Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.

PubMed

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.

Correlation Between Mothers' Depression and Developmental Delay in Infants Aged 6-18 Months.

PubMed

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.

Adaptive developmental delay in Chagas disease vectors: an evolutionary ecology approach.

PubMed

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

Parent Concern and Enrollment in Intervention Services for Young Children with Developmental Delays: 2007 National Survey of Children's Health

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…

Global developmental delay with sodium valproate-induced gingival hyperplasia.

PubMed

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.

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…

The administrative population report on children with developmental delays in Taiwan, 2003 through 2007.

PubMed

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.

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.

PubMed

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.

Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay

PubMed Central

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

Environmental Enrichment Decreases Asphyxia-Induced Neurobehavioral Developmental Delay in Neonatal Rats

PubMed Central

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

Environmental enrichment decreases asphyxia-induced neurobehavioral developmental delay in neonatal rats.

PubMed

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.

Functional Outcome of School Children With History of Global Developmental Delay.

PubMed

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.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

PubMed

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.

Could head circumference be used to screen for autism in young males with developmental delay?

PubMed

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).

Emplotting children's lives: developmental delay vs. disability.

PubMed

Landsman, Gail

2003-05-01

While it is increasingly possible to envision "perfect" babies, it is not always the case that reproduction actually proceeds according to individual will; for example, there has been no recent reduction in rates of childhood disability. Nevertheless, in most studies of new reproductive technologies, the birth of those children whom few would actively choose-"defective" or disabled infants-is presented only in hypothetical terms. This paper argues for expanding the domain of reproduction to include research on the parenting of children with disabilities. Based on a qualitative research project carried out at a hospital-based newborn follow-up program that serves as an evaluation site determining eligibility for early intervention services for infants and young children with disabilities, this paper focuses on a particular part of women's experience of acquiring new knowledge about personhood and disability, that is, on the period of time when a woman has recently had confirmed that reproduction has, in her case, gone awry. Disability in many cultures, including the United States, diminishes personhood. I suggest that American mothers' narratives, by utilizing the concept of developmental delay, can assert personhood, or rather, the potential for its future attainment; in doing so, they justify ongoing nurturance of a disabled child in spite of negative attitudes about disability. A particular case of one mother's emplotment of her child's life within a story of developmental delay, in competition with the physician's story of disability, is analyzed. The paper concludes with reflections on how stories of developmental delay told by mothers just encountering a diagnosis of disability may differ from the stories told by those who have experienced mothering a disabled child over time, and on the implications of these differences for the cultural construction of personhood in the United States.

Father's role in parent training for children with developmental delay.

PubMed

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

DNA Damage Analysis in Children with Non-syndromic Developmental Delay by Comet Assay.

PubMed

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.

Quantifying non-recurring delay on New York City's arterial highways.

DOT National Transportation Integrated Search

2008-12-01

This research project was undertaken for NYSDOT to provide a better understanding of the impacts of traffic incidents/accident s on traffic delays on New York Citys Arterial Highways, and to better quantify and predict non-recurring traffic delay ...

The social context of parenting 3-year-old children with developmental delay in the UK.

PubMed

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.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

PubMed

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.

Developmental delay in moderately preterm-born children with low socioeconomic status: risks multiply.

PubMed

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.

Etiologic yield of subspecialists' evaluation of young children with global developmental delay.

PubMed

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.

Child Care Providers' Competence and Confidence in Referring Children at Risk for Developmental Delays

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…

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…

Pre-school children with and without developmental delay: behaviour problems and parenting stress over time.

PubMed

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.

Association of Arsenic Methylation Capacity with Developmental Delays and Health Status in Children: A Prospective Case-Control Trial

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.

Developmental delay in the Amazon: The social determinants and prevalence among rural communities in Peru

PubMed Central

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

Developmental delay in the Amazon: The social determinants and prevalence among rural communities in Peru.

PubMed

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

Oral Health Characteristics and Dental Rehabilitation of Children with Global Developmental Delay.

PubMed

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.

Maternal nationality and developmental delays in young children: Analysis of the data from the national registry in Taiwan.

PubMed

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.

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...

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...

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...

Developmental and functional outcomes in children with global developmental delay or developmental language impairment.

PubMed

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.

Severe developmental delay and multiple strawberry naevi: a new syndrome?

PubMed Central

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

The differences in clinical aspect between specific language impairment and global developmental delay.

PubMed

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

Limited access to special education services for school-aged children with developmental delay.

PubMed

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.

Cochlear implant outcomes in children with motor developmental delay.

PubMed

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.

Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan

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

Discrimination Acquisition in Children with Developmental Disabilities under Immediate and Delayed Reinforcement

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…

Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.

PubMed

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

The effectiveness of parent participation in occupational therapy for children with developmental delay

PubMed Central

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

Why wait? Three mechanisms selecting for environment-dependent developmental delays.

PubMed

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

Parent Pathways: Recognition and Responses to Developmental Delays in Young Children: A Mixed-Methods Exploratory Study

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…

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…

Measuring functional developmental delay in infants and young children: prevalence rates from the NHIS-D.

PubMed

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.

A Direct Comparison of Self-Injurious and Stereotyped Motor Behavior Between Preschool-Aged Children With and Without Developmental Delays

PubMed Central

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

A Mobile Early Stimulation Program to Support Children with Developmental Delays in Brazil.

PubMed

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.

Developmental delays and dental caries in low-income preschoolers in the USA: a pilot cross-sectional study and preliminary explanatory model

PubMed Central

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

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…

Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan.

PubMed

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.

Barriers to Success in Parent Training for Young Children with Developmental Delay: The Role of Cumulative Risk

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…

A Direct Comparison of Self-Injurious and Stereotyped Motor Behavior Between Preschool-Aged Children With and Without Developmental Delays.

PubMed

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.

Self-Recognition in Young Children Using Delayed versus Live Feedback: Evidence of a Developmental Asynchrony.

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…

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…

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

PubMed

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.

Facilitating relational framing in children and individuals with developmental delay using the relational completion procedure.

PubMed

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.

Exposure of children with developmental delay to social determinants of poor health: cross-sectional case record review study.

PubMed

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.

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…

DISCRIMINATION ACQUISITION IN CHILDREN WITH DEVELOPMENTAL DISABILITIES UNDER IMMEDIATE AND DELAYED REINFORCEMENT

PubMed Central

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

The Usefulness of M-B CDI-K Short Form as Screening Test in Children With Language Developmental Delay.

PubMed

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.

High prevalence of developmental delay among children under three years of age in poverty-stricken areas of China.

PubMed

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.

Homozygous variegate porphyria presenting with developmental and language delay in childhood.

PubMed

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.

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.…

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…

Trajectories of Developmental Functioning among Children of Adolescent Mothers: Factors Associated with Risk for Delay

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…

Constructing, Quantifying, and Validating an Adverse Outcome Pathway for Vascular Developmental Toxicity

EPA Science Inventory

Constructing, Quantifying, and Validating an Adverse Outcome Pathway for Vascular Developmental Toxicity The adverse outcome pathway (AOP) for embryonic vascular disruption1 leading to a range of adverse prenatal outcomes was recently entered into the AOP wiki and accepted as par...

Child health and parental stress in school-age children with a preschool diagnosis of developmental delay.

PubMed

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.

Significant Sleep Dysregulation in a Toddler With Developmental Delay.

PubMed

Stein, Martin T; Owens, Judith; Abbott, Myles

Derrick's parents made an appointment with a new pediatrician for a second opinion about disordered sleep. Now 22-months old, he was evaluated at 18 months of age for developmental delay when he was found to have "a regulatory disorder associated with delays in language and motor development, hypotonia and significant sleep problems." The parents are now most concerned about his sleeping pattern. Prolonged sleep onset and frequent night awaking occur each night since 6-months of age. These problems are more severe in the past few months when he awakes screaming and cannot be settled. The awakening episodes occur 2 to 4 times each night when "he screams and thrashes his body for up to an hour." Daytime tantrums increased. After the parents read a book about sleep in young children, they provided a calm atmosphere at bedtime including a dark room and singing a quiet lullaby. When these changes did not alter sleep, they purchased a vibrating mattress which was also unsuccessful.Derrick was born full term after an uncomplicated prenatal and perinatal course. He sat at 10 months, crawled at 12 months, and walked at 18 months. He currently drinks from a sippy cup and he can use a utensil to eat. He has few words saying only "no" and "mama" in the past month. Imitation of some words occurred recently. He has responded to simple directions in the past 2 months. Derrick passed the newborn audiology screen. He does not have difficulty swallowing and he does not drool. He plays with many different toys and he plays in parallel with his older brother who also experienced delays in motor and language development. His brother is now doing very well in school. There is no family history of cognitive delay, seizure disorder, cerebral palsy, early developmental delay (other than the brother) or a significant sleep problem. PHYSICAL EXAMINATION:: head circumference, length and weight (75th percentile). He had mild generalized hypotonia, mild weakness, 2+ symmetrical deep tendon

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…

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…

A Descriptive Study of Hyperlexia in a Clinically Referred Sample of Children with Developmental Delays.

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…

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

PubMed

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.

Global developmental delay and mental retardation--a pediatric perspective.

PubMed

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.

Gender and Geographic Differences in Developmental Delays among Young Children: Analysis of the Data from the National Registry in Taiwan

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…

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…

[Diagnostic evaluation of the developmental level in children identified at risk of delay through the Child Development Evaluation Test].

PubMed

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.

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…

Social Routines and Language Play: Developing Communication Responses in Developmentally Delayed Blind Children.

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)

Genetics and the investigation of developmental delay/intellectual disability.

PubMed

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.

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.

Peripheral Innervation in Children with Global Developmental Delay: Biomarker for Risk for Self-Injurious Behavior?

PubMed Central

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

Peripheral Innervation in Children With Global Developmental Delay: Biomarker for Risk for Self-Injurious Behavior?

PubMed

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.

Quantifying incident-induced travel delays on freeways using traffic sensor data : phase II

DOT National Transportation Integrated Search

2010-12-01

Traffic incidents cause approximately 50 percent of freeway congestion in metropolitan areas, resulting in extra travel time and fuel cost. Quantifying incident-induced delay (IID) will help people better understand the real costs of incidents, maxim...

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…

Hyperresponsive Sensory Patterns in Young Children with Autism, Developmental Delay, and Typical Development

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…

Establishing Auditory-Tactile-Visual Equivalence Classes in Children with Autism and Developmental Delays

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…

Motor Skill Interventions to Improve Fundamental Movement Skills of Preschoolers with Developmental Delay

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…

Emotion Discourse, Social Cognition, and Social Skills in Children with and without Developmental Delays

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)…

Optimism and positive and negative feelings in parents of young children with developmental delay.

PubMed

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.

Factors Influencing Institutional-Based Pediatric Rehabilitation Services among Caregivers of Children with Developmental Delay in Southwestern Rajasthan.

PubMed

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.

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…

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

PubMed Central

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

Neonatal isolation delays the developmental decline of long-term depression in the CA1 region of rat hippocampus.

PubMed

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.

Introduction to Sexuality Education for Individuals Who Are Deaf-Blind and Significantly Developmentally Delayed.

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)…

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

PubMed

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.

Global Perspective on Early Diagnosis and Intervention for Children with Developmental Delays and Disabilities

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,…

The Administrative Population Report on Children with Developmental Delays in Taiwan, 2003 through 2007

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…

The Efficacy of Arabic Version of the Developmental Assessment of Young Children Second Edition (DAYC-2) Scale in Detecting Developmental Delay among Jordanian Children Aged Birth to 71 Months

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…

Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.

PubMed

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.

Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance.

PubMed

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.

Movement Exploration as a Technique for Teaching Pre-Swimming Skills to Students with Developmental Delays.

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…

Breastfeeding and developmental delay: findings from the millennium cohort study.

PubMed

Sacker, Amanda; Quigley, Maria A; Kelly, Yvonne J

2006-09-01

We investigated whether the duration and exclusivity of breastfeeding affects the likelihood of gross and fine motor delay in infants and examined the effect of factors that might explain any observed differences. The study sample included all term singleton infants who weighed > 2500 g at birth and were not placed in a special care infant unit and whose mothers participated in the first survey of the Millennium Cohort Study. Missing data reduced the sample to 14660 (94%) with complete data. Almost half (47%) of the infants initially were exclusively breastfed, but only 3.5% of these infants were still being fed exclusively on breast milk after 4 months of age, and 34% of infants were not breastfed at all; 9% of the infants were identified with delays in gross motor coordination and 6% with fine motor coordination delays at age 9 months. The proportion of infants who mastered the developmental milestones increased with duration and exclusivity of breastfeeding. Infants who had never been breastfed were 50% more likely to have gross motor coordination delays than infants who had been breastfed exclusively for at least 4 months (10.7% vs 7.3%). Any breast milk also was positively related to development: infants who had never been breastfed were 30% more likely to have gross motor delays than infants who were given some breast milk for up to 2 months (10.7% vs 8.4%). The odds ratios for gross motor delay were not attenuated after adjustment for biological, socioeconomic, or psychosocial factors. Infants who were never breastfed had at least a 40% greater likelihood of fine motor delay than infants who were given breast milk for a prolonged period. Our results suggest that the protective effect of breastfeeding on the attainment of gross motor milestones is attributable to some component(s) of breast milk or feature of breastfeeding and is not simply a product of advantaged social position, education, or parenting style, because control for these factors did not

The Impact of Short-Term Video Games on Performance among Children with Developmental Delays: A Randomized Controlled Trial

PubMed Central

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

The Impact of Short-Term Video Games on Performance among Children with Developmental Delays: A Randomized Controlled Trial.

PubMed

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.

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

PubMed

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.

Implementing Visually Cued Imitation Training with Children with Autism Spectrum Disorders and Developmental Delays

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…

Motivational Climate, Motor-Skill Development, and Perceived Competence: Two Studies of Developmentally Delayed Kindergarten Children

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…

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PubMed

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.

Smart Toys Designed for Detecting Developmental Delays

PubMed Central

Rivera, Diego; García, Antonio; Alarcos, Bernardo; Velasco, Juan R.; Ortega, José Eugenio; Martínez-Yelmo, Isaías

2016-01-01

In this paper, we describe the design considerations and implementation of a smart toy system, a technology for supporting the automatic recording and analysis for detecting developmental delays recognition when children play using the smart toy. To achieve this goal, we take advantage of the current commercial sensor features (reliability, low consumption, easy integration, etc.) to develop a series of sensor-based low-cost devices. Specifically, our prototype system consists of a tower of cubes augmented with wireless sensing capabilities and a mobile computing platform that collect the information sent from the cubes allowing the later analysis by childhood development professionals in order to verify a normal behaviour or to detect a potential disorder. This paper presents the requirements of the toy and discusses our choices in toy design, technology used, selected sensors, process to gather data from the sensors and generate information that will help in the decision-making and communication of the information to the collector system. In addition, we also describe the play activities the system supports. PMID:27879626

Smart Toys Designed for Detecting Developmental Delays.

PubMed

Rivera, Diego; García, Antonio; Alarcos, Bernardo; Velasco, Juan R; Ortega, José Eugenio; Martínez-Yelmo, Isaías

2016-11-20

In this paper, we describe the design considerations and implementation of a smart toy system, a technology for supporting the automatic recording and analysis for detecting developmental delays recognition when children play using the smart toy. To achieve this goal, we take advantage of the current commercial sensor features (reliability, low consumption, easy integration, etc.) to develop a series of sensor-based low-cost devices. Specifically, our prototype system consists of a tower of cubes augmented with wireless sensing capabilities and a mobile computing platform that collect the information sent from the cubes allowing the later analysis by childhood development professionals in order to verify a normal behaviour or to detect a potential disorder. This paper presents the requirements of the toy and discusses our choices in toy design, technology used, selected sensors, process to gather data from the sensors and generate information that will help in the decision-making and communication of the information to the collector system. In addition, we also describe the play activities the system supports.

Symbolic play of preschoolers with severe communication impairments with autism and other developmental delays: more similarities than differences.

PubMed

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.

Symbolic Play of Preschoolers with Severe Communication Impairments with Autism and Other Developmental Delays: More Similarities than Differences

PubMed Central

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

Marital Satisfaction, Parental Stress, and Child Behavior Problems among Parents of Young Children with Developmental Delays

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…

Responsive Interaction Interventions for Children with or at Risk for Developmental Delays: A Research Synthesis

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…

The Role of Maternal Depression in Accessing Early Intervention Services for Children with Developmental Delay

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…

Multilevel linear modelling of the response-contingent learning of young children with significant developmental delays.

PubMed

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.

Parent Training for Children With or at Risk for Developmental Delay: The Role of Parental Homework Completion

PubMed Central

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

Awake craniotomy in a developmentally delayed blind man with cognitive deficits.

PubMed

Burbridge, Mark; Raazi, Mateen

2013-04-01

To describe the complex perioperative considerations and anesthetic management of a cognitively delayed blind adult male who underwent awake craniotomy to remove a left anterior temporal lobe epileptic focus. A 28-yr-old left-handed blind cognitively delayed man was scheduled for awake craniotomy to resect a left anterior temporal lobe epileptic focus due to intractable epilepsy despite multiple medications. His medical history was also significant for retinopathy of prematurity that rendered him legally blind in both eyes and an intracerebral hemorrhage shortly after birth that resulted in a chronic brain injury and developmental delay. His cognitive capacity was comparable with that of an eight year old. Since patient cooperation was the primary concern during the awake electrocorticography phase of surgery, careful assessment of the patient's ability to tolerate the procedure was undertaken. There was extensive planning between surgeons and anesthesiologists, and a patient-specific pharmacological strategy was devised to facilitate surgery. The operation proceeded without complication, the patient has remained seizure-free since the procedure, and his quality of life has improved dramatically. This case shows that careful patient assessment, effective interdisciplinary communication, and a carefully tailored anesthetic strategy can facilitate an awake craniotomy in a potentially uncooperative adult patient with diminished mental capacity and sensory deficits.

Short-term family-centered workshop for children with developmental delays enhances family functioning and satisfaction: A prospective clinical trial.

PubMed

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.

Spatial mapping and quantification of developmental branching morphogenesis.

PubMed

Short, Kieran; Hodson, Mark; Smyth, Ian

2013-01-15

Branching morphogenesis is a fundamental developmental mechanism that shapes the formation of many organs. The complex three-dimensional shapes derived by this process reflect equally complex genetic interactions between branching epithelia and their surrounding mesenchyme. Despite the importance of this process to normal adult organ function, analysis of branching has been stymied by the absence of a bespoke method to quantify accurately the complex spatial datasets that describe it. As a consequence, although many developmentally important genes are proposed to influence branching morphogenesis, we have no way of objectively assessing their individual contributions to this process. We report the development of a method for accurately quantifying many aspects of branching morphogenesis and we demonstrate its application to the study of organ development. As proof of principle we have employed this approach to analyse the developing mouse lung and kidney, describing the spatial characteristics of the branching ureteric bud and pulmonary epithelia. To demonstrate further its capacity to profile unrecognised genetic contributions to organ development, we examine Tgfb2 mutant kidneys, identifying elements of both developmental delay and specific spatial dysmorphology caused by haplo-insufficiency for this gene. This technical advance provides a crucial resource that will enable rigorous characterisation of the genetic and environmental factors that regulate this essential and evolutionarily conserved developmental mechanism.

Three Positive Parenting Practices and Their Correlation with Risk of Childhood Developmental, Social, or Behavioral Delays: An Analysis of the National Survey of Children's Health.

PubMed

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.

Three Positive Parenting Practices and Their Correlation with Risk of Childhood Developmental, Social, or Behavioral Delays: An Analysis of the National Survey of Children's Health

PubMed Central

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

A novel X-linked disorder with developmental delay and autistic features.

PubMed

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.

A Case-Controlled Investigation of Tactile Reactivity in Young Children with and without Global Developmental Delay

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…

Early augmented language intervention for children with developmental delays: potential secondary motor outcomes.

PubMed

Whitmore, Ani S; Romski, Mary Ann; Sevcik, Rose A

2014-09-01

This exploratory study examined the potential secondary outcome of an early augmented language intervention that incorporates speech-generating devices (SGD) on motor skill use for children with developmental delays. The data presented are from a longitudinal study by Romski and colleagues. Toddlers in the augmented language interventions were either required (Augmented Communication-Output; AC-O) or not required (Augmented Communication-Input; AC-I) to use the SGD to produce an augmented word. Three standardized assessments and five event-based coding schemes measured the participants' language abilities and motor skills. Toddlers in the AC-O intervention used more developmentally appropriate motor movements and became more accurate when using the SGD to communicate than toddlers in the AC-I intervention. AAC strategies, interventionist/parent support, motor learning opportunities, and physical feedback may all contribute to this secondary benefit of AAC interventions that use devices.

Parent Training for Children With or at Risk for Developmental Delay: The Role of Parental Homework Completion.

PubMed

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.

Developmental delay and emotion dysregulation: Predicting parent-child conflict across early to middle childhood.

PubMed

Marquis, Willa A; Noroña, Amanda N; Baker, Bruce L

2017-04-01

Cumulative risk research has increased understanding of how multiple risk factors impact various socioemotional and interpersonal outcomes across the life span. However, little is known about risk factors for parent-child conflict early in development, where identifying predictors of change could be highly salient for intervention. Given their established association with parent-child conflict, child developmental delay (DD) and emotion dysregulation were examined as predictors of change in conflict across early to middle childhood (ages 3 to 7 years). Participants (n = 211) were part of a longitudinal study examining the development of psychopathology in children with or without DD. Level of parent-child conflict was derived from naturalistic home observations, whereas child dysregulation was measured using an adapted CBCL-Emotion Dysregulation Index. PROCESS was used to examine the conditional interactive effects of delay status (typically developing, DD) and dysregulation on change in conflict from child ages 3 to 5 and 5 to 7 years. Across both of these timeframes, parent-child conflict increased only for families of children with both DD and high dysregulation, providing support for an interactive risk model of parent-child conflict. Findings are considered in the context of developmental transitions, and implications for intervention are discussed. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Developmental delay and emotion dysregulation: Predicting parent-child conflict across early to middle childhood

PubMed Central

Marquis, Willa A.; Noroña, Amanda N.; Baker, Bruce L.

2016-01-01

Cumulative risk research has increased understanding of how multiple risk factors impact various socioemotional and interpersonal outcomes across the life span. However, little is known about risk factors for parent-child conflict early in development, where identifying predictors of change could be highly salient for intervention. Given their established association with parent-child conflict, child developmental delay (DD) and emotion dysregulation were examined as predictors of change in conflict across early to middle childhood (ages 3 to 7 years). Participants (n=211) were part of a longitudinal study examining the development of psychopathology in children with or without DD. Level of parent-child conflict was derived from naturalistic home observations, while child dysregulation was measured using an adapted CBCL-Emotion Dysregulation Index. PROCESS was used to examine the conditional interactive effects of delay status (typically developing, DD) and dysregulation on change in conflict from child ages 3 to 5 and 5 to 7 years. Across both of these timeframes, parent-child conflict increased only for families of children with both DD and high dysregulation, providing support for an interactive risk model of parent-child conflict. Findings are considered in the context of developmental transitions, and implications for intervention are discussed. PMID:28054804

A Classroom Collaborative Strategy Designed To Improve Oral Motor Skill Deficits in Developmentally Delayed Pre-Kindergarten Students.

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…

A 20 Year Review of Punishment and Alternative Methods to Treat Problem Behaviors in Developmentally Delayed Persons.

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,…

Early Effects of Responsivity Education/Prelinguistic Milieu Teaching for Children with Developmental Delays and Their Parents

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…

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

PubMed Central

Mari, Francesca; Hermanns, Pia; Giovannucci-Uzielli, Maria L; Galluzzi, Fiorella; Scott, Daryl; Lee, Brendan; Renieri, Alessandra; Unger, Sheila; Zabel, Bernhard; Superti-Furga, Andrea

2009-01-01

In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had growth retardation and developmental delay. We now report a smaller 12q14.4 microdeletion in a boy with severe pre and postnatal growth failure, and mild developmental delay; the patient was small at birth and presented with poor feeding and failure to thrive during the first 2 years of life, similar to the phenotype of primordial dwarfism or severe Silver-Russell syndrome (SRS). The 12q14 deletion did not include LEMD3, and no signs of osteopoikilosis were observed on skeletal radiographs. Among the deleted genes, HMGA2 is of particular interest in relationship to the aberrant somatic growth in our patient, as HMGA2 variants have been linked to stature variations in the general population and loss of function of Hmga2 in the mouse results in the pygmy phenotype that combines pre and postnatal growth failure, with resistance to the adipogenic effect of overfeeding. Sequencing of the remaining HMGA2 allele in our patient showed a normal sequence, suggesting that HMGA2 haploinsufficiency may be sufficient to produce the aberrant growth phenotype. We conclude that the 12q14.4 microdeletion syndrome can occur with or without deletion of LEMD3 gene; in LEMD3-intact cases, the phenotype includes primordial short stature and failure to thrive with moderate developmental delay, but osteopoikilosis is absent. Such cases will likely be diagnosed as Silver-Russell-like or as primordial dwarfism. PMID:19277063

Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study.

PubMed

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.

Review of Recent Research Using Constant Time Delay to Teach Chained Tasks to Persons with Developmental Disabilities

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…

Unraveling the "new morbidity": adolescent parenting and developmental delays.

PubMed

Borkowski, J G; Whitman, T L; Passino, A W; Rellinger, E A; Sommer, K; Keogh, D

1992-01-01

Baumeister's concept of the "new morbidity" pertains to the linkages between poverty, adolescent mothers, and a series of developmental delays in their children. Outlined are three possible causes of the mild mental retardation and learning disabilities that are found disproportionately among the offspring of adolescents. First, there may be a direct genetic transmission of mild mental retardation. Second, adolescent mothers are likely to have a lack of support from a social network, be unprepared cognitively and emotionally to assume responsibility for child rearing, and to look to an infant to meet their own needs. Third, the interaction of genetic and environmental deficits leads to a parenting style that deprives the child of stimulation that could potentially overcome these deficits. A secure mother-infant attachment relationship provides the foundation for the development of social, emotional, attentional, and self-regulatory processes. When this attachment relationship is insecure, as a result of the mother's unreadiness to parent, the child cannot proceed to exploration of the environment--a critical component of cognitive development. If the infant has a difficult temperament, the risk of physical and emotional abuse increases, further compromising the child's future development. By 3 years of age, many of these children are showing declines in mental functioning, delays in receptive language skills, and poor motor and social skills. Research is urged to identify events in this chain that can be targeted for early intervention.

Emotion Discourse, Social Cognition, and Social Skills in Children with and without Developmental Delays

PubMed Central

Fenning, RM; Baker, BL; Juvonen, J

2009-01-01

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/problem solving) was coded in the context of parent-child conversations about emotion, and children were interviewed separately to assess social problem solving. Mothers, fathers, and teachers reported on children’s social skills. The proposed strengths-based model partially accounted for social skills differences between typically developing children and children with delays. A multigroup analysis of the model linking emotion discourse to social skills through children’s prosocial problem solving suggested that processes operated similarly across the two groups. Implications for ecologically focused prevention and intervention are discussed. PMID:21410465

Developmental exposure to an environmental PCB mixture delays the propagation of electrical kindling from the amygdala.

PubMed

Bandara, Suren B; Sadowski, Renee N; Schantz, Susan L; Gilbert, Mary E

2017-01-01

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 evaluate the effect of developmental exposure to an environmentally relevant PCB mixture on seizure susceptibility in the rat. Female Long-Evans rats were dosed orally with 0 or 6mg/kg/day of the PCB mixture dissolved in corn oil vehicle 4 weeks prior to mating and continued through gestation and up until postnatal day (PND) 21. On PND 21, pups were weaned, and two males from each litter were randomly selected for the kindling study. As adults, the male rats were implanted bilaterally with electrodes in the basolateral amygdala. For each animal, afterdischarge (AD) thresholds in the amygdala were determined on the first day of testing followed by once daily stimulation at a standard 200μA stimulus intensity until three stage 5 generalized seizures (GS) ensued. Developmental PCB exposure did not affect the AD threshold or total cumulative AD duration, but PCB exposure did increase the latency to behavioral manifestations of seizure propagation. PCB exposed animals required significantly more stimulations to reach stage 2 seizures compared to control animals, indicating attenuated focal (amygdala) excitability. A delay in kindling progression in the amygdala stands in contrast to our previous finding of increased susceptibility to brainstem-mediated audiogenic seizures in PCB-exposed animals in response to a an intense auditory stimulus. These seemingly divergent results are not unexpected given the distinct source, type, and mechanistic underpinnings of these different seizure models. A delay in epileptogenesis following focal amygdala stimulation may reflect a decrease in neuroplasticity following developmental PCB exposure consistent with reductions in use-dependent synaptic plasticity that

Using Animation in Microsoft PowerPoint to Enhance Engagement and Learning in Young Learners with Developmental Delay

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)…

Predictors of Depressive Symptoms in Primary Caregivers of Young Children with or at Risk for Developmental Delay

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,…

Teaching Language Skills to Preschool Students with Developmental Delays and Autism Spectrum Disorder Using Language for Learning

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…

Longitudinal Assessment of Stereotypic, Proto-Injurious, and Self-Injurious Behavior Exhibited by Young Children with Developmental Delays

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…

EMOTIONAL AVAILABILITY IN EARLY MOTHER–CHILD INTERACTIONS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, OTHER PSYCHIATRIC DISORDERS, AND DEVELOPMENTAL DELAY

PubMed Central

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

Non-pharmaceutical management of respiratory morbidity in children with severe global developmental delay.

PubMed

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

Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan.

PubMed

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.

Mothers' Perceived Physical Health during Early and Middle Childhood: Relations with Child Developmental Delay and Behavior Problems

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…

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

PubMed

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.

Emotion discourse, social cognition, and social skills in children with and without developmental delays.

PubMed

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) was coded in the context of parent-child conversations about emotion, and children were interviewed separately to assess social problem solving. Mothers, fathers, and teachers reported on children's social skills. The proposed strengths-based model partially accounted for social skills differences between typically developing children and children with delays. A multigroup analysis of the model linking emotion discourse to social skills through children's prosocial problem solving suggested that processes operated similarly for the two groups. Implications for ecologically focused prevention and intervention are discussed. © 2011 The Authors. Child Development © 2011 Society for Research in Child Development, Inc.

Metabolic evaluation of children with global developmental delay.

PubMed

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.

Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report.

PubMed

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.

The effect of adding a home program to weekly institutional-based therapy for children with undefined developmental delay: a pilot randomized clinical trial.

PubMed

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.

Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.

PubMed

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

Developmental excitatory-to-inhibitory GABA polarity switch is delayed in Ts65Dn mice, a genetic model of Down syndrome.

PubMed

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.

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

PubMed Central

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

Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial.

PubMed

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.

The Positive Impact of Early Intervention for Children with Developmental Delays, Gestational Cocaine Exposure, and Co-Occurring Risk Factors

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…

The developmental switch in GABA polarity is delayed in fragile X mice.

PubMed

He, Qionger; Nomura, Toshihiro; Xu, Jian; Contractor, Anis

2014-01-08

Delays in synaptic and neuronal development in the cortex are key hallmarks of fragile X syndrome, a prevalent neurodevelopmental disorder that causes intellectual disability and sensory deficits and is the most common known cause of autism. Previous studies have demonstrated that the normal progression of plasticity and synaptic refinement during the critical period is altered in the cortex of fragile X mice. Although the disruptions in excitatory synapses are well documented in fragile X, there is less known about inhibitory neurotransmission during the critical period. GABAergic transmission plays a crucial trophic role in cortical development through its early depolarizing action. At the end of cortical critical period, response properties of GABA transform into their mature hyperpolarizing type due to developmental changes in intracellular chloride homeostasis. We found that the timing of the switch from depolarizing to hyperpolarizing GABA is delayed in the cortex of fragile X mice and there is a concurrent alteration in the expression of the neuronal chloride cotransporter NKCC1 that promotes the accumulation of intracellular chloride. Disruption of the trophic effects of GABA during cortical development could contribute to the altered trajectory of synaptic maturation in fragile X syndrome.

Early neurotrophic pharmacotherapy rescues developmental delay and Alzheimer’s-like memory deficits in the Ts65Dn mouse model of Down syndrome

PubMed Central

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

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

PubMed

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

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

PubMed

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.

Contribution of parenting to complex syntax development in preschool children with developmental delays or typical development.

PubMed

Moody, C T; Baker, B L; Blacher, J

2018-05-10

Despite studies of how parent-child interactions relate to early child language development, few have examined the continued contribution of parenting to more complex language skills through the preschool years. The current study explored how positive and negative parenting behaviours relate to growth in complex syntax learning from child age 3 to age 4 years, for children with typical development or developmental delays (DDs). Participants were children with or without DD (N = 60) participating in a longitudinal study of development. Parent-child interactions were transcribed and coded for parenting domains and child language. Multiple regression analyses were used to identify the contribution of parenting to complex syntax growth in children with typical development or DD. Analyses supported a final model, F(9,50) = 11.90, P < .001, including a significant three-way interaction between positive parenting behaviours, negative parenting behaviours and child delay status. This model explained 68.16% of the variance in children's complex syntax at age 4. Simple two-way interactions indicated differing effects of parenting variables for children with or without DD. Results have implications for understanding of complex syntax acquisition in young children, as well as implications for interventions. © 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

PubMed

Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

2016-02-01

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. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Brief Report: Effects of Pressure Vest Usage on Engagement and Problem Behaviors of a Young Child with Developmental Delays

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…

CDC Kerala 15: Developmental Evaluation Clinic (2-10 y)--developmental diagnosis and use of home intervention package.

PubMed

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.

The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts.

PubMed

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.

The effectiveness of multimedia visual perceptual training groups for the preschool children with developmental delay.

PubMed

Chen, Yi-Nan; Lin, Chin-Kai; Wei, Ta-Sen; Liu, Chi-Hsin; Wuang, Yee-Pay

2013-12-01

This study compared the effectiveness of three approaches to improving visual perception among preschool children 4-6 years old with developmental delays: multimedia visual perceptual group training, multimedia visual perceptual individual training, and paper visual perceptual group training. A control group received no special training. This study employed a pretest-posttest control group of true experimental design. A total of 64 children 4-6 years old with developmental delays were randomized into four groups: (1) multimedia visual perceptual group training (15 subjects); (2) multimedia visual perceptual individual training group (15 subjects); paper visual perceptual group training (19 subjects); and (4) a control group (15 subjects) with no visual perceptual training. Forty minute training sessions were conducted once a week for 14 weeks. The Test of Visual Perception Skills, third edition, was used to evaluate the effectiveness of the intervention. Paired-samples t-test showed significant differences pre- and post-test among the three groups, but no significant difference was found between the pre-test and post-test scores among the control group. ANOVA results showed significant differences in improvement levels among the four study groups. Scheffe post hoc test results showed significant differences between: group 1 and group 2; group 1 and group 3; group 1 and the control group; and group 2 and the control group. No significant differences were reported between group 2 and group 3, and group 3 and the control group. The results showed all three therapeutic programs produced significant differences between pretest and posttest scores. The training effect on the multimedia visual perceptual group program and the individual program was greater than the developmental effect Both the multimedia visual perceptual group training program and the multimedia visual perceptual individual training program produced significant effects on visual perception. The

Intelligence quotient discrepancy indicates levels of motor competence in preschool children at risk for developmental delays.

PubMed

Yu, Tzu-Ying; Chen, Kuan-Lin; Chou, Willy; Yang, Shu-Han; Kung, Sheng-Chun; Lee, Ya-Chen; Tung, Li-Chen

2016-01-01

This study aimed to establish 1) whether a group difference exists in the motor competence of preschool children at risk for developmental delays with intelligence quotient discrepancy (IQD; refers to difference between verbal intelligence quotient [VIQ] and performance intelligence quotient [PIQ]) and 2) whether an association exists between IQD and motor competence. Children's motor competence and IQD were determined with the motor subtests of the Comprehensive Developmental Inventory for Infants and Toddlers and Wechsler Preschool and Primary Scale of Intelligence™ - Fourth Edition. A total of 291 children were included in three groups: NON-IQD (n=213; IQD within 1 standard deviation [SD]), VIQ>PIQ (n=39; VIQ>PIQ greater than 1 SD), and PIQ>VIQ (n=39; PIQ>VIQ greater than 1 SD). The results of one-way analysis of variance indicated significant differences among the subgroups for the "Gross and fine motor" subdomains of the Comprehensive Developmental Inventory for Infants and Toddlers, especially on the subtests of "body-movement coordination" (F=3.87, P<0.05) and "visual-motor coordination" (F=6.90, P<0.05). Motor competence was significantly worse in the VIQ>PIQ group than in the NON and PIQ>VIQ groups. Significant negative correlations between IQD and most of the motor subtests (r=0.31-0.46, P<0.01) were found only in the VIQ>PIQ group. This study demonstrates that 1) IQD indicates the level of motor competence in preschoolers at risk for developmental delays and 2) IQD is negatively associated with motor competence in preschoolers with significant VIQ>PIQ discrepancy. The first finding was that preschoolers with VIQ>PIQ discrepancy greater than 1 SD performed significantly worse on motor competence than did preschoolers without significant IQD and preschoolers with PIQ>VIQ discrepancy greater than 1 SD. However, preschoolers with significant PIQ>VIQ discrepancy performed better on motor competence than did preschoolers without significant IQD, though the

Array comparative genome hybridization in patients with developmental delay: two example cases.

PubMed

Hancarova, Miroslava; Drabova, Jana; Zmitkova, Zuzana; Vlckova, Marketa; Hedvicakova, Petra; Novotna, Drahuse; Vlckova, Zdenka; Vejvalkova, Sarka; Marikova, Tatana; Sedlacek, Zdenek

2012-02-15

Developmental delay is often a predictor of mental retardation (MR) or autism, two relatively frequent developmental disorders severely affecting intellectual and social functioning. The causes of these conditions remain unknown in most patients. They have a strong genetic component, but the specific genetic defects can only be identified in a fraction of patients. Recent developments in genomics supported the establishment of the causal link between copy number variants in the genomes of some patients and their affection. One of the techniques suitable for this analysis is array comparative genome hybridization, which can be used both for detailed mapping of chromosome rearrangements identified by classical cytogenetics and for the identification of novel submicroscopic gains or losses of genetic material. We illustrate the power of this approach in two patients. Patient 1 had a cytogenetically visible deletion of chromosome X and the molecular analysis was used to specify the gene content of the deletion and the prognosis of the child. Patient 2 had a seemingly normal karyotype and the analysis revealed a small recurrent deletion of chromosome 1 likely to be responsible for his phenotype. However, the genetic dissection of MR and autism is complicated by high heterogeneity of the genetic aberrations among patients and by broad variability of phenotypic effects of individual genetic defects. Copyright © 2010 Elsevier B.V. All rights reserved.

Assessing the Effects of the "McGraw Hill Phonemic Awareness" Program with Preschool Children with Developmental Delays: A Case Study

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…

Exploring visual-graphic symbol acquisition by pre-school age children with developmental and language delays.

PubMed

Barton, Andrea; Sevcik, Rose A; Romski, Mary Ann

2006-03-01

The process of language acquisition requires an individual to organize the world through a system of symbols and referents. For children with severe intellectual disabilities and language delays, the ability to link a symbol to its referent may be a difficult task. In addition to the intervention strategy, issues such as the visual complexity and iconicity of a symbol arise when deciding what to select as a medium to teach language. This study explored the ability of four pre-school age children with developmental and language delays to acquire the meanings of Blissymbols and lexigrams using an observational experiential language intervention. In production, all four of the participants demonstrated symbol-referent relationships, while in comprehension, three of the four participants demonstrated at least emerging symbol-referent relationships. Although the number of symbols learned across participants varied, there were no differences between the learning of arbitrary and comparatively iconic symbols. The participants' comprehension skills appeared to influence their performance.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

PubMed

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.

Increasing the vocal responses of children with autism and developmental disabilities using manual sign mand training and prompt delay.

PubMed

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.

Vestibular Assessments in Children With Global Developmental Delay: An Exploratory Study.

PubMed

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.

Mindfulness-Based Stress Reduction for Parents of Young Children with Developmental Delays: Implications for Parental Mental Health and Child Behavior Problems

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;…

An examination of Anglo and Latino parenting practices: relation to behavior problems in children with or without developmental delay.

PubMed

Marquis, Willa A; Baker, Bruce L

2014-02-01

The transactional model of development has received empirical support in research on at-risk children. However, little is known about the role of ethnicity or child delay status (i.e., developmental delay [DD] or typical cognitive development [TD]) in the process of parents adapting to their child's behavior problems and special needs. We examined whether Latina (N=44) and Anglo (N=147) mothers of 3-year-old children with or without DD differed in their use of two parenting practices, maternal scaffolding and sensitivity. We also examined how the status and ethnic groups differed in child behavior problems at ages 3 and 5 and whether parenting predicted change in behavior problems over time in the ethnic and status groups. Analyses generally supported previous research on status group differences in behavior problems (DD higher) and parenting practices (TD higher). Parenting practices predicted a decrease in externalizing problems from child age 3 to 5 years among Latino families only. Child developmental status was not associated with change in behavior problems. Cultural perspectives on the transactional model of development and implications for intervention are discussed. Copyright © 2013 Elsevier Ltd. All rights reserved.

[Prospective study of ketogenic diet in treatment of children with global developmental delay].

PubMed

Zhu, Deng-Na; Li, Ping; Wang, Jun; Yuan, Jun-Ying; Zhang, Guang-Yu; Liang, Jiang-Fang; Wang, Ming-Mei; Zhao, Yun-Xia; An, Shuang; Ma, Na; Ma, Dan-Dan

2017-10-01

To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD). A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training. The children in both groups were assessed with the Gesell Developmental Scale, Chinese version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Child Behavior Checklist (CBCL), and Infants-Junior High School Students' Social Life Abilities Scale (S-M scale) before treatment and after 3, 6, and 9 months of treatment. The two groups were compared in terms of the improvements in neurobehavioral development, emotional and social behaviors, and social life ability. After 3, 6, and 9 months of treatment, the KD treatment group had significantly greater improvements in the scores of the adaptive, fine motor, and language quotients of the Gesell Developmental Scale compared with the conventional treatment group (P<0.05); the KD treatment group had significantly greater improvements in CITSEA/CBCL scores than the conventional treatment group (P<0.05). The KD treatment group had a greater improvement in the score of the S-M scale after 9 months of treatment (P<0.05). During the KD treatment, 6 children experienced diarrhea and 1 experienced mild urinary stones. KD can improve the neurobehavioral development and behavioral and emotional behaviors in children with GDD, and it has few adverse effects.

The Effects of Imitation Instruction Using a Mirror on the Emergence of Duplicative Responses by Preschool Students Diagnosed with Developmental Delays

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.…

Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

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

Improving the social-conversational skills of developmentally delayed children: an intervention study.

PubMed

Girolametto, L E

1988-05-01

Twenty mothers and their preschool-aged, developmentally delayed children participated in this parent-focused intervention study. Nine mother-child dyads received an 11-week training program that espoused a social-conversational approach, while 11 dyads served as controls. Pre- and posttest videotapes were transcribed and coded to yield measures of turn taking, as well as indexes of responsiveness, topic control, and uninvolvement. Following treatment, the mothers in the experimental group were more responsive to and less controlling of their children's behavior than the mothers in the comparison group. The children initiated more topics, were more responsive to their mother's preceding turns, and used more verbal turns and a more diverse vocabulary than the control group children. No differences in language development, as measured by a standardized test, were found. Individual maternal responses to intervention as well as implications for modifying parent training programs are discussed.

Intelligence quotient discrepancy indicates levels of motor competence in preschool children at risk for developmental delays

PubMed Central

Yu, Tzu-Ying; Chen, Kuan-Lin; Chou, Willy; Yang, Shu-Han; Kung, Sheng-Chun; Lee, Ya-Chen; Tung, Li-Chen

2016-01-01

Purpose This study aimed to establish 1) whether a group difference exists in the motor competence of preschool children at risk for developmental delays with intelligence quotient discrepancy (IQD; refers to difference between verbal intelligence quotient [VIQ] and performance intelligence quotient [PIQ]) and 2) whether an association exists between IQD and motor competence. Methods Children’s motor competence and IQD were determined with the motor subtests of the Comprehensive Developmental Inventory for Infants and Toddlers and Wechsler Preschool and Primary Scale of Intelligence™ – Fourth Edition. A total of 291 children were included in three groups: NON-IQD (n=213; IQD within 1 standard deviation [SD]), VIQ>PIQ (n=39; VIQ>PIQ greater than 1 SD), and PIQ>VIQ (n=39; PIQ>VIQ greater than 1 SD). Results The results of one-way analysis of variance indicated significant differences among the subgroups for the “Gross and fine motor” subdomains of the Comprehensive Developmental Inventory for Infants and Toddlers, especially on the subtests of “body-movement coordination” (F=3.87, P<0.05) and “visual-motor coordination” (F=6.90, P<0.05). Motor competence was significantly worse in the VIQ>PIQ group than in the NON and PIQ>VIQ groups. Significant negative correlations between IQD and most of the motor subtests (r=0.31–0.46, P<0.01) were found only in the VIQ>PIQ group. Conclusion This study demonstrates that 1) IQD indicates the level of motor competence in preschoolers at risk for developmental delays and 2) IQD is negatively associated with motor competence in preschoolers with significant VIQ>PIQ discrepancy. The first finding was that preschoolers with VIQ>PIQ discrepancy greater than 1 SD performed significantly worse on motor competence than did preschoolers without significant IQD and preschoolers with PIQ>VIQ discrepancy greater than 1 SD. However, preschoolers with significant PIQ>VIQ discrepancy performed better on motor competence than

Comparing Service Delivery Models for Children with Developmental Delays in Canada: Adaptive and Maladaptive Behaviours, Parental Perceptions of Stress and of Care

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…

Modeling Skills, Signs and Lettering for Children with Down Syndrome, Autism and Other Severe Developmental Delays by Video Instruction in Classroom Setting

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…

Predictors of Poor School Readiness in Children Without Developmental Delay at Age 2

PubMed Central

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

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

PubMed

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.

Continued use of an interactive computer game-based visual perception learning system in children with developmental delay.

PubMed

Lin, Hsien-Cheng; Chiu, Yu-Hsien; Chen, Yenming J; Wuang, Yee-Pay; Chen, Chiu-Ping; Wang, Chih-Chung; Huang, Chien-Ling; Wu, Tang-Meng; Ho, Wen-Hsien

2017-11-01

This study developed an interactive computer game-based visual perception learning system for special education children with developmental delay. To investigate whether perceived interactivity affects continued use of the system, this study developed a theoretical model of the process in which learners decide whether to continue using an interactive computer game-based visual perception learning system. The technology acceptance model, which considers perceived ease of use, perceived usefulness, and perceived playfulness, was extended by integrating perceived interaction (i.e., learner-instructor interaction and learner-system interaction) and then analyzing the effects of these perceptions on satisfaction and continued use. Data were collected from 150 participants (rehabilitation therapists, medical paraprofessionals, and parents of children with developmental delay) recruited from a single medical center in Taiwan. Structural equation modeling and partial-least-squares techniques were used to evaluate relationships within the model. The modeling results indicated that both perceived ease of use and perceived usefulness were positively associated with both learner-instructor interaction and learner-system interaction. However, perceived playfulness only had a positive association with learner-system interaction and not with learner-instructor interaction. Moreover, satisfaction was positively affected by perceived ease of use, perceived usefulness, and perceived playfulness. Thus, satisfaction positively affects continued use of the system. The data obtained by this study can be applied by researchers, designers of computer game-based learning systems, special education workers, and medical professionals. Copyright © 2017 Elsevier B.V. All rights reserved.

Simple Mindreading Abilities Predict Complex Theory of Mind: Developmental Delay in Autism Spectrum Disorders.

PubMed

Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia

2017-09-01

Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on the more advanced ToM task, i.e. comic strip test. Based on a sample of 37 children with ASD and 55 TD children, our results revealed slower development at varying rates in all ToM measures in children with ASD, with delayed onset compared to TD children. These results could stimulate new treatments for social abilities, which would lessen the social deficit in ASD.

Correlates of self-injurious, aggressive and destructive behaviour in children under five who are at risk of developmental delay.

PubMed

Petty, J L; Bacarese-Hamilton, M; Davies, L E; Oliver, C

2014-01-01

Several behavioural correlates of self-injury, aggression and destructive behaviour have been identified in children and young adults with intellectual disabilities. This cross-sectional study aimed to further explore these correlates in very young children with developmental delay. Parents of 56 children (40 male) under the age of five years (mean age 2 years 10 months) completed a questionnaire about their child's behaviour and the presence of behavioural correlates, including repetitive, over-active or impulsive behaviour and more severe developmental delay. Parents reported very high prevalence of self-injurious, aggressive and destructive behaviour: 51%, 64% and 51%, respectively. A binary logistic regression revealed that a higher score on a measure of overactive and impulsive behaviour significantly predicted the presence of destructive behaviour. A multiple linear regression revealed that both repetitive behaviour and number of health problems approached significance as independent predictors of severe self-injurious behaviour. Despite the very small sample, several factors emerged as potential predictors of self-injurious, aggressive and destructive behaviour. These findings support the need for further investigation in a larger sample. Confirmation in this age group could help guide the development of targeted early intervention for these behaviours by identifying behavioural risk markers. Copyright © 2013 Elsevier Ltd. All rights reserved.

Sensory features and repetitive behaviors in children with autism and developmental delays.

PubMed

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.

The Effects of Constant Time Delay Embedded into Teaching Activities for Teaching the Names of Clothes for Preschool Children with Developmental Disabilities

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…

Decreased head circumference velocity as related to developmental deficit in infancy.

PubMed

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.

Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule with Young Children with Developmental Delay: Evaluating Diagnostic Validity

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.…

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

PubMed

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.

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

PubMed Central

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. PMID:25478007

Developmental Immunotoxicity

EPA Science Inventory

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...

Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.

PubMed

Sudha, Dhandayuthapani; Patric, Irene Rosita Pia; Ganapathy, Aparna; Agarwal, Smitha; Krishna, Shuba; Neriyanuri, Srividya; Sripriya, Sarangapani; Sen, Parveen; Chidambaram, Subbulakshmi; Arunachalam, Jayamuruga Pandian

2017-01-01

In this study, we present a juvenile retinoschisis patient with developmental delay, sensorineural hearing loss, and reduced axial tone. X-linked juvenile retinoschisis (XLRS) is a retinal dystrophy, most often not associated with systemic anomalies and also not showing any locus heterogeneity. Therefore it was of interest to understand the genetic basis of the condition in this patient. RS1 gene screening for XLRS was performed by Sanger sequencing. Whole genome SNP 6.0 array analysis was carried out to investigate gross chromosomal aberrations that could result in systemic phenotype. In addition, targeted next generation sequencing (NGS) was employed to determine any possible involvement of X-linked syndromic and non-syndromic mental retardation genes. This NGS panel consisted of 550 genes implicated in several other rare inherited diseases. RS1 gene screening revealed a pathogenic hemizygous splice site mutation (c.78+1G>T), inherited from the mother. SNP 6.0 array analysis did not indicate any significant chromosomal aberrations that could be disease-associated. Targeted resequencing did not identify any mutations in the X-linked mental retardation genes. However, variations in three other genes (NSD1, LARGE, and POLG) were detected, which were all inherited from the patient's unaffected father. Taken together, RS1 mutation was found to segregate with retinoschisis phenotype while none of the other identified variations were co-segregating with the systemic defects. Hereby, we infer that the multisystemic defects harbored by the patient are a rare coexistence of XLRS, developmental delay, sensorineural hearing loss, and reduced axial tone reported for the first time in the literature.

Motor skill interventions to improve fundamental movement skills of preschoolers with developmental delay.

PubMed

Kirk, Megan A; Rhodes, Ryan E

2011-07-01

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 criteria. Major findings were summarized based on common subtopics of overall intervention effect, locomotor skill outcomes, object-control outcomes, and gender differences. Trials ranged from 8 to 24 weeks and offered 540-1700 min of instruction. The majority of trials (n = 9) significantly improved FMS of preschoolers with DD, with a large intervention effect (η(2) = 0.57-0.85). This review supports the utility of interventions to improve FMS of preschoolers with DD. Future researchers are encouraged to include more robust designs, a theoretical framework, and involvement of parents and teachers in the delivery of the intervention.

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…

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

PubMed Central

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

Developmental delays in emotion regulation strategies in preschoolers with autism.

PubMed

Nuske, Heather J; Hedley, Darren; Woollacott, Alexandra; Thomson, Phoebe; Macari, Suzanne; Dissanayake, Cheryl

2017-11-01

Children with autism spectrum disorder (ASD) commonly present with difficulty regulating negative emotions, which has been found to impact their behavioral and mental health. Little research has documented the strategies that children with ASD use to regulate their emotion to understand whether they use qualitatively different strategies to children without ASD, whether these are developmentally delayed, or both. Forty-four children with ASD and 29 typically-developing children (2-4 years) were given tasks designed to mimic everyday life experiences requiring children to manage low-level stress (e.g., waiting for a snack) and children's emotion regulation strategies were coded. Parents reported on their child's mental health, wellbeing, and self-development. The results suggest differences in using emotion regulation strategies in children with ASD, reflecting a delay, rather than a deviance when compared to those used by children without ASD. Only children with ASD relied on their family members for physical and communicative soothing; the typically developing children relied on people outside of their family for help regulating their emotion. More frequent approach/less frequent avoidance was related to a higher self-evaluation in both groups, but was only additionally related to higher self-recognition and autonomy in the ASD group. These findings help to identify important emotion regulation intervention targets for this population, including supporting communication with people outside of the family and independence. Autism Res 2017, 10: 1808-1822. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Results suggest that children with autism had more difficulty using communication strategies to manage stress only with people outside the family; they used these strategies with family members as often as children without autism. For all children, more task approach/less avoidance was related to children's higher self-evaluation. These

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

PubMed Central

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

A 20 year review of punishment and alternative methods to treat problem behaviors in developmentally delayed persons.

PubMed

Matson, J L; Taras, M E

1989-01-01

Relevant journals were reviewed (n = 23) for a 20 year period (1967 to 1987) to assess the status of treatments for severe behavior problems of developmentally delayed persons. A hand search of journals was made; 382 studies were identified. Procedures were analyzed by problem behaviors treated, side effects reported, whether the procedure involved painful stimuli, nonpainful stimuli, food satiation, positive procedures, extinction or combinations of methods. The number of studies reported yearly was also plotted. The implication of these data for federal and state policy makers and for treatment programs dealing with difficult to treat clients is discussed.

Paternal versus maternal coping styles with child diagnosis of developmental delay.

PubMed

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.

Prenatal SSRI Use and Offspring With Autism Spectrum Disorder or Developmental Delay

PubMed Central

Lee, Li-Ching; Crum, Rosa M.; Zimmerman, Andrew W.; Hertz-Picciotto, Irva

2014-01-01

OBJECTIVE: To examine associations between prenatal use of selective serotonin reuptake inhibitors (SSRIs) and the odds of autism spectrum disorders (ASDs) and other developmental delays (DDs). METHODS: A total of 966 mother-child pairs were evaluated (492 ASD, 154 DD, 320 typical development [TD]) from the Childhood Autism Risks from Genetics and the Environment (CHARGE) Study, a population-based case-control study. Standardized measures confirmed developmental status. Interviews with biological mothers ascertained prenatal SSRI use, maternal mental health history, and sociodemographic information. RESULTS: Overall, prevalence of prenatal SSRI exposure was lowest in TD children (3.4%) but did not differ significantly from ASD (5.9%) or DD (5.2%) children. Among boys, prenatal SSRI exposure was nearly 3 times as likely in children with ASD relative to TD (adjusted odds ratio [OR]: 2.91; 95% confidence interval [CI]: 1.07–7.93); the strongest association occurred with first-trimester exposure (OR: 3.22; 95% CI: 1.17–8.84). Exposure was also elevated among boys with DD (OR: 3.39; 95% CI: 0.98–11.75) and was strongest in the third trimester (OR: 4.98; 95% CI: 1.20–20.62). Findings were similar among mothers with an anxiety or mood disorder history. CONCLUSIONS: In boys, prenatal exposure to SSRIs may increase susceptibility to ASD or DD. Findings from published studies on SSRIs and ASD continues to be inconsistent. Potential recall bias and residual confounding by indication are concerns. Larger samples are needed to replicate DD results. Because maternal depression itself carries risks for the fetus, the benefits of prenatal SSRI use should be carefully weighed against potential harms. PMID:24733881

Effectiveness of a low-cost virtual reality system for children with developmental delay: a preliminary randomised single-blind controlled trial.

PubMed

Salem, Yasser; Gropack, Stacy Jaffee; Coffin, Dale; Godwin, Ellen M

2012-09-01

Physical and occupational therapists have started to use the Nintendo Wii™ gaming system with adults and children as part of their regular treatment. Despite the growing use of the Wii and trend towards evidence-based practice, limited evidence is available on the effectiveness of virtual reality using the Wii for children with developmental delay. The purpose of this study was to determine the feasibility and preliminary effectiveness of a low-cost gaming system for young children with developmental delay. Single-blind, randomised controlled trial. Forty children with developmental delay (age 39 to 58 months) who attended a segregated or integrated preschool participated in this study. All children's parents read and signed an informed consent form approved by the institutional review board. Children were assigned at random to an experimental (Wii) group (n=20) or a control group (n=20). Two weekly sessions for 10 weeks using Nintendo Wii Sports™ and Nintendo Wii Fit™, including balance, strength training and aerobics games. Participants were evaluated 1 week before and 1 week after the programme by a blinded investigator. Primary outcomes were gait speed, timed up and go test, single leg stance test, five-times-sit-to-stand test, timed up and down stairs test, 2-minute walk test and grip strength. The Gross Motor Function Measure (GMFM) was used to assess gross motor skills. The two groups were homogenous regarding all parameters at baseline. The Wii training was feasible and enjoyable for those in the experimental group. There were no adverse effects or injuries reported over 267 training sessions. Comparison of groups following the intervention indicated that the experimental group showed significant improvements compared with the control group in single leg stance test {mean difference 1.03 [standard deviation (SD) 1.7], 95% confidence interval (CI) 0.2 to 1.9; P=0.017}, right grip strength [mean difference 1.11 (SD 1.84), 95% CI 0.15 to 2.06; P=0

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

PubMed

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.

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

PubMed

Kim, Myungjin; Sandford, Erin; Gatica, Damian; Qiu, Yu; Liu, Xu; Zheng, Yumei; Schulman, Brenda A; Xu, Jishu; Semple, Ian; Ro, Seung-Hyun; Kim, Boyoung; Mavioglu, R Nehir; Tolun, Aslıhan; Jipa, Andras; Takats, Szabolcs; Karpati, Manuela; Li, Jun Z; Yapici, Zuhal; Juhasz, Gabor; Lee, Jun Hee; Klionsky, Daniel J; Burmeister, Margit

2016-01-26

Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a conserved amino acid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay. The subjects' cells display a decrease in autophagy flux and defects in conjugation of ATG12 to ATG5. The homologous mutation in yeast demonstrates a 30-50% reduction of induced autophagy. Flies in which Atg5 is substituted with the mutant human ATG5 exhibit severe movement disorder, in contrast to flies expressing the wild-type human protein. Our results demonstrate the critical role of autophagy in preventing neurological diseases and maintaining neuronal health.

Increasing pre-kindergarten early literacy skills in children with developmental disabilities and delays.

PubMed

Pears, Katherine C; Kim, Hyoun K; Fisher, Philip A; Yoerger, Karen

2016-08-01

Two hundred and nine children receiving early childhood special education services for developmental disabilities or delays who also had behavioral, social, or attentional difficulties were included in a study of an intervention to increase school readiness, including early literacy skills. Results showed that the intervention had a significant positive effect on children's literacy skills from baseline to the end of summer before the start of kindergarten (d=.14). The intervention also had significant indirect effects on teacher ratings of children's literacy skills during the fall of their kindergarten year (β=.09). Additionally, when scores were compared to standard benchmarks, a greater percentage of the children who received the intervention moved from being at risk for reading difficulties to having low risk. Overall, this study demonstrates that a school readiness intervention delivered prior to the start of kindergarten may help increase children's early literacy skills. Copyright © 2016 Society for the Study of School Psychology. Published by Elsevier Ltd. All rights reserved.

Conditional deletion of Dicer in vascular smooth muscle cells leads to the developmental delay and embryonic mortality

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pan, Yaoqian; Center for Cancer Research, University of Tennessee Health Science Center, Memphis, TN 38163; Balazs, Louisa

2011-05-13

Highlights: {yields} Deletion of Dicer in vascular smooth muscle cells(VSMCs) leads to embryonic mortality. {yields} Loss of Dicer in VSMCs leads to developmental delay. {yields} Loss of Dicer in VSMCs leads to hemorrhage in various organs including brain, skin and liver. {yields} Loss of Dicer in VSMCs leads to vascular wall remodeling. {yields} Loss of Dicer in VSMCs dysregulates the expression of miRNA and VSMC marker genes. -- Abstract: Dicer is a RNAase III enzyme that cleaves double stranded RNA and generates small interfering RNA (siRNA) and microRNA (miRNA). The goal of this study is to examine the role ofmore » Dicer and miRNAs in vascular smooth muscle cells (VSMCs). We deleted Dicer in VSMCs of mice, which caused a developmental delay that manifested as early as embryonic day E12.5, leading to embryonic death between E14.5 and E15.5 due to extensive hemorrhage in the liver, brain, and skin. Dicer KO embryos showed dilated blood vessels and a disarray of vascular architecture between E14.5 and E15.5. VSMC proliferation was significantly inhibited in Dicer KOs. The expression of VSMC marker genes were significantly downregulated in Dicer cKO embryos. The vascular structure of the yolk sac and embryo in Dicer KOs was lost to an extent that no blood vessels could be identified after E15.5. Expression of most miRNAs examined was compromised in VSMCs of Dicer KO. Our results indicate that Dicer is required for vascular development and regulates vascular remodeling by modulating VSMC proliferation and differentiation.« less

Developmental risk and young children's regulatory strategies: predicting behavior problems at age five.

PubMed

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.

Aetiologic spectrum of mental retardation & developmental delay in India

PubMed Central

Aggarwal, Shagun; Bogula, Vijay Raju; Mandal, Kausik; Kumar, Rashmi; Phadke, Shubha R.

2012-01-01

Background & objectives: The aetiology of mental retardation is varied and difficult to establish. Reports from India on the spectrum of underlying causative conditions are lacking. This retrospective study was conducted to establish the various aetiologies of mental retardation (MR) and developmental delay (DD) in patients attending a medical genetics centre in north India and to assess the contribution of genetic disorders. Methods: This retrospective study was conducted at a tertiary care centre in north India. All patients attending the centre with MR or DD from January 2007 to December 2009 were included. The aetiology of MR/DD was ascertained after clinical assessment and targeted laboratory evaluation. The spectrum of causative conditions and contribution of genetic disorders was established. Results: A total of 338 patients were included in the study, of whom definite diagnosis was established in 253 (74.8%). The various aetiological categories were: chromosomal disorders in 112 (33.1%), non chromosomal syndromes in 32 (9.5%), neurometabolic disorders in 34 (10.1%), central nervous system structural defects in 25 (7.4%), cerebral palsy in 43 (12.7%) and environmental insults in 7 (2%). Eighty five patients (25.2%) had idiopathic mental retardation. A total of 196 (58%) patients had a genetic disorder as the cause of MR/DD. Interpretation & conclusions: The aetiology of MR/DD is varied and difficult to establish in a significant proportion of patients. Chromosomal and various monogenic disorders contribute to a large number of MR/DD cases and hence a genetic work up is essential for all such patients. PMID:23041737

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

PubMed

Lamb, Allen N; Rosenfeld, Jill A; Neill, Nicholas J; Talkowski, Michael E; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I; Rosenbaum, Kenneth; Vallee, Stephanie E; Moeschler, John B; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron-Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M; Opheim, Kent E; Descartes, Maria; Eichler, Evan E; Morton, Cynthia C; Gusella, James F; Schultz, Roger A; Ballif, Blake C; Shaffer, Lisa G

2012-04-01

SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. Common features in these subjects include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions may depend on the location of the deletion and, consequently, which of the three major SOX5 protein isoforms are affected. One intragenic deletion, involving only untranslated exons, was present in a more mildly affected subject, was inherited from a healthy parent and grandparent, and is similar to a deletion found in a control cohort. Therefore, some intragenic SOX5 deletions may have minimal phenotypic effect. Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage-sensitive, developmentally important gene. © 2012 Wiley Periodicals, Inc.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

PubMed

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.

Sports participation of children with or without developmental delay: prediction from child and family factors.

PubMed

Marquis, Willa A; Baker, Bruce L

2015-02-01

Sports participation is beneficial to health and socioemotional adjustment in youth across development. While there is some evidence indicating lower sports participation for children with developmental delays (DD) as compared with their typically developing (TD) peers, little is known as to the predictors of this differential participation. Given the increased risk of physical and mental health difficulties for children with DD, understanding more about this disparity is important. We examined sports participation in elementary school-aged children with or without DD and examined child and family predictors of three indices of sports participation: number of sports and highest relational sport at ages 6 and 8, and consistent sports from 6 to 8. Children with TD were significantly higher on all three indicators. Mother and child factors related significantly to sports participation indices. The number of sports related positively to mother education and positive perceptions and negatively to mother employment. Relational sports were higher in boys, children with higher social skills, and lower behavior problems. In regression analyses at child age 8 that included these other variables, delay status (DD or TD) did not have a significant effect. Perspectives on varying influences on sports participation and implications for intervention are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study

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…

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

PubMed Central

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

Modulating Tone to Promote Motor Development Using a Neurofacilitation of Developmental Reaction (NFDR) Approach in Children with Neurodevelopmental Delay

PubMed Central

Batra, Vijay; Batra, Meenakshi; Pandey, Ravindra Mohan; Sharma, Vijai Prakash; Agarwal, Girdhar Gopal

2015-01-01

Objective To compare the efficacy of a Neurofacilitation of Developmental Reaction (NFDR) approach with that of a Conventional approach in the modulation of tone in children with neurodevelopmental delay. Methods Experimental control design. A total of 30 spastic children ranging in age from 4 to 7 years with neurodevelopmental delay were included. Baseline evaluations of muscle tone and gross motor functional performance abilities were performed. The children were allocated into two intervention groups of 15 subjects each. In groups A and B, the NFDR and conventional approaches were applied, respectively, for 3 months and were followed by subsequent re-evaluations. Results Between group analyses were performed using independent t test for tone and primitive reflex intensity and a Mann-Whitney U test for gross motor functional ability. For the within-group analyses, paired t tests were used for tone and primitive reflex intensity, and a Wilcoxon signed-rank test was used for gross motor functional ability. Conclusion The NFDR approach/technique prepares the muscle to undergo tonal modulation and thereby enhances motor development and improves the motor functional performance abilities of the children with neurodevelopmental delay. PMID:28239268

Developmental Trajectories for Children With Dyslexia and Low IQ Poor Readers

PubMed Central

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

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…

Prevalence of suspected developmental delays in early infancy: results from a regional population-based longitudinal study.

PubMed

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

Developmental Care Rounds: An Interdisciplinary Approach to Support Developmentally Appropriate Care of Infants Born with Complex Congenital Heart Disease.

PubMed

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.

Speech and Language Delay

MedlinePlus

... 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, ...

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

PubMed

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.

Comprehensive evaluation of the child with intellectual disability or global developmental delays.

PubMed

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.

Neurodevelopmental delay associated with nonconvulsive status epilepticus in a toddler.

PubMed

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.

Mathematical problems in children with developmental coordination disorder.

PubMed

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.

Parenting Practices and Associations with Development Delays among Young Children in Dominican Republic.

PubMed

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

Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.

PubMed

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.

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

PubMed

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/

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

PubMed

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.

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

PubMed

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.

De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.

PubMed

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.

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…

Longitudinal assessment of stereotypic, proto-injurious, and self-injurious behavior exhibited by young children with developmental delays.

PubMed

Richman, David M; Lindauer, Steven E

2005-11-01

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 behavior eventually caused tissue damage; or (b) a new topography emerged that was similar to an established stereotypic motor behavior. Functional analysis results were inconclusive for the majority of target behaviors across participants due to undifferentiated responding across conditions. One participant exhibited two topographies that appeared to become sensitive to positive reinforcement over time. Results are discussed in terms of implications for future research on early intervention and prevention of self-injury.

Developmental profiles and mentality in preschool children with Prader-Willi syndrome: a preliminary study.

PubMed

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.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.

PubMed

Fan, Yanjie; Wu, Yanming; Wang, Lili; Wang, Yu; Gong, Zhuwen; Qiu, Wenjuan; Wang, Jingmin; Zhang, Huiwen; Ji, Xing; Ye, Jun; Han, Lianshu; Jin, Xingming; Shen, Yongnian; Li, Fei; Xiao, Bing; Liang, Lili; Zhang, Xia; Liu, Xiaomin; Gu, Xuefan; Yu, Yongguo

2018-05-24

Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among DD/ID patients with different comorbid conditions. To investigate the genotype-phenotype correlation, we examined the characteristics of identified pathogenic copy number variations (pCNVs) and compared the diagnostic yields among patient subgroups with different co-occurring conditions. This study is a retrospective review of CMA results generated from a mixed cohort of 710 Chinese patients with DD/ID. A total of 247 pCNVs were identified in 201 patients (28%). A large portion of these pCNVs were copy number losses, and the size of copy number losses was generally smaller than gains. The diagnostic yields were significantly higher in subgroups with co-occurring congenital heart defects (55%), facial dysmorphism (39%), microcephaly (34%) or hypotonia (35%), whereas co-occurring conditions of skeletal malformation (26%), brain malformation (24%) or epilepsy (24%) did not alter the yield. In addition, the diagnostic yield nominally correlated with ID severity. Varied yields exist in DD/ID patients with different phenotypic presentation. The presence of comorbid conditions can be among factors to consider when planning CMA.

Delayed plumage maturation and delayed reproductive investment in birds.

PubMed

Hawkins, Gerard L; Hill, Geoffrey E; Mercadante, Austin

2012-05-01

Delayed plumage maturation is the delayed acquisition of a definitive colour and pattern of plumage until after the first potential breeding period in birds. Here we provide a comprehensive overview of the numerous studies of delayed plumage maturation and a revised theoretical framework for understanding the function of delayed plumage maturation in all birds. We first distinguish between hypotheses that delayed plumage maturation is attributable to a moult constraint with no adaptive function and hypotheses that propose that delayed plumage maturation is a component of an adaptive life-history strategy associated with delayed reproductive investment. We then recognize three potential benefits of delayed plumage maturation: crypsis, mimicry and status signaling. Evidence suggests that delayed plumage maturation is not a consequence of developmental constraints and instead represents a strategy to maximize reproductive success in circumstances where young adults cannot effectively compete with older adults for limited resources, particularly breeding opportunities. A multi-factorial explanation that takes into account lifespan and the degree of competition for limited breeding resources and that combines the benefits of an inconspicuous appearance with the benefits of honest signaling of reduced competitiveness provides a general explanation for the function of delayed plumage maturation in most bird species. Delayed plumage maturation should be viewed as a component of alternative reproductive strategies that can include delay in both plumage and sexual development. Such strategies are frequently facultative, with individuals breeding prior to the acquisition of definitive plumages when conditions are favourable. Presumably, the benefits of delayed plumage maturation ultimately enhance lifetime reproductive success, and studying delayed plumage maturation within the context of lifetime reproductive success should be a goal of future studies. © 2011 The Authors

Quantifiers more or less quantify online: ERP evidence for partial incremental interpretation

PubMed Central

Urbach, Thomas P.; Kutas, Marta

2010-01-01

Event-related brain potentials were recorded during RSVP reading to test the hypothesis that quantifier expressions are incrementally interpreted fully and immediately. In sentences tapping general knowledge (Farmers grow crops/worms as their primary source of income), Experiment 1 found larger N400s for atypical (worms) than typical objects (crops). Experiment 2 crossed object typicality with non-logical subject-noun phrase quantifiers (most, few). Off-line plausibility ratings exhibited the crossover interaction predicted by full quantifier interpretation: Most farmers grow crops and Few farmers grow worms were rated more plausible than Most farmers grow worms and Few farmers grow crops. Object N400s, although modulated in the expected direction, did not reverse. Experiment 3 replicated these findings with adverbial quantifiers (Farmers often/rarely grow crops/worms). Interpretation of quantifier expressions thus is neither fully immediate nor fully delayed. Furthermore, object atypicality was associated with a frontal slow positivity in few-type/rarely quantifier contexts, suggesting systematic processing differences among quantifier types. PMID:20640044

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…

Salivary Alpha Amylase and Cortisol Levels in Children with Global Developmental Delay and Their Relation with the Expectation of Dental Care and Behavior during the Intervention

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…

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.

PubMed

Harcourt, Brooke E; Bullen, Denise V R; Kao, Kung-Ting; Tassoni, Daniella; Alexander, Erin J; Burgess, Trent; White, Susan M; Sabin, Matthew A

2018-01-01

Childhood obesity is a significant world health problem. Understanding the genetic and environmental factors contributing to the development of obesity in childhood is important for the rational design of strategies for obesity prevention and treatment. Brain-derived neurotrophic factor (BDNF) plays an important role in the growth and development of the central nervous system, there is also an evidence that BDNF plays a role in regulation of appetite. Disruption of the expression of this gene in a child has been previously reported to result in a phenotype of severe obesity, hyperphagia, impaired cognitive function, and hyperactivity. We report a mother and child, both with micro-deletions encompassing the BDNF gene locus, who both have obesity and developmental delay, although without hyperactivity. This report highlights the maternal inheritance of a rare genetic cause of childhood obesity. © 2017 Wiley Periodicals, Inc.

The Consequences of Delayed Enrollment in Developmental Mathematics

ERIC Educational Resources Information Center

Fike, David S.; Fike, Renea

2012-01-01

Though a large percentage of U.S. students enter higher education with mathematics deficiencies, many institutions allow these students to decide the timing of their enrollment in developmental mathematics courses. This study of 3476 first-time-in-college students entailed the review of student outcomes (Fall GPA, Fall-to-Spring retention,…

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…

The Differential Effects of the Use of Handwriting without Tears® Modified Gray Block Paper to Teach Two Preschool Students with Developmental Delays Capital Letter Writing Skills

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…

Binge consumption of ethanol during pregnancy leads to significant developmental delay of mouse embryonic brain

NASA Astrophysics Data System (ADS)

Sudheendran, Narendran; Bake, Shameena; Miranda, Rajesh C.; Larin, Kirill V.

2014-03-01

Consumption of alcohol during pregnancy can be severely detrimental to the development of the brain in fetuses. This study explores the usage of optical coherence tomography (OCT) to the study the effects of maternal consumption of ethanol on brain development in mouse fetuses. On gestational day 14.5, fetuses were collected and fixed in 4% paraformaldehyde. A swept-source OCT (SSOCT) system was used to acquire 3D images of the brain of ethanol-exposed and control fetuses. The volume of right and left brain ventricles were measured and used to compare between ethanol-exposed and control fetuses. A total of 5 fetuses were used for each of the two groups. The average volumes of the right and left ventricles were measured to be 0.35 and 0.15 mm3 for ethanol-exposed and control fetuses, respectively. The results demonstrated that there is an alcohol-induced developmental delay in mouse fetal brains.

Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

PubMed

Lukoshe, Akvile; Hokken-Koelega, Anita C; van der Lugt, Aad; White, Tonya

2014-01-01

Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite. Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in

Pica in a Four-Year-Old Girl with Global Developmental Delay.

PubMed

Liu, Yi Hui; Pesch, Megan H; Lumeng, Julie C; Stein, Martin T

2015-01-01

Emily is a 4 and half-year-old girl whose foster mother is concerned about her odd eating behaviors. Emily has been with her foster mother for 1 year after exposure to domestic violence. Emily's habit of eating nonfood items led to her foster mother providing "100% supervision." Emily constantly picks up, smells, and tastes nonfood items, particularly rocks and things made of metal. She "explores everything with her tongue." Emily scoops dirt and gravel from sidewalk crevices into her mouth. Although toileting, she catches and licks urine in her hand and searches for stool to put in her mouth. With redirection, Emily stopped putting feces into her mouth, but after spending time with her biological family, this behavior recurred.Emily does not like to eat foods that are hard or require chewing. She does not choke or gag on solid foods or liquids. She likes foods that are sweet. She refuses to eat vegetables and foods with certain textures. Emily pulls food apart with her hands before putting it in her mouth.Emily has global developmental delay, cerebral palsy, contractures in her legs, and strabismus. A medical workup resulted in a diagnosis of trisomy 4p and monosomy 9p. Emily works with a physical therapist and occupational therapist; she attends preschool in a special day class. She is an alert, playful, and socially engaging girl who walks with an abnormal gait, speaks in short sentences, and follows simple directions.

MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.

PubMed

Saito, Mari; Yamagata, Takanori; Matsumoto, Ayumi; Shiba, Yusuke; Nagashima, Masako; Taniguchi, Shuhei; Jimbo, Eriko; Momoi, Mariko Y

2014-01-01

Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0MB to 43.8MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Mitigating the Effects of Poverty and Crime: The Long-Term Effects of an Early Intervention Programme for Children Who Were Developmentally Delayed and Prenatally Exposed to Cocaine

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…

Home activity programs in families with children presenting with global developmental delays: evaluation and parental perceptions.

PubMed

Tétreault, Sylvie; Parrot, Ann; Trahan, Johanne

2003-09-01

The present study presents a descriptive evaluation of home activity programs (HAP) in families living with a child diagnosed with global developmental delay (GDD) and investigates parental perceptions about the use of HAPs. Forty-one families were selected from an initial pool of 95. Application of the HAP--delivered by an occupational therapist, physical therapist or speech therapist--was evaluated via a telephone survey. Data about parental perceptions of the HAP was collected. The results indicate a high degree of compliance with the program; 31 families were still using the HAP after 7 months. The degree of compliance is dependent on the degree of support given by the therapist and on the size of the family and many parents who maintained high compliance seemed to be those most vulnerable to stress. When giving out HAPs, therapists should be aware of the great demands they place on mothers.

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

PubMed

Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M

2017-06-01

Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation. © 2017 Wiley Periodicals, Inc.

Initiation of movement and energy expenditure in children with developmental delay: a case-control study.

PubMed

Chen, Chiao-Nan Joyce; Hwang, Ai-Wen; Lin, Shang-Ying; Lin, Yu-Chieh

2014-10-01

Lower levels of physical activity in children with developmental delay (DD) usually are attributed to higher energy costs. However, there is no evidence that children with DD spend more energy on daily physical activities, such as walking. The aim of this study was to compare energy costs during walking and movement initiation times in children with DD and children with typical development (TD) and matched for age. This was a case-control study. Children who were 3 and 5 years old and had DD (n=12) or TD (n=12) participated in the study. Measurements included ranges of motion in the lower extremities, physiological costs of walking, and movement initiation times. A task designed to evaluate the initiation of movement (the "go play with the toy" task) was used to examine the reaction times for children's goal-directed walking. The physiological costs of walking were similar in the 2 groups; however, children with DD walked at a lower speed than children with TD. Importantly, children with DD took more time to initiate goal-directed walking. The nature of the study design limited causal inference from the results. Children who were 3 to 5 years old and had DD had delays in goal-directed movement that may not have been attributable to motor impairments. The findings suggest that therapists should evaluate the movement initiation ability of 3- to 5-year-old children with DD as part of the design of an overall intervention plan. © 2014 American Physical Therapy Association.

Confirmatory Factor Analysis of a Family Quality of Life Scale for Taiwanese Families of Children With Intellectual Disability/Developmental Delay.

PubMed

Chiu, Chun-Yu; Seo, Hyojeong; Turnbull, Ann P; Summers, Jean Ann

2017-04-01

The Beach Center Family Quality of Life Scale is an internationally validated instrument for measuring family outcomes. To revise the scale for better alignment with the Family Quality of Life theory, the authors excluded non-outcome items in this revision. In this study, we examined reliability and validity of the revised scale (i.e., the FQoL Scale-21) and its scores for Taiwanese families of children and youth with intellectual disability and developmental delay (age 0-18). Results from 400 Taiwanese respondents suggested that the FQoL Scale-21 has the potential to be used as an indicator of positive outcomes in intervention evaluation, policy making, and service delivery.

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies.

PubMed

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.

Children with developmental and behavioural concerns in Singapore.

PubMed

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.

Delayed cerebral development in twins with congenital hyperthyroidism.

PubMed

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.

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,…

Maternal supportive and interfering control as predictors of adaptive and social development in children with and without developmental delays

PubMed Central

Green, S.; Caplan, B.; Baker, B.

2016-01-01

Background Parents of children with developmental delays (DD) have been found to use more controlling behaviour with their children than parents of children with typical development (TD). While controlling behaviour is related to poorer developmental outcomes in TD children, there is little research on how it predicts outcomes in DD children. Furthermore, existing research tends to use inconsistent or non-specific definitions of controlling behaviour, often combining parent control which follows the child’s goal (e.g. supportive direction) and that which interferes with the child’s goal (e.g. interference). Methods Participants were 200 mother–child dyads observed at child age 3, with follow-up assessments of adaptive behaviour and social skills administered at child ages 5 and 6, respectively. We coded the frequency of both types of controlling behaviour based on mothers’ interactions with their children with TD (n = 113) or DD (n = 87) at age 3. Results Mothers in the DD group used more interfering but not more supportive directive acts compared to mothers in the TD group. Adaptive behaviour was assessed at child age 5 and social skills were assessed at age 6. Higher frequency of supportive directive acts predicted better adaptive functioning for the TD group and better social skills for the DD group. Higher frequency of interfering acts predicted lower adaptive and social skills for children with DD but not with TD. Conclusions Results are discussed in terms of the differential developmental needs of children with and without DD as well as implications for early intervention. PMID:23865770

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…

The effects of early positive parenting and developmental delay status on child emotion dysregulation.

PubMed

Norona, A N; Baker, B L

2017-02-01

Emotion regulation has been identified as a robust predictor of adaptive functioning across a variety of domains (Aldao et al. ). Furthermore, research examining early predictors of competence and deficits in ER suggests that factors internal to the individual (e.g. neuroregulatory reactivity, behavioural traits and cognitive ability) and external to the individual (e.g. caregiving styles and explicit ER training) contribute to the development of ER (Calkins ). Many studies have focused on internal sources or external sources; however, few have studied them simultaneously within one model, especially in studies examining children with developmental delays (DD). Here, we addressed this specific research gap and examined the contributions of one internal factor and one external factor on emotion dysregulation outcomes in middle childhood. Specifically, our current study used structural equation modelling (SEM) to examine prospective, predictive relationships between DD status, positive parenting at age 4 years and child emotion dysregulation at age 7 years. Participants were 151 families in the Collaborative Family Study, a longitudinal study of young children with and without DD. A positive parenting factor was composed of sensitivity and scaffolding scores from mother-child interactions at home and in the research centre at child age 4 years. A child dysregulation factor was composed of a dysregulation code from mother-child interactions and a parent-report measure of ER and lability/negativity at age 7 years. Finally, we tested the hypothesis that positive parenting would mediate the relationship between DD and child dysregulation. Mothers of children with DD exhibited fewer sensitive and scaffolding behaviours compared with mothers of typically developing children, and children with DD were more dysregulated on all measures of ER. SEM revealed that both DD status and early positive parenting predicted emotion dysregulation in middle childhood. Furthermore

Tracking and Quantifying Developmental Processes in C. elegans Using Open-source Tools.

PubMed

Dutta, Priyanka; Lehmann, Christina; Odedra, Devang; Singh, Deepika; Pohl, Christian

2015-12-16

Quantitatively capturing developmental processes is crucial to derive mechanistic models and key to identify and describe mutant phenotypes. Here protocols are presented for preparing embryos and adult C. elegans animals for short- and long-term time-lapse microscopy and methods for tracking and quantification of developmental processes. The methods presented are all based on C. elegans strains available from the Caenorhabditis Genetics Center and on open-source software that can be easily implemented in any laboratory independently of the microscopy system used. A reconstruction of a 3D cell-shape model using the modelling software IMOD, manual tracking of fluorescently-labeled subcellular structures using the multi-purpose image analysis program Endrov, and an analysis of cortical contractile flow using PIVlab (Time-Resolved Digital Particle Image Velocimetry Tool for MATLAB) are shown. It is discussed how these methods can also be deployed to quantitatively capture other developmental processes in different models, e.g., cell tracking and lineage tracing, tracking of vesicle flow.

Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay, and siblings of children with mental retardation of unknown genetic etiology.

PubMed

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.

A comparative review of developmental screening tests.

PubMed

Glascoe, F P; Martin, E D; Humphrey, S

1990-10-01

Public Law 99-457 amends the Education of the Handicapped Act to include services for children from birth through 3 years. Inasmuch as detection and referral of children with developmental delays continues to reside largely with pediatricians and other health care professionals, developmental screening, using standardized tests, is increasingly important. To help physicians select from the array of instruments, 19 different screening tests were administered by a pediatrician and rated by a panel of pediatricians and a special educator. While the panel found few tests that fit within the time constraints of pediatric practice, several tests approached standards for educational and psychologic tests. These included the Battelle Developmental Inventory Screening Test, Infant Monitoring System, Developmental Indicators for Assessment of Learning-Revised, Screening Children for Related Early Educational Needs, and the Developmental Profile II.

Twins and virtual twins: Do genetic (as well as experiential) factors affect developmental risks?

PubMed

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.

CDC Kerala 5: Developmental therapy clinic experience--use of Child Development Centre grading for motor milestones.

PubMed

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.

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

PubMed

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.

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

PubMed Central

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

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.

PubMed

Akhtar, S; Bron, A J; Qin, X; Creer, R C; Guggenheim, J A; Meek, K M

2005-02-01

Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autosomal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian child with GDLD who also exhibited global developmental delay. Bilateral lamellar keratoplasty was carried out at age 6 and 7 years. Tissue was fixed for light and electron microscopy, including immunoelectronmicroscopy. The coding region of the M1S1 gene was screened for mutations in the affected proband and available relatives, using DNA extracted from mouthwashes. Nodular deposits, which were present subepithelially and in the central superficial stroma, stained typically for amyloid with PAS and Congo red. A nodular deposit of amyloid, together with large amounts of lactoferrin and sparse amounts of keratoepithelin (betaig-h3), was present in the central superficial stroma, causing destruction of Bowman's layer and elevation of the thinned, degenerate epithelium. Around the deposit zone, the stroma exhibited large numbers of thick filamentous proteoglycan deposits. While the affected child was homozygous for a novel A1133 C single-nucleotide polymorphism (SNP) that resulted in an aspartic acid to alanine substitution at position 173 of the M1S1 coding sequence, this polymorphism was also found at relatively high frequency in a sample of normal controls, enabling exclusion of the M1S1 gene as the disease locus. Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeability of the superficial epithelial cells. An association with developmental delay has not been reported previously.

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…

The movement patterns used to rise from a supine position by children with developmental delay and age-related differences in these.

PubMed

Hsue, Bih-Jen; Wang, Yun-Er; Chen, Yung-Jung

2014-09-01

The purposes of this study were to determine (1) movement patterns and strategies of children with mild to moderate developmental delay (DD) used to rise up and how they differ from those used by age-matched children with typical development (TD), (2) whether the movement patterns differ with age in children with DD, and (3) to determine the developmental sequences for the UE, AX and LE in children with DD and whether they are different from those used by children with TD. Sixty six children with TD and 31 children with DD aged two to six years were recruited. Peabody Developmental Motor Scale II (PDMS-2) was used to determine the motor performance level. The participants were recorded during rising for at least five repetitions. Two trained pediatric physical therapists viewed each video recording and classified the movement patterns of the upper extremities (UE), trunk/axial (AX) and lower extremities (LE) regions using descriptive categories developed by previous researchers. The DD and TD groups were further divided into four subgroups each using a one-year interval. The percentage of occurrence of the each UE, AX and LE movement was determined and compared across subgroups, and between each age-matched pair of TD and DD groups. The results demonstrated that the participants in the TD group clearly followed the proposed developmental sequence and the children with DD followed the developmental sequences but with different maturation speeds and greater variability, especially at the age of three to five years. The most common movement patterns used by the children in each of the DD subgroups were at least one developmental categorical pattern behind those used by the age-matched children with TD before five years old, except for the LE region. In the DD group, the movement patterns had moderate to high correlation with the child's motor performance level, indicating that the children with better motor performances used more developmentally advanced patterns in

Positive Parenting Practices, Health Disparities, and Developmental Progress.

PubMed

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.

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…

CO2 induced seawater acidification impacts sea urchin larval development I: elevated metabolic rates decrease scope for growth and induce developmental delay.

PubMed

Stumpp, M; Wren, J; Melzner, F; Thorndyke, M C; Dupont, S T

2011-11-01

Anthropogenic CO(2) emissions are acidifying the world's oceans. A growing body of evidence is showing that ocean acidification impacts growth and developmental rates of marine invertebrates. Here we test the impact of elevated seawater pCO(2) (129 Pa, 1271 μatm) on early development, larval metabolic and feeding rates in a marine model organism, the sea urchin Strongylocentrotus purpuratus. Growth and development was assessed by measuring total body length, body rod length, postoral rod length and posterolateral rod length. Comparing these parameters between treatments suggests that larvae suffer from a developmental delay (by ca. 8%) rather than from the previously postulated reductions in size at comparable developmental stages. Further, we found maximum increases in respiration rates of +100% under elevated pCO(2), while body length corrected feeding rates did not differ between larvae from both treatments. Calculating scope for growth illustrates that larvae raised under high pCO(2) spent an average of 39 to 45% of the available energy for somatic growth, while control larvae could allocate between 78 and 80% of the available energy into growth processes. Our results highlight the importance of defining a standard frame of reference when comparing a given parameter between treatments, as observed differences can be easily due to comparison of different larval ages with their specific set of biological characters. Copyright © 2011 Elsevier Inc. All rights reserved.

Mother-Child Interaction and Resilience in Children with Early Developmental Risk

PubMed Central

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

Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

PubMed

Battaglia, A; Bianchini, E; Carey, J C

1999-01-01

The Consensus Conference of the American College of Medical Genetics has established guidelines regarding the evaluation of patients with mental retardation (MR) [Curry et al., Am. J. Med. Genet. 72:468-477, 1997]. They emphasized the high diagnostic utility of cytogenetic studies and of neuroimaging in certain clinical settings. However, data on the diagnostic yield of these studies in well-characterized populations of individuals with MR are scant. Majnemer and Shevell [J. Pediatr. 127:193-199, 1995] attained a diagnostic yield of 63%. However, this study included only 60 patients and the classification included pathogenetic and causal groups. The Stella Maris Institute has evaluated systematically patients with developmental delay (DD)/MR and performed various laboratory studies and neuroimaging in almost all patients. We report a retrospective analysis of the diagnostic yield of 120 consecutive patients observed at our Institute during the first 6 months of 1996. There were 77 males and 43 females; 47 were mildly delayed (IQ 70-50), 31 were moderately delayed (IQ 50-35), and 42 were severely delayed (IQ 35-20). Diagnostic studies (history, physical examination, standard cytogenetics, fragile X testing, molecular studies, electroencephalography, electromyography, nerve conduction studies, neuroimaging, and metabolic screening tests) yielded a causal diagnosis in 50 (41.6%) and a pathogenetic diagnosis in 47 (39.2%) of the 120 patients. Causal categories included chromosomal abnormalities (14), Fra(X) syndromes (4), known MCA/MR syndromes (19), fetal environmental syndromes (1), neurometabolic (3) disorders, neurocutaneous (3) disorders, hypoxic-ischemic encephalopathy (3), other encephalopathies (1), and congenital bilateral perisylvian syndrome (2). Pathogenetic categories included idiopathic MCA/MR syndromes (35), epileptic syndromes (10), and isolated lissencephaly sequence (2). Diagnostic yield did not differ across categories and degree of DD. Our results

Original Article: Preeclampsia, Placental Insufficiency and Autism Spectrum Disorder or Developmental Delay

PubMed Central

Walker, Cheryl K.; Krakowiak, Paula; Baker, Alice; Hansen, Robin L.; Ozonoff, Sally; Hertz-Picciotto, Irva

2014-01-01

Importance Increasing evidence suggests that autism spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal development. Preeclampsia may trigger aberrant neurodevelopment through placental, maternal and fetal physiologic mechanisms. Objective To determine whether preeclampsia is associated with ASD and/or DD. Design, Setting and Participants The CHildhhood Autism Risks from Genetics and the Environment (CHARGE) Study is a population-based case-control investigation of ASD and/or DD origins. Children from 20 California counties aged 24-60 months at the time of recruitment, and living in catchment areas with a biologic parent fluent in English or Spanish were enrolled from January 29, 2003 through April 7, 2011. Children with ASD (n=517) and DD (n=194) were recruited through the California Department of Developmental Services, the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute and referrals. Controls with typical development (TD) controls (n=350) were randomly selected from birth records and frequency-matched on age, sex, and broad geographic region. Physicians diagnosing preeclampsia were masked to neurodevelopmental outcome, and those assessing neurodevelopmental function were masked to preeclampsia status. Exposure Preeclampsia and placental insufficiency were self-reported and abstracted from medical records. Main Outcome Measure The Autism Diagnostic Observation Schedule and Autism Diagnostic Interview–Revised were used to confirm ASD, whereas children with DD and TD were confirmed by Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales and were free of autistic symptoms. Hypotheses were formulated before data collection. Results Children with ASD were twice as likely to have been exposed in utero to preeclampsia as controls with TD after adjustment for maternal educational level, parity, and prepregnancy obesity (adjusted odds ratio, 2.36; 95% CI, 1.18-4.68); risk increased with

International adoption: a health and developmental prospective.

PubMed

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.

WHO Parents Skills Training (PST) programme for children with developmental disorders and delays delivered by Family Volunteers in rural Pakistan: study protocol for effectiveness implementation hybrid cluster randomized controlled trial.

PubMed

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

The Effects of, Lined Paper, Prompting, Tracing, Rewards, and Fading to Increase Handwriting Performance and Legibility with Two Preschool Special Education Students Diagnosed with Developmental Delays, and Fine Motor Deficits

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…

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed

Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H

2016-05-01

We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. We identified causative mutations in 71/400 patients (18%). The diagnostic rate was highest among those with seizure onset within the first two months of life (39%), although overall it was similar in those with and without seizures. The most frequently mutated gene was SCN2A (11 patients, 3%). Other recurrently mutated genes included CDKL5, KCNQ2, SCN8A (six patients each), FOXG1, MECP2, SCN1A, STXBP1 (five patients each), KCNT1, PCDH19, TCF4 (three patients each) and ATP1A3, PRRT2 and SLC9A6 (two patients each). Mutations in EHMT1, GABRB3, LGI1, MBD5, PIGA, UBE3A and ZEB2 were each found in single patients. We found mutations in a number of genes in patients where either the electroclinical features or dysmorphic phenotypes were atypical for the identified gene. In only 11 cases (15%) had the clinician sufficient certainty to specify the mutated gene as the likely cause before testing. Our data demonstrate the considerable utility of a gene panel approach in the diagnosis of patients with early-onset epilepsy and severe developmental delay disorders., They provide further insights into the phenotypic spectrum and genotype-phenotype correlations for a number of the causative genes and emphasise the value of exon-level copy number testing in their analysis. 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/

Reduced Cortical Complexity in Children with Prader-Willi Syndrome and Its Association with Cognitive Impairment and Developmental Delay

PubMed Central

Lukoshe, Akvile; Hokken-Koelega, Anita C.; van der Lugt, Aad; White, Tonya

2014-01-01

Background Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. Methods High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite. Results Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. Conclusions These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene

A plea for developmental motor screening in Canadian infants.

PubMed

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.

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

PubMed

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.

Developmental timing differences underlie armor loss across threespine stickleback populations.

PubMed

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.

Nonconvulsive status epilepticus and neurodevelopmental delay.

PubMed

Dirik, Eray; Yiş, Uluç; Hüdaoglu, Orkide; Kurul, Semra

2006-09-01

Nonconvulsive status epilepticus is characterized by continuous or near continuous epileptiform discharges on electroencephalography without overt motor or sensory phenomena. It is a symptomatic condition related to a disease such as epileptic encephalopathy or a metabolic disorder. Children with isolated nonconvulsive status epilepticus rarely present with global neurodevelopmental delay. This report describes an 18-month-old male who presented with global neurodevelopmental delay and decreased alertness in whom electrical status epilepticus during sleep, which is a form of nonconvulsive status epilepticus, was determined. Metabolic investigations and cranial magnetic resonance imaging were normal. He began to achieve developmental milestones after treatment with valproic acid. Although rare, pediatric neurologists and pediatricians must be aware of this condition in making the differential diagnosis of global neurodevelopmental delay and decreased alertness.

Predictors of Developmental Outcomes of High-Risk and Developmentally Delayed Infants and Children Enrolled in a State Early Childhood Intervention Program

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…

Developmental outcomes in Malawian children with retinopathy-positive cerebral malaria.

PubMed

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.

Do baby walkers delay onset of walking in young children?

PubMed

Burrows, Patricia; Griffiths, Peter

2002-11-01

Baby walkers have been a source of considerable controversy. Some people suggest developmental benefit from their use while others focus on the potential harm that stems from accidents and even suggest developmental delay. This mini-review aimed to determine if use of a baby walker delays affects the onset of walking. The Cochrane library, Embase, CINAHL and Medline were searched for randomized controlled trials (RCTs) and cohort studies, which compared the onset of walking in infants who used baby walkers with a group who did not. Two RCTs and two cohort studies were identified and available for consideration. All of the studies examined the effect of infant walkers on the onset of walking. The results of the two RCTs did not demonstrate a significant effect on the onset of walking. The cohort studies suggest that the use of infant walkers delayed the onset of walking in young children and a pooled analysis of the four studies suggested a delay of between 11 and 26 days. Although the quality of the studies was relatively poor these studies lend no support to the argument that walkers aid the development of walking. The significance of a delay of this magnitude is however unclear. Further work is required to determine whether walkers are an independent causal factor in accidents.

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

PubMed

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.

Rapamycin treatment causes developmental delay, pigmentation defects, and gastrointestinal malformation on Xenopus embryogenesis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Moriyama, Yuki; Ohata, Yoshihisa; Mori, Shoko

Research highlights: {yields} Does famous anti-aging drug rapamycin work from the beginning of life? The answer is yes. {yields} This study shows that developmental speed of frog embryo was dose-dependently decreased by rapamycin treatment. {yields} In additions, morphogenetic effects such as less pigmentations and gut malformation are occurred by rapamycin. -- Abstract: Rapamycin is a drug working as an inhibitor of the TOR (target of rapamycin) signaling pathway and influences various life phenomena such as cell growth, proliferation, and life span extension in eukaryote. However, the extent to which rapamycin controls early developmental events of amphibians remains to be understood.more » Here we report an examination of rapamycin effects during Xenopus early development, followed by a confirmation of suppression of TOR downstream kinase S6K by rapamycin treatment. First, we found that developmental speed was declined in dose-dependent manner of rapamycin. Second, black pigment spots located at dorsal and lateral skin in tadpoles were reduced by rapamycin treatment. Moreover, in tadpole stages severe gastrointestinal malformations were observed in rapamycin-treated embryos. Taken together with these results, we conclude that treatment of the drug rapamycin causes enormous influences on early developmental period.« less

[The Mediating Role of Parenting Self-Efficacy on Parenting Stress and Quality of Life in Parents of Young Children With Developmental Delay].

PubMed

Sun, Yi; Wu, Wei-Wen; Lin, Kuan-Chia; Chen, Jo-Lin

2016-10-01

Previous studies indicate that parents of developmentally delayed children have higher parenting stress (PS) and lower quality of life (QoL) than parents of healthy children. Parenting self-efficacy (PSE) may mediate the effects of PS on the QoL of parents. The present study explores the mediating role of PSE between PS and the QoL of parents of developmentally delayed children and compares the differences in several variables between fathers and mothers. A cross-sectional research design was used to study a sample of 70 parent dyads. Instruments used were the Basic Information Form, Parenting Stress Index Short Form (PSI-SF), Parenting Self-efficacy Scale (PSE Scale), and World Health Organization Quality of Life-BREF Taiwan version (WHOQOL-BREF). (1) Participants had a moderate level of QoL, PS, and PSE. (2) The PS of participants was significantly and negatively correlated with both QoL and PSE while their PSE was significantly and positively correlated with QoL. (3) The PSE of the fathers completely mediated the effects of PS on their QoL (p < .001), accounting for 62.2% of observed variation, while the PSE of the mothers partially mediated the effects of PS on their QoL (p < .05), accounting for 59.5% of observed variation. PSE was identified as the mediator between PS and QoL in both fathers and mothers. The PSE of the fathers completely mediated the effect of PS on QoL, while the PSE of the mothers partially mediated the effect of PS on QoL. Further research that explores the factors that affect the QoL of parents and then uses the results to develop interventions to enhance the PSE of parents, especially fathers, is recommended.

Developmental Changes in Cognitive and Behavioural Functioning of Adolescents with Fragile-X Syndrome

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…

The relationship between prelinguistic vocalization and later expressive vocabulary in young children with developmental delay.

PubMed

McCathren, R B; Yoder, P J; Warren, S F

1999-08-01

This study tested the relationship between prelinguistic vocalization and expressive vocabulary 1 year later in young children with mild to moderate developmental delays. Three vocalization variables were tested: rate of all vocalization, rate of vocalizations with consonants, and rate of vocalizations used interactively. The 58 toddlers in the study were 17-34 months old, not sensory impaired, and had Bayley Mental Development Indices (Bayley, 1969; Bayley, 1993) from 35-85. In addition, the children had fewer than 3 words in their expressive vocabularies and during classroom observation each showed at least one instance of intentional prelinguistic communication before testing. Selected sections of the Communication and Symbolic Behavior Scales procedures (CSBS; Wetherby & Prizant, 1993) were administered at the beginning and at the end of the study. The vocal measures were obtained in the initial CSBS session. One measure of expressive vocabulary was obtained in the CSBS session at the end of the study. In addition, expressive vocabulary was measured in a nonstructured play session at the end of the study. We predicted that rate of vocalization, rate of vocalizations with consonants, and rate of vocalizations used interactively would all be positively related to later expressive vocabulary. The results confirmed the predictions.

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…

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

PubMed Central

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

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…

Rapamycin treatment causes developmental delay, pigmentation defects, and gastrointestinal malformation on Xenopus embryogenesis.

PubMed

Moriyama, Yuki; Ohata, Yoshihisa; Mori, Shoko; Matsukawa, Shinya; Michiue, Tatsuo; Asashima, Makoto; Kuroda, Hiroki

2011-01-28

Rapamycin is a drug working as an inhibitor of the TOR (target of rapamycin) signaling pathway and influences various life phenomena such as cell growth, proliferation, and life span extension in eukaryote. However, the extent to which rapamycin controls early developmental events of amphibians remains to be understood. Here we report an examination of rapamycin effects during Xenopus early development, followed by a confirmation of suppression of TOR downstream kinase S6K by rapamycin treatment. First, we found that developmental speed was declined in dose-dependent manner of rapamycin. Second, black pigment spots located at dorsal and lateral skin in tadpoles were reduced by rapamycin treatment. Moreover, in tadpole stages severe gastrointestinal malformations were observed in rapamycin-treated embryos. Taken together with these results, we conclude that treatment of the drug rapamycin causes enormous influences on early developmental period. Copyright © 2010 Elsevier Inc. All rights reserved.

Developmental milestones among Aboriginal children in Canada

PubMed Central

Findlay, Leanne; Kohen, Dafna; Miller, Anton

2014-01-01

BACKGROUND: Windows of achievement provide age ranges for the attainment of early developmental skills. Group-specific research is warranted given that development may be influenced by social or cultural factors. OBJECTIVES: To examine developmental milestones for Inuit, Métis and off-reserve First Nation children in Canada, based on developmental domains collected from the 2006 Aboriginal Children’s Survey. Sociodemographic and health predictors of risk for developmental delay were also examined. RESULTS: The ranges in which children achieve certain developmental milestones are presented. Gross motor and self-help skills were found to be achieved earlier (across the three Aboriginal groups), whereas language skills were achieved slightly later than in Canadian children in general. Furthermore, health factors (eg, low birth weight, chronic health conditions) were associated with late achievement of developmental outcomes even when sociodemographic characteristics were considered. CONCLUSIONS: Findings suggest that the timing of milestone achievement may differ for Aboriginal children, highlighting the importance of establishing culturally specific norms and standards rather than relying on those derived from general populations. This information may be useful for practitioners and parents interested in identifying the age ranges for development, as well as age ranges indicating potential for developmental risk and opportunities for early intervention among Aboriginal children. PMID:24855426

The reliability and validity of the Greenspan Social Emotional Growth Chart (GSEGC) in Israeli children with developmental delay and autism-A pilot study.

PubMed

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.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

PubMed

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

2017-02-02

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10 -14 ). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Copyright © 2017 American Society of Human Genetics. All rights reserved.

Live imaging of developmental processes in a living meristem of Davidia involucrata (Nyssaceae)

PubMed Central

Jerominek, Markus; Bull-Hereñu, Kester; Arndt, Melanie; Claßen-Bockhoff, Regine

2014-01-01

Morphogenesis in plants is usually reconstructed by scanning electron microscopy and histology of meristematic structures. These techniques are destructive and require many samples to obtain a consecutive series of states. Unfortunately, using this methodology the absolute timing of growth and complete relative initiation of organs remain obscure. To overcome this limitation, an in vivo observational method based on Epi-Illumination Light Microscopy (ELM) was developed and tested with a male inflorescence meristem (floral unit) of the handkerchief tree Davidia involucrata Baill. (Nyssaceae). We asked whether the most basal flowers of this floral unit arise in a basipetal sequence or, alternatively, are delayed in their development. The growing meristem was observed for 30 days, the longest live observation of a meristem achieved to date. The sequence of primordium initiation indicates a later initiation of the most basal flowers and not earlier or simultaneously as SEM images could suggest. D. involucrata exemplarily shows that live-ELM gives new insights into developmental processes of plants. In addition to morphogenetic questions such as the transition from vegetative to reproductive meristems or the absolute timing of ontogenetic processes, this method may also help to quantify cellular growth processes in the context of molecular physiology and developmental genetics studies. PMID:25431576

Live imaging of developmental processes in a living meristem of Davidia involucrata (Nyssaceae).

PubMed

Jerominek, Markus; Bull-Hereñu, Kester; Arndt, Melanie; Claßen-Bockhoff, Regine

2014-01-01

Morphogenesis in plants is usually reconstructed by scanning electron microscopy and histology of meristematic structures. These techniques are destructive and require many samples to obtain a consecutive series of states. Unfortunately, using this methodology the absolute timing of growth and complete relative initiation of organs remain obscure. To overcome this limitation, an in vivo observational method based on Epi-Illumination Light Microscopy (ELM) was developed and tested with a male inflorescence meristem (floral unit) of the handkerchief tree Davidia involucrata Baill. (Nyssaceae). We asked whether the most basal flowers of this floral unit arise in a basipetal sequence or, alternatively, are delayed in their development. The growing meristem was observed for 30 days, the longest live observation of a meristem achieved to date. The sequence of primordium initiation indicates a later initiation of the most basal flowers and not earlier or simultaneously as SEM images could suggest. D. involucrata exemplarily shows that live-ELM gives new insights into developmental processes of plants. In addition to morphogenetic questions such as the transition from vegetative to reproductive meristems or the absolute timing of ontogenetic processes, this method may also help to quantify cellular growth processes in the context of molecular physiology and developmental genetics studies.

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…

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…

[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

PubMed

Hu, Ting; Zhu, Hongmei; Zhang, Zhu; Wang, Jiamin; Liu, Hongqian; Zhang, Xuemei; Zhang, Haixia; Du, Ze; Li, Lingping; Wang, He; Liu, Shanling

2017-04-10

To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV). CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.

Time delays in flight simulator visual displays

NASA Technical Reports Server (NTRS)

Crane, D. F.

1980-01-01

It is pointed out that the effects of delays of less than 100 msec in visual displays on pilot dynamic response and system performance are of particular interest at this time because improvements in the latest computer-generated imagery (CGI) systems are expected to reduce CGI displays delays to this range. Attention is given to data which quantify the effects of display delays in the range of 0-100 msec on system stability and performance, and pilot dynamic response for a particular choice of aircraft dynamics, display, controller, and task. The conventional control system design methods are reviewed, the pilot response data presented, and data for long delays, all suggest lead filter compensation of display delay. Pilot-aircraft system crossover frequency information guides compensation filter specification.

Evaluation Children with Global Developmental Delay: A Prospective Study at Sultan Qaboos University Hospital, Oman

PubMed Central

Koul, Roshan; Al-Yahmedy, Mohammed; Al-Futaisi, Amna

2012-01-01

Objective A prospective study was designed to analyze risk factors and clinical features in children with global developmental delay (GDD) at our hospital. No previous data is available on GDD from Oman. Methods This study was conducted at Sultan Qaboos University Hospital from January 2008 until June 2009. All the children aged 5 years or less, referred with suspected GDD were included in the study. Data was analyzed to determine the underlying etiology. The children with neurodegenerative disease and muscular dystrophy were excluded from the study. Results One hundred and ten children, 59 males (53.6%) and 51 females (46.4%) were included in the study. The mean age at initial evaluation was 13.29 months. An underlying etiology was determined in 79 (71.8%) children. Perinatal history was associated with significant difference in detection of etiology (p=0.039). Abnormal neurological examination was a significant factor in detection of the underlying etiology. Magnetic resonance imaging (MRI) in 105 children and metabolic screening in 93 children were the most frequently ordered investigations. Abnormal imaging, MRI (p=0.001), CT scan (p=0.036) and metabolic screening (p=0.034) were significantly associated with detection of etiology. Conclusion Etiology was detected in 71.8% of the children. MRI was the most significant investigation to detect the abnormality. PMID:23071884

The Efficacy of Parent Counseling and Support Groups on the Stress Levels, Self-Esteem and Degree of Coping of Parents of Developmentally Delayed or Handicapped Children Who Are Involved in an Infant Intervention Program.

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…

Early Identification of Developmental Delays through Surveillance, Screening, and Diagnostic Evaluation

ERIC Educational Resources Information Center

Pizur-Barnekow, Kris; Erickson, Stephanie; Johnston, Mark; Bass, Tamicah; Lucinski, Loraine; Bleuel, Dan

2010-01-01

Developmental and behavioral problems in young children are prevalent in the United States. While young children experience an increased prevalence of such problems, a lack of early identification services continues to exist. Not only are early identification services required under American law, such as the Individual with Disabilities Education…

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

PubMed

Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

2017-09-07

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth. To validate and model the pathogenicity of these CDK10 germline mutations, we generated conditional-knockout mice. Homozygous Cdk10-knockout mice died postnatally with severe growth retardation, skeletal defects, and kidney and lung abnormalities, symptoms that partly resemble the disease's effect in humans. Fibroblasts derived from affected individuals and Cdk10-knockout mouse embryonic fibroblasts (MEFs) proliferated normally; however, Cdk10-knockout MEFs developed longer cilia. Comparative transcriptomic analysis of mutant and wild-type mouse organs revealed lipid metabolic changes consistent with growth impairment and altered ciliogenesis in the absence of CDK10. Our results document the CDK10 loss-of-function phenotype and point to a function for CDK10 in transducing signals received at the primary cilia to sustain embryonic and postnatal development. Copyright © 2017 American Society of Human Genetics. All rights reserved.

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

PubMed

Ortega-Moreno, Laura; Giráldez, Beatriz G; Soto-Insuga, Victor; Losada-Del Pozo, Rebeca; Rodrigo-Moreno, María; Alarcón-Morcillo, Cristina; Sánchez-Martín, Gema; Díaz-Gómez, Esther; Guerrero-López, Rosa; Serratosa, José M

2017-01-01

Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel). Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5%) analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1). Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.

Conditional deletion of Dicer in vascular smooth muscle cells leads to the developmental delay and embryonic mortality

PubMed Central

Pan, Yaoqian; Balazs, Louisa; Tigyi, Gabor; Yue, Junming

2013-01-01

Dicer is a RNAase III enzyme that cleaves double stranded RNA and generates small interfering RNA (siRNA) and microRNA (miRNA). The goal of this study is to examine the role of Dicer and miRNAs in vascular smooth muscle cells (VSMCs). We deleted Dicer in VSMCs of mice, which caused a developmental delay that manifested as early as embryonic day E12.5, leading to embryonic death between E14.5 and E15.5 due to extensive hemorrhage in the liver, brain, and skin. Dicer KO embryos showed dilated blood vessels and a disarray of vascular architecture between E14.5 and E15.5. VSMC proliferation was significantly inhibited in Dicer KOs. The expression of VSMC marker genes were significantly downregulated in Dicer cKO embryos. The vascular structure of the yolk sac and embryo in Dicer KOs was lost to an extent that no blood vessels could be identified after E15.5. Expression of most miRNAs examined was compromised in VSMCs of Dicer KO. Our results indicate that Dicer is required for vascular development and regulates vascular remodeling by modulating VSMC proliferation and differentiation. PMID:21371421

A developmental screening tool for toddlers with multiple domains based on Rasch analysis.

PubMed

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.

Developmental outcomes of Down syndrome and Dandy-Walker malformation

PubMed Central

Love, Kaitlin; Huddleston, Lillie; Olney, Pat; Wrubel, David; Visootsak, Jeannie

2012-01-01

Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy. PMID:22866020

Attainment of gross motor milestones in children with Down syndrome in Kosovo - developmental perspective.

PubMed

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.

Assessing the Developmental Neurotoxicity of 27 ...

EPA Pesticide Factsheets

Assessing the Developmental Neurotoxicity of 27 Organophosphorus Pesticides Using a Zebrafish Behavioral Assay, Waalkes, M., Hunter, D.L., Jarema, K., Mundy, W., and S. Padilla. The U.S. Environmental Protection Agency is evaluating methods to screen and prioritize organophosphorus pesticides for developmental neurotoxicity. As such, we are exploring a behavioral testing paradigm that can assess the effects of sublethal and subteratogenic concentrations of developmental neurotoxicants on zebrafish (Danio rerio). This in vivo assay quantifies the locomotor response to light stimuli under tandem light and dark conditions in a 96-well plate using a video tracking system on 6 day post fertilization zebrafish larvae. Each of twenty-seven organophosphorus pesticides was tested for their developmental neurotoxic potential by exposing zebrafish embryos/larvae to the pesticide at several concentrations (≤ 100 μM nominal concentration) during the first five days of development, followed by 24 hours of depuration and then behavioral testing. Approximately 22% of the chemicals (Acephate, Dichlorvos, Diazoxon, Bensulide,Tribufos, Tebupirimfos) did not produce any behavioral changes after developmental exposure, while many (Malaoxon Fosthiazate, Dimethoate, Dicrotophos, Ethoprop, Malathion, Naled, Diazinon, Methamidophos, Terbufos, Trichlorfon, Phorate, Pirimiphos-methyl, Profenofos, Z-Tetrachlorvinphos, Chlorpyrifos, Coumaphos, Phosmet, Omethoate) produced changes in swi

Application of Sholl analysis to quantify changes in growth and development in rat mammary gland whole mounts.

PubMed

Stanko, Jason P; Easterling, Michael R; Fenton, Suzanne E

2015-07-01

Studies that utilize the rodent mammary gland (MG) as an endpoint for assessing the developmental toxicity of chemical exposures typically employ either basic dimensional measurements or developmental scoring of morphological characteristics as a means to quantify MG development. There are numerous means by which to report these developmental changes, leading to inconsistent translation across laboratories. The Sholl analysis is a method historically used for quantifying neuronal dendritic patterns. The present study describes the use of the Sholl analysis to quantify MG branching characteristics. Using this method, we were able to detect significant differences in branching density in MG of peripubertal female Sprague Dawley rats that had been exposed to vehicle or a potent estrogen. These data suggest the Sholl analysis can be an effective tool for quantitatively measuring an important characteristic of MG development and for examining associations between MG growth and density and adverse effects in the breast. Published by Elsevier Inc.

Norms for developmental milestones using VABS-II and association with anthropometric measures among apparently healthy urban Indian preschool children.

PubMed

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).

Individual development of preschool children-prevalences and determinants of delays in Germany: a cross-sectional study in Southern Bavaria.

PubMed

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

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

PubMed

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.

Recall Memory in Children with Down Syndrome and Typically Developing Peers Matched on Developmental Age

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…

[Association between neontal morbidity, gestational age and developmental delays in moderate to late preterm children].

PubMed

Schonhaut, Luisa; Pérez, Marcela; Muñoz, Sergio

2015-01-01

There is evidence that children born moderate-to-late preterm (MLP) have a higher risk of hospitalisation, neonatal morbidity, and developmental delay (DD). To determine the association between DD, gestational age, and neonatal morbidity in MLP children. A case control study design nested in a cohort of MLP children born between 2006 and 2009 at a private hospital located in the Metropolitan area of Santiago. The children were assessed with the Bayley-III Scales of Infant Development at 8 or 18 months corrected age, or at 30 months of chronological age. Neonatal records were retrospectively reviewed. A multivariate analysis was performed to determine the effect of neonatal morbidity on development. A total of 130 MLP children, 25 cases and 105 controls, were studied. Most of them (83.8%) were hospitalised during the neonatal period. Significant differences between cases and controls regarding maternal age and symptomatic hypoglycaemia were observed (crude OR 3.5, adjusted OR 8.18). It was concluded that the variables that negatively affect the rate of development are male gender, being a twin, and gestational age. Symptomatic hypoglycaemia is the main risk factor for DD, while being a twin, male gender, and gestational age influenced the total development rate obtained. It is essential to develop strategies for prevention, screening, and early management of this metabolic disorder to prevent future DD. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Annotation: Early Intervention and Prevention of Self-Injurious Behaviour Exhibited by Young Children with Developmental Disabilities

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…

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

PubMed

Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

2016-12-15

PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state. Copyright © 2016 Elsevier B.V. All rights reserved.

Delay-correlation landscape reveals characteristic time delays of brain rhythms and heart interactions

PubMed Central

Lin, Aijing; Liu, Kang K. L.; Bartsch, Ronny P.; Ivanov, Plamen Ch.

2016-01-01

Within the framework of ‘Network Physiology’, we ask a fundamental question of how modulations in cardiac dynamics emerge from networked brain–heart interactions. We propose a generalized time-delay approach to identify and quantify dynamical interactions between physiologically relevant brain rhythms and the heart rate. We perform empirical analysis of synchronized continuous EEG and ECG recordings from 34 healthy subjects during night-time sleep. For each pair of brain rhythm and heart interaction, we construct a delay-correlation landscape (DCL) that characterizes how individual brain rhythms are coupled to the heart rate, and how modulations in brain and cardiac dynamics are coordinated in time. We uncover characteristic time delays and an ensemble of specific profiles for the probability distribution of time delays that underly brain–heart interactions. These profiles are consistently observed in all subjects, indicating a universal pattern. Tracking the evolution of DCL across different sleep stages, we find that the ensemble of time-delay profiles changes from one physiologic state to another, indicating a strong association with physiologic state and function. The reported observations provide new insights on neurophysiological regulation of cardiac dynamics, with potential for broad clinical applications. The presented approach allows one to simultaneously capture key elements of dynamic interactions, including characteristic time delays and their time evolution, and can be applied to a range of coupled dynamical systems. PMID:27044991

Delay-correlation landscape reveals characteristic time delays of brain rhythms and heart interactions

NASA Astrophysics Data System (ADS)

Lin, Aijing; Liu, Kang K. L.; Bartsch, Ronny P.; Ivanov, Plamen Ch.

2016-05-01

Within the framework of `Network Physiology', we ask a fundamental question of how modulations in cardiac dynamics emerge from networked brain-heart interactions. We propose a generalized time-delay approach to identify and quantify dynamical interactions between physiologically relevant brain rhythms and the heart rate. We perform empirical analysis of synchronized continuous EEG and ECG recordings from 34 healthy subjects during night-time sleep. For each pair of brain rhythm and heart interaction, we construct a delay-correlation landscape (DCL) that characterizes how individual brain rhythms are coupled to the heart rate, and how modulations in brain and cardiac dynamics are coordinated in time. We uncover characteristic time delays and an ensemble of specific profiles for the probability distribution of time delays that underly brain-heart interactions. These profiles are consistently observed in all subjects, indicating a universal pattern. Tracking the evolution of DCL across different sleep stages, we find that the ensemble of time-delay profiles changes from one physiologic state to another, indicating a strong association with physiologic state and function. The reported observations provide new insights on neurophysiological regulation of cardiac dynamics, with potential for broad clinical applications. The presented approach allows one to simultaneously capture key elements of dynamic interactions, including characteristic time delays and their time evolution, and can be applied to a range of coupled dynamical systems.

Developmental finite element analysis of cichlid pharyngeal jaws: Quantifying the generation of a key innovation.

PubMed

Peterson, Tim; Müller, Gerd B

2018-01-01

Advances in imaging and modeling facilitate the calculation of biomechanical forces in biological specimens. These factors play a significant role during ontogenetic development of cichlid pharyngeal jaws, a key innovation responsible for one of the most prolific species diversifications in recent times. MicroCT imaging of radiopaque-stained vertebrate embryos were used to accurately capture the spatial relationships of the pharyngeal jaw apparatus in two cichlid species (Haplochromis elegans and Amatitlania nigrofasciata) for the purpose of creating a time series of developmental stages using finite element models, which can be used to assess the effects of biomechanical forces present in a system at multiple points of its ontogeny. Changes in muscle vector orientations, bite forces, force on the neurocranium where cartilage originates, and stress on upper pharyngeal jaws are analyzed in a comparative context. In addition, microCT scanning revealed the presence of previously unreported cement glands in A. nigrofasciata. The data obtained provide an underrepresented dimension of information on physical forces present in developmental processes and assist in interpreting the role of developmental dynamics in evolution.

Developmental finite element analysis of cichlid pharyngeal jaws: Quantifying the generation of a key innovation

PubMed Central

Müller, Gerd B.

2018-01-01

Advances in imaging and modeling facilitate the calculation of biomechanical forces in biological specimens. These factors play a significant role during ontogenetic development of cichlid pharyngeal jaws, a key innovation responsible for one of the most prolific species diversifications in recent times. MicroCT imaging of radiopaque-stained vertebrate embryos were used to accurately capture the spatial relationships of the pharyngeal jaw apparatus in two cichlid species (Haplochromis elegans and Amatitlania nigrofasciata) for the purpose of creating a time series of developmental stages using finite element models, which can be used to assess the effects of biomechanical forces present in a system at multiple points of its ontogeny. Changes in muscle vector orientations, bite forces, force on the neurocranium where cartilage originates, and stress on upper pharyngeal jaws are analyzed in a comparative context. In addition, microCT scanning revealed the presence of previously unreported cement glands in A. nigrofasciata. The data obtained provide an underrepresented dimension of information on physical forces present in developmental processes and assist in interpreting the role of developmental dynamics in evolution. PMID:29320528

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

PubMed

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.

Influence of gap-scale disturbance on developmental and successional pathways in Quercus-Pinus stands

Treesearch

T.A. Weber; J.L. Hart; C. Schweitzer; D.C. Dey

2014-01-01

Quercus-Pinus forests of the eastern USA cover millions of hectares and span a variety of ecoregions. Understanding the influence of natural disturbance on developmental and successional pathways is important for managers that wish to sustain Pinus spp. in these mixtures. Quantifying developmental and successional patterns in this...

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…

Use of Developmental Milestones in Pediatric Residency Training and Practice: Time to Rethink the Meaning of the Mean

PubMed Central

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

Quantifying infant physical interactions using sensorized toys in a natural play environment.

PubMed

Goyal, Vatsala; Torres, Wilson; Rai, Roshan; Shofer, Frances; Bogen, Daniel; Bryant, Phillip; Prosser, Laura; Johnson, Michelle J

2017-07-01

Infants with developmental delays must be detected early in their development to minimize the progression of motor and neurological impairments. Our objective is to quantify how sensorized toys in a natural play environment can promote infant-toy physical interactions. We created a hanging elephant toy, equipped with an inertial measurement unit (IMU), a pressure transducer, and multiple feedback sensors, to be a hand-grasping toy. We used a 3 DoF robotic model with inputs from the IMU to calculate multiple kinematic metrics and an equation to calculate haptic metrics from the pressure transducer. Six typical infants were tested in the gym set-up. Three infants interacted with the toy for more than half the trial time. The youngest infant exhibited the largest toy displacement with ΔD = 27.6 cm, while the oldest infant squeezed the toy with the largest mean pressure of 4.5 kPa. More data on on both typical and atypical infants needs to be collected. After testing atypical infants in the SmarToyGym set-up, we will be able to identify interaction metrics that differentiate atypical and typical infants.

Using Signs to Facilitate Vocabulary in Children with Language Delays

ERIC Educational Resources Information Center

Lederer, Susan Hendler; Battaglia, Dana

2015-01-01

The purpose of this article is to explore recommended practices in choosing and using key word signs (i.e., simple single-word gestures for communication) to facilitate first spoken words in hearing children with language delays. Developmental, theoretical, and empirical supports for this practice are discussed. Practical recommendations for…

Intolerance to Delayed Reward in Girls with Multiple Suicide Attempts

ERIC Educational Resources Information Center

Mathias, Charles W.; Dougherty, Donald M.; James, Lisa M.; Richard, Dawn M.; Dawes, Michael A.; Acheson, Ashley; Hill-Kapturczak, Nathalie

2011-01-01

Impulsivity has been conceptualized as influencing the expression of suicidal behavior. Adolescence is a developmental period characterized both by a relatively high rate of suicide attempts and a high level of impulsivity. The current study examined two behavioral measures (delay reward and disinhibition) and one self-report measure of…

Depressive and Anxiety Symptom Trajectories From School-Age Through Young Adulthood in Samples With Autism Spectrum Disorder and Developmental Delay

PubMed Central

Gotham, Katherine; Brunwasser, Steven M.; Lord, Catherine

2015-01-01

Objective To (1) model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD); and (2) assess relationships between internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Method Data were collected between 6-24 years of age in 165 participants (n=109 with ASD; n=56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3-6 months between ages 9-24. Parent-rated Child and Adult Behavior Checklists (CBCL; ABCL) and Developmental Behavior Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant two- and three-way interactions. Results Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post-hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Conclusion Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. While symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. PMID:25901773

Abnormal electroretinogram associated with developmental brain anomalies.

PubMed Central

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

Elevational differences in developmental plasticity determine phenological responses of grasshoppers to recent climate warming.

PubMed

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.

CDC Kerala 7: Effect of early language intervention among children 0-3 y with speech and language delay.

PubMed

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.

Functional performance of school children diagnosed with developmental delay up to two years of age

PubMed Central

Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

2016-01-01

Abstract Objective: To compare the functional performance of students diagnosed with developmental delay (DD) up to two years of age with peers exhibiting typical development. Methods: Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. Results: The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Conclusions: Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems. PMID:26553573

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

PubMed

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.

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

PubMed Central

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

A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

PubMed

Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

2003-05-15

We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa. Copyright 2003 Wiley-Liss, Inc.

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…

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].

PubMed

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.

Developmental outcome, including setback, in young children with severe visual impairment.

PubMed

Dale, Naomi; Sonksen, Patricia

2002-09-01

This study retrospectively investigated the developmental perspective of 69 children (40 males, 29 females) with 'potentially simple' congenital disorders of the peripheral visual system: development was examined in the context of degree of visual impairment. Developmental and visual assessments were carried out at 10 to 16 months (Time 1) and 27 to 54 months of age (Time 2). Participants were grouped according to (1) visual status: profound visual impairment (PVI), severe visual impairment (SVI); (2) developmental status on the Reynell-Zinkin scales. A majority of the sample showed normal development on all subscales (62% Time 1, 57% Time 2). Those with PVI were more developmentally vulnerable than SVI with a greater incidence of (1) uneven developmental profile at Time 1 (48% PVI, 16% SVI); (2) global learning difficulties at Time 2 (37% PVI, 0% SVI); (3) delay on individual subscales at Time 2 (p<0.02 PVI versus SVI); (4) deceleration (verbal comprehension 74% PVI, 24% SVI, sensorimotor understanding 70% PVI, 27% SVI); and (5) severe developmental setback (33% PVI, 7% SVI). Risk factors of visual level, age, and sex for poor developmental outcome in infants with visual impairment were established.

Gesture Production in School vs. Clinical Samples of Children with Developmental Coordination Disorder (DCD) and Typically Developing Children

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.…

Impairment in face processing in autism spectrum disorder: a developmental perspective.

PubMed

Greimel, Ellen; Schulte-Rüther, Martin; Kamp-Becker, Inge; Remschmidt, Helmut; Herpertz-Dahlmann, Beate; Konrad, Kerstin

2014-09-01

Findings on face identity and facial emotion recognition in autism spectrum disorder (ASD) are inconclusive. Moreover, little is known about the developmental trajectory of face processing skills in ASD. Taking a developmental perspective, the aim of this study was to extend previous findings on face processing skills in a sample of adolescents and adults with ASD. N = 38 adolescents and adults (13-49 years) with high-functioning ASD and n = 37 typically developing (TD) control subjects matched for age and IQ participated in the study. Moreover, n = 18 TD children between the ages of 8 and 12 were included to address the question whether face processing skills in ASD follow a delayed developmental pattern. Face processing skills were assessed using computerized tasks of face identity recognition (FR) and identification of facial emotions (IFE). ASD subjects showed impaired performance on several parameters of the FR and IFE task compared to TD control adolescents and adults. Whereas TD adolescents and adults outperformed TD children in both tasks, performance in ASD adolescents and adults was similar to the group of TD children. Within the groups of ASD and control adolescents and adults, no age-related changes in performance were found. Our findings corroborate and extend previous studies showing that ASD is characterised by broad impairments in the ability to process faces. These impairments seem to reflect a developmentally delayed pattern that remains stable throughout adolescence and adulthood.

Evaluation of Cognitive Function of Children with Developmental Disabilities by means of Button-Press Task

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.

Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

PubMed

Cundiff, David K; Harris, William

2006-01-16

Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months-6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1-4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child--no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. The raw foods vegan diet and possibly inherited small stature from the father's side account for their relatively low heights and

Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

PubMed Central

Cundiff, David K; Harris, William

2006-01-01

Background Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. Case presentation The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months – 6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1–4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child – no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. Conclusion The raw foods vegan diet and possibly inherited small stature from the father's side

Screening for attention deficit and hyperactivity disorder, autism spectrum disorder, and developmental delay in Taiwanese aboriginal preschool children

PubMed Central

Chan, Hsiang-Lin; Liu, Wen-Sheng; Hsieh, Yi-Hsuan; Lin, Chiao-Fan; Ling, Tiing-Soon; Huang, Yu-Shu

2016-01-01

Objectives This study aimed to estimate the percentages of attention deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in Taiwanese aboriginal preschool children. Child development level was compared between the two groups. Methods Teachers completed screening questionnaires for ADHD, ASD, and development level for 36- to 72-month-old children in kindergartens in Taiwan. The questionnaire results were compared between the aboriginal and nonaboriginal children. One child psychiatrist then interviewed the aboriginal preschool children to determine if they had ADHD and/or ASD. Results We collected 93 questionnaires from the aboriginal group and 60 from the nonaboriginal group. In the aboriginal group, 5.37% of the children were identified to have ADHD, while 1.08% were identified to have ASD. Significantly fewer aboriginal children had developmental delays for situation comprehension and personal–social development (P=0.012 and 0.002, respectively) than nonaboriginal children. Conclusion Aboriginal children in Taiwan had typical percentages of ADHD and ASD compared to those published in the literature. Aboriginal children showed relative strengths in situation comprehension and personal–social skills. Further studies are required to understand the learning styles of the aboriginal children and to develop effective screening and intervention strategies for ADHD and ASD. PMID:27785028

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

PubMed

Burnside, Rachel D; Pasion, Romela; Mikhail, Fady M; Carroll, Andrew J; Robin, Nathaniel H; Youngs, Erin L; Gadi, Inder K; Keitges, Elizabeth; Jaswaney, Vikram L; Papenhausen, Peter R; Potluri, Venkateswara R; Risheg, Hiba; Rush, Brooke; Smith, Janice L; Schwartz, Stuart; Tepperberg, James H; Butler, Merlin G

2011-10-01

The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.

An Evaluation of Constant Time Delay and Simultaneous Prompting Procedures in Skill Acquisition for Young Children with Autism

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…

Developmental Screening of Refugees: A Qualitative Study

PubMed Central

Moore, Jessica A.; Welch, Therese R.; Halterman, Jill S.; Hyman, Susan L.

2016-01-01

BACKGROUND AND OBJECTIVES: Refugee children are at high developmental risk due to dislocation and deprivation. Standardized developmental screening in this diverse population is challenging. We used the Health Belief Model to guide key-informant interviews and focus groups with medical interpreters, health care providers, community collaborators, and refugee parents to explore key elements needed for developmental screening. Cultural and community-specific values and practices related to child development and barriers and facilitators to screening were examined. METHODS: We conducted 19 interviews and 2 focus groups involving 16 Bhutanese-Nepali, Burmese, Iraqi, and Somali participants, 7 community collaborators, and 6 providers from the Center for Refugee Health in Rochester, New York. Subjects were identified through purposive sampling until data saturation. Interviews were recorded, coded, and analyzed using a qualitative framework technique. RESULTS: Twenty-one themes in 4 domains were identified: values/beliefs about development/disability, practices around development/disability, the refugee experience, and feedback specific to the Parents’ Evaluation of Developmental Status screen. Most participants denied a word for “development” in their primary language and reported limited awareness of developmental milestones. Concern was unlikely unless speech or behavior problems were present. Physical disabilities were recognized but not seen as problematic. Perceived barriers to identification of delays included limited education, poor healthcare knowledge, language, and traditional healing practices. Facilitators included community navigators, trust in health care providers, in-person interpretation, visual supports, and education about child development. CONCLUSIONS: Refugee perspectives on child development may influence a parent’s recognition of and response to developmental concerns. Despite challenges, standardized screening was supported. PMID

Developmental Screening of Refugees: A Qualitative Study.

PubMed

Kroening, Abigail L H; Moore, Jessica A; Welch, Therese R; Halterman, Jill S; Hyman, Susan L

2016-09-01

Refugee children are at high developmental risk due to dislocation and deprivation. Standardized developmental screening in this diverse population is challenging. We used the Health Belief Model to guide key-informant interviews and focus groups with medical interpreters, health care providers, community collaborators, and refugee parents to explore key elements needed for developmental screening. Cultural and community-specific values and practices related to child development and barriers and facilitators to screening were examined. We conducted 19 interviews and 2 focus groups involving 16 Bhutanese-Nepali, Burmese, Iraqi, and Somali participants, 7 community collaborators, and 6 providers from the Center for Refugee Health in Rochester, New York. Subjects were identified through purposive sampling until data saturation. Interviews were recorded, coded, and analyzed using a qualitative framework technique. Twenty-one themes in 4 domains were identified: values/beliefs about development/disability, practices around development/disability, the refugee experience, and feedback specific to the Parents' Evaluation of Developmental Status screen. Most participants denied a word for "development" in their primary language and reported limited awareness of developmental milestones. Concern was unlikely unless speech or behavior problems were present. Physical disabilities were recognized but not seen as problematic. Perceived barriers to identification of delays included limited education, poor healthcare knowledge, language, and traditional healing practices. Facilitators included community navigators, trust in health care providers, in-person interpretation, visual supports, and education about child development. Refugee perspectives on child development may influence a parent's recognition of and response to developmental concerns. Despite challenges, standardized screening was supported. Copyright © 2016 by the American Academy of Pediatrics.

Depressive and anxiety symptom trajectories from school age through young adulthood in samples with autism spectrum disorder and developmental delay.

PubMed

Gotham, Katherine; Brunwasser, Steven M; Lord, Catherine

2015-05-01

The objectives of this study were to model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD), and to assess relationships among internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Data were collected between ages 6 and 24 years in 165 participants (n = 109 with ASD; n = 56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3 to 6 months between ages 9 and 24 years. Parent-rated Child Behavior Checklist (CBCL), Adult Behavior Checklist (ABCL), and Developmental Behaviour Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant 2- and 3-way interactions. Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. Although symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by

Impact of a "No Mobile Device" Policy on Developmental Surveillance in a Pediatric Clinic.

PubMed

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.

Stabilizing Developmental Language Trajectories in Infants/Toddlers: A Preliminary Study

ERIC Educational Resources Information Center

Marvin, Christine; Kuhn, Miriam; Knoche, Lisa

2013-01-01

Parents' interactions with their children can have influential effects on children's language outcomes. Special supports may be needed however, when young children live in poverty and show developmental delays early in life. This study analyzed data for a subset of children enrolled in Early Head Start (EHS) programs and participating in a…

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

PubMed

López-Pisón, J; García-Jiménez, M C; Monge-Galindo, L; Lafuente-Hidalgo, M; Pérez-Delgado, R; García-Oguiza, A; Peña-Segura, J L

2014-09-01

Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

[Functional performance of school children diagnosed with developmental delay up to two years of age].

PubMed

Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

2016-01-01

To compare the functional performance of students diagnosed with developmental delay (DD) up to two years of age with peers exhibiting typical development. Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

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…

Systemic delay propagation in the US airport network

PubMed Central

Fleurquin, Pablo; Ramasco, José J.; Eguiluz, Victor M.

2013-01-01

Technologically driven transport systems are characterized by a networked structure connecting operation centers and by a dynamics ruled by pre-established schedules. Schedules impose serious constraints on the timing of the operations, condition the allocation of resources and define a baseline to assess system performance. Here we study the performance of an air transportation system in terms of delays. Technical, operational or meteorological issues affecting some flights give rise to primary delays. When operations continue, such delays can propagate, magnify and eventually involve a significant part of the network. We define metrics able to quantify the level of network congestion and introduce a model that reproduces the delay propagation patterns observed in the U.S. performance data. Our results indicate that there is a non-negligible risk of systemic instability even under normal operating conditions. We also identify passenger and crew connectivity as the most relevant internal factor contributing to delay spreading. PMID:23362459

A developmental perspective on congenital muscular torticollis: a critical appraisal of the evidence.

PubMed

Tessmer, Angela; Mooney, Paula; Pelland, Lucie

2010-01-01

The aims of this review were to (1) identify and evaluate research evidence regarding the developmental outcomes of infants with congenital muscular torticollis (CMT) and (2) critically appraise and compare the outcomes of interventions targeting neck muscle extensibility and strength with those considering neck muscle function within the broader context of global infant development. An association between CMT and early developmental delay is supported by levels 3B, 4, and 5 evidence; no evidence was found of longer-term influences of CMT on the development of perceptual, cognitive, and motor skills. The effectiveness of passive manual stretching is supported by levels 2A, 3B, 4, and 5 evidence; no clear evidence was found of the effectiveness of developmentally supportive interventions. Controlled studies are needed to clarify the developmental consequences of CMT.

Quantifying full phenological event distributions reveals simultaneous advances, temporal stability and delays in spring and autumn migration timing in long-distance migratory birds.

PubMed

Miles, Will T S; Bolton, Mark; Davis, Peter; Dennis, Roy; Broad, Roger; Robertson, Iain; Riddiford, Nick J; Harvey, Paul V; Riddington, Roger; Shaw, Deryk N; Parnaby, David; Reid, Jane M

2017-04-01

Phenological changes in key seasonally expressed life-history traits occurring across periods of climatic and environmental change can cause temporal mismatches between interacting species, and thereby impact population and community dynamics. However, studies quantifying long-term phenological changes have commonly only measured variation occurring in spring, measured as the first or mean dates on which focal traits or events were observed. Few studies have considered seasonally paired events spanning spring and autumn or tested the key assumption that single convenient metrics accurately capture entire event distributions. We used 60 years (1955-2014) of daily bird migration census data from Fair Isle, Scotland, to comprehensively quantify the degree to which the full distributions of spring and autumn migration timing of 13 species of long-distance migratory bird changed across a period of substantial climatic and environmental change. In most species, mean spring and autumn migration dates changed little. However, the early migration phase (≤10th percentile date) commonly got earlier, while the late migration phase (≥90th percentile date) commonly got later. Consequently, species' total migration durations typically lengthened across years. Spring and autumn migration phenologies were not consistently correlated within or between years within species and hence were not tightly coupled. Furthermore, different metrics quantifying different aspects of migration phenology within seasons were not strongly cross-correlated, meaning that no single metric adequately described the full pattern of phenological change. These analyses therefore reveal complex patterns of simultaneous advancement, temporal stability and delay in spring and autumn migration phenologies, altering species' life-history structures. Additionally, they demonstrate that this complexity is only revealed if multiple metrics encompassing entire seasonal event distributions, rather than single

Developmental Risk and Goodness of Fit in the Mother-Child Relationship: Links to Parenting Stress and Children's Behaviour Problems.

PubMed

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.

Trajectories and predictors of developmental skills in healthy twins up to 24 months of age.

PubMed

Nan, Cassandra; Piek, Jan; Warner, Claire; Mellers, Diane; Krone, Ruth Elisabeth; Barrett, Timothy; Zeegers, Maurice P

2013-12-01

Low birth weight and low 5-min Apgar scores have been associated with developmental delay, while older maternal age is a protective factor. Little is known about trajectories and predictors of developmental skills in infant twins, who are generally born with lower birth weights, lower Apgar scores and to older mothers. Developmental skills were assessed at 3, 6, 9, 12, 18 and 24 months using the Ages and Stages Questionnaires in 152 twins from the Birmingham Registry for Twin and Heritability Studies. Multilevel spline and linear regression models (adjusted for gestational age, gender, maternal age) were used to estimate developmental trajectories and the associations between birth weight, maternal age and Apgar scores on developmental skills. Twins performed worse than singletons on communication, gross motor, fine motor, problem solving and personal-social skills (p < 0.001). Twins caught up around 6 months (score within -1 standard deviation of norm), except on gross motor skills, which did not catch up until after the age of 12 months. A one-year increase in maternal age was significantly associated with decreases in gross motor and personal-social z-scores of up to -0.09, whereas one unit increases in Apgar score increased z-scores up to 0.90 (p < 0.01). Healthy twins should be considered at a higher risk for developmental delay. Whether these results are comparable to preterm singletons, or whether there are twin-specific issues involved, should be further investigated in a study that uses a matched singleton control group. Copyright © 2013 Elsevier Inc. All rights reserved.

Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.

PubMed

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.

An Examination of Specific Child Behavior Problems as Predictors of Parenting Stress among Families of Children with Pervasive Developmental Disorders

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…

Age differences in future orientation and delay discounting.

PubMed

Steinberg, Laurence; Graham, Sandra; O'Brien, Lia; Woolard, Jennifer; Cauffman, Elizabeth; Banich, Marie

2009-01-01

Age differences in future orientation are examined in a sample of 935 individuals between 10 and 30 years using a delay discounting task as well as a new self-report measure. Younger adolescents consistently demonstrate a weaker orientation to the future than do individuals aged 16 and older, as reflected in their greater willingness to accept a smaller reward delivered sooner than a larger one that is delayed, and in their characterizations of themselves as less concerned about the future and less likely to anticipate the consequences of their decisions. Planning ahead, in contrast, continues to develop into young adulthood. Future studies should distinguish between future orientation and impulse control, which may have different neural underpinnings and follow different developmental timetables.

Individual Differences in Maternal Stress, Child Temperament and Mother-Child Interaction with Developmentally Delayed Preschoolers.

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…

The Biggest Mover: Empowering Students with Intellectual and Developmental Delays and Physical Challenges

ERIC Educational Resources Information Center

Brown, Michelle J.

2018-01-01

The Biggest Mover Program, an educational program to improve daily exercise and healthy eating was developed to address the learning needs of students with intellectual and developmental disabilities and physical challenges. The program was part of a three-part program to improve the knowledge of students, staff, and teachers through the use of…

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

PubMed

Al-Amri, Ahmed; Saegh, Abeer Al; Al-Mamari, Watfa; El-Asrag, Mohammed E; Ivorra, Jose L; Cardno, Alastair G; Inglehearn, Chris F; Clapcote, Steven J; Ali, Manir

2016-07-01

Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ score of less than 70 and difficulties associated with limitations in cognitive function and adaptive behavior. The condition can be inherited or caused by environmental factors. The genetic forms are heterogeneous, with mutations in over 500 known genes shown to cause the disorder. We report a consanguineous Omani family in which multiple individuals have ID and developmental delay together with some variably present features including short stature, microcephaly, moderate facial dysmorphism, and congenital malformations of the toes or hands. Homozygosity mapping combined with whole exome next generation sequencing identified a novel homozygous single base pair deletion in TUSC3, c.222delA, p.R74 fs. The mutation segregates with the disease phenotype in a recessive manner and is absent in 60,706 unrelated individuals from various disease-specific and population genetic studies. TUSC3 mutations have been previously identified as causing either syndromic or non-syndromic ID in patients from France, Italy, Iran and Pakistan. This paper supports the previous clinical descriptions of the condition caused by TUSC3 mutations and describes the seventh family with mutations in this gene, thus contributing to the genetic spectrum of mutations. This is the first report of a family from the Arabian peninsula with this form of ID. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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…

Vocalization of Emotional and Social Expressions in Korean-Speaking Toddlers with Autism Spectrum Disorder and Those with Developmental Delay.

PubMed

Lee, Kyung Sook; Shin, Yee Jin; Yoo, Hee Jeong; Lee, Gui Jong; Ryu, Jeong; Son, Oweol; Cho, Sook Whan

2018-05-01

This study aimed to examine the development of socializing and emotional expressions through vocalizations and joint attention (JA) behaviors in Korean-speaking children with autism spectrum disorder (ASD), compared to those with developmental delay (DD). Video samples were collected from 28 toddlers with ASD and 18 age-matched toddlers with DD, and vocalizations were each coded in detail for the purpose of this retrospective research. In addition to some statistical analysis, Computerized Language Analysis was conducted to obtain the final results. Although they produced a higher number of vocalizations than the DD group, the ASD group did not engage in emotional or social interactions with their caretakers, whereas the DD group did. The children with ASD used more atypical vocalizations and socially unengaged vocalizations than the children with DD did. JA using vocalizations in the ASD group, in particular, was largely dyadic, with triadic types occurring at a significantly lower frequency than those in the DD group. Results from this study indicate the importance of assessing early vocalizations in toddlers with ASD, suggesting that some common symptoms of ASD, such as lack of typical, emotional, and social functions in early vocalizations, could be used to develop screening and intervention programs related to ASD. © Copyright: Yonsei University College of Medicine 2018.

Benign, Pathogenic and Copy Number Variations of Unknown Clinical Significance in Patients with Congenital Malformations and Developmental Delay.

PubMed

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).

Chronic Overeating without Obesity in Children with Developmental Disabilities: Description of a New Syndrome.

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)

A Transagency Approach to Enabling Access to Parent-Based Intervention for Language Delay in Areas of Social Disadvantage: A Service Evaluation

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,…

Developmental Risk and Goodness of Fit in the Mother–Child Relationship: Links to Parenting Stress and Children’s Behaviour Problems

PubMed Central

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

Sources of delayed provision of neurosurgical care in a rural kenyan setting

PubMed Central

Mansouri, Alireza; Chan, Vivien; Njaramba, Veronica; Cadotte, David W.; Albright, A. Leland; Bernstein, Mark

2015-01-01

Background: Delay to neurosurgical care can result in significant morbidity and mortality. In this study, we aim to identify and quantify the sources of delay to neurosurgical consultation and care at a rural setting in Kenya. Methods: A mixed-methods, cross-sectional analysis of all patients admitted to the neurosurgical department at Kijabe Hospital (KH) was conducted: A retrospective analysis of admissions from October 1 to December 31, 2013 and a prospective analysis from June 2 to June 20, 2014. Sources of delay were categorized and quantified. The Kruskal–Wallis test was used to identify an overall significant difference among diagnoses. The Mann–Whitney U test was used for pairwise comparisons within groups; the Bonferroni correction was applied to the alpha level of significance (0.05) according to the number of comparisons conducted. IBM SPSS version 22.0 (SPSS, Chicago, IL) was used for statistical analyses. Results: A total of 332 admissions were reviewed (237 retrospective, 95 prospective). The majority was pediatric admissions (median age: 3 months). Hydrocephalus (35%) and neural tube defects (NTDs; 27%) were most common. At least one source of delay was identified in 192 cases (58%); 39 (12%) were affected by multiple sources. Delay in primary care (PCPs), in isolation or combined with other sources, comprised 137 of total (71%); misdiagnosis or incorrect management comprised 46 (34%) of these. Finances contributed to delays in 25 of 95 prospective cases. At a median delay of 49 and 200.5 days, the diagnoses of hydrocephalus and tumors were associated with a significantly longer delay compared with NTDs (P < 0.001). Conclusion: A substantial proportion of patients experienced delays in procuring pediatric neurosurgical care. Improvement in PCP knowledge base, implementation of a triage and referral process, and development of community-based funding strategies can potentially reduce these delays. PMID:25745587

Using time-delay to improve social play skills with peers for children with autism.

PubMed

Liber, Daniella B; Frea, William D; Symon, Jennifer B G

2008-02-01

Interventions that teach social communication and play skills are crucial for the development of children with autism. The time delay procedure is effective in teaching language acquisition, social use of language, discrete behaviors, and chained activities to individuals with autism and developmental delays. In this study, three boys with autism, attending a non-public school, were taught play activities that combined a play sequence with requesting peer assistance, using a graduated time delay procedure. A multiple-baseline across subjects design demonstrated the success of this procedure to teach multiple-step social play sequences. Results indicated an additional gain of an increase in pretend play by one of the participants. Two also demonstrated a generalization of the skills learned through the time delay procedure.

Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study123

PubMed Central

Schmidt, Rebecca J; Tancredi, Daniel J; Ozonoff, Sally; Hansen, Robin L; Hartiala, Jaana; Allayee, Hooman; Schmidt, Linda C; Tassone, Flora; Hertz-Picciotto, Irva

2012-01-01

Background: Periconceptional folate is essential for proper neurodevelopment. Objective: Maternal folic acid intake was examined in relation to the risk of autism spectrum disorder (ASD) and developmental delay (DD). Design: Families enrolled in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study from 2003 to 2009 were included if their child had a diagnosis of ASD (n = 429), DD (n = 130), or typical development (TD; n = 278) confirmed at the University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute by using standardized clinical assessments. Average daily folic acid was quantified for each mother on the basis of dose, brands, and intake frequency of vitamins, supplements, and breakfast cereals reported through structured telephone interviews. Results: Mean (±SEM) folic acid intake was significantly greater for mothers of TD children than for mothers of children with ASD in the first month of pregnancy (P1; 779.0 ± 36.1 and 655.0 ± 28.7 μg, respectively; P < 0.01). A mean daily folic acid intake of ≥600 μg (compared with <600 μg) during P1 was associated with reduced ASD risk (adjusted OR: 0.62; 95% CI: 0.42, 0.92; P = 0.02), and risk estimates decreased with increased folic acid (P-trend = 0.001). The association between folic acid and reduced ASD risk was strongest for mothers and children with MTHFR 677 C>T variant genotypes. A trend toward an association between lower maternal folic acid intake during the 3 mo before pregnancy and DD was observed, but not after adjustment for confounders. Conclusions: Periconceptional folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted. PMID:22648721

Childrearing practices and developmental expectations for Mexican-American mothers and the developmental status of their infants.

PubMed

Kolobe, Thubi H A

2004-05-01

The impact of parent education programs on early intervention programs is not thought to be uniform among children from majority and minority populations. This study examined the relationship between maternal childrearing practices and behaviors and the developmental status of Mexican-American infants. Participants were 62 Mexican-American mother-infant pairs. The infants' mean adjusted age was 12 months (SD=1.7, range=9-14). A third of the children were diagnosed with developmental delays and referred for early intervention by physicians or therapists when the children received their medical follow-up. The group was stratified according to socioeconomic status and acculturation using the Bidimensional Acculturation Scale for Hispanics. This scale uses cutoff points to classify individuals into 3 levels of acculturation. Information on childrearing practices and behaviors was gathered using the Parent Behavior Checklist (PBC), the Home Observation for Measurement of the Environment (HOME) Inventory, and the Nursing Child Assessment Teaching Scale (NCATS). Infants' developmental status was assessed by use of the Bayley Scales of Infant Development II (BSID II). The Pearson product moment correlation, partial correlations, Fisher z transformation, and multiple regression analyses were used to examine the relationship between childrearing practices and parenting behaviors, demographic factors, and infants' developmental status. Maternal nurturing behaviors, parent-child interaction, and quality of the home environment were positively correlated with the infants' cognitive development. Maternal years of education modified the observed relationship between PBC and BSID II scores but not the observed relationship between HOME Inventory and NCATS scores. The childrearing practices, maternal socioeconomic status (SES) and age, and infants' gestational age at birth (GA) explained 45% of the variance in infants' cognitive scores. The infants' GA, maternal SES and age, and

Risks associated with communication delays in infants from underserved South African communities.

PubMed

van der Linde, Jeannie; Swanepoel, De Wet; Glascoe, Frances P; Louw, E M; Hugo, Jannie F M; Vinck, Bart

2015-01-01

For optimal development young children need warm, responsive, enriched and communicative environments for learning social, language, and other skills. Infants and toddlers exposed to psychosocial risk lack enriched environments and may present with communication delays. To investigate the relationship between psychosocial risks and communication delays in infants from underserved communities in South Africa. Primary healthcare facilities in Tshwane district, South Africa. A parent interview and Rossetti Infant Toddler Language Scales were used to collect data from caregivers of 201 infants aged 6–12 months, selected through convenience sampling. Associations between communication delays and risks were determined (Chi-square and Fisher's exact tests). A log-linear model analysis was used to model the simultaneous effect of significant risks on the probability of having communication delays. Communication delays were present in 13% of infants. Infants with two or more siblings, born from mothers aged 18–29 years who own their house, had a 39% chance of presenting with communication delays. Developmental screening and early intervention is important in primary healthcare contexts in South Africa, as a clear relationship has been established between three risk factors and communication delays in infants.

[Evaluation and diagnosis of patients with developmental delay: standardised protocols from the paediatric point of view].

PubMed

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.

Quantitative developmental transcriptomes of the Mediterranean sea urchin Paracentrotus lividus.

PubMed

Gildor, Tsvia; Malik, Assaf; Sher, Noa; Avraham, Linor; Ben-Tabou de-Leon, Smadar

2016-02-01

Embryonic development progresses through the timely activation of thousands of differentially activated genes. Quantitative developmental transcriptomes provide the means to relate global patterns of differentially expressed genes to the emerging body plans they generate. The sea urchin is one of the classic model systems for embryogenesis and the models of its developmental gene regulatory networks are of the most comprehensive of their kind. Thus, the sea urchin embryo is an excellent system for studies of its global developmental transcriptional profiles. Here we produced quantitative developmental transcriptomes of the sea urchin Paracentrotus lividus (P. lividus) at seven developmental stages from the fertilized egg to prism stage. We generated de-novo reference transcriptome and identified 29,817 genes that are expressed at this time period. We annotated and quantified gene expression at the different developmental stages and confirmed the reliability of the expression profiles by QPCR measurement of a subset of genes. The progression of embryo development is reflected in the observed global expression patterns and in our principle component analysis. Our study illuminates the rich patterns of gene expression that participate in sea urchin embryogenesis and provide an essential resource for further studies of the dynamic expression of P. lividus genes. Copyright © 2015 Elsevier B.V. All rights reserved.

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…

Simulated developmental and reproductive impacts on amphibian populations and implications for assessing long-term effects

EPA Science Inventory

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...

Analyzing Impact Factors of Airport Taxiing Delay Based on Ads-B Data

NASA Astrophysics Data System (ADS)

Li, J.; Wang, X.; Xu, Y.; Li, Q.; He, C.; Li, Y.

2017-09-01

Identifying the factors that cause taxiing delay on airports is a prerequisite for optimizing aircraft taxiing schemes, and helps improve the efficiency of taxiing system. Few of current studies had quantified the potential influencing factors and further investigated their intrinsic relationship. In view of these problems, this paper uses ADS-B data to calculate taxiing delay time by restoring taxiing route and identifying key status points, and further analyzes the impact factors of airport taxiing delay by investigating the relationship between delay time and environmental data such as weather, wind, visibility etc. The case study in Guangzhou Baiyun Airport validates the effectiveness of the proposed method.

Interdisciplinary Early Intervention for Developmentally Delayed Infants and Young Children: A Family-Oriented Approach.

ERIC Educational Resources Information Center

Russell, Fay F.; And Others

Intended to help developers of early intervention programs for children with developmental disabilities, the book provides philosophy, methods, and procedures based on experiences of the Child Development Center of the University of Tennessee Center for Health Sciences. The first section presents a program description including information on…

Bone development in laboratory mammals used in developmental toxicity studies.

PubMed

DeSesso, John M; Scialli, Anthony R

2018-06-19

Evaluation of the skeleton in laboratory animals is a standard component of developmental toxicology testing. Standard methods of performing the evaluation have been established, and modification of the evaluation using imaging technologies is under development. The embryology of the rodent, rabbit, and primate skeleton has been characterized in detail and summarized herein. The rich literature on variations and malformations in skeletal development that can occur in the offspring of normal animals and animals exposed to test articles in toxicology studies is reviewed. These perturbations of skeletal development include ossification delays, alterations in number, shape, and size of ossification centers, and alterations in numbers of ribs and vertebrae. Because the skeleton is undergoing developmental changes at the time fetuses are evaluated in most study designs, transient delays in development can produce apparent findings of abnormal skeletal structure. The determination of whether a finding represents a permanent change in embryo development with adverse consequences for the organism is important in study interpretation. Knowledge of embryological processes and schedules can assist in interpretation of skeletal findings. © 2018 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.

A developmental-psychobiological approach to developmental neuropsychology.

PubMed

Michel, G F

2001-01-01

Although both developmental psychobiology and developmental neuropsychology examine the interface between biological and psychological processes, they differ in conceptual framework. This article argues for the incorporation into developmental neuropsychology of certain aspects of the conceptual framework of developmental psychobiology. Three principles of dynamic psychobiological interaction are described and applied to four issues in neuropsychology (handedness, sex differences in behavior, critical periods, and modularity of structure-function relations). Then, it is proposed that developmental psychobiology can make four direct contributions to developmental neuropsychology. Finally, it is argued that the value of the conceptual framework provided by developmental psychobiology depends, in part, on how well it translates into procedures that can be applied in the clinical settings of the developmental neuropsychologist.

Children at risk for developmental delay can be recognised by stunting, being underweight, ill health, little maternal schooling or high gravidity.

PubMed

Abubakar, Amina; Holding, Penny; Van de Vijver, Fons J R; Newton, Charles; Van Baar, Anneloes

2010-06-01

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. 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 collected through parental report using a locally developed checklist. We tested for the unique and combined influence of little maternal schooling and higher gravidity, anthropometric status (being underweight and stunting) and poor health on the level of developmental achievement and the rate of acquisition of developmental milestones. A model with all five predictors showed a good fit to the data (chi(2)(21, N = 85) = 23.00, p = .33). Maternal schooling and gravidity and child's stunting were found to predict the rate of developmental achievements (beta = .24, beta = .31, and beta = .41, respectively). Being underweight, ill-health, stunting and gravidity predicted initial developmental status (beta = -.26, beta = -.27, beta = -.43, and beta = -.27). Slow rates of developmental achievement can be predicted using these easy-to-administer measures and the strongest relationship with risk was based on a combination of all measures.

Early developmental characteristics and features of major depressive disorder among child psychiatric patients in Hungary.

PubMed

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.

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

PubMed

Weyhrauch, Derek L; Ye, Dan; Boczek, Nicole J; Tester, David J; Gavrilova, Ralitza H; Patterson, Marc C; Wieben, Eric D; Ackerman, Michael J

2016-02-01

A 4-year-old boy born at 37 weeks' gestation with intrauterine growth retardation presented with developmental delay with pronounced language and gross motor delay, axial hypotonia, and dynamic hypertonia of the extremities. Investigations including the Minnesota Newborn Screen, thyroid stimulating hormone/thyroxin, and inborn errors of metabolism screening were negative. Cerebral magnetic resonance imaging and spectroscopy were normal. Genetic testing was negative for coagulopathy, Smith-Lemli-Opitz, fragile X, and Prader-Willi/Angelman syndromes. Whole genome array analysis was unremarkable. Whole exome sequencing was performed through a commercial testing laboratory to elucidate the underlying etiology for the child's presentation. A de novo mutation was hypothesized. In attempt to establish pathogenicity of our candidate variant, cellular electrophysiologic functional analysis of the putative de novo mutation was performed using patch-clamp technology. Whole exome sequencing revealed a p.P1353L variant in the CACNA1A gene, which encodes for the α1-subunit of the brain-specific P/Q-type calcium channel (CaV2.1). This presynaptic high-voltage-gated channel couples neuronal excitation to the vesicular release of neurotransmitter and is implicated in several neurologic disorders. DNA Sanger sequencing confirmed that the de novo mutation was absent in both parents and present in the child only. Electrophysiologic analysis of P1353L-CACNA1A demonstrated near complete loss of function, with a 95% reduction in peak current density. Whole exome sequencing coupled with cellular electrophysiologic functional analysis of a de novoCACNA1A missense mutation has elucidated the probable underlying pathophysiologic mechanism responsible for the child's phenotype. Genetic testing of CACNA1A in patients with congenital hypotonia and developmental delay may be warranted. Copyright © 2016. Published by Elsevier Inc.

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…

Developmental Screening Disparities for Languages Other than English and Spanish.

PubMed

Knuti Rodrigues, Kristine; Hambidge, Simon J; Dickinson, Miriam; Richardson, Douglas B; Davidson, Arthur J

2016-01-01

Limited English proficiency (LEP) is a known barrier to preventive care. Children from families with LEP face socioeconomic circumstances associated with increased odds of developmental delays and decreased participation in early care and education programs. Little is known about developmental surveillance and screening for children from families who speak languages other than English and Spanish. We sought to compare developmental surveillance and screening at well-child visits (WCVs) by preferred parental language. Using a retrospective cohort (n = 15,320) of children aged 8 to 40 months with ≥2 WCVs from January 1, 2006, to July 1, 2010, in a community health system, 450 children from 3 language groups (150 English, 150 Spanish, and 150 non-English, non-Spanish) were randomly selected. Chart review assessed 2 primary outcomes, developmental surveillance at 100% of WCVs and screened with a standardized developmental screening tool, and also determined whether children were referred for diagnostic developmental evaluation. Bivariate and multiple logistic regression analyses were conducted. Compared to the English-speaking group, the non-English, non-Spanish group had lower odds of receiving developmental surveillance at 100% of WCVs (odds ratio, 0.3; 95% confidence interval, 0.2, 0.5) and of being screened with a standardized developmental screening tool (odds ratio, 0.1; 95% confidence interval, 0.1, 0.2). There were no differences between the English- and Spanish-speaking groups. Though underpowered, no differences were found for referral. Improved developmental surveillance and screening are needed for children from families who speak languages other than English and Spanish. Lack of statistically significant differences between English- and Spanish-speaking groups suggests that improved translation and interpretation resources may decrease disparities. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

The Role of Developmental Screening Practices in Early Diagnosis of Autism Spectrum Disorders: An Analysis of All-Payer Claims Data in New Hampshire

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…

Developmental Coordination Disorder and Reported Enjoyment of Physical Education in Children

ERIC Educational Resources Information Center

Cairney, John; Hay, John; Mandigo, James; Wade, Terrance; Faught, Brent E.; Flouris, Andreas

2007-01-01

Children with developmental coordination disorder (DCD) are less likely to enjoy participating in physical education (PE) than children without motor coordination difficulties. However, no studies have attempted to quantify this relationship or examine potentially modifiable mediating variables. Using a large sample (N = 590) of children (aged 9…

Resilient parenting of preschool children at developmental risk.

PubMed

Ellingsen, R; Baker, B L; Blacher, J; Crnic, K

2014-07-01

Given the great benefits of effective parenting to child development under normal circumstances, and the even greater benefits in the face of risk, it is important to understand why some parents manage to be effective in their interactions with their child despite facing formidable challenges. This study examined factors that promoted effective parenting in the presence of child developmental delay, high child behaviour problems, and low family income. Data were obtained from 232 families at child age 3 and 5 years. Using an adapted ABCX model, we examined three risk domains (child developmental delay, child behaviour problems, and low family income) and three protective factors (mother's education, health, and optimism). The outcome of interest was positive parenting as coded from mother-child interactions. Levels of positive parenting differed across levels of risk. Education and optimism appeared to be protective factors for positive parenting at ages 3 and 5, and health appeared to be an additional protective factor at age 5. There was an interaction between risk and education at age 3; mothers with higher education engaged in more positive parenting at higher levels of risk than did mothers with less education. There was also an interaction between risk and optimism at age 3; mothers with higher optimism engaged in more positive parenting at lower levels of risk than did mothers with less optimism. The risk index did not predict change in positive parenting from age 3-5, but the protective factor of maternal health predicted positive changes. This study examined factors leading to positive parenting in the face of risk, a topic that has received less attention in the literature on disability. Limitations, future directions, and implications for intervention are discussed. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Holistic face training enhances face processing in developmental prosopagnosia

PubMed Central

Cohan, Sarah; Nakayama, Ken

2014-01-01

Prosopagnosia has largely been regarded as an untreatable disorder. However, recent case studies using cognitive training have shown that it is possible to enhance face recognition abilities in individuals with developmental prosopagnosia. Our goal was to determine if this approach could be effective in a larger population of developmental prosopagnosics. We trained 24 developmental prosopagnosics using a 3-week online face-training program targeting holistic face processing. Twelve subjects with developmental prosopagnosia were assessed before and after training, and the other 12 were assessed before and after a waiting period, they then performed the training, and were then assessed again. The assessments included measures of front-view face discrimination, face discrimination with view-point changes, measures of holistic face processing, and a 5-day diary to quantify potential real-world improvements. Compared with the waiting period, developmental prosopagnosics showed moderate but significant overall training-related improvements on measures of front-view face discrimination. Those who reached the more difficult levels of training (‘better’ trainees) showed the strongest improvements in front-view face discrimination and showed significantly increased holistic face processing to the point of being similar to that of unimpaired control subjects. Despite challenges in characterizing developmental prosopagnosics’ everyday face recognition and potential biases in self-report, results also showed modest but consistent self-reported diary improvements. In summary, we demonstrate that by using cognitive training that targets holistic processing, it is possible to enhance face perception across a group of developmental prosopagnosics and further suggest that those who improved the most on the training task received the greatest benefits. PMID:24691394

Children at risk for developmental delay can be recognized by stunting, being underweight, ill health, little maternal schooling or high gravidity

PubMed Central

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 2–10 months at recruitment, were involved in a ten-month follow up. Data on developmental outcome were collected through parental report using a locally developed checklist. We tested for the unique and combined influence of little maternal schooling and higher gravidity, anthropometric status (being underweight and stunting) and poor health, on the level of developmental achievement and the rate of acquisition of developmental milestones. Results A model with all five predictors showed a good fit to the data (χ2(21, N = 85) = 23.00, p = .33). Maternal schooling and gravidity, and child’s stunting were found to predict the rate of developmental achievements (β = .24, β = .31, and β = .41, respectively). Being underweight, ill-health, stunting and gravidity predicted initial developmental status (β = −.26, β = −.27, β = −.43, and β = −.27). Conclusions Slow rates of developmental achievement can be predicted using these easy to administer measures and the strongest relationship with risk was based on a combination of all measures. PMID:19951363

Comparison of developmental milestone attainment in early treated HIV-infected infants versus HIV-unexposed infants: a prospective cohort study.

PubMed

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.

Developmental Ethanol Exposure Leads to Dysregulation of Lipid Metabolism and Oxidative Stress in Drosophila

PubMed Central

Logan-Garbisch, Theresa; Bortolazzo, Anthony; Luu, Peter; Ford, Audrey; Do, David; Khodabakhshi, Payam; French, Rachael L.

2014-01-01

Ethanol exposure during development causes an array of developmental abnormalities, both physiological and behavioral. In mammals, these abnormalities are collectively known as fetal alcohol effects (FAE) or fetal alcohol spectrum disorder (FASD). We have established a Drosophila melanogaster model of FASD and have previously shown that developmental ethanol exposure in flies leads to reduced expression of insulin-like peptides (dILPs) and their receptor. In this work, we link that observation to dysregulation of fatty acid metabolism and lipid accumulation. Further, we show that developmental ethanol exposure in Drosophila causes oxidative stress, that this stress is a primary cause of the developmental lethality and delay associated with ethanol exposure, and, finally, that one of the mechanisms by which ethanol increases oxidative stress is through abnormal fatty acid metabolism. These data suggest a previously uncharacterized mechanism by which ethanol causes the symptoms associated with FASD. PMID:25387828

Performance of South African children on the Communication and Symbolic Behavior Scales-Developmental Profile (CSBS DP).

PubMed

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

Mobile social network services for families with children with developmental disabilities.

PubMed

Chou, Li-Der; Lai, Nien-Hwa; Chen, Yen-Wen; Chang, Yao-Jen; Yang, Jyun-Yan; Huang, Lien-Fu; Chiang, Wen-Ling; Chiu, Hung-Yi; Shin, Haw-Yun

2011-07-01

As Internet technologies evolve, their applications have changed various aspects of human life. Here, we attempt to examine their potential impact on services for families with developmentally delayed children. Our research is thus designed to utilize wireless mobile communication technologies, location services, and search technology in an effort to match families of specific needs with potential care providers. Based on the investigation conducted by our counselors, this paper describes a platform for smooth communication between professional communities and families with children with developmental disabilities (CDD). This research also looks into the impact of management of mobile social network services and training on the operation of these services. Interaction opportunities, care, and support to families with CDD are introduced.

Atypical Lexical/Semantic Processing in High-Functioning Autism Spectrum Disorders without Early Language Delay

ERIC Educational Resources Information Center

Kamio, Yoko; Robins, Diana; Kelley, Elizabeth; Swainson, Brook; Fein, Deborah

2007-01-01

Although autism is associated with impaired language functions, the nature of semantic processing in high-functioning pervasive developmental disorders (HFPDD) without a history of early language delay has been debated. In this study, we aimed to examine whether the automatic lexical/semantic aspect of language is impaired or intact in these…

Intolerance to Delayed Reward in Girls with Multiple Suicide Attempts

PubMed Central

Mathias, Charles W.; Dougherty, Donald M.; James, Lisa M.; Richard, Dawn M.; Dawes, Michael A.; Acheson, Ashley; Hill-Kapturczak, Nathalie

2011-01-01

Impulsivity has been conceptualized as influencing the expression of suicidal behavior. Adolescence is a developmental period characterized both by a relatively high rate of suicide attempts and a high level of impulsivity. The current study examined two behavioral measures (delay reward and disinhibition) and one self-report measure of impulsivity among girls with suicide attempt histories. Girls with multiple suicide attempts performed more impulsively on measures of delayed reward, and had higher self-ratings of depression and aggression than girls with either one or no suicide attempts. The multiple attempter girl's preference for immediate gratification may directly increase vulnerability to suicidal acts in the context of distressing states or indirectly increase risk by creating poor life experiences over time. PMID:21463352

Suppression of the vacuolar invertase gene delays senescent sweetening in chipping potatoes.

PubMed

Wiberley-Bradford, Amy E; Bethke, Paul C

2018-01-01

Potato chip processors require potato tubers that meet quality specifications for fried chip color, and color depends largely upon tuber sugar contents. At later times in storage, potatoes accumulate sucrose, glucose, and fructose. This developmental process, senescent sweetening, manifests as a blush of color near the center of the fried chip, becomes more severe with time, and limits the storage period. Vacuolar invertase (VInv) converts sucrose to glucose and fructose and is hypothesized to play a role in senescent sweetening. To test this hypothesis, senescent sweetening was quantified in multiple lines of potato with reduced VInv expression. Chip darkening from senescent sweetening was delayed by about 4 weeks for tubers with reduced VInv expression. A strong positive correlation between frequency of dark chips and tuber hexose content was observed. Tubers with reduced VInv expression had lower hexose to sucrose ratios than controls. VInv activity contributes to reducing sugar accumulation during senescent sweetening. Sucrose breakdown during frying may contribute to chip darkening. Suppressing VInv expression increases the storage period of the chipping potato crop, which is an important consideration, as potatoes with reduced VInv expression are entering commercial production in the USA. © 2017 Society of Chemical Industry. © 2017 Society of Chemical Industry.

Executive functioning in preschool children: performance on A-not-B and other delayed response format tasks.

PubMed

Espy, K A; Kaufmann, P M; McDiarmid, M D; Glisky, M L

1999-11-01

The A-not-B (AB) task has been hypothesized to measure executive/frontal lobe function; however, the developmental and measurement characteristics of this task have not been investigated. Performances on AB and comparison tasks adapted from developmental and neuroscience literature was examined in 117 preschool children (ages 23-66 months). Age significantly predicted performance on AB, Delayed Alternation, Spatial Reversal, Color Reversal, and Self-Control tasks. A four-factor analytic model best fit task performance data. AB task indices loaded on two factors with measures from the Self-Control and Delayed Alternation tasks, respectively. AB indices did not load with those from the reversal tasks despite similarities in task administration and presumed cognitive demand (working memory). These results indicate that AB is sensitive to individual differences in age-related performance in preschool children and suggest that AB performance is related to both working memory and inhibition processes in this age range.

Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

PubMed

Cignetti, Fabien; Vaugoyeau, Marianne; Fontan, Aurelie; Jover, Marianne; Livet, Marie-Odile; Hugonenq, Catherine; Audic, Frédérique; Chabrol, Brigitte; Assaiante, Christine

2018-05-01

Feedforward and online controls are two facets of predictive motor control from internal models, which is suspected to be impaired in learning disorders. We examined whether the feedforward component is affected in children (8-12 years) with developmental dyslexia (DD) and/or with developmental coordination disorder (DCD) compared to typically developing (TD) children. Children underwent a bimanual unloading paradigm during which a load supported to one arm, the postural arm, was either unexpectedly unloaded by a computer or voluntary unloaded by the subject with the other arm. All children showed a better stabilization (lower flexion) of the postural arm and an earlier inhibition of the arm flexors during voluntary unloading, indicating anticipation of unloading. Between-group comparisons of kinematics and electromyographic activity of the postural arm revealed that the difference during voluntary unloading was between DD-DCD children and the other groups, with the former showing a delayed inhibition of the flexor muscles. Deficit of the feedforward component of motor control may particularly apply to comorbid subtypes, here the DD-DCD subtype. The development of a comprehensive framework for motor performance deficits in children with learning disorders will be achieved only by dissociating key components of motor prediction and focusing on subtypes and comorbidities. Copyright © 2018 Elsevier Ltd. All rights reserved.

Developmental Exposure to an Environmental PCB Mixture Delays the Propagation of Kindling in the Amygdala

EPA Science Inventory

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...

Accumulation and developmental toxicity of hexabromocyclododecanes (HBCDs) on the marine copepod Tigriopus japonicus.

PubMed

Shi, Dalin; Lv, Dongmei; Liu, Wanxin; Shen, Rong; Li, Dongmei; Hong, Haizheng

2017-01-01

The brominated flame retardants hexabromocyclododecanes (HBCDs) are ubiquitous environmental contaminants, widely distributed in aquatic systems including the marine environment and marine organisms. HBCDs are toxic to the development of both freshwater and marine fish. However, the impacts of HBCDs on marine invertebrates are not well known. In this study, the marine copepod, Tigriopus japonicus, was used to assess the bioaccumulation and developmental toxicity of technical HBCD (tHBCD) through water-borne exposure. The uptake rate constant of tHBCD by T. japonicus was high, which resulted in high bioaccumulation potential. The bioconcentration factors of tHBCD were 8.73 × 10 4 and 6.34 × 10 4  L kg -1 in T. japonicus, calculated using the kinetic and steady-state methods, respectively. Exposure of T. japonicus nauplii to tHBCD caused significant growth delay. The lowest-observable-effect-concentrations of tHBCD induced developmental delay were 30 and 8 μg L -1 for the F0 and F1 generations, respectively, which suggested that the F1 generation was more sensitive to tHBCD than the F0 generation and warranted multiple-generation toxicity tests for future studies. Furthermore, exposure of the adult copepods to tHBCD induced the transcription of oxidative stress response genes and apoptotic genes, e.g., SOD,CAT, GST, OGG1, P53 and Caspase-3. It was therefore speculated that tHBCD exposure induced the generation of reactive oxygen species in T. japonicus, which activated the oxidative stress defense genes and meanwhile resulted in oxidative DNA damage. The damaged DNA activated the transcription of p53 and triggered the caspase-mediated apoptosis pathway, which may be the reason for the tHBCD induced developmental delay in T. japonicus nauplii. Copyright © 2016 Elsevier Ltd. All rights reserved.

Simple Mindreading Abilities Predict Complex Theory of Mind: Developmental Delay in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia

2017-01-01

Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on…

Neglect-like characteristics of developmental disregard in children with cerebral palsy revealed by event related potentials.

PubMed

Zielinski, Ingar M; Steenbergen, Bert; Baas, C Marjolein; Aarts, Pauline Bm; Jongsma, Marijtje L A

2014-11-30

Children with unilateral Cerebral Palsy (CP) often show diminished awareness of the remaining capacity of their affected upper limb. This phenomenon is known as Developmental Disregard (DD). DD has been explained by operant conditioning. Alternatively, DD can be described as a developmental delay resulting from a lack of use of the affected hand during crucial developmental periods. We hypothesize that this delay is associated with a general delay in executive functions (EF) related to motor behavior, also known as motor EFs. Twenty-four children with unilateral CP participated in this cross-sectional study, twelve of them diagnosed with DD. To test motor EFs, a modified go/nogo task was presented in which cues followed by go- or nogo-stimuli appeared at either the left or right side of a screen. Children had to press a button with the hand corresponding to the side of stimulus presentation. Apart from response accuracy, Event-Related Potentials (ERPs) extracted from the ongoing EEG were used to register covert cognitive processes. ERP N1, P2, N2, and P3 components elicited by cue-, go-, and nogo-stimuli were further analyzed to differentiate between different covert cognitive processes. Children with DD made more errors. With respect to the ERPs, the P3 component to go-stimuli was enhanced in children with DD. This enhancement was related to age, such that younger children with DD showed stronger enhancements. In addition, in DD the N1 component to cue- and go-stimuli was decreased. The behavioral results show that children with DD experience difficulties when performing the task. The finding of an enhanced P3 component to go-stimuli suggests that these difficulties are due to increased mental effort preceding movement. As age in DD mediated this enhancement, it seems that this increased mental effort is related to a developmental delay. The additional finding of a decreased N1 component in DD furthermore suggests a general diminished visuo-spatial attention. This

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.

PubMed

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.

The dual pathway model of AD/HD: an elaboration of neuro-developmental characteristics.

PubMed

Sonuga-Barke, Edmund J S

2003-11-01

The currently dominant neuro-cognitive model of Attention Deficit Hyperactivity Disorder (AD/HD) presents the condition as executive dysfunction (EDF) underpinned by disturbances in the fronto-dorsal striatal circuit and associated dopaminergic branches (e.g. meso-cortical). In contrast, motivationally-based accounts focus on altered reward processes and implicate fronto-ventral striatal reward circuits and those meso-limbic branches that terminate in the ventral striatum especially the nucleus accumbens. One such account, delay aversion (DEL), presents AD/HD as a motivational style-characterised by attempts to escape or avoid delay-arising from fundamental disturbances in these reward centres. While traditionally regarded as competing, EDF and DEL models have recently been presented as complimentary accounts of two psycho-patho-physiological subtypes of AD/HD with different developmental pathways, underpinned by different cortico-striatal circuits and modulated by different branches of the dopamine system. In the current paper we describe the development of this model in more detail. We elaborate on the neuro-circuitry possibly underpinning these two pathways and explore their developmental significance within a neuro-ecological framework.

First Steps for Early Success: State Strategies to Support Developmental Screening in Early Childhood Settings

ERIC Educational Resources Information Center

Johnson-Staub, Christine

2014-01-01

Young children's development occurs along a continuum, with milestones reached at ages that vary within an accepted timeframe. Milestones not met within the expected timeframe can raise concerns about developmental delays, health conditions, or other factors contributing negatively to the child's growth and learning. Monitoring children's…

Stability and change of cognitive attributes in children with uneven/delayed cognitive development from preschool through childhood.

PubMed

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.

Effect of metrology time delay on overlay APC

NASA Astrophysics Data System (ADS)

Carlson, Alan; DiBiase, Debra

2002-07-01

The run-to-run control strategy of lithography APC is primarily composed of a feedback loop as shown in the diagram below. It is known that the insertion of a time delay in a feedback loop can cause degradation in control performance and could even cause a stable system to become unstable, if the time delay becomes sufficiently large. Many proponents of integrated metrology methods have cited the damage caused by metrology time delays as the primary justification for moving from a stand-alone to integrated metrology. While there is little dispute over the qualitative form of this argument, there has been very light published about the quantitative effects under real fab conditions - precisely how much control is lost due to these time delays. Another issue regarding time delays is that the length of these delays is not typically fixed - they vary from lot to lot and in some cases this variance can be large - from one hour on the short side to over 32 hours on the long side. Concern has been expressed that the variability in metrology time delays can cause undesirable dynamics in feedback loops that make it difficult to optimize feedback filters and gains and at worst could drive a system unstable. By using data from numerous fabs, spanning many sizes and styles of operation, we have conducted a quantitative study of the time delay effect on overlay run- to-run control. Our analysis resulted in the following conclusions: (1) There is a significant and material relationship between metrology time delay and overlay control under a variety of real world production conditions. (2) The run-to-run controller can be configured to minimize sensitivity to time delay variations. (3) The value of moving to integrated metrology can be quantified.

Developmental outcome after a single episode of status epilepticus.

PubMed

Roy, Hélène; Lippé, Sarah; Lussier, Francine; Sauerwein, Hannelore Catherine; Lortie, Anne; Lacroix, Jacques; Lassonde, Maryse

2011-08-01

Consequences of status epilepticus (SE) on psychomotor development and the specific impact of the convulsive event on emerging executive functions remain controversial. Infants treated for a single episode of SE, those treated for a single febrile seizure, and healthy infants were tested with respect to motor development, language, personal, and social skills and self-regulation. The children were divided into two age groups to investigate the impact of the convulsive event at different windows of brain maturation. We found that infants who had had SE were inferior to healthy controls on the development scales. Age differentiated SE impact on visuomotor development versus sociolinguistic development. Children who had been treated for SE had significantly more difficulties delaying a response to an attractive stimulus in one of the long-delay conditions. A single episode of SE can interfere with psychomotor and cognitive development in children without previous developmental delay, and it seems that the functions that are emerging at the time of insult are most vulnerable. Crown Copyright © 2011. Published by Elsevier Inc. All rights reserved.

Adolescent Methylmercury Exposure Affects Choice and Delay Discounting in Mice

PubMed Central

Boomhower, Steven R.; Newland, M. Christopher

2016-01-01

The developing fetus is vulnerable to low-level exposure to methylmercury (MeHg), an environmental neurotoxicant, but the consequences of exposure during the adolescent period remain virtually unknown. The current experiments were designed to assess the effects of low-level MeHg exposure during adolescence on delay discounting, preference for small, immediate reinforcers over large, delayed ones, using a mouse model. Thirty-six male C57BL/6n mice were exposed to 0, 0.3, or 3.0 ppm mercury (as MeHg) via drinking water from postnatal day 21 through 59, encompassing the murine adolescent period. As adults, mice lever-pressed for a 0.01-cc droplet of milk solution delivered immediately or four 0.01-cc droplets delivered after a delay. Delays ranged from 1.26 to 70.79 seconds, all presented within a session. A model based on the Generalized Matching Law indicated that sensitivity to reinforcer magnitude was lower for MeHg-exposed mice relative to controls; responding in MeHg-exposed mice was relatively indifferent to the larger reinforcer. Sensitivity to reinforcer delay was reduced (delay discounting was decreased) in the 0.3-ppm group, but not in the 3.0-ppm group, compared to controls. Adolescence is a developmental period during which the brain and behavior may be vulnerable to MeHg exposure. As with gestational exposure, the effects are reflected in the impact of reinforcing stimuli. PMID:27677934

The Developmental Outcome of Children Born to Heroin-Dependent Mothers, Raised at Home or Adopted.

ERIC Educational Resources Information Center

Ornoy, Asher; And Others

1996-01-01

Children born to heroin-dependent mothers (n=83) were compared to 76 children born to heroin-dependent fathers and to 3 control groups with and without environmental deprivation and health problems. Results found that developmental delays and behavioral disorders found among heroin-exposed children resulted primarily from severe environmental…

Becoming Partners with Children: From Play to Conversation. A Developmental Guide for Professionals and Parents.

ERIC Educational Resources Information Center

MacDonald, James D.

Focusing on the preconversational child who has yet to develop a stable or generalized habit of spontaneous conversation, this book presents ECO (Ecological Communication Model), a new intervention model for social and communicative development of developmentally delayed children. The model is based on two perspectives: the literature on the…

Biomedical Risk, Psychosocial Influences, and Developmental Outcomes: Lessons from the Pediatric HIV Population in Africa

ERIC Educational Resources Information Center

Serpell, Robert; Marfo, Kofi; Abubakar, Amina

2014-01-01

Sub-Saharan Africa is home to millions of HIV-affected children. These children are likely to experience multiple developmental delays. In this chapter, I present data highlighting compromised neurobehavioral, mental health, and scholastic outcomes for children affected by HIV. Furthermore, I discuss biomedical factors (e.g., disease severity and…

MOTHERS AND FATHERS TOGETHER: CONTRASTS IN PARENTING ACROSS PRESCHOOL TO EARLY SCHOOL AGE IN CHILDREN WITH DEVELOPMENTAL DELAYS

PubMed Central

Crnic, Keith; Arbona, Anita Pedersen y; Baker, Bruce; Blacher, Jan

2009-01-01

Much of our understanding of families and parenting of children with intellectual disabilities (ID) reflects the thoughts, beliefs, attitudes, and behaviors of mothers with relatively little focus on the ways in which fathers contribute to and are affected by this unique context. In this chapter, we address the importance of fathers as a source of critical developmental influence, and contrast fathers and mothers of children with ID along three important dimensions of parent functioning (stress, well-being, and interactive behavior). The contrasts explore the developmental trajectories of these parenting constructs over time from the perspective of an emerging new complexity in conceptual models of family and parent adaptation. Data from the Collaborative Family Study are used to explore paternal and maternal stress, well-being, and behavior across the preschool through transition to school-age developmental period, and findings are discussed within the context of the broader literature in each area. PMID:20224748

Visual search guidance is best after a short delay

PubMed Central

Schmidt, Joseph; Zelinsky, Gregory J.

2011-01-01

Search displays are typically presented immediately after a target cue, but in the real-world, delays often exist between target designation and search. Experiments 1 and 2 asked how search guidance changes with delay. Targets were cued using a picture or text label, each for 3000ms, followed by a delay up to 9000ms before the search display. Search stimuli were realistic objects, and guidance was quantified using multiple eye movement measures. Text-based cues showed a non-significant trend towards greater guidance following any delay relative to a no-delay condition. However, guidance from a pictorial cue increased sharply 300–600 msec after preview offset. Experiment 3 replicated this guidance enhancement using shorter preview durations while equating the time from cue onset to search onset, demonstrating that the guidance benefit is linked to preview offset rather than a more complete encoding of the target. Experiment 4 showed that enhanced guidance persists even with a mask flashed at preview offset, suggesting an explanation other than visual priming. We interpret our findings as evidence for the rapid consolidation of target information into a guiding representation, which attains its maximum effectiveness shortly after preview offset. PMID:21295053

Regulation of Aedes aegypti Population Dynamics in Field Systems: Quantifying Direct and Delayed Density Dependence

PubMed Central

Walsh, Rachael K.; Aguilar, Cristobal L.; Facchinelli, Luca; Valerio, Laura; Ramsey, Janine M.; Scott, Thomas W.; Lloyd, Alun L.; Gould, Fred

2013-01-01

Transgenic strains of Aedes aegypti have been engineered to help control transmission of dengue virus. Although resources have been invested in developing the strains, we lack data on the ecology of mosquitoes that could impact the success of this approach. Although studies of intra-specific competition have been conducted using Ae. aegypti larvae, none of these studies examine mixed age cohorts at densities that occur in the field, with natural nutrient levels. Experiments were conducted in Mexico to determine the impact of direct and delayed density dependence on Ae. aegypti populations. Natural water, food, and larval densities were used to estimate the impacts of density dependence on larval survival, development, and adult body size. Direct and delayed density-dependent factors had a significant impact on larval survival, larval development, and adult body size. These results indicate that control methods attempting to reduce mosquito populations may be counteracted by density-dependent population regulation. PMID:23669230

Developmental pathways in infants from 4 to 24 months.

PubMed

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.

A Developmental Perspective on Neuroeconomic Mechanisms of Contingency Management

PubMed Central

Stanger, Catherine; Budney, Alan J.; Bickel, Warren K.

2012-01-01

This paper provides a developmental overview of relevant theory and research on delay discounting and neuroeconomics, and their implications for CM approaches to treatment. Recent advances in neuroscience, and in particular the neuroscience of decision making, have the potential to inform treatment development for adolescent substance use in general, and contingency management (CM) treatments in particular. CM utilizes abstinence-based reinforcement to enhance motivation to engage in treatment and engender abstinence. CM interventions may be informed by research on delay discounting, a type of decision making that reflects how individuals value immediate vs. delayed rewards. Delay discounting reliably distinguishes substance abusers from non abusers and is a significant predictor of individual differences in response to substance use treatments. Delay discounting is also of high potential importance in the development of substance use problems in adolescence. Discounting may also be important in predicting response to CM, as CM attempts to directly influence this decision making process, shifting the preference from the immediate rewards of use to delayed rewards for choosing not to use. Multiple neural processes underlie decision making, and those processes have implications for adolescent substance abuse. There are significant neurodevelopmental processes that differentiate adolescents from adults. These processes are implicated in delay discounting, suggesting that adolescence may reflect a period of plasticity in temporal decision making. Understanding the neural mechanisms of delay discounting has led to promising working memory interventions directly targeting the executive functions that underlie individual choices. These interventions may be particularly helpful in combination with CM interventions that offer immediate rewards for brief periods of abstinence, and may show particular benefit in adolescence due to the heightened neural plasticity of systems

Relation between Time Perspective and Delay Discounting: A Literature Review

ERIC Educational Resources Information Center

Teuscher, Ursina; Mitchell, Suzanne H.

2011-01-01

In this article, we examine the relation between delay discounting and future time perspective by reviewing how these concepts have been measured and quantified in order to assess their conceptual similarities. The extent to which the different measures are empirically related is reviewed by describing studies that have assessed both constructs…

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

PubMed

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.

Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?

PubMed

Saini, Arushi Gahlot; Singhi, Pratibha; Sahu, Jitendra Kumar; Ganesan, Saptharishi L; Vyas, Sameer; Rao, Sandeep; Sachdeva, Man Updesh Singh

2014-08-01

Mucopolysaccharidosis-IIIB or Sanfilippo-B syndrome is caused by deficiency of lysosomal α-N-acetylglucosaminidase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Mucopolysaccharidosis-III remains underdiagnosed as a cause of developmental delay and hyperactivity both in adults and children because in contrast to other mucopolysaccharidoses, they have little somatic disease, coarse facial features, hepatosplenomegaly or skeletal changes, and a high incidence of false-negative results on the urinary screening tests. We describe here a girl with the classic phenotype of mucopolysaccharidosis-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained speech delay and hyperactivity and prevent unnecessary investigations. © The Author(s) 2013.

Force-reflection and shared compliant control in operating telemanipulators with time delay

NASA Technical Reports Server (NTRS)

Kim, Won S.; Hannaford, Blake; Bejczy, Antal K.

1992-01-01