needs, etc.). Collecting the information necessary to make estimations takes little time and can be applied to population groups, but not on an individual level. Sociedad Argentina de Pediatría.
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Zhang, Cuihong; Zhao, Chunxia; Liu, Xiangyu; Wei, Qianwei; Luo, Shusheng; Guo, Sufang; Zhang, Jingxu; Wang, Xiaoli; Scherpbier, Robert W
2017-12-08
Previous studies about inequality in children's health focused more on physical health than the neurodevelopment. In this study, we aimed to evaluate the inequality in early childhood neurodevelopment in poor rural China and explore the contributions of socioeconomic factors to the inequality. Information of 2120 children aged 0 to 35 months and their households in six poor rural counties of China was collected during July - September, 2013. Age and Stages Questionnaire-Chinese version, concentration index and decomposition analysis were used to assess the neurodevelopment of early childhood, measure its inequality and evaluate the contributions of socioeconomic factors to the inequality, respectively. The prevalence of suspected developmental delay in children under 35 months of age in six poor rural counties of China was nearly 40%, with the concentration index of -0.0877. Household economic status, caregivers' depressive symptoms, learning material and family support for learning were significantly associated with children's suspected developmental delay, and explained 34.1, 14.1, 8.9 and 7.0% of the inequality in early childhood neurodevelopment, respectively. The early childhood neurodevelopment in the surveyed area is poor and unfair. Factors including household economic status, caregivers' depressive symptoms, learning material and family support for learning are significantly associated with children's suspected developmental delay and early developmental inequality. The results highlight the urgent need of monitoring child neurodevelopment in poor rural areas. Interventions targeting the caregivers' depressive symptoms, providing learning material and developmental appropriate stimulating activities may help improve early childhood neurodevelopment and reduce its inequality.
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Raab, Melinda; Dunst, Carl J; Hamby, Deborah W
2018-02-27
The purpose of the study was to isolate the sources of variations in the rates of response-contingent learning among young children with multiple disabilities and significant developmental delays randomly assigned to contrasting types of early childhood intervention. Multilevel, hierarchical linear growth curve modelling was used to analyze four different measures of child response-contingent learning where repeated child learning measures were nested within individual children (Level-1), children were nested within practitioners (Level-2), and practitioners were nested within the contrasting types of intervention (Level-3). Findings showed that sources of variations in rates of child response-contingent learning were associated almost entirely with type of intervention after the variance associated with differences in practitioners nested within groups were accounted for. Rates of child learning were greater among children whose existing behaviour were used as the building blocks for promoting child competence (asset-based practices) compared to children for whom the focus of intervention was promoting child acquisition of missing skills (needs-based practices). The methods of analysis illustrate a practical approach to clustered data analysis and the presentation of results in ways that highlight sources of variations in the rates of response-contingent learning among young children with multiple developmental disabilities and significant developmental delays. Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.
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Zeng, Huihui; Cai, Haodong; Wang, Ying; Shen, Ying
2015-04-01
We studied the growth and development of children prenatally exposed to telbivudine used to treat chronic hepatitis B virus (HBV) infection in their mothers. Maternal abnormalities during pregnancy and delivery and infant congenital anomalies, physical development status, developmental quotient (DQ), HBV vertical transmission status, and HBV vaccination outcomes of 54 infants were evaluated (2010-2013). No fetal abnormalities were observed during pregnancy or delivery. Postpartum, three infants (5.56%) had abnormalities: ankyloglossia, cutaneous hemangioma, and vaginal canal leak. Height and weight were within the normal range at birth and at 6 weeks, but were higher than the reference at 12 months (p<0.05). Body mass index increased gradually with age (p<0.05). DQ scores were normal (84.81%, 229/270) in 37 children (68.52%), abnormal or suspicious for a developmental delay (15.19%, 41/270) in 17 children (31.48%), and indicated a developmental delay (4.07%, 11/270) in seven children (12.96%). There were no significant differences in developmental delay between children prenatally exposed to telbivudine and controls (p>0.05). HBV vertical transmission was successfully blocked in all infants. The effective HBV vaccination rate was 98.15% (53/54). The growth and development of children prenatally exposed to telbivudine was normal, indicating that telbivudine treatment during pregnancy is safe and effective. Copyright © 2015. Published by Elsevier Ltd.
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CAD mutations and uridine-responsive epileptic encephalopathy.
Koch, Johannes; Mayr, Johannes A; Alhaddad, Bader; Rauscher, Christian; Bierau, Jörgen; Kovacs-Nagy, Reka; Coene, Karlien L M; Bader, Ingrid; Holzhacker, Monika; Prokisch, Holger; Venselaar, Hanka; Wevers, Ron A; Distelmaier, Felix; Polster, Tilman; Leiz, Steffen; Betzler, Cornelia; Strom, Tim M; Sperl, Wolfgang; Meitinger, Thomas; Wortmann, Saskia B; Haack, Tobias B
2017-02-01
Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis. Two died aged 4 and 5 years after a neurodegenerative disease course. Supplementation of the two surviving children with oral uridine led to immediate cessation of seizures in both. A 4-year-old female, previously in a minimally conscious state, began to communicate and walk with assistance after 9 weeks of treatment. A 3-year-old female likewise showed developmental progress. Blood smears normalized and anaemia resolved. We establish CAD as a gene confidently implicated in this neurometabolic disorder, characterized by co-occurrence of global developmental delay, dyserythropoietic anaemia and seizures. While the natural disease course can be lethal in early childhood, our findings support the efficacy of uridine supplementation, rendering CAD deficiency a treatable neurometabolic disorder and therefore a potential condition for future (genetic) newborn screening. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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ERIC Educational Resources Information Center
Naito, Mika; Suzuki, Toshiko
2011-01-01
This study investigated the development of the ability to reflect on one's personal past and future. A total of 64 4- to 6-year-olds received tasks of delayed self-recognition, source memory, delay of gratification, and a newly developed task of future-oriented action timing. Although children's performance on delayed self-recognition, source…
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ERIC Educational Resources Information Center
Daugherty, Stefanie; Grisham-Brown, Jennifer; Hemmeter, Mary Louise
2001-01-01
In the current study, a constant time delay (CTD) procedure was embedded in classroom activities and routines to teach counting to three preschool children with speech and language delays. CTD was effective in teaching numbers to all three children. One child out of two also was able to acquire non-target information. (Contains references.) (CR)
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Güngör, Serdal; Yalnizoğlu, Dilek; Turanli, Güzide; Saatçi, Işil; Erdoğan-Bakar, Emel; Topçu, Meral
2007-01-01
Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. Thorough clinical delineation of patients with MCD may provide clues for future phenotype-genotype correlation studies. We studied clinical features of patients with MCD, including developmental risk factors and family history. We evaluated 10 patients with MCD at Hacettepe University Children's Hospital, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history, and neuropsychological evaluation. Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. Parents were relatives in 31.7% of the cases; consanguinity was most common in patients with lissencephaly and other MCDs with diffuse/bilateral involvement. Initial clinical presentation was seizures in 61.4% of the cases, developmental delays in 12.9%, and microcephaly in 9.9%. Neurological evaluation revealed most severe abnormalities in patients with lissencephaly, and relatively better outcome in patients with heterotopias. Cognitive functions were better in patients with heterotopias compared to other groups. Overall, 71.3% of patients ha epilepsy. In conclusion, initial presentation and clinical course of patients with MCD are variable and seem to be correlated with the extent of cortical involvement. Epilepsy and mental retardation are the most common problems. The most severe clinical outcome was seen in patients with lissencephaly.
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NASA Astrophysics Data System (ADS)
Nakazono, Shogo; Kobori, Satoshi
The button-press task means that the subject observes a moving target and presses a button to stop it when the target enters a specified area on a computer display. Subjects perform normal task, suppressed task and delayed task. In the suppressed task, the moving target disappears at some point during the trial. In the delayed task, there is some lag time between the time of pressing button and of stopping target. In these tasks, subjects estimate the movement of the target, and press the button considering his/her own reaction time. In our previous study, we showed that cognitive and motor function was able to be evaluated by these tasks. In this study, we examined error data of children with developmental disabilities to evaluate the cognitive function, and investigated the learning processes. Moreover, we discussed the developmental stages by comparing the children with disabilities to normal control children, and we clarified the behavior characteristics of children with developmental disabilities. Asa result, it was shown that our evaluation method and system for the button-press task were effective to evaluate cognitive ability of children with developmental disabilities.
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Simple Steps for Teaching Prepositions to Students with Autism and Other Developmental Disabilities
ERIC Educational Resources Information Center
Hicks, S. Christy; Rivera, Christopher J.; Patterson, Dawn R.
2016-01-01
The acquisition of receptive and expressive language skills by students with autism and developmental disabilities (DD) is often delayed, thus making the process of communicating with others challenging. Some students develop language skills incidentally through conversations with their families and peers, but others require instruction in…
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Classical Conditioning of Profoundly Retarded, Multiply Handicapped Children.
ERIC Educational Resources Information Center
Hogg, J.; And Others
1979-01-01
Conditioning was established for the two most developmentally advanced Ss, and the intermediate pair showed different patterns of orienting response to the conditioned stimulus but no evidence of conditioning. The fifth and most developmentally delayed child did not respond to the stimuli. Journal Availability: J. B. Lippincott Co., East…
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Effectiveness of Emotion Recognition Training for Young Children with Developmental Delays
ERIC Educational Resources Information Center
Downs, Andrew; Strand, Paul
2008-01-01
Emotion recognition is a basic skill that is thought to facilitate development of social and emotional competence. There is little research available examining whether therapeutic or instructional interventions can improve the emotion recognition skill of young children with various developmental disabilities. Sixteen preschool children with…
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ERIC Educational Resources Information Center
Bagnato, Stephen J.; Elliott Stephen N., Ed.; Witt, Joseph, C., Ed.
2007-01-01
Meeting a crucial need, this book provides clear recommendations for authentic developmental assessment of children from infancy to age 6, including those with developmental delays and disabilities. It describes principles and strategies for collecting information about children's everyday activities in the home, preschool, and community, which…
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Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to eva...
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A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012
ERIC Educational Resources Information Center
Barkovich, A. James; Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.
2012-01-01
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics…
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Serving Rural Families of Developmentally Disabled in a Cost-Effective Manner.
ERIC Educational Resources Information Center
Hedge, Russell; Johnson, Willard
Providing cost-effective services in 15 counties of Southeast Kansas, the Infant and Early Childhood Intervention Program (IECIP) teaches parents to provide daily one-to-one therapy in gross and fine perceptual motor development, speech and language development, social adjustment, and behavior management for developmentally delayed children from…
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The Abusive Environment and the Child's Adaptation.
ERIC Educational Resources Information Center
Martin, Harold P.
The biologic and developmental problems of abused children are usually thought of etiologically in relation to the physical trauma which has been suffered. Indeed, physical trauma can cause death, brain damage, developmental delays and deviations in personality development. The environment in which the abused child grows and develops is a most…
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Developmental Status and Intimacy in Adult Survivors of Childhood Cancer.
ERIC Educational Resources Information Center
Zevon, Michael A.; Corn, Barbara; Lowrie, Geoffrey; Green, Daniel M.
Whereas aggressive multimodal therapies are responsible for improved survival rates of children and adolescents diagnosed with cancer, concern has grown regarding the potential for adverse and delayed developmental effects resulting from these treatments. In light of this concern, this study assessed 207 adult survivors of childhood cancer in…
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Thinking about Feelings: Emotion Focus in the Parenting of Children with Early Developmental Risk
ERIC Educational Resources Information Center
Baker, J. K.; Crnic, K. A.
2009-01-01
Background: Children with developmental delays exhibit more difficulty with certain emotional processes than their typically developing peers, which seems to partially account for the increased risk for the development of social problems in this population. Despite considerable study with typically developing populations, research on parental…
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Sonoma Developmental Curriculum: Instructional Programs. Volume II.
ERIC Educational Resources Information Center
Adams, Patrick, Ed.; And Others
The guide presents instructional materials for teaching developmentally delayed children from birth to 6 years old. The following five instructional areas are covered (with sample activities in parentheses): gross motor (demonstrates a tonic-neck reflex, demonstrates ability to bear almost full weight, and crawls backward down three steps); fine…