Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.

PubMed

Grau, Christina; Starkovich, Molly; Azamian, Mahshid S; Xia, Fan; Cheung, Sau Wai; Evans, Patricia; Henderson, Alex; Lalani, Seema R; Scott, Daryl A

2017-01-01

By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1). Deletions of this ~430 kb region have not been previously implicated in human disease. Duplications of GSPT2 have been documented in individuals with intellectual disability, but the phenotypic consequences of a loss of GSPT2 function have not been elucidated in humans or mouse models. Changes in MAGED1 have not been associated with intellectual disability in humans, but loss of MAGED1 function is associated with neurocognitive and neurobehavioral phenotypes in mice. In all cases, the Xp11.22 deletion was inherited from an unaffected mother. Studies performed on DNA from one of these mothers did not show evidence of skewed X-inactivation. These results suggest that deletions of an ~430 kb region on chromosome Xp11.22 that encompass CENPVL1, CENPVL2, GSPT2 and MAGED1 cause a distinct X-linked syndrome characterized by intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly. Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions.

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.

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.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

PubMed

Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K; Lüdecke, Hermann-Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M; Wieland, Thomas; Andrieux, Joris; Strom, Tim M; Wieczorek, Dagmar; Dieux-Coëslier, Anne; Zink, Alexander M

2017-02-01

Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay. The present report describes three patients without anophthalmia/microphthalmia and loss-of-function mutations or microdeletions of SOX2 who had been investigated in a "genotype first" manner due to intellectual disability/developmental delay using whole exome sequencing or chromosomal microarray analyses. This result prompted us to perform SOX2 Sanger sequencing in 192 developmental delay/intellectual disability patients without anophthalmia or microphthalmia. No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia. In our three patients and four further, reported "genotype first" SOX2 microdeletion patients, anophthalmia/microphthalmia was present in less than half of the patients. Thus, SOX2 is another example of a gene whose clinical spectrum is broadened by the generation of "genotype first" findings using hypothesis-free, genome-wide methods. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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.

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

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.

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.

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

Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

PubMed

Brar, Randeep; Basel, Donald G; Bick, David P; Weik, LuAnn; vanTuinen, Peter; Peterson, Jess F

2017-01-01

To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).

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.

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.

Factors Related to the Expression of Typical and Atypical Repetitive Movements of Young Children with Intellectual Disability.

ERIC Educational Resources Information Center

Wehmeyer, Michael L.

1994-01-01

This paper reviews research describing developmentally typical and atypical repetitive motor movements of children with and without disabilities. It then reports findings of a study of nine preschool-aged children with developmental delay and atypical stereotypies. Predictors of repetitive movements included level of functioning, age, ambulation,…

Cognitive-Behavioral Treatment for Specific Phobias with a Child Demonstrating Severe Problem Behavior and Developmental Delays

ERIC Educational Resources Information Center

Davis, Thompson E., III; Kurtz, Patricia F.; Gardner, Andrew W.; Carman, Nicole B.

2007-01-01

Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and…

[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].

PubMed

Nozaki, Fumihito; Kumada, Tomohiro; Shibata, Minoru; Fujii, Tatsuya; Wada, Takahito; Osaka, Hitoshi

2015-01-01

Creatine transporter deficiency (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and seizures. We report the third Japanese family with CRTR-D. The proband was an 8-year-old boy who presented with hypotonia, severe intellectual disability and two episodes of seizures associated with/without fever. Among 7 siblings (4 males, 3 females), the eldest brother had severe intellectual disability, epilepsy, and sudden death at 17 years of age, while 18-year-old third elder brother had severe intellectual disability, autism, and drug-resistant epilepsy. The proband's urinary creatine/creatinine ratio was increased. A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D. The same mutation was found in the third elder brother. Their mother was a heterozygote. Symptoms of CRTR-D are non-specific. Urinary creatine/creatinine ratio should be measured in patients with hypotonia, developmental delay, seizure and autism whose family history indicates an X-linked inheritance.

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.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

PubMed

Le Gall, Jessica; Nizon, Mathilde; Pichon, Olivier; Andrieux, Joris; Audebert-Bellanger, Séverine; Baron, Sabine; Beneteau, Claire; Bilan, Frédéric; Boute, Odile; Busa, Tiffany; Cormier-Daire, Valérie; Ferec, Claude; Fradin, Mélanie; Gilbert-Dussardier, Brigitte; Jaillard, Sylvie; Jønch, Aia; Martin-Coignard, Dominique; Mercier, Sandra; Moutton, Sébastien; Rooryck, Caroline; Schaefer, Elise; Vincent, Marie; Sanlaville, Damien; Le Caignec, Cédric; Jacquemont, Sébastien; David, Albert; Isidor, Bertrand

2017-08-01

Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV). In our cohort (four patients 47,XXY, four patients 47,XXX, and six patients 47,XYY), seven patients were carrying a pathogenic CNV, two a likely pathogenic CNV and five a variant of uncertain significance. Our analysis suggests that CNV might be considered as an additional independent genetic factor for intellectual disability and developmental delay for patients with SCA and neurodevelopmental disorder.

Delay of gratification: a comparison study of children with Down syndrome, moderate intellectual disability and typical development.

PubMed

Cuskelly, M; Gilmore, L; Glenn, S; Jobling, A

2016-09-01

Self-regulation has been found to be an important contributor to a range of outcomes, with delay of gratification (a self-regulatory skill) predicting better academic, social and personal functioning. There is some evidence that individuals with Down syndrome have difficulty with delay of gratification. We investigated the question of whether this difficulty is common to intellectual disability irrespective of aetiology, or whether it presents a particular problem for those with Down syndrome. The latter was considered a possibility because of language difficulties in this group. Three groups of children with a mean MA between 36 and 60 months participated in the study: children with Down syndrome (n = 32), children with a moderate intellectual disability from a cause other than Down syndrome (n = 26) and typically developing children (n = 50). Children completed a series of measures of language and cognitive functioning and participated in a delay of gratification task. The group of children with Down syndrome delayed for a significantly shorter time than either of the other two groups that did not differ from each other. Receptive language was associated with delay time for the children with Down syndrome but not for the typically developing group, nor for the group with moderate intellectual disability. Children with Down syndrome appear to have a particular difficulty with delay of gratification. Language abilities would seem to be implicated in this difficulty, although further examination of this hypothesis is required. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

PubMed

Stern, D; Cho, M T; Chikarmane, R; Willaert, R; Retterer, K; Kendall, F; Deardorff, M; Hopkins, S; Bedoukian, E; Slavotinek, A; Schrier Vergano, S; Spangler, B; McDonald, M; McConkie-Rosell, A; Burton, B K; Kim, K H; Oundjian, N; Kronn, D; Chandy, N; Baskin, B; Guillen Sacoto, M J; Wentzensen, I M; McLaughlin, H M; McKnight, D; Chung, W K

2017-08-01

Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

PubMed

Castells-Sarret, Neus; Cueto-González, Anna M; Borregan, Mar; López-Grondona, Fermina; Miró, Rosa; Tizzano, Eduardo; Plaja, Alberto

2017-09-25

Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders. Our aim is to evaluate the efficiency of the use of aCGH as first-line test in these and other indications (epilepsy, short stature). A total of 1000 patients referred due to one or more of the abovementioned disorders were analysed by aCGH. Pathogenic genomic imbalances were detected in 14% of the cases, with a variable distribution of diagnosis according to the phenotypes: 18.9% of patients with developmental delay/intellectual disability; 13.7% of multiple congenital anomalies, 9.76% of psychiatric pathologies, 7.02% of patients with epilepsy, and 13.3% of patients with short stature. Within the multiple congenital anomalies, central nervous system abnormalities and congenital heart diseases accounted for 14.9% and 10.6% of diagnoses, respectively. Among the psychiatric disorders, patients with autism spectrum disorders accounted for 8.9% of the diagnoses. Our results demonstrate the effectiveness and efficiency of the use of aCGH as the first line test in genetic diagnosis of patients suspected of genomic imbalances, supporting its inclusion within the National Health System. Copyright © 2017. Publicado por Elsevier España, S.L.U.

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.

Behaviour and Emotional Problems in Toddlers with Pervasive Developmental Disorders and Developmental Delay: Associations with Parental Mental Health and Family Functioning

ERIC Educational Resources Information Center

Herring, S.; Gray, K.; Taffe, J.; Tonge, B.; Sweeney, D.; Einfeld, S.

2006-01-01

Background: Behavioural and emotional problems occur at a high rate in children and adolescents with intellectual disability, often from a young age. Some studies have indicated that children and adolescents with autism present with even higher rates. Less is known about the presentation, development and family impact of these difficulties in…

Sociocultural studies of families of children with intellectual disabilities.

PubMed

Skinner, Debra; Weisner, Thomas S

2007-01-01

This article reviews recent sociocultural studies of families of children with intellectual disabilities to introduce the range of research conducted from this perspective and to highlight the methodological, conceptual, and theoretical contributions of this approach to the study of mental retardation. Sociocultural studies examine families within their cultural, historical, and sociopolitical contexts. This type of research is comparative across different cultural groups, but is not limited to such comparisons. Sociocultural studies use varied theories and methods, but they share a focus on families' coproduction of meanings and practices related to intellectual disability; families' responses and adaptations to disability; and how their understandings and experiences are shaped within larger social institutions and inequities. Sociocultural approaches take into account community contexts that matter to families with members with mental retardation or developmental delay, and they examine the broader systems that define and position individuals with disabilities and their families. As a whole, these studies provide a more experiential and holistic view of families' beliefs and adaptations within sociopolitical worlds, and offer new tools by which to study the families of children with developmental delays within and across different cultural groups. (c) 2007 Wiley-Liss, Inc.

Effects of Symptoms of Comorbid Psychopathology on Challenging Behaviors among Atypically Developing Infants and Toddlers as Assessed with the Baby and Infant Screen for Children with Autism Traits (BISCUIT)

ERIC Educational Resources Information Center

Matson, Johnny L.; Mahan, Sara; Sipes, Megan; Kozlowski, Alison M.

2010-01-01

Comorbid psychopathology and challenging behaviors often occur among persons with developmental disabilities. However, little attention to this issue has been reported in young children. In this study, individuals 17 through 36 months of age with varying diagnoses, such as intellectual disability, developmental delay, and Down syndrome, among…

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India

PubMed Central

John, Neetha; Rajasekhar, Moka; Girisha, Katta Mohan; Sharma, Podila Satya Venkata Narasimha; Gopinath, Puthiya Mundyat

2013-01-01

BACKGROUND: Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability. MATERIALS AND METHODS: A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland. RESULTS: All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients. CONCLUSION: Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR. PMID:24019617

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

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.

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 reinforces the recommendation of obtaining chromosomes on individuals with developmental delay even with a family history of fragile X syndrome. Copyright 1999 Wiley-Liss, Inc.

Participation Patterns of Preschool Children With Intellectual Developmental Disabilities.

PubMed

Gilboa, Yafit; Fuchs, Reut

2018-04-01

We aim to examine the pattern of participation of children with intellectual developmental disabilities (IDD) or global developmental delay (GDD) in comparison with typically developing preschoolers. In addition, to identify environmental and personal factors associated with their participation, 20 children with mild to moderate GDD or IDD, and 24 age- and gender-matched controls, aged 3 to 6 years, were assessed using the Assessment of Preschool Children's Participation and the Environmental Restriction Questionnaire. Significant differences were found between the groups, both for general scales of participation and for each activity area. For the IDD/GDD group, participation was significantly negatively correlated with environmental restrictions at home. For the control group, participation was correlated with demographic variables. Typically developing children participate at a higher frequency and in a more diverse range of activities compared with children with IDD/GDD. Associations between participation and contextual factors varied depending on the child's health condition.

[Characteristics of growth and development in children from families at social risk].

PubMed

Stojadinović, A

2001-01-01

Body height and weight are important indicators of children's health status. There are many evidences that children from disadvantaged families have lower height and weight than children of the same age from families without social risk. The aim of this study was to investigate characteristics of growth and development of children from economically disadvantaged families. The study was partly retrospective and partly prospective. The retrospective study included 509 children from disadvantaged families hospitalized at the Institute of Child and Adolescent Health Care in Novi Sad, during a five-year period. The prospective study included 90 children from disadvantaged families (experimental group) and 132 children from families without social risk (control group) hospitalized at the Institute during a six month period. Height/length, weight, head circumference, and psychomotor/intellectual development have been examined. In the retrospective study results were compared with theoretically expected values, whereas the prospective study results of experimental and control group were compared. In the retrospective study that included only children from disadvantaged families, 136 (26.7%) children had height/length, 173 (34%) had weight, and 86 (16.9%) children had head circumference below 10th percentile. Delay in psychomotor/intellectual development was established in 177 (34.8%) children. Children from families with social risk have significantly more often height/length, weight, head circumference and developmental delay than theoretically expected. In the prospective study 40 (44.4%) children from experimental group had height/length, 29 (32.2%) had weight, 20 (22.2%) children had head circumference below 10th percentile, and 17 (26.2%) had delay in psychomotor/intellectual development. Children from disadvantaged families (experimental group) significantly more often had delay in growth and development comparing with children from families without social risk (control group). Children from disadvantaged families significantly more often exhibit delay in growth and development, comparing with children of the same age from families without social risk. Therefore, pediatricians should consider social risk factors whenever treating children with growth or developmental delay.

Parenting Children with Borderline Intellectual Functioning: A Unique Risk Population

ERIC Educational Resources Information Center

Fenning, Rachel M.; Baker, Jason K.; Baker, Bruce L.; Crnic, Keith A.

2007-01-01

Parenting was examined among families of children with borderline intelligence in comparison to families of typically developing children and children with developmental delays. Parenting data were obtained at child age 5 via naturalistic home observation. Mothers of children with borderline intelligence exhibited less positive and less sensitive…

Binaural Sensory Aid: Case Studies of Its Use by Two Children

ERIC Educational Resources Information Center

Strelow, E. R.; And Others

1978-01-01

The adaptation of the binaural sensory aid for use by blind children is discussed in the context of a pilot study carried out with two blind children; one an intellectually competent 6-year-old girl and the other a developmentally delayed 2-1/2-year-old boy. (Author)

Superior Fluid Intelligence in Children with Asperger's Disorder

ERIC Educational Resources Information Center

Hayashi, Mika; Kato, Motoichiro; Igarashi, Kazue; Kashima, Haruo

2008-01-01

Asperger's disorder is one of autistic spectrum disorders; sharing clinical features with autism, but without developmental delay in language acquisition. There have been some studies of intellectual functioning in autism so far, but very few in Asperger's disorder. In the present study, we investigated abstract reasoning ability, whose form of…

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

PubMed

Wortmann, Saskia B; Chen, Margaret A; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D; Yuzyuk, Tatiana; Coughlin, Curtis R; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, Leo A J; Sampath, Srirangan; Pai, Emil F; Wevers, Ron A; Tiller, George E

2017-05-01

Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life. If not treated with the pyrimidine precursor uridine, neutropenia, failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue. We identified mild and isolated orotic aciduria in 11 unrelated individuals with diverse clinical signs and symptoms, the most common denominator being intellectual disability/developmental delay. Of note, none had blood count abnormalities, relevant hyperammonemia or altered plasma amino acid profile. All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with complete loss of function. The remaining variants were missense changes and predicted to be damaging to the normal encoded protein. Interestingly, family screening revealed heterozygous UMPS variants in combination with mild orotic aciduria in 19 clinically asymptomatic family members. We therefore conclude that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hypotonia and developmental delay are likely due to ascertainment bias.

Mental Disorders in Five-Year-Old Children with or without Developmental Delay: Focus on ADHD

ERIC Educational Resources Information Center

Baker, Bruce L.; Neece, Cameron L.; Fenning, Rachel M.; Crnic, Keith A.; Blacher, Jan

2010-01-01

Epidemiological studies of children and adolescents with intellectual disability have found 30 to 50% exhibiting clinically significant behavior problems. Few studies, however, have assessed young children, included a cognitively typical comparison group, assessed for specific disorders, and/or studied family correlates of diagnosis. We assessed…

Cognitive Profile in a Large French Cohort of Adults with Prader-Willi Syndrome: Differences between Genotypes

ERIC Educational Resources Information Center

Copet, P.; Jauregi, J.; Laurier, V.; Ehlinger, V.; Arnaud, C.; Cobo, A. -M.; Molinas, C.; Tauber, M.; Thuilleaux, D.

2010-01-01

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual delay, learning disabilities and maladaptive behaviours. PWS is caused by a lack of…

Demonstration of Parent Training to Address Early Self-Injury in Young Children with Intellectual and Developmental Delays.

PubMed

Fodstad, Jill C; Kirsch, Alexandra; Faidley, Micah; Bauer, Nerissa

2018-06-20

Individuals with intellectual and developmental disabilities (IDD) are at a high risk for engaging in self-injurious behavior (SIB). Prognosis is poor when SIB emerges early. Limited research exists on interventions teaching parents how to manage their young child's SIB. This investigation assessed the feasibility of adapting an applied behavior analytic parent training program with 11 parents of children 1-5 years of age with IDD and SIB. Quantitative and observational measures were used to assess outcomes; semi-structured interviews assessed caregiver satisfaction. Outcomes yielded preliminary data suggesting the adapted curriculum was feasible and acceptable to parents. Initial efficacy outcomes yielded decreases in SIB and observed negative parent-child interactions on pre- and post-measures. Qualitative data provided areas for further curriculum refinement.

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.

[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.

Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

PubMed

Shim, Sung Han; Shim, Jae Sun; Min, Kyunghoon; Lee, Hee Song; Park, Ji Eun; Park, Sang Hee; Hwang, Euna; Kim, Minyoung

2014-01-15

Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations. © 2013.

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.

Parent-child interaction over time in families of young children with borderline intellectual functioning.

PubMed

Fenning, Rachel M; Baker, Jason K; Baker, Bruce L; Crnic, Keith A

2014-06-01

A previous study suggested that mothers of 5-year-old children with borderline intellectual functioning displayed lower positive engagement with their children as compared with both mothers of typically developing children and mothers of children with significant developmental delays (Fenning, Baker, Baker, & Crnic, 2007). The current study integrated father data and followed these families over the subsequent 1-year period. Parent and child behavior were coded from naturalistic home observations at both waves. Results revealed that mothers of children with borderline intellectual functioning displayed a greater increase in negative-controlling parenting from child age 5 to 6 than did other mothers; fathers displayed more negative-controlling behavior in comparison to fathers of typically developing children. In addition, children with borderline intellectual functioning themselves exhibited a more significant escalation in difficult behavior than did typically developing children. Cross-lagged analyses for the sample as a whole indicated that maternal negative-controlling behavior predicted subsequent child difficulties, whereas negative paternal behavior was predicted by earlier child behavior. In conjunction with evidence from Fenning et al. (2007), these findings suggest a complex, dynamic, and systemic developmental pattern in the emotional behavior of families of children with borderline intellectual functioning. Implications and areas in need of additional research are discussed. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

PubMed

Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-ichi; Ida, Kazumi; Naruto, Takuya; Iai, Mizue; Kurosawa, Kenji

2014-08-01

Kuechler et al. [2011] reported five patients with interstitial deletions in 8q22.2-q22.3 who had intellectual disability, epilepsy, and dysmorphic features. We report on a new patient with the smallest overlapping de novo deletion in 8q22.3 and refined the phenotype. The proposita was an 8-year-old girl, who developed seizures at 10 months, and her epileptic seizure became severe and difficult to control with antiepileptic drugs. She also exhibited developmental delay and walked alone at 24 months. She was referred to us for evaluation for developmental delay and epilepsy at the age of 8 years. She had intellectual disability (IQ 37 at 7 years) and autistic behavior, and spoke two word sentences at 8 years. She had mild dysmorphic features, including telecanthus and thick vermilion of the lips. Array comparative genomic hybridization detected a 1.36 Mb deletion in 8q22.3 that encompassed RRM2B and NCALD, which encode the small subunit of p53-inducible ribonucleotide reductase and neurocalcin delta in the neuronal calcium sensor family of calcium-binding proteins, respectively. The minimum overlapping region between the present and previously reported patients is considered to be a critical region for the phenotype of the deletion in 8q22.3. We suggest that the deletion in 8q22.3 may represent a clinically recognizable condition, which is characterized by intellectual disability and epilepsy. © 2014 Wiley Periodicals, Inc.

Preschool Children with and without Developmental Delay: Behaviour Problems, Parents Optimism and Well-Being

ERIC Educational Resources Information Center

Baker, B. L.; Blacher, J.; Olsson, M. B.

2005-01-01

Background: Children with intellectual disability are at heightened risk for behaviour problems, and these are known to increase parenting stress. This study explored the relation of behaviour problems to less child-related domains of parent well-being (depression and marital adjustment), as well as the moderating effect of a personality trait,…

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.

From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap-A Systematic Review.

PubMed

Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence

2016-01-01

Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or "Giftedness" = Total IQ > 2 SD ), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a "bottom-up" procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed.

From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap—A Systematic Review

PubMed Central

Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence

2016-01-01

Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or “Giftedness” = Total IQ > 2 SD), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a “bottom-up” procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed. PMID:27812341

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.

Family Needs and Family Quality of Life for Taiwanese Families of Children with Intellectual Disability and Developmental Delay

ERIC Educational Resources Information Center

Chiu, Chun-Yu

2013-01-01

This dissertation consists of four related chapters including an introductory overview of all four chapters, a report on family needs, a report on family quality of life, and a summary of implications for the conceptual framework. Chapter 1, the introductory overview, presents background information of Taiwan and describes the family quality of…

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

PubMed

Di Gregorio, E; Riberi, E; Belligni, E F; Biamino, E; Spielmann, M; Ala, U; Calcia, A; Bagnasco, I; Carli, D; Gai, G; Giordano, M; Guala, A; Keller, R; Mandrile, G; Arduino, C; Maffè, A; Naretto, V G; Sirchia, F; Sorasio, L; Ungari, S; Zonta, A; Zacchetti, G; Talarico, F; Pappi, P; Cavalieri, S; Giorgio, E; Mancini, C; Ferrero, M; Brussino, A; Savin, E; Gandione, M; Pelle, A; Giachino, D F; De Marchi, M; Restagno, G; Provero, P; Cirillo Silengo, M; Grosso, E; Buxbaum, J D; Pasini, B; De Rubeis, S; Brusco, A; Ferrero, G B

2017-10-01

Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). Identification of genomic disorders in DD/ID. We performed a comprehensive array-CGH investigation of 1,015 consecutive cases with DD/ID and combined literature mining, genetic evidence, evolutionary constraint scores, and functional information in order to assess the pathogenicity of the CNVs. We identified non-benign CNVs in 29% of patients. Amongst the pathogenic variants (11%), detected with a yield consistent with the literature, we found rare genomic disorders and CNVs spanning known disease genes. We further identified and discussed 51 cases with likely pathogenic CNVs spanning novel candidate genes, including genes encoding synaptic components and/or proteins involved in corticogenesis. Additionally, we identified two deletions spanning potential Topological Associated Domain (TAD) boundaries probably affecting the regulatory landscape. We show how phenotypic and genetic analyses of array-CGH data allow unraveling complex cases, identifying rare disease genes, and revealing unexpected position effects. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

PubMed

Sohn, Young Bae; Yim, Shin-Young; Cho, Eun-Hae; Kim, Ok-Hwa

2015-02-01

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

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

Disparities in diabetes prevalence and preventable hospitalizations in people with intellectual and developmental disability: a population-based study.

PubMed

Balogh, R S; Lake, J K; Lin, E; Wilton, A; Lunsky, Y

2015-02-01

To describe and compare population-level aspects of diabetes and diabetes primary care among people with and without intellectual and developmental disabilities. Administrative health data accessed from the Institute for Clinical Evaluative Sciences was used to identify a cohort of Ontarians with and without intellectual and developmental disabilities between the ages of 30 and 69 years (n = 28 567). These people were compared with a random sample of people without intellectual and developmental disabilities (n = 2 261 919) according to diabetes prevalence, incidence, age, sex, rurality, neighbourhood income and morbidity. To measure diabetes primary care, we also studied hospitalizations for diabetes-related ambulatory care-sensitive conditions. Adults with intellectual and developmental disabilities had a consistently higher prevalence and incidence of diabetes than those without intellectual and developmental disabilities. Disparities in prevalence between those with and without intellectual and developmental disabilities were most notable among women, younger adults and those residing in rural or high income neighbourhoods. In terms of hospitalizations for diabetes-related ambulatory care-sensitive conditions, people with intellectual and developmental disabilities were 2.6 times more likely to be hospitalized. Adults with intellectual and developmental disabilities are at high risk of developing and being hospitalized for diabetes. The findings of the present study have a number of important implications related to the early detection, prevention and proper management of diabetes among adults with intellectual and developmental disabilities. © 2014 The Authors. Diabetic Medicine © 2014 Diabetes UK.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome

PubMed Central

Zimmermann, Michael T.; Ferber, Matthew J.; Niu, Zhiyv; Urrutia, Raul A.; Klee, Eric W.; Babovic-Vuksanovic, Dusica

2017-01-01

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1. The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on cerebrospinal fluid testing. The second is a 5-yr-old female with severe developmental delay, motor and speech delay, and repetitive motion behavior. Whole-exome sequencing identified a novel missense NR2F1 variant in each case, Cys86Phe in the DNA-binding domain in Case 1, and a Leu372Pro in the ligand-binding domain in Case 2. The presence of clinical findings compatible with BBSOAS along with structural analysis at atomic resolution using homology-based molecular modeling and molecular dynamic simulations, support the pathogenicity of these variants for BBSOAS. Short stature, abnormal CNS neurotransmitters, and macrocephaly have not been previously reported for this syndrome and may represent a phenotypic expansion of BBSOAS. A review of published cases along with new evidence from this report support genotype–phenotype correlations for this disorder. PMID:28963436

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.

What Families Need: Validation of the Family Needs Assessment for Taiwanese Families of Children with Intellectual Disability and Developmental Delay

ERIC Educational Resources Information Center

Chiu, Chun-Yu; Turnbull, Ann P.; Summers, Jean Ann

2013-01-01

This study documented the process of developing and validating the Family Needs Assessment (FNA), a seven-factor 73-item measure developed for research and practice, using a sample of Taiwanese families. In developing the FNA, the research team identified a theoretical basis for family needs, used literature and qualitative results in generating…

The early development of stereotypy and self-injury: a review of research methods.

PubMed

Symons, F J; Sperry, L A; Dropik, P L; Bodfish, J W

2005-02-01

The origin and developmental course of stereotypic and self-injurious behaviour among individuals with developmental disabilities such as intellectual disability (ID) or pervasive development disorders such as autism is not well understood. Twelve studies designed to document the prevalence, nature, or development of stereotypic and/or self-injurious behaviour in children under 5 years of age and identified as at risk for developmental delay or disability were reviewed. Comparisons were made with similar studies with typically developing children. It appears that the onset of naturally occurring rhythmic motor stereotypies is delayed in young at-risk children, but that the sequencing may be similar. A very small database, differences in samples, measures, and designs limited the degree to which comparisons could be made across studies. Future work is needed based on appropriately designed prospective comparison studies and uniform quantitative measures to provide an empirical basis for new knowledge about the early development of one of the most serious behaviour disorders afflicting children with ID and related problems of development.

77 FR 57091 - Administration on Intellectual and Developmental Disabilities (AIDD); Notice of Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2012-09-17

... Intellectual and Developmental Disabilities (AIDD); Notice of Meeting AGENCY: President's Committee for People with Intellectual Disabilities (PCPID), HHS. ACTION: Notice of Meeting. DATES: Tuesday, October 16... Intellectual and Developmental Disabilities. [FR Doc. 2012-22830 Filed 9-14-12; 8:45 am] BILLING CODE 4154-01-P ...

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.

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.

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.

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

PubMed

Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D M

2014-07-01

Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus. Patients with GAMT deficiency exhibit the most severe clinical spectrum. Myopathy is a distinct feature in AGAT deficiency. Guanidinoacetate (GAA) is the immediate product in the creatine biosynthetic pathway. Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. An elevated ratio of urinary creatine /creatinine excretion serves as a diagnostic marker in males with SLC6A8 deficiency. Treatment strategies include oral supplementation of high-dose creatine-monohydrate for all three CDD. Guanidinoacetate-reducing strategies (high-dose ornithine, arginine-restricted diet) are additionally employed in GAMT deficiency. Supplementation of substrates for intracerebral creatine synthesis (arginine, glycine) has been used additionally to treat SLC6A8 deficiency. Early recognition and treatment improves outcomes. Normal outcomes in neonatally ascertained siblings from index families with AGAT and GAMT deficiency suggest a potential benefit of newborn screening for these disorders. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Nursing Perspectives on Cancer Screening in Adults with Intellectual and Other Developmental Disabilities

ERIC Educational Resources Information Center

Tyler, Carl V.; Zyzanski, Stephen J.; Panaite, Vanessa; Council, Linda

2010-01-01

Health care disparities have been documented in cancer screenings of adults with intellectual and other developmental disabilities. Developmental disabilities nurses were surveyed to better understand and improve this deficiency. Two thirds of respondents believed that adults with intellectual and developmental disabilities received fewer cancer…

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

ERIC Educational Resources Information Center

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

2017-01-01

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…

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.

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.

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

PubMed

Parente, Daniel J; Garriga, Caryn; Baskin, Berivan; Douglas, Ganka; Cho, Megan T; Araujo, Gabriel C; Shinawi, Marwan

2017-01-01

Neuroligins are post-synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic signaling and is crucial for maintaining the excitation-inhibition balance in the brain. Disruption of the excitation-inhibition balance is associated with neuropsychiatric disease. In animal models, altered NLGN2 expression causes anxiety, developmental delay, motor discoordination, social impairment, aggression, and sensory processing defects. In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia. Copy number variants encompassing NLGN2 on 17p13.1 are associated with autism, intellectual disability, metabolic syndrome, diabetes, and dysmorphic features, but an isolated NLGN2 nonsense variant has not yet been described in humans. Here, we describe a 15-year-old male with severe anxiety, obsessive-compulsive behaviors, developmental delay, autism, obesity, macrocephaly, and some dysmorphic features. Exome sequencing identified a heterozygous, de novo, c.441C>A p.(Tyr147Ter) variant in NLGN2 that is predicted to cause loss of normal protein function. This is the first report of an NLGN2 nonsense variant in humans, adding to the accumulating evidence that links synaptic proteins with a spectrum of neurodevelopmental phenotypes. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

PubMed

Kasher, Paul R; Schertz, Katherine E; Thomas, Megan; Jackson, Adam; Annunziata, Silvia; Ballesta-Martinez, María J; Campeau, Philippe M; Clayton, Peter E; Eaton, Jennifer L; Granata, Tiziana; Guillén-Navarro, Encarna; Hernando, Cristina; Laverriere, Caroline E; Liedén, Agne; Villa-Marcos, Olaya; McEntagart, Meriel; Nordgren, Ann; Pantaleoni, Chiara; Pebrel-Richard, Céline; Sarret, Catherine; Sciacca, Francesca L; Wright, Ronnie; Kerr, Bronwyn; Glasgow, Eric; Banka, Siddharth

2016-02-04

Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia. The 6q16.1 deletions segregated with the phenotype in multiplex families and were shown to be de novo in four families, and there was dramatic phenotypic overlap among affected individuals who were independently ascertained without bias from clinical features. Analysis of the deletions revealed a ∼350 kb critical region on chromosome 6q16.1 that encompasses a gene for proneuronal transcription factor POU3F2, which is important for hypothalamic development and function. Using morpholino and mutant zebrafish models, we show that POU3F2 lies downstream of SIM1 and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area. We show that this finding is consistent with the expression patterns of POU3F2 and related genes in the human brain. Our work helps to further delineate the neuro-endocrine control of energy balance/body mass and demonstrates that this molecular pathway is conserved across multiple species. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

The Progression of Severe Behavior Disorder in Young Children with Intellectual and Developmental Disabilities

PubMed Central

Medeiros, Kristen; Curby, Timothy W.; Bernstein, Alec; Rojahn, Johannes; Schroeder, Stephen R.

2015-01-01

Behavior disorders, such as self-injurious, stereotypic, and aggressive behavior are common among individuals with intellectual or developmental disabilities. While we have learned much about those behaviors over the past few decades, longitudinal research that looks at developmental trajectory has been rare. This study was designed to examine the trajectory of these three forms of severe behavior disorders over a one year time period. The behaviors were measured on two dimensions: frequency of occurrence and severity. Participants were 160 infants and toddlers at risk for developmental delays in Lima, Peru. Using structural equation modeling, we found that the frequency of self-injury and stereotypic behavior and the severity of aggressive behavior remained stable over the 12 month period. Uni-directional structural models fit the data best for self-injurious and aggressive behavior (with frequency being a leading indicator of future severity of self-injury and severity being a leading indicator of future frequency for aggression). For stereotypic behavior, a cross-lagged autoregressive model fit the data best, with both dimensions of frequency and severity involved as leading indicators of each other. These models did not vary significantly across diagnostic groups, suggesting that toddlers exhibiting behavior disorders may be assisted with interventions that target the specific frequencies or severities of behaviors, regardless of diagnostic category. PMID:24012587

An introduction to using children's drawings as an assessment tool.

PubMed

Wilson, D; Ratekin, C

1990-03-01

This article is intended to familiarize the ambulatory care provider with possible uses of children's drawings as assessment tools. Drawings can be a useful adjunct in detecting perceptual-motor difficulties and developmental delay, and can provide clues to self-image and family dynamics. Piaget's theory of cognitive development provides a framework to evaluate the child's intellectual development as reflected in drawings. The developmental scales of Koppitz are presented as a practical screening tool. The Koppitz scales include both developmental norms and items that might indicate emotional problems. Observing the child's drawing of the family provides clues to family dynamics. Becoming highly skilled in the evaluation of children's drawings requires a familiarity with neurophysiology, education, psychology, and psychoanalytic and developmental theory, along with intuition and practice. This article presents an introduction to evaluating children's drawings.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

PubMed

Yang, Hui; Douglas, Ganka; Monaghan, Kristin G; Retterer, Kyle; Cho, Megan T; Escobar, Luis F; Tucker, Megan E; Stoler, Joan; Rodan, Lance H; Stein, Diane; Marks, Warren; Enns, Gregory M; Platt, Julia; Cox, Rachel; Wheeler, Patricia G; Crain, Carrie; Calhoun, Amy; Tryon, Rebecca; Richard, Gabriele; Vitazka, Patrik; Chung, Wendy K

2015-10-01

Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype.

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

PubMed

Larizza, L; Finelli, P

2018-04-19

Advances in genomic analyses based on next-generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms. Disruption of chromatin-associated transcription machinery accounts for the phenotypic overlap of Cornelia de Lange with KBG and with syndromes of the epigenetic machinery. The genes responsible for Smith-Magenis-related disorders act in interconnected networks and the molecular signature of histone acetylation disorders joins Rubinstein-Taybi-related syndromes. Deciphering pathway interconnection of clinically similar ID syndromes may enhance search of common targets useful for developing new therapeutics. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Disparities in Unmet Service Needs Among Adults with Intellectual and Other Developmental Disabilities.

PubMed

Burke, Meghan M; Heller, Tamar

2017-09-01

Due to long waiting lists for services, many adults with intellectual and developmental disabilities in the United States have unmet service needs. Little research, however, has identified the characteristics of caregivers and individuals with intellectual and developmental disabilities that relate to the unmet service needs among individuals who are waiting for services. The present authors conducted a statewide mail survey of 234 caregivers of individuals with intellectual and developmental disabilities who were waiting for services. The present authors identified which parent and individual with intellectual and developmental disability characteristics were significantly associated with the number of unmet service needs. Individuals with intellectual and developmental disabilities who were in poor health, from minority backgrounds and non-verbal were significantly more likely to have a greater number of unmet service needs. Additionally, individuals with younger caregivers and individuals with caregivers from low-income backgrounds were significantly more likely to report a greater number of unmet service needs. Implications for research and policy are discussed. © 2016 John Wiley & Sons Ltd.

What an otolaryngologist should know about evaluation of a child referred for delay in speech development.

PubMed

Tonn, Christopher R; Grundfast, Kenneth M

2014-03-01

Otolaryngologists are asked to evaluate children who a parent, physician, or someone else believes is slow in developing speech. Therefore, an otolaryngologist should be familiar with milestones for normal speech development, the causes of delay in speech development, and the best ways to help assure that children develop the ability to speak in a normal way. To provide information for otolaryngologists that is helpful in the evaluation and management of children perceived to be delayed in developing speech. Data were obtained via literature searches, online databases, textbooks, and the most recent national guidelines on topics including speech delay and language delay and the underlying disorders that can cause delay in developing speech. Emphasis was placed on epidemiology, pathophysiology, most common presentation, and treatment strategies. Most of the sources referenced were published within the past 5 years. Our article is a summary of major causes of speech delay based on reliable sources as listed herein. Speech delay can be the manifestation of a spectrum of disorders affecting the language comprehension and/or speech production pathways, ranging from disorders involving global developmental limitations to motor dysfunction to hearing loss. Determining the cause of a child's delay in speech production is a time-sensitive issue because a child loses valuable opportunities in intellectual development if his or her communication defect is not addressed and ameliorated with treatment. Knowing several key items about each disorder can help otolaryngologists direct families to the correct health care provider to maximize the child's learning potential and intellectual growth curve.

Developing Inclusive College Opportunities for Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Papay, Clare; Griffin, Megan

2013-01-01

Over the past decade, inclusive postsecondary opportunities have become more available to students with intellectual and developmental disabilities than ever before. With greater demand for such opportunities as well as greater awareness of the possibilities for youth with intellectual and developmental disabilities, developing new programs on…

Understanding Information about Mortality among People with Intellectual and Developmental Disabilities in Canada

ERIC Educational Resources Information Center

Ouellette-Kuntz, Hélène; Shooshtari, Shahin; Balogh, Robert; Martens, Patricia

2015-01-01

Background: This paper reviews what is currently known about mortality among Canadians with intellectual and developmental disabilities and describes opportunities for ongoing monitoring. Methods: In-hospital mortality among adults with intellectual and developmental disabilities in Ontario was examined using hospital data. Mortality was compared…

SARC Supplementary Tutor Handbook: Supporting Literacy for People with Intellectual/Developmental Challenges.

ERIC Educational Resources Information Center

Lockert, Richard

This handbook, which is intended for tutors, disability practitioners, and others working with adults with intellectual/developmental disabilities, contains supplementary materials for and about supporting literacy for people with intellectual/developmental challenges. The handbook is a product of the following activities: extensive research of…

Tobacco Use among Individuals with Intellectual or Developmental Disabilities: A Brief Review

ERIC Educational Resources Information Center

Steinberg, Marc L.; Heimlich, Laura; Williams, Jill M.

2009-01-01

Tobacco use is the leading preventable cause of death in the United States. Although few tobacco control efforts target individuals with intellectual and/or developmental disabilities, this population may be especially vulnerable to the deleterious effects of tobacco use and dependence. Individuals with intellectual and developmental disabilities…

Monoamine oxidase a promoter gene associated with problem behavior in adults with intellectual/developmental disabilities.

PubMed

May, Michael E; Srour, Ali; Hedges, Lora K; Lightfoot, David A; Phillips, John A; Blakely, Randy D; Kennedy, Craig H

2009-07-01

A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a gender, ethnicity, and age-matched contrast sample. About 43% (15/35) of adults with intellectual/developmental disabilities and problem behavior possessed the low-efficiency version of the MAOA gene. In comparison, 20% (7/35) of adults with intellectual/developmental disabilities and no problem behavior and 20% (7/35) of the contrast group had the short-allele MAOA polymorphism. Therefore, a common variant in the MAOA gene may be associated with problem behavior in adults with intellectual/developmental disabilities.

Prognostic factors for outcome in pediatric probable lesional frontal lobe epilepsy with an unknown cause (cryptogenic).

PubMed

Lee, Inn-Chi; Chen, Yung-Jung; Lee, Hong-Shen; Li, Shuan-Yow

2014-12-01

The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, including the degree of intellectual disability/developmental delay (P = .002) and seizure frequency (P = .02) after adequate treatment. Intellectual disability was more prevalent in children with a first seizure at 0 to 3 years old (P = .002), and seizures were more frequent in those with a first seizure at 0 to 6 years old than at 7 to 16 years old (P = .026). For pediatric cryptogenic frontal lobe epilepsy, the age at first seizure is important and inversely correlated with outcome, including seizure frequency and intellectual disability. © The Author(s) 2013.

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.

78 FR 2997 - Administration on Intellectual and Developmental Disabilities (AIDD); Notice of Meeting via...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-15

... Intellectual and Developmental Disabilities (AIDD); Notice of Meeting via Conference Call AGENCY: President's Committee for People with Intellectual Disabilities (PCPID), HHS. ACTION: Notice of Meeting via Conference... Analyst, President's Committee for People with Intellectual Disabilities, 200 Independence Avenue, SW...

Family Members' Reports of the Technology Use of Family Members with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Palmer, S. B.; Wehmeyer, M. L.; Davies, D. K.; Stock, S. E.

2012-01-01

Background: A nationwide survey of family members of people with intellectual and developmental disabilities ranging in age from birth through adulthood was conducted to replicate a similar effort by Wehmeyer and update the knowledge base concerning technology use by people with intellectual and developmental disabilities. Method: Survey responses…

Predictors of Future Caregiving by Adult Siblings of Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Burke, Meghan M.; Taylor, Julie Lounds; Urbano, Richard; Hodapp, Robert M.

2012-01-01

With the growing life expectancy for individuals with intellectual and developmental disabilities, siblings will increasingly assume responsibility for the care of their brother or sister with intellectual and developmental disabilities. Using a 163-item survey completed by 757 siblings, the authors identified factors related to future caregiving…

The Relationship between the Severity of Eating Problems and Intellectual Developmental Deficit Level

ERIC Educational Resources Information Center

Gal, Eynat; Hardal-Nasser, Reem; Engel-Yeger, Batya

2011-01-01

Nutrition, essential in the daily living functions promoting life quality of persons with intellectual developmental deficits (IDD), is adversely affected by the highly prevalent eating problems in these persons. The current study explores the characteristics of eating problems in population of children with intellectual developmental disorders.…

Disparities in Unmet Service Needs among Adults with Intellectual and Other Developmental Disabilities

ERIC Educational Resources Information Center

Burke, Meghan M.; Heller, Tamar

2017-01-01

Background: Due to long waiting lists for services, many adults with intellectual and developmental disabilities in the United States have unmet service needs. Little research, however, has identified the characteristics of caregivers and individuals with intellectual and developmental disabilities that relate to the unmet service needs among…

Microenterprise Options for People with Intellectual and Developmental Disabilities: An Outcome Evaluation

ERIC Educational Resources Information Center

Conroy, James W.; Ferris, Charles S.; Irvine, Ron

2010-01-01

Opportunities for community employment of people with intellectual and developmental disabilities are limited, and have not improved over the past quarter century of interest and effort. This report provides the findings from an outcome study of this issue. Twenty-seven people with intellectual and developmental disability, residents in Kent…

Predictors of Self-Determination in Postsecondary Education for Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Shogren, Karrie A.; Wehmeyer, Michael L.; Shaw, Leslie A.; Grigal, Meg; Hart, Debra; Smith, Frank A.; Khamsi, Sheida

2018-01-01

Given the increasing enrollment of students with intellectual and developmental disabilities in postsecondary education and the potential impact of self-determination on postsecondary outcomes, this study analyzed data on the self-determination status of students with intellectual and developmental disabilities completing their first year of a…

Mortality of People with Intellectual and Developmental Disabilities from Select US State Disability Service Systems and Medical Claims Data.

PubMed

Lauer, Emily; McCallion, Philip

2015-09-01

Monitoring population trends including mortality within subgroups such as people with intellectual and developmental disabilities and between countries provides crucial information about the population's health and insights into underlying health concerns and the need for and effectiveness of public health efforts. Data from both US state intellectual and developmental disabilities service system administrative data sets and de-identified state Medicaid claims were used to calculate average age at death and crude mortality rates. Average age at death for people in state intellectual and developmental disabilities systems was 50.4-58.7 years and 61.2-63.0 years in Medicaid data, with a crude adult mortality rate of 15.2 per thousand. Age at death remains lower and mortality rates higher for people with intellectual and developmental disabilities. Improved case finding (e.g. medical claims) could provide more complete mortality patterns for the population with intellectual and developmental disabilities to inform the range of access and receipt of supportive and health-related interventions and preventive care. © 2015 John Wiley & Sons Ltd.

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PubMed

Hewson, Stacy; Puka, Klajdi; Mercimek-Mahmutoglu, Saadet

2017-08-01

KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems. The two youngest affected patients had a variable degree of global developmental delay with no seizures at their current age. This three-generation family with six affected members expands the phenotypic spectrum of KCNQ2 associated encephalopathy to KCNQ2 associated ID and or childhood onset epileptic encephalopathy. We think that KCNQ2 associated epileptic encephalopathy should be included in the differential diagnosis of childhood onset epilepsy and early onset global developmental delay, cognitive dysfunction, or ID. Furthermore, whole exome sequencing in families with ID and history of autosomal dominant inheritance pattern with or without seizures, may further broaden the phenotypic spectrum of KCNQ2 associated epileptic encephalopathy or encephalopathy. © 2017 Wiley Periodicals, Inc.

Preserving the Past: An Early Interview Improves Delayed Event Memory in Children With Intellectual Disabilities

PubMed Central

Brown, Deirdre A; Lewis, Charlie N; Lamb, Michael E

2015-01-01

The influence of an early interview on children's (N = 194) later recall of an experienced event was examined in children with mild and moderate intellectual disabilities (CWID; 7–12 years) and typically developing (TD) children matched for chronological (7–12 years) or mental (4–9 years) age. Children previously interviewed were more informative, more accurate, and less suggestible. CWID (mild) recalled as much information as TD mental age matches, and were as accurate as TD chronological age matches. CWID (moderate) recalled less than TD mental age matches but were as accurate. Interviewers should elicit CWID's recall as early as possible and consider developmental level and severity of impairments when evaluating eyewitness testimony. PMID:25876042

Midlife and Aging Parents of Adults with Intellectual and Developmental Disabilities: Impacts of Lifelong Parenting

ERIC Educational Resources Information Center

Seltzer, Marsha Mailick; Floyd, Frank; Song, Jieun; Greenberg, Jan; Hong, Jinkuk

2011-01-01

Using population data, this study included parents of individuals with intellectual and developmental disabilities (n = 220) and parents of individuals without disabilities (n = 1,042). Parents of individuals with intellectual and developmental disabilities were further divided into those who co-resided with their adult child and those whose adult…

Weight Management in Adults with Intellectual and Developmental Disabilities: A Randomized Controlled Trial of Two Dietary Approaches

ERIC Educational Resources Information Center

Ptomey, Lauren T.; Saunders, Richard R.; Saunders, Muriel; Washburn, Richard A.; Mayo, Matthew S.; Sullivan, Debra K.; Gibson, Cheryl A.; Goetz, Jeannine R.; Honas, Jeff J.; Willis, Erik A.; Danon, Jessica C.; Krebill, Ron; Donnelly, Joseph E.

2018-01-01

Background: The prevalence of obesity among individuals with intellectual and developmental disabilities (IDD) is equal to or greater than the general population. Methods: Overweight/obese adults (BMI =25 kg/m2) with mild-to-moderate intellectual and developmental disabilities were randomized to an enhanced stop light diet…

Intellectual and Developmental Disabilities in Kinshasa, Democratic Republic of the Congo: Causality and Implications for Resilience and Support

ERIC Educational Resources Information Center

Aldersey, Heather M.; Turnbull, H. Rutherford, III; Turnbull, Ann P.

2014-01-01

This article reports results of a 7-month qualitative study on intellectual and related developmental disabilities in Kinshasa, Democratic Republic of the Congo, particularly as they relate to the causes and meaning of intellectual and developmental disabilities (IDD). This study raises important questions related to the understanding of…

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

PubMed

Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie-Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Bütschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume

2017-07-19

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play. Integrating genomics, transcriptomics, and epigenomics data, we describe two novel DLG2 promoters and coding first exons expressed in human fetal brain. Their murine conservation and protein-level evidence allowed us to produce new DLG2 gene models for human and mouse. These new genic elements are deleted in 90% of 29 patients (public and in-house) showing partial deletion of the DLG2 gene. The patients' clinical characteristics expand the neurodevelopmental phenotypic spectrum linked to DLG2 gene disruption to cognitive and behavioral categories. While protein-coding genes are regarded as well known, our work shows that integration of multiple omics datasets can unveil novel coding elements. From a clinical perspective, our work demonstrates that two new DLG2 promoters and exons are crucial for the neurodevelopmental phenotypes associated with this gene. In addition, our work brings evidence for the lack of cross-annotation in human versus mouse reference genomes and nucleotide versus protein databases.

The progression of severe behavior disorder in young children with intellectual and developmental disabilities.

PubMed

Medeiros, Kristen; Curby, Timothy W; Bernstein, Alec; Rojahn, Johannes; Schroeder, Stephen R

2013-11-01

Behavior disorders, such as self-injurious, stereotypic, and aggressive behavior are common among individuals with intellectual or developmental disabilities. While we have learned much about those behaviors over the past few decades, longitudinal research that looks at developmental trajectory has been rare. This study was designed to examine the trajectory of these three forms of severe behavior disorders over a one year time period. The behaviors were measured on two dimensions: frequency of occurrence and severity. Participants were 160 infants and toddlers at risk for developmental delays in Lima, Peru. Using structural equation modeling, we found that the frequency of self-injury and stereotypic behavior and the severity of aggressive behavior remained stable over the 12-month period. Uni-directional structural models fit the data best for self-injurious and aggressive behavior (with frequency being a leading indicator of future severity of self-injury and severity being a leading indicator of future frequency for aggression). For stereotypic behavior, a cross-lagged autoregressive model fit the data best, with both dimensions of frequency and severity involved as leading indicators of each other. These models did not vary significantly across diagnostic groups, suggesting that toddlers exhibiting behavior disorders may be assisted with interventions that target the specific frequencies or severities of behaviors, regardless of diagnostic category. Copyright © 2013 Elsevier Ltd. All rights reserved.

Role of assessment tests in the stability of intelligence scoring of pre-school children with uneven/delayed cognitive profile.

PubMed

Yang, P; Jong, Y-J; Hsu, H-Y; Lung, F-W

2011-05-01

As part of an ongoing clinical service programme for pre-school children with developmental delay in an Asian developing country, we analysed the effect of three assessment tests, that is, Bayley Scale of Infant Development-II, Leiter International Performance Scale - Revised and Wechsler Preschool and Primary Scale of Intelligence - Revised - Chinese, on the stability of intelligence quotient (IQ) of children from pre-school through early childhood. The participants were 313 Taiwanese pre-school children with uneven or delayed cognitive profile and they were followed through early childhood. IQ stability was explored by different tests and among children of different clinical diagnosis: 168 children with non-autistic intellectual disability, 73 children with autism spectrum disorder, 58 children with mixed receptive-expressive language disorder and 14 children of other heterogeneous diagnoses. Stability of scores was evaluated using the r-squared for Pearson's coefficients to see the correlation between initial IQ (IQ1) and follow-up IQ (IQ2). Multiple linear regressions were also applied to see whether IQ1 had predictive ability for IQ2 and test-test difference in the total 313 children and each diagnostic subgroup. Results revealed that mean IQ1 was 65.8 ± 15.4 while mean IQ2 was 73.2 ± 17.9 for the total 313 children. The IQs were stable across an average follow-up duration of 38.6 ± 22.1 month from pre-school into early childhood. Patterns of positive correlations between IQ1 and IQ2 were noted by all the tests (r-squared = 0.43-0.5, all P < 0.001) and in the majority of diagnostic subgroups. Multiple regressions analysis also revealed that IQ1 could predict IQ2 significantly in all the tests (all P < 0.001). After careful choice of appropriate initial test, stability of IQ in children with developmental delay was noted from pre-school through early childhood. In addition, the translated version of cognitive assessment was valid for the required context of an Asian developing country. With the current emphasis on early identification and intervention for pre-school children with developmental delay, this information bears merit in clinical practice. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

Timing of first dental checkup for newly Medicaid-enrolled children with an intellectual or developmental disability.

PubMed

Chi, Donald L; Momany, Elizabeth T; Jones, Michael P; Kuthy, Raymond; Damiano, Peter C

2012-02-01

We compared the extent to which having an intellectual or developmental disability was associated with rates at which Iowa Medicaid-enrolled children ages 3 to 8 had first dental checkups after an initial dental examination. We hypothesized that these children would have later first dental checkups than would children without an intellectual or developmental disability. Findings suggest no significant difference in the time to first dental checkup for children by intellectual or developmental disability status. Those who took over 12 months to see a dentist for their initial dental examination were 1.68 times as likely to have an earlier first dental checkup as children whose initial dental examination occurred within 4 months of being enrolled. Results suggest that having an intellectual or developmental disability is not associated with later first dental checkups for this population.

Doing nothing: adults with disabilities with no daily activities and their siblings.

PubMed

Taylor, Julie Lounds; Hodapp, Robert M

2012-01-01

A significant concern of parents and professionals is that adults with intellectual and developmental disabilities will go without regular educational-vocational activities. The authors examined predictors of such inactivity in individuals with intellectual and developmental disabilities, as well as how inactivity related to their sibling's well-being and the sibling relationship. Participants included 796 siblings of adults with intellectual and developmental disabilities who responded to a web-based survey. Nearly 13% of adults with intellectual and developmental disabilities were without daytime activities; these adults had more emotional-behavioral and health problems, were more underserved by the formal service system, and had parents who were less able to provide care. Although siblings of adults without activities reported more depressive symptoms, worse health, and less close sibling relationships, inactivity no longer predicted these problems after controlling for characteristics that predisposed adults with intellectual and developmental disabilities to have no activities.

Diabetes in people with an intellectual disability: a systematic review of prevalence, incidence and impact.

PubMed

McVilly, K; McGillivray, J; Curtis, A; Lehmann, J; Morrish, L; Speight, J

2014-08-01

To establish the prevalence and incidence of type 1 and type 2 diabetes in people with an intellectual and developmental disability and determine their impact on health and well-being and to appraise the evidence available to inform good practice in diabetes management for people with intellectual and developmental disabilities. We conducted separate searches of multiple databases (EMBASE, CINAHL, MEDLINE, PsycINFO, SCOPUS, Web of Science, PUBMED and Cochrane Library) to find relevant articles. A total of 13 studies were identified: 13 addressed the prevalence of diabetes in people with intellectual and developmental disability, three addressed the impact of diabetes on their health and well-being and three addressed the management of diabetes. The prevalence of diabetes in people with intellectual and developmental disability remains uncertain, and the incidence of diabetes in this group of people is unknown. There is some evidence to support the assertion that people with intellectual and developmental disability might be at greater risk of diabetes than the general population. Overall, the quality of the evidence on which to base prevention and management strategies is variable. There is a paucity of research focusing on the prevalence, incidence and impact of diabetes among people with intellectual and developmental disability. Further research is needed to inform policy and practice in this area and, in particular, work is needed to develop methodologies, evaluation tools, educational resources and diabetes care support services appropriate to the needs of people with intellectual and developmental disability. © 2014 The Authors. Diabetic Medicine © 2014 Diabetes UK.

The Relationship between Dimensions of Forgiveness with Mental Health in Mothers of Children with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Nemati, Shahrooz; Mirnasab, Mir Mahmoud; Bonab, Bagher Ghobari

2016-01-01

The aim of the current study was to predict mental health of the mothers of children with intellectual and developmental disabilities from the magnitude of their forgiveness. To fulfill the stated goal 88 mothers of children with intellectual and developmental disabilities by means of accessible sampling procedure, and Besharat mental health…

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11.

PubMed

Salvador-Carulla, Luis; Reed, Geoffrey M; Vaez-Azizi, Leila M; Cooper, Sally-Ann; Martinez-Leal, Rafael; Bertelli, Marco; Adnams, Colleen; Cooray, Sherva; Deb, Shoumitro; Akoury-Dirani, Leyla; Girimaji, Satish Chandra; Katz, Gregorio; Kwok, Henry; Luckasson, Ruth; Simeonsson, Rune; Walsh, Carolyn; Munir, Kemir; Saxena, Shekhar

2011-10-01

Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

PubMed

Kuroda, Yukiko; Ohashi, Ikuko; Tominaga, Makiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

2014-06-01

17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing TP53 has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the previous report. The 9-year-old proposita was referred for the evaluation of intellectual disability and obesity. She also exhibited insulin resistance and liver dysfunction. She had wide palpebral fissures, upturned nostrils, a long mandible, short and slender fingers, and skin hyperpigmentation. Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. We suggest that 17p13.1 duplication may represent a clinically recognizable condition characterized partially by a characteristic facial phenotype, developmental delay, and obesity. © 2014 Wiley Periodicals, Inc.

National health surveillance of adults with disabilities, adults with intellectual and developmental disabilities, and adults with no disabilities.

PubMed

Havercamp, Susan M; Scott, Haleigh M

2015-04-01

People with disabilities experience worse health and poorer access to health care compared to people without disability. Large-scale health surveillance efforts have largely excluded adults with intellectual and developmental disability. This study expands knowledge of health status, health risks and preventative health care in a representative US sample comparing the health of adults with no disability to adults with intellectual and developmental disability and to adults with other types of disability. The purposes of this study were (1) to identify disparities between adults with intellectual and developmental disability and adults with no disability and (2) compare this pattern of disparities to the pattern between adults with other types of disability and adults without disability. This study compares health status, health risks and preventative health care in a national sample across three groups of adults: No Disability, Disability, and Intellectual and Developmental Disability. Data sources were the 2010 Behavior Risk Factor Surveillance Survey and the National Core Indicators Consumer Survey. Adults with disability and with intellectual and developmental disability were more likely to report being in poor health compared to adults without disability. Disability and intellectual and developmental disability conferred unique health risks and health care utilization patterns. Significant disparities in health and health care utilization were found for adults with disability and developmental disability relative to adults without disability. Disability training for health care providers and health promotion research that identifies disability as a demographic group is needed. Copyright © 2015 Elsevier Inc. All rights reserved.

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

PubMed Central

Kagami, Masayo; Kurosawa, Kenji; Miyazaki, Osamu; Ishino, Fumitoshi; Matsuoka, Kentaro; Ogata, Tsutomu

2015-01-01

Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, −1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29–70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith–Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name ‘Kagami–Ogata syndrome' for UPD(14)pat and related conditions. PMID:25689926

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

PubMed

Thurm, Audrey; Himelstein, Daniel; DʼSouza, Precilla; Rennert, Owen; Jiang, Susanqi; Olatunji, Damilola; Longo, Nicola; Pasquali, Marzia; Swedo, Susan; Salomons, Gajja S; Carrillo, Nuria

2016-05-01

Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene. Prevalence studies suggest this disorder may be underdiagnosed. We sought to identify cases from a well-characterized cohort of children diagnosed with neurodevelopmental disorders. Urine screening for CTD was performed on a cohort of 46 males with autism spectrum disorder (ASD) and 9 males with a history of non-ASD developmental delay (DD) classified with intellectual disability. We identified 1 patient with CTD in the cohort based on abnormal urine Cr/Crn, and confirmed the diagnosis by the identification of a novel frameshift mutation in the SLC6A8 gene. This patient presented without ASD but with intellectual disability, and was characterized by a nonspecific phenotype of early language delay and DD that persisted into moderate-to-severe intellectual disability, consistent with previous descriptions of CTD. Identification of patients with CTD is possible by measuring urine Cr and Crn levels and the current case adds to the growing literature of neurocognitive deficits associated with the disorder that affect cognition, language and behavior in childhood.

Vestibulo-Ocular Response and Balance Control in Children and Young Adults with Mild-to-Moderate Intellectual and Developmental Disability: A Pilot Study

ERIC Educational Resources Information Center

Zur, Oz; Ronen, Ayelet; Melzer, Itshak; Carmeli, Eli

2013-01-01

The vestibulo-ocular response (VOR) may not be fully developed in children with an intellectual and developmental disability (IDD). This study aimed to identify the presence of VOR deficit in children and young adults with unspecified mild-to-moderate intellectual and developmental disability and its effect on balance control. Twenty-one children…

14 CFR 1274.208 - Intellectual property.

Code of Federal Regulations, 2011 CFR

2011-01-01

... organization for experimental, developmental, research, design or engineering work in support of the agreement... COMMERCIAL FIRMS Pre-Award Requirements § 1274.208 Intellectual property. (a) Intellectual property rights. A...) with a domestic nonprofit organization or a small business firm for experimental, developmental, or...

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

PubMed

Snijders Blok, Lot; Hiatt, Susan M; Bowling, Kevin M; Prokop, Jeremy W; Engel, Krysta L; Cochran, J Nicholas; Bebin, E Martina; Bijlsma, Emilia K; Ruivenkamp, Claudia A L; Terhal, Paulien; Simon, Marleen E H; Smith, Rosemarie; Hurst, Jane A; McLaughlin, Heather; Person, Richard; Crunk, Amy; Wangler, Michael F; Streff, Haley; Symonds, Joseph D; Zuberi, Sameer M; Elliott, Katherine S; Sanders, Victoria R; Masunga, Abigail; Hopkin, Robert J; Dubbs, Holly A; Ortiz-Gonzalez, Xilma R; Pfundt, Rolph; Brunner, Han G; Fisher, Simon E; Kleefstra, Tjitske; Cooper, Gregory M

2018-05-08

Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders. Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms. Six affected individuals had mutations that are predicted to truncate the MED13 protein, six had missense mutations, and one had an in-frame-deletion of one amino acid. Out of the seven non-truncating mutations, six clustered in two specific locations of the MED13 protein: an N-terminal and C-terminal region. The four N-terminal clustering mutations affect two adjacent amino acids that are known to be involved in MED13 ubiquitination and degradation, p.Thr326 and p.Pro327. MED13 is a component of the CDK8-kinase module that can reversibly bind Mediator, a multi-protein complex that is required for Polymerase II transcription initiation. Mutations in several other genes encoding subunits of Mediator have been previously shown to associate with DD/ID, including MED13L, a paralog of MED13. Thus, our findings add MED13 to the group of CDK8-kinase module-associated disease genes.

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

PubMed

Sartori, Stefano; Di Rosa, Gabriella; Polli, Roberta; Bettella, Elisa; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, Alessandra

2009-02-01

Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de novo, mutation truncates the large CDKL5 COOH-terminal region, thought to be crucial for the proper sub-cellular localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early-onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures. (c) 2009 Wiley-Liss, Inc.

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.

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.

77 FR 43335 - Administration on Intellectual and Developmental Disabilities; Agency Information Collection...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-24

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Administration for Community Living Administration on Intellectual and Developmental Disabilities; Agency Information Collection Activities; Proposed Collection; Comment Request; Financial Status Reporting Form for State Councils on Developmental Disabilities AGENCY...

Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

PubMed Central

CARULLA, LUIS SALVADOR; REED, GEOFFREY M.; VAEZ-AZIZI, LEILA M.; COOPER, SALLY-ANN; LEAL, RAFAEL MARTINEZ; BERTELLI, MARCO; ADNAMS, COLLEEN; COORAY, SHERVA; DEB, SHOUMITRO; DIRANI, LEYLA AKOURY; GIRIMAJI, SATISH CHANDRA; KATZ, GREGORIO; KWOK, HENRY; LUCKASSON, RUTH; SIMEONSSON, RUNE; WALSH, CAROLYN; MUNIR, KEMIR; SAXENA, SHEKHAR

2011-01-01

Although “intellectual disability” has widely replaced the term “mental retardation”, the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)’s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as “a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills”. The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features. PMID:21991267

Motor proficiency differences among students with intellectual disabilities, autism, and developmental disability

PubMed Central

Jeoung, Bogja

2018-01-01

There is considerable overlap in the manifestations of intellectual disability, autism, and developmental disability. We aimed to determine whether students with such disabilities have differences in their motor proficiency. We compared the motor proficiency of 82 students (age, 11 to 20 years) with different severities of intellectual disability (borderline, 11 students; mild, 27 students; moderate, 19 students), developmental disability (15 students), or autism (10 students). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition was used to assess motor skills. The data were analyzed using descriptive statistics, independent t-tests, and analysis of variance. Compared to students with borderline intellectual disabilities, mild intellectual disabilities, or autism, those with moderate intellectual disabilities scored significantly lower on al-most all items regarding motor skill on the Bruininks-Oseretsky Test of Motor Proficiency. The results of this study provide key information for developing exercise programs to improve the motor proficiency and quality of life of children with various developmental disorders. PMID:29740563

Motor proficiency differences among students with intellectual disabilities, autism, and developmental disability.

PubMed

Jeoung, Bogja

2018-04-01

There is considerable overlap in the manifestations of intellectual disability, autism, and developmental disability. We aimed to determine whether students with such disabilities have differences in their motor proficiency. We compared the motor proficiency of 82 students (age, 11 to 20 years) with different severities of intellectual disability (borderline, 11 students; mild, 27 students; moderate, 19 students), developmental disability (15 students), or autism (10 students). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition was used to assess motor skills. The data were analyzed using descriptive statistics, independent t -tests, and analysis of variance. Compared to students with borderline intellectual disabilities, mild intellectual disabilities, or autism, those with moderate intellectual disabilities scored significantly lower on al-most all items regarding motor skill on the Bruininks-Oseretsky Test of Motor Proficiency. The results of this study provide key information for developing exercise programs to improve the motor proficiency and quality of life of children with various developmental disorders.

The interrelationships between motor, cognitive, and language development in children with and without intellectual and developmental disabilities.

PubMed

Houwen, Suzanne; Visser, Linda; van der Putten, Annette; Vlaskamp, Carla

2016-01-01

It is generally agreed that cognitive and language development are dependent on the emergence of motor skills. As the literature on this issue concerning children with developmental disabilities is scarce, we examined the interrelationships between motor, cognitive, and language development in children with intellectual and developmental disabilities (IDD) and compared them to those in children without IDD. In addition, we investigated whether these relationships differ between children with different levels of cognitive delay. Seventy-seven children with IDD (calendar age between 1;0 and 9;10 years; mean developmental age: 1;8 years) and 130 typically developing children (calendar age between 0;3 and 3;6 years; mean developmental age: 1;10 years) were tested with the Dutch Bayley Scales of Infant and Toddler Development, Third Edition, which assesses development across three domains using five subscales: fine motor development, gross motor development (motor), cognition (cognitive), receptive communication, and expressive communication (language). Results showed that correlations between the motor, cognitive, and language domains were strong, namely .61 to .94 in children with IDD and weak to strong, namely .24 to .56 in children without IDD. Furthermore, the correlations showed a tendency to increase with the severity of IDD. It can be concluded that both fine and gross motor development are more strongly associated with cognition, and consequently language, in children with IDD than in children without IDD. The findings of this study emphasize the importance of early interventions that boost both motor and cognitive development, and suggest that such interventions will also enhance language development. Copyright © 2016 Elsevier Ltd. All rights reserved.

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.

77 FR 60123 - Agency Information Collection Activities: Submission for OMB Review; Comment Request...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-10-02

...: Notice. SUMMARY: The Administration Intellectual and Developmental Disabilities (AIDD), Administration... Intellectual and Developmental Disabilities (AIDD). AIDD will aggregate the information in the SGPs into a... Collection Activities: Submission for OMB Review; Comment Request; Developmental Disabilities Protection...

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.

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.

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

PubMed Central

Mohan, Shruthi; Koshy, Teena; Vekatachalam, Perumal; Nampoothiri, Sheela; Yesodharan, Dhanya; Gowrishankar, Kalpana; Kumar, Jeevan; Ravichandran, Latha; Joseph, Santhosh; Chandrasekaran, Anupama; Paul, Solomon F. D.

2016-01-01

Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD. Methods: One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols. Results: Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement. Interpretation & conclusions: The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH. PMID:27934799

Intellectual and developmental disabilities in Kinshasa, Democratic Republic of the Congo: causality and implications for resilience and support.

PubMed

Aldersey, Heather M; Turnbull, H Rutherford; Turnbull, Ann P

2014-06-01

This article reports results of a 7-month qualitative study on intellectual and related developmental disabilities in Kinshasa, Democratic Republic of the Congo, particularly as they relate to the causes and meaning of intellectual and developmental disabilities (IDD). This study raises important questions related to the understanding of resilience of persons affected by IDD and the nature and purpose of support they use or desire.

Openness and avoidance--a longitudinal study of fathers of children with intellectual disability.

PubMed

Boström, P K; Broberg, M

2014-09-01

Fathers' interactions with children who have intellectual disabilities (ID) or developmental delays (DD) have increased over the past few decades and may be expected to continue to increase as maternal and paternal roles, along with other gender roles, become more equal. The aim of the present study was to explore fathers' experiences of parenthood in relation to a child with ID/DD from the initial discovery of the disability to 5 years later. Fathers' experiences of parenting children with ID/DD were explored in a longitudinal framework. Seven Swedish fathers of young children with ID/DD participated in a series of semi-structured interviews from 2005 to 2010, and their accounts were subjected to interpretative phenomenological analysis. The analysis revealed three themes: (1) An interrupted path - no longer taking things for granted, which describes the fathers' reactions to their children's diagnosis; (2) Being a good father, which describes the fathers' overall perceptions of their parenting of a child with ID/DD; and (3) Dealing with the unexpected, which describes fathers' individual ways of integrating, managing, and living with the knowledge of their child's disability over the 5 years during which fathers were interviewed. Fathers' individual paths need to be taken into consideration when offering psychological support to families of children with ID/DD. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

PubMed Central

Karam, Simone M.; Barros, Aluísio J.D.; Matijasevich, Alícia; dos Santos, Iná S.; Anselmi, Luciana; Barros, Fernando; Leistner-Segal, Sandra; Félix, Têmis M.; Riegel, Mariluce; Maluf, Sharbel W.; Giugliani, Roberto; Black, Maureen M.

2016-01-01

Background Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. Aims To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). Methods In 2004, maternity hospitals were visited daily and births were identified. Live-born infants (n = 4,231) whose family lived in the urban area have been followed for several years. At the age of 2 and 4 years, performances in development and intelligence tests were evaluated using the Battelle Developmental Inventory and Wechsler Intelligence Scale, respectively. Children considered as having developmental delay were invited to attend a genetic evaluation. Results At 4 years of age, the prevalence of ID was 4.5%, and the etiology was classified into 5 groups: environmental (44.4%), genetic (20.5%), idiopathic (12.6%), neonatal sequelae (13.2%), other diseases (9.3%). Most children presented impairment in two or more areas of adaptive behavior. There was no difference in prenatal care attendance or maternal schooling among the groups. Conclusion For about 40% of children, ID was attributed to nonbiological factors, suggesting that the rate may be reduced with appropriate interventions early in life. PMID:27595410

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.

PubMed

Karam, Simone M; Barros, Aluísio J D; Matijasevich, Alícia; Dos Santos, Iná S; Anselmi, Luciana; Barros, Fernando; Leistner-Segal, Sandra; Félix, Têmis M; Riegel, Mariluce; Maluf, Sharbel W; Giugliani, Roberto; Black, Maureen M

2016-01-01

Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). In 2004, maternity hospitals were visited daily and births were identified. Live-born infants (n = 4,231) whose family lived in the urban area have been followed for several years. At the age of 2 and 4 years, performances in development and intelligence tests were evaluated using the Battelle Developmental Inventory and Wechsler Intelligence Scale, respectively. Children considered as having developmental delay were invited to attend a genetic evaluation. At 4 years of age, the prevalence of ID was 4.5%, and the etiology was classified into 5 groups: environmental (44.4%), genetic (20.5%), idiopathic (12.6%), neonatal sequelae (13.2%), other diseases (9.3%). Most children presented impairment in two or more areas of adaptive behavior. There was no difference in prenatal care attendance or maternal schooling among the groups. For about 40% of children, ID was attributed to nonbiological factors, suggesting that the rate may be reduced with appropriate interventions early in life. © 2016 The Author(s) Published by S. Karger AG, Basel.

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

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.

Motor Performance and Rhythmic Perception of Children with Intellectual and Developmental Disability and Developmental Coordination Disorder

ERIC Educational Resources Information Center

Kartasidou, Lefkothea; Varsamis, Panagiotis; Sampsonidou, Anna

2012-01-01

Professionals who work with children presenting intellectual and developmental disability (IDD) and developmental coordination disorder (DCD) are concerned with their motor development and their rhythmic perception. The aim of this study is to investigate the correlation between a motor performance test and a music rhythmic test that measures…

Intellectual and Developmental Disabilities

MedlinePlus

... cognition, and memory; interactions of the family and community with individuals with IDDs; and the effect of individual factors on social interactions, behavior, and emotions. Common Name Intellectual and developmental ...

Maternal and offspring outcomes in women with intellectual and developmental disabilities: a population-based cohort study.

PubMed

Brown, H K; Cobigo, V; Lunsky, Y; Vigod, S N

2017-04-01

To compare the risks for adverse maternal and offspring outcomes in women with and without intellectual and developmental disabilities. Population-based cohort study. Ontario, Canada. Singleton obstetrical deliveries to 18- to 49-year-old women with and without intellectual and developmental disabilities (n = 3932 in the exposed cohort, n = 382 774 in the unexposed cohort; 2002-2011 fiscal years). Women with intellectual and developmental disabilities were identified based on diagnoses in health administrative data or receipt of disability income support. The unexposed cohort comprised women without intellectual and developmental disabilities. Modified Poisson regression was used to compute adjusted relative risks (aRR) and 95% confidence intervals (CI) comparing the two cohorts. Primary maternal outcomes were: gestational diabetes, gestational hypertension, pre-eclampsia, eclampsia, and venous thromboembolism. Primary offspring outcomes were: preterm birth, small for gestational age, and large for gestational age. The exposed cohort, compared with the unexposed cohort, had increased risks for pre-eclampsia (aRR 1.47, 95% CI 1.11-1.93) and venous thromboembolism (aRR 1.60, 95% CI 1.17-2.19). Their offspring had increased risks for preterm birth (aRR 1.63, 95% CI 1.47-1.80) and small for gestational age (aRR 1.35, 95% CI 1.25-1.45). These findings suggest that there is a need to address modifiable risk factors for adverse outcomes among women with intellectual and developmental disabilities prior to and during pregnancy. Moreover, there is a need to enhance monitoring for maternal and offspring complications in this population. Large cohort study: intellectual and developmental disabilities predispose women/babies to adverse outcomes. © 2016 Royal College of Obstetricians and Gynaecologists.

Developmental Defects of Enamel in Children with Intellectual Disability.

PubMed

Erika, Vesna; Modrić; Verzak, Željko; Karlović, Zoran

2016-03-01

To investigate the frequency of developmental defects of enamel (DDE) in children with intellectual disability. Children aged 5-18 years (72 children with intellectual disabilities and 72 controls) were included in the study. All the teeth were screened for developmental defects of enamel using the modified Developmental defects of enamel (mDDE) index. Out of the 72 children with intellectual disabilities in this study, 20 (27.78%) presented dental defects of enamel, compared with 8 (11.11%) of those in the control group, which was considered statistically significant (p = 0.021). The majority of children in both groups had white demarcated opacities. Children in both groups were more likely to have maxillary teeth affected than the mandibular teeth and the asymmetrical demarcated enamel defects were more common than the symmetric ones. Majority of opacities in children in both groups were on the maxillary incisors. Children with intellectual disabilities have more developmental defects of enamel than children in the control group. Enamel defects increase caries risk and cause reduction in enamel mechanical properties leading to restoration failures.

Judicial Reliance on Parental IQ in Appellate-Level Child Welfare Cases Involving Parents with Intellectual and Developmental Disabilities.

PubMed

Callow, Ella; Tahir, Munazza; Feldman, Maurice

2017-05-01

Parents with intellectual and developmental disabilities (IDDs) are over-represented in child welfare cases. Although IQ per se is an invalid indicator of parenting abilities, this study examined the prevalence of judicial consideration of parental IQ test evidence in US appellate cases. The present authors conducted Boolean searches of Westlaw Corporation's case database since 1999. The present authors used a six-question checklist to survey the 42 most recent American appellate cases involving termination of parental rights (TPR) decisions that included evidence of parental intellectual and developmental disabilities based on IQ. In 86% of cases, parental low IQ was presented as a barrier to parenting competence. Higher courts uphold TPR decision in 81% of cases involving parents with intellectual and developmental disabilities. Parental IQ scores are routinely relied upon to judge parenting capacity in custody cases where parents have intellectual and developmental disabilities. The present authors recommend more comprehensive assessments examining a broader range of contextual variable that may impact on parenting abilities. © 2016 John Wiley & Sons Ltd.

"We want respect": adults with intellectual and developmental disabilities address respect in research.

PubMed

McDonald, Katherine Elizabeth

2012-07-01

Respect is central to ethical guidelines for research. The scientific community has long debated, and at times disagreed on, how to demonstrate respect in research with adults with intellectual and developmental disabilities. To illuminate the voices of those most affected, the author studies the views of adults with intellectual and developmental disabilities on respect in research. Findings are consistent with disability rights' ideas and indicate that adults with intellectual and developmental disabilities have much to contribute to the discussion, that they value participating, and that they agree with calls to focus on human rights and dignity. Notably, participants spoke at lengths about the nature of interactions between researchers and participants. Implications are discussed, including how to infuse research standards with community-supported values and preferences.

Working with families of children with special needs: the parent adviser scheme.

PubMed

Buchan, L; Clemerson, J; Davis, H

1988-01-01

This paper describes a project in which an attempt is made to provide regular, ongoing support and counselling for families of children with severe developmental delays and intellectual or physical impairments. This service is available to both English speaking and Bangladeshi families, and is concerned with the needs of the whole family, not just the child. Professionals already working in this field are trained in counselling skills and then work in partnership with the families, attempting to develop a respectful, open relationship based upon active listening.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

PubMed Central

Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip; Esko, Jeffrey D.; Buschman, Matthew D.; Fields, Seth J.; Napolitano, Gennaro; Ozgul, R. Koksal; Sagiroglu, Mahmut Samil; Azam, Matloob; Ismail, Samira; Aglan, Mona; Selim, Laila; Gamal, Iman; Hadi, Sawsan Abdel; El Badawy, Amera; Sadek, Abdelrahim A.; Mojahedi, Faezeh; Kayserili, Hulya; Masri, Amira; Bastaki, Laila; Temtamy, Samia; Müller, Ulrich; Desguerre, Isabelle; Casanova, Jean-Laurent; Dursun, Ali; Gunel, Murat; Gabriel, Stacey B.; de Lonlay, Pascale; Gleeson, Joseph G.

2015-01-01

Pediatric-onset ataxias often present clinically with developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a novel clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in sorting nexin 14 (SNX14), encoding a ubiquitously expressed modular PX-domain-containing sorting factor. We found SNX14 localized to lysosomes, and associated with phosphatidyl-inositol (3,5)P2, a key component of late endosomes/lysosomes. Patient cells showed engorged lysosomes and slower autophagosome clearance rate upon starvation induction. Zebrafish morphants showed dramatic loss of cerebellar parenchyma, accumulated autophagosomes, and activation of apoptosis. Our results suggest a unique ataxia syndrome due to biallelic SNX14 mutations, leading to lysosome-autophagosome dysfunction. PMID:25848753

Best Practices for Practitioners in Autism, Intellectual Disability, and Developmental Disabilities

ERIC Educational Resources Information Center

Zucker, Stanley H.; Perras, Cindy; Perner, Darlene E.; Murdick, Nikki

2013-01-01

On January 23-25, 2013, the Council for Exceptional Children Division on Autism and Developmental Disabilities (DADD) sponsored its Fourteenth International Conference: Research to Practice in Autism, Intellectual Disability and Developmental Disabilities. The conference was held at the Sheraton Kona Resort at Keauhou Bay, Hawaii. The DADD Board…

Transitioning Youth with Intellectual and Other Developmental Disabilities: Predicting Community Employment Outcomes

ERIC Educational Resources Information Center

Simonsen, Monica L.; Neubert, Debra A.

2013-01-01

Community employment outcomes were examined for 338 transitioning youth with intellectual and other developmental disabilities in one state 18 months after exiting public school. All transitioning youth received ongoing Developmental Disability agency funding. The majority of transitioning youth (57.1%) were engaged in sheltered or nonwork…

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

PubMed

Helm, Benjamin M; Powis, Zoe; Prada, Carlos E; Casasbuenas-Alarcon, Olga L; Balmakund, Tonya; Schaefer, G B; Kahler, Stephen G; Kaylor, Julie; Winter, Susan; Zarate, Yuri A; Schrier Vergano, Samantha A

2017-10-01

While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndromic XLID. Herein we present a case series of six individuals (five males, one female) with intellectual disability and seizures found to have alterations in IQSEC2. In all cases, the diagnostic odyssey was extensive and expensive, often including invasive testing such as muscle biopsies, before ultimately reaching the diagnosis. We report these cases to demonstrate the exhaustive work-up prior to finding the changes in IQSEC2 gene, recommend that this gene be considered earlier in the diagnostic evaluation of individuals with global developmental delay, microcephaly, and severe, intractable epilepsy, and support the use of intellectual disability panels including IQSEC2 in the first-line evaluation of these patients. © 2017 Wiley Periodicals, Inc.

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

PubMed

Kolarova, Julia; Tangen, Imke; Bens, Susanne; Gillessen-Kaesbach, Gabriele; Gutwein, Jana; Kautza, Monika; Rydzanicz, Malgorzata; Stephani, Ulrich; Siebert, Reiner; Ammerpohl, Ole; Caliebe, Almuth

2015-08-01

Despite recent progress in molecular karyotyping and clinical sequencing the cause of intellectual disability in a considerable subset of individuals affected by this phenotype remains elusive. As intellectual disability is also a feature of various imprinting disorders and some monogenic forms of intellectual disability are caused by epigenetic modifiers we hypothesized that changes in DNA methylation might be associated with or even causative in some cases of intellectual disability. Therefore, we performed a DNA methylation analysis of peripheral blood samples from 82 patients with intellectual disability and additional features using the HumanMethylation450 BeadChip. The findings were compared to that of 19 normal controls. Differentially methylated loci were validated by bisulfite pyrosequencing. On a global level, we failed to detect a robust DNA methylation signature segregating individuals with intellectual disability from controls. Using an individual approach, we identified 157 regions showing individual DNA methylation changes in at least one patient. These correlated to 107 genes including genes linked to conditions associated with intellectual disability, namely COLEC11, SHANK2, GLI2 and KCNQ2, as well as imprinted genes like FAM50B and MEG3. The latter was suggestive of an undiagnosed Temple syndrome which could be confirmed by diagnostic tests. Subsequent in-depth analysis of imprinted loci revealed DNA methylation changes at additional imprinted loci, i.e. PPIEL, IGF2R, MEG8 and MCTS2/HM13, in up to five patients. Our findings indicate that imprinting disorders are rare but probably under-diagnosed in patients with intellectual disability and moreover point to DNA methylation changes as potential alternative means to identify deregulated genes involved in the pathogenesis of intellectual disability. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Parental concerns, provider response, and timeliness of autism spectrum disorder diagnosis.

PubMed

Zuckerman, Katharine Elizabeth; Lindly, Olivia Jasmine; Sinche, Brianna Kathleen

2015-06-01

To assess differences between child age at first parental concern and age at first parental discussion of concerns with a health care provider among children with autism spectrum disorder (ASD) vs those with intellectual disability/developmental delay (ID/DD), and to assess whether provider response to parental concerns is associated with delays in ASD diagnosis. Using nationally representative data from the 2011 Survey of Pathways to Diagnosis and Treatment, we compared child age at parent's first developmental concern with age at first discussion of concerns with a provider, and categorized provider response as proactive or reassuring/passive, among 1420 children with ASD and 2098 children with ID/DD. In the children with ASD, we tested the association between provider response type and years of diagnostic delay. Compared with children with ID/DD, children with ASD were younger when parents first had concerns and first discussed those concerns with a provider. Compared with parents of children with ID/DD, parents of children with ASD were less likely to receive proactive responses to their concerns and more likely to receive reassuring/passive responses. Among children with ASD, those with more proactive provider responses to concerns had shorter delays in ASD diagnosis compared with those with passive/reassuring provider responses. Although parents of children with ASD have early concerns, delays in diagnosis are common, particularly when providers' responses are reassuring or passive, highlighting the need for targeted improvements in primary care. Copyright © 2015 Elsevier Inc. All rights reserved.

"We Want Respect": Adults with Intellectual and Developmental Disabilities Address Respect in Research

ERIC Educational Resources Information Center

McDonald, Katherine Elizabeth

2012-01-01

Respect is central to ethical guidelines for research. The scientific community has long debated, and at times disagreed on, how to demonstrate respect in research with adults with intellectual and developmental disabilities. To illuminate the voices of those most affected, the author studies the views of adults with intellectual and developmental…

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

PubMed Central

van Dongen, Linde C. M.; Wingbermühle, Ellen; Oomens, Wouter; Bos-Roubos, Anja G.; Ockeloen, Charlotte W.; Kleefstra, Tjitske; Egger, Jos I. M.

2017-01-01

KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome. PMID:29311865

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.

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.

Timing of First Dental Checkup for Newly Medicaid-Enrolled Children with an Intellectual or Developmental Disability

ERIC Educational Resources Information Center

Chi, Donald L.; Momany, Elizabeth T.; Jones, Michael P.; Kuthy, Raymond; Damiano, Peter C.

2012-01-01

We compared the extent to which having an intellectual or developmental disability was associated with rates at which Iowa Medicaid-enrolled children ages 3 to 8 had first dental checkups after an initial dental examination. We hypothesized that these children would have later first dental checkups than would children without an intellectual or…

Carer Reports of Health Status among Adults with Intellectual/Developmental Disabilities in Taiwan Living at Home and in Institutions

ERIC Educational Resources Information Center

Wang, K.-Y.; Hsieh, K.; Heller, T.; Davidson, P. W.; Janicki, M. P.

2007-01-01

Background: The aim of the present study was to assess the health status of a cohort of adults with intellectual/developmental disabilities (I/DD) residing in family homes or institutions in Taiwan and to examine whether morbidity varied with age, sex, existing diagnosis [Down syndrome (DS), seizures, cerebral palsy (CP), intellectual disability…

Severe psychomotor delay in a severe presentation of cat-eye syndrome.

PubMed

Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

2015-01-01

Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

PubMed

Chia, Poh Hui; Zhong, Franklin Lei; Niwa, Shinsuke; Bonnard, Carine; Utami, Kagistia Hana; Zeng, Ruizhu; Lee, Hane; Eskin, Ascia; Nelson, Stanley F; Xie, William H; Al-Tawalbeh, Samah; El-Khateeb, Mohammad; Shboul, Mohammad; Pouladi, Mahmoud A; Al-Raqad, Mohammed; Reversade, Bruno

2018-05-22

Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.1-q34 and is caused by a biallelic germline mutation in CAMK2A . The missense mutation, p.His477Tyr is located in the CAMK2A association domain that is critical for its function and localization. Biochemically, the p.His477Tyr mutant is defective in self-oligomerization and unable to assemble into the multimeric holoenzyme. In vivo , CAMK2A H477Y failed to rescue neuronal defects in C. elegans lacking unc-43 , the ortholog of human CAMK2A. In vitro , neurons derived from patient iPSCs displayed profound synaptic defects. Together, our data demonstrate that a recessive germline mutation in CAMK2A leads to neurodevelopmental defects in humans and suggest that dysfunctional CAMK2 paralogs may contribute to other neurological disorders. © 2018, Chia et al.

Developmental Trajectories in Syndromes with Intellectual Disability, with a Focus on Wolf-Hirschhorn and Its Cognitive-Behavioral Profile

ERIC Educational Resources Information Center

Fisch, Gene S.; Carpenter, Nancy; Howard-Peebles, Patricia N.; Holden, Jeanette J. A.; Tarleton, Jack; Simensen, Richard; Battaglia, Agatino

2012-01-01

Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn…

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

PubMed

Püttmann, Lucia; Stehr, Henning; Garshasbi, Masoud; Hu, Hao; Kahrizi, Kimia; Lipkowitz, Bettina; Jamali, Payman; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans-Hilger; Musante, Luciana; Kuss, Andreas W

2013-08-01

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder of the catabolism of the neurotransmitter gamma-aminobutyric acid (GABA) with a very variable clinical phenotype ranging from mild intellectual disability to severe neurological defects. We report here on a large Iranian family with four affected patients presenting with severe intellectual disability, developmental delay and generalized tonic-clonic seizures. Molecular genetic analysis revealed a missense mutation c.901A>G (p.K301E, RefSeq number NM_001080) in ALDH5A1 co-segregating with the disease in the family. The missense mutation affects an amino acid residue that is highly conserved across the animal kingdom. Protein modeling showed that p.K301E most likely leads to a loss of NAD(+) binding and a predicted decrease in the free energy by 6.67 kcal/mol furthermore suggests a severe destabilization of the protein. In line with these in silico observations, no SSADH enzyme activity could be detected in patient lymphoblasts. Copyright © 2013 Wiley Periodicals, Inc.

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PubMed

Lozano, Reymundo; Vino, Arianna; Lozano, Cristina; Fisher, Simon E; Deriziotis, Pelagia

2015-12-01

FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language deficits. We report on a female child with a history of severe hypotonia, autism spectrum disorder and mild intellectual disability with severe speech/language impairment. Clinical exome sequencing identified a heterozygous de novo FOXP1 variant c.1267_1268delGT (p.V423Hfs*37). Functional analyses using cellular models show that the variant disrupts multiple aspects of FOXP1 activity, including subcellular localization and transcriptional repression properties. Our findings highlight the importance of performing functional characterization to help uncover the biological significance of variants identified by genomics approaches, thereby providing insight into pathways underlying complex neurodevelopmental disorders. Moreover, our data support the hypothesis that de novo variants represent significant causal factors in severe sporadic disorders and extend the phenotype seen in individuals with FOXP1 haploinsufficiency.

Investigation of the Association Between Motor Stereotypy Behavior With Fundamental Movement Skills, Adaptive Functioning, and Autistic Spectrum Disorder Symptomology in Children With Intellectual Disabilities.

PubMed

Powell, Joanne L; Pringle, Lydia; Greig, Matt

2017-02-01

Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study. Spearman rho correlational analysis showed that severity of motor stereotypy behavior was significantly positively correlated with autistic spectrum disorder symptomology ( P = .008) and maladaptive behavior ( P = .008) but not fundamental movement skills ( P > .05). An increase in fundamental movement skills score was associated with a decrease in autistic spectrum disorder symptomology ( P = .01) and an increase in motor skills ( P = .002). This study provides evidence showing a significant relationship between motor stereotypy behavior severity with degree of autistic spectrum disorder symptomology and maladaptive behavior.

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

PubMed Central

De Cinque, Marianna; Palumbo, Orazio; Mazzucco, Ermelinda; Simone, Antonella; Palumbo, Pietro; Ciavatta, Renata; Maria, Giuliana; Ferese, Rosangela; Gambardella, Stefano; Angiolillo, Antonella; Carella, Massimo; Garofalo, Silvio

2017-01-01

Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with variable phenotype spectrum. Although intellectual disability, facial dysmorphism, seizures and brain abnormalities are typical features of this syndrome, genotype–phenotype correlation needs to be better understood. We report the case of a 6-year-old Caucasian boy with a clinical diagnosis of intellectual disability, delayed language development and dyspraxia who carries an approximately 8 Mb de novo heterozygous microdeletion in the 6q26-q27 locus identified by karyotype and defined by high-resolution SNP-array analysis. This patient has no significant structural brain or other organ malformation, and he shows a very mild phenotype compared to similar 6q26-qter deletion. The patient phenotype also suggests that a dyspraxia susceptibility gene is located among the deleted genes. PMID:29270193

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PubMed

Schäfgen, Johanna; Cremer, Kirsten; Becker, Jessica; Wieland, Thomas; Zink, Alexander M; Kim, Sarah; Windheuser, Isabelle C; Kreiß, Martina; Aretz, Stefan; Strom, Tim M; Wieczorek, Dagmar; Engels, Hartmut

2016-12-01

Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However, the knowledge about the associated clinical picture remains fragmentary. In this study, two individuals with de novo TCF20 sequence variants were identified in a cohort of 313 individuals with intellectual disability of unknown aetiology, which was analysed by whole exome sequencing using a child-parent trio design. Both detected variants - one nonsense and one frameshift variant - were truncating. A comprehensive clinical characterisation of the patients yielded mild intellectual disability, postnatal tall stature and macrocephaly, obesity and muscular hypotonia as common clinical signs while ASD was only present in one proband. The present report begins to establish the clinical picture of individuals with de novo nonsense and frameshift variants of TCF20 which includes features such as proportionate overgrowth and muscular hypotonia. Furthermore, intellectual disability/developmental delay seems to be fully penetrant amongst known individuals with de novo nonsense and frameshift variants of TCF20, whereas ASD is shown to be incompletely penetrant. The transcriptional co-regulator gene TCF20 is hereby added to the growing number of genes implicated in the aetiology of both ASD and intellectual disability. Furthermore, such de novo variants of TCF20 may represent a novel differential diagnosis in the overgrowth syndrome spectrum.

Neurodevelopmental behavioral and cognitive disorders.

PubMed

Jeste, Shafali Spurling

2015-06-01

Neurodevelopmental disorders are a group of heterogeneous conditions characterized by a delay or disturbance in the acquisition of skills in a variety of developmental domains, including motor, social, language, and cognition. This article reviews the most commonly diagnosed neurodevelopmental disorders, which include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, global developmental delay, and intellectual disability and also provides updates on diagnosis, neurobiology, treatment, and issues surrounding the transition to adulthood. Although symptoms emerge at discrete points in childhood, these disorders result from abnormal brain maturation that likely precedes clinical impairment. As a result, research has focused on the identification of predictive biological and behavioral markers, with the ultimate goal of initiating treatments that may either alter developmental trajectories or lessen clinical severity. Advances in the methods used to identify genetic variants, from chromosomal microarray analysis to whole exome sequencing, have facilitated the characterization of many genetic mutations and syndromes that share common pathways to abnormal circuit formation and brain development. Not only do genetic discoveries enrich our understanding of mechanisms underlying atypical development, but they also allow us to identify more homogeneous subgroups within this spectrum of conditions. Impairments do continue into adulthood, with challenges in the transition to adulthood including the management of comorbidities and the provision of educational and vocational supports. Advances in our understanding of the neurobiology and developmental trajectories of these disorders will pave the way for tremendous advances in treatment. Mechanism-based therapies for genetic syndromes are being studied with the goal of expanding targeted treatments to nonsyndromic forms of neurodevelopmental disorders.

Student Development and Developmental Studies.

ERIC Educational Resources Information Center

Champaigne, John

1982-01-01

Reviews the nine-stage Perry Scheme of Intellectual and Ethical Development, detailing three major student orientations--dualism, multiplicity, and commitments in relativism. Suggests techniques developmental educators can use to communicate with, support, and challenge students to promote intellectual development. Underscores the importance of…

Why reinvent the wheel? A behaviour analyst's reflections on pedagogy for inclusion for students with intellectual and developmental disability.

PubMed

Dillenburger, Karola

2012-06-01

The number of children identified as having intellectual or developmental disability is rising worldwide and their education has been found wanting. It has been said that "they simply need better teaching." At the same time, there is an increasing evidence base that pedagogy that is based on the discipline of behaviour analysis offers the best prospect for individuals diagnosed with autism spectrum disorders. On the basis of this evidence, it is proposed that behaviour analysis should be applied more broadly to improve teaching for all children with intellectual or developmental disability.

The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder

PubMed Central

Munir, Kerim M.

2016-01-01

Purpose of review The study summarizes supportive epidemiological data regarding the true co-occurrence (comorbidity) and course of mental disorders in children with intellectual disability/intellectual developmental disorders (ID/IDD) across the lifespan. Recent findings Published studies involving representative populations of children and adolescents with ID/IDD have demonstrated a three to four-fold increase in prevalence of co-occurring mental disorders. The effect of age, sex, and severity (mild, moderate, severe, and profound) and socioeconomic status on prevalence is currently not clearly understood. To date there are no prevalence estimates of co-occurring mental disorders in youth identified using the new DSM-5 (and proposed ICD-11) definition of ID/IDD using measures of intellectual functions and deficits in adaptive functioning with various severity levels defined on the basis of adaptive functioning, and not intellectual quotient scores. Summary The true relationship between two forms of morbidity remains complex and causal relationships that may be true for one disorder may not apply to another. The new conceptualization of ID/IDD offers a developmentally better informed psychobiological approach that can help distinguish co-occurrence of mental disorders within the neurodevelopmental section with onset during the developmental period as well as the later onset of other mental disorders. PMID:26779862

The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder.

PubMed

Munir, Kerim M

2016-03-01

The study summarizes supportive epidemiological data regarding the true co-occurrence (comorbidity) and course of mental disorders in children with intellectual disability/intellectual developmental disorders (ID/IDD) across the lifespan. Published studies involving representative populations of children and adolescents with ID/IDD have demonstrated a three to four-fold increase in prevalence of co-occurring mental disorders. The effect of age, sex, and severity (mild, moderate, severe, and profound) and socioeconomic status on prevalence is currently not clearly understood. To date there are no prevalence estimates of co-occurring mental disorders in youth identified using the new DSM-5 (and proposed ICD-11) definition of ID/IDD using measures of intellectual functions and deficits in adaptive functioning with various severity levels defined on the basis of adaptive functioning, and not intellectual quotient scores. The true relationship between two forms of morbidity remains complex and causal relationships that may be true for one disorder may not apply to another. The new conceptualization of ID/IDD offers a developmentally better informed psychobiological approach that can help distinguish co-occurrence of mental disorders within the neurodevelopmental section with onset during the developmental period as well as the later onset of other mental disorders.

Perceived social acceptance, theory of mind and social adjustment in children with intellectual disabilities.

PubMed

Fiasse, Catherine; Nader-Grosbois, Nathalie

2012-01-01

Perceived social acceptance, theory of mind (ToM) and social adjustment were investigated in 45 children with intellectual disabilities (ID) compared with 45 typically developing (TD) preschoolers, matched for developmental age assessed by means of the Differential Scales of Intellectual Efficiency-Revised edition (EDEI-R, Perron-Borelli, 1996). Children's understanding of beliefs and emotions was assessed by means of ToM belief tasks (Nader-Grosbois & Thirion-Marissiaux, 2011) and ToM emotion tasks (Nader-Grosbois & Thirion-Marissiaux, 2011). Seven items from the Pictorial Scale of Perceived Competence and Social Acceptance for children (PSPCSA, Harter & Pike, 1980) assessed children's perceived social acceptance. Their teachers completed the Social Adjustment for Children Scale (EASE, Hughes, Soares-Boucaud, Hochmann, & Frith, 1997). For both groups together, the results showed that perceived social acceptance mediates the relation between ToM skills and social adjustment. The presence or absence of intellectual disabilities does not moderate the relations either between ToM skills and perceived social acceptance, or between perceived social acceptance and social adjustment. The study did not confirm the difference hypothesis of structural and relational patterns between these three processes in children with ID, but instead supported the hypothesis of a similar structure that develops in a delayed manner. Copyright © 2012 Elsevier Ltd. All rights reserved.

Recall memory in children with Down syndrome and typically developing peers matched on developmental age.

PubMed

Milojevich, H; Lukowski, A

2016-01-01

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. In the present research, 10 children with DS and 10 TD children participated in a two-session study to examine basic processes associated with hippocampus-dependent recall memory. At the first session, the researcher demonstrated how to complete a three-step action sequence with novel stimuli; immediate imitation was permitted as an index of encoding. At the second session, recall memory was assessed for previously modelled sequences; children were also presented with two novel three-step control sequences. The results indicated that group differences were not apparent in the encoding of the events or the forgetting of information over time. Group differences were also not observed when considering the recall of individual target actions at the 1-month delay, although TD children produced more target actions overall at the second session relative to children with DS. Group differences were found when considering memory for temporal order information, such that TD children evidenced recall relative to novel control sequences, whereas children with DS did not. These findings suggest that children with DS may have difficulty with mnemonic processes associated with consolidation/storage and/or retrieval processes relative to TD children. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

State health care financing strategies for children with intellectual and developmental disabilities.

PubMed

Bachman, Sara S; Comeau, Margaret; Tobias, Carol; Allen, Deborah; Epstein, Susan; Jantz, Kathryn; Honberg, Lynda

2012-06-01

We provide the first descriptive summary of selected programs developed to help expand the scope of coverage, mitigate family financial hardship, and provide health and support services that children with intellectual and developmental disabilities need to maximize their functional status and quality of life. State financing initiatives were identified through interviews with family advocacy, Title V, and Medicaid organizational representatives. Results showed that states use myriad strategies to pay for care and maximize supports, including benefits counseling, consumer- and family-directed care, flexible funding, mandated benefits, Medicaid buy-in programs, and Tax Equity and Fiscal Responsibility Act of 1982 funding. Although health reform may reduce variation among states, its impact on families of children with intellectual and developmental disabilities is not yet clear. As health reform is implemented, state strategies to ameliorate financial hardship among families of children with intellectual and developmental disabilities show promise for immediate use. However, further analysis and evaluation are required to understand their impact on family and child well-being.

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.

Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.

PubMed

Shi, Shanshan; Lin, Shaobin; Chen, Baojiang; Zhou, Yi

2017-11-01

The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorder, attention‑deficit/hyperactivity disorders and mildly dysmorphic features. The location, size and gene content of the deletion observed in this patient were compared with those in 7 patients with isolated 8p23.2 to 8pter deletions reported in previous studies (4 patients) or recorded in the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER) database (3 patients). The deletions reported in previous studies were assessed using a chromosomal microarray analysis. The 8p23.2‑pter deletion was a distinct microdeletion syndrome, as similar phenotypes were observed in patients with this deletion. Furthermore, following a detailed review of the potential associations between the genes located from 8p23.2 to 8pter and their clinical significance, it was hypothesized that DLG associated protein 2, ceroid‑lipofuscinosis neuronal 8, Rho guanine nucleotide exchange factor 10 and CUB and sushi multiple domains 1 may be candidate genes for DD/ID, microcephaly and neurobehavioral disorders. However, firm evidence should be accumulated from high‑resolution studies of patients with small, isolated, overlapping and interstitial deletions involving the region from 8p23.2 to 8pter. These studies will allow determination of genotype‑phenotype associations for the specific genes crucial to 8p23.2‑pter.

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.

PubMed

Sharma, Pankaj; Gupta, Neerja; Chowdhury, Madhumita Roy; Sapra, Savita; Ghosh, Manju; Gulati, Sheffali; Kabra, Madhulika

2016-09-15

Intellectual disability (ID)/Global developmental delay (GDD) is a diverse group of disorders in terms of cognitive and non-cognitive functions and can occur with or without associated co-morbidities. It affects 1-3% of individuals globally and in at least 30-50% of cases the etiology remains unexplained. The widespread use of chromosomal microarray analysis (CMA) in a clinical setting has allowed the identification of submicroscopic copy number variations (CNVs), throughout the genome, associated with neurodevelopmental phenotypes including ID/GDD. In this study we investigated the utility of CMA in the detection of CNVs in 106 patients with unexplained ID/DD, dysmorphism with or without multiple congenital anomalies (MCA). CMA study was carried out using Agilent 8×60K chips and Illumina Human CytoSNP-12 chips. Pathogenic CNVs were found in 15 (14.2%) patients. In these patients, CNVs on single chromosome were detected in 10 patients while 5 patients showed co-occurrence CNVs on two chromosomes. The size of these CNVs ranged between 322kb to 13Mb. The yield of pathogenic CNVs was similar for both mild and severe ID/GDD cases. One patient described in this paper is considered to harbour a likely pathogenic CNV with deletion in 17q22 region. Only few cases have been described in literature for 17q22 deletion and patient reported here was found to have an atypical deletion in 17q22 region (Case 90). This study re-affirms the view point that CMA is a powerful diagnostic tool in the evaluation of idiopathic ID/GDD patients irrespective of the degree of severity. Identifying pathogenic CNVs helps in counseling and prenatal diagnosis if desired. Copyright © 2016 Elsevier B.V. All rights reserved.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

PubMed Central

Polan, Michelle B; Pastore, Matthew T; Steingass, Katherine; Hashimoto, Sayaka; Thrush, Devon L; Pyatt, Robert; Reshmi, Shalini; Gastier-Foster, Julie M; Astbury, Caroline; McBride, Kim L

2014-01-01

Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABAA). Clusters of GABAA receptor subunit genes are found on chromosomes 4p12, 5q34, 6q15 and 15q11-13. Maternally inherited 15q11-13 duplications among individuals with neurodevelopmental disorders are well described, but few case reports exist for the other regions. We describe a family with a 2.42 Mb duplication at chromosome 4p13 to 4p12, identified in the index case and other family members by oligonucleotide array comparative genomic hybridization, that contains 13 genes including a cluster of four GABAA receptor subunit genes. Fluorescent in-situ hybridization was used to confirm the duplication. The duplication segregates with a variety of neurodevelopmental disorders in this family, including ASD (index case), developmental delay, dyspraxia and ADHD (brother), global developmental delays (brother), learning disabilities (mother) and bipolar disorder (maternal grandmother). In addition, we identified and describe another individual unrelated to this family, with a similar duplication, who was diagnosed with ASD, ADHD and borderline intellectual disability. The 4p13 to 4p12 duplication appears to confer a susceptibility to a variety of neurodevelopmental disorders in these two families. We hypothesize that the duplication acts through a dosage effect of GABAA receptor subunit genes, adding evidence for alterations in the GABAergic system in the etiology of neurodevelopmental disorders. PMID:23695283

Social Competence in Children with Borderline Intellectual Functioning: Delayed Development of Theory of Mind Across All Complexity Levels.

PubMed

Baglio, Gisella; Blasi, Valeria; Sangiuliano Intra, Francesca; Castelli, Ilaria; Massaro, Davide; Baglio, Francesca; Valle, Annalisa; Zanette, Michela; Marchetti, Antonella

2016-01-01

Borderline intellectual functioning (BIF) is characterized by heterogeneous cognitive difficulties, with an intelligence quotient (IQ) between 70 and 85 points, and a failure to meet the developmental and sociocultural standards for personal independence and social responsibility required in daily life. The fact that this population still remain a marginal clinical category, with no ad hoc diagnostic and therapeutic approaches, has stimulated the present research. Our goal was to study children with BIF investigating the development of Theory of Mind (ToM) as a pillar of social competence. Children with BIF ( N = 28, 16 male/12 female, and mean age 9.46 ± 1.26 years) and children with typical development (TD; N = 31, 17 male/14 female; mean age 8.94 years ± 0.99) underwent a neurocognitive assessment and a ToM assessment. Children with BIF showed a significant lower performance across all the levels of ToM development investigated compared to the control group, and a correlation between executive functions and the advanced levels of ToM reasoning. These results constitute a first step in the direction of defining the clinical profile of children with BIF concerning ToM development, opening the way to future interventions in order to support the developmental evolution of this population in an adaptive direction.

Child Protection Services and Parents with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

LaLiberte, Traci; Piescher, Kristine; Mickelson, Nicole; Lee, Mi Hwa

2017-01-01

Background: Information about parents with intellectual and developmental disabilities (IDD) in the child protection system (CPS) continues to evolve. This study examined characteristics, experiences and representation of parents with IDD across three CPS decision points, as compared to parents with other disabilities and parents without…

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

PubMed

Jorge, Paula; Garcia, Elsa; Gonçalves, Ana; Marques, Isabel; Maia, Nuno; Rodrigues, Bárbara; Santos, Helena; Fonseca, Jacinta; Soares, Gabriela; Correia, Cecília; Reis-Lima, Margarida; Cirigliano, Vincenzo; Santos, Rosário

2018-05-10

We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternally-inherited normal-sized FMR1 allele was found. No pathogenic variants were identified in the XIST promoter. Microarray analysis revealed a 439 kb deletion at Xq28, in a region known to be associated with extreme skewing of X-chromosome inactivation. Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. Our findings should be taken into consideration in future guidelines for the diagnostic workup on the diagnosis of intellectual disabilities, particularly in female infant cases.

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.

Treating Individuals With Intellectual Disabilities and Challenging Behaviors With Adapted Dialectical Behavior Therapy

PubMed Central

Brown, Julie F.; Brown, Milton Z.; Dibiasio, Paige

2013-01-01

Approximately one third of adults with intellectual and developmental disabilities have emotion dysregulation and challenging behaviors (CBs). Although research has not yet confirmed that existing treatments adequately reduce CBs in this population, dialectical behavior therapy (DBT) holds promise, as it has been shown to effectively reduce CBs in other emotionally dysregulated populations. This longitudinal single-group pilot study examined whether individuals with impaired intellectual functioning would show reductions in CBs while receiving standard DBT individual therapy used in conjunction with the Skills System (DBT-SS), a DBT emotion regulation skills curriculum adapted for individuals with cognitive impairment. Forty adults with developmental disabilities (most of whom also had intellectual disabilities) and CBs, including histories of aggression, self-injury, sexual offending, or other CBs, participated in this study. Changes in their behaviors were monitored over 4 years while in DBT-SS. Large reductions in CBs were observed during the 4 years. These findings suggest that modified DBT holds promise for effectively treating individuals with intellectual and developmental disabilities. PMID:23914278

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

PubMed

Andersen, Erica F; Baldwin, Erin E; Ellingwood, Sara; Smith, Rosemarie; Lamb, Allen N

2014-07-01

Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X-inactivation patterns. Within Xq28, functional disomy of MECP2 causes a severe ID syndrome, however the dosage sensitivity of other Xq28 duplicated genes is less certain. Duplications involving the int22h-1/int22h-2 LCR-flanked region in distal Xq28 have recently been linked to a novel ID-associated phenotype. While evidence for the dosage sensitivity of this region is emerging, the phenotypic contribution of individual genes within the int22h-1/int22h-2-flanked region has yet to be determined. We report a familial case of a novel 774 kb Xq28-qter duplication, detected by cytogenomic microarray analysis, that partially overlaps the int22h-1/int22h-2-flanked region. This duplication and a 570 kb Xpter-p22.33 loss within the pseudoautosomal region were identified in three siblings, one female and two males, who presented with developmental delays/intellectual disability, mild dysmorphic features and short stature. Although unconfirmed, these results are suggestive of maternal inheritance of a recombinant X. We compare our clinical findings to patients with int22h-1/int22h-2-mediated duplications and discuss the potential pathogenicity of genes within the duplicated region, including those within the shared region of overlap, RAB39B and CLIC2. © 2014 Wiley Periodicals, Inc.

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

PubMed Central

Whittaker, Danielle E.; Kasah, Sahrunizam; Donovan, Alex P. A.; Ellegood, Jacob; Riegman, Kimberley L. H.; Volk, Holger A.; McGonnell, Imelda; Lerch, Jason P.

2017-01-01

Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio‐temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay. PMID:29168327

Vulnerability and Experiences Related to Social Victimization among Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Fisher, Marisa H.; Moskowitz, Andrew L.; Hodapp, Robert M.

2012-01-01

Compared to adults without disabilities, individuals with intellectual and developmental disabilities (IDD) are more likely to experience social victimization. This study examined responses of caregivers of 146 adults with IDD on questionnaires concerning demographics and behavioral characteristics as well as a newly developed Social Vulnerability…

Racial and Ethnic Health Disparities among People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Magaña, Sandra; Parish, Susan; Morales, Miguel A.; Li, Henan; Fujiura, Glenn

2016-01-01

Racial and ethnic health disparities are a pervasive public health problem. Emerging research finds similar health disparities among people with intellectual and developmental disabilities (IDD) compared to nondisabled adults. However, few studies have examined racial and ethnic health disparities among adults with IDD. Using national data, we…

Doing Nothing: Adults with Disabilities with No Daily Activities and Their Siblings

ERIC Educational Resources Information Center

Taylor, Julie Lounds; Hodapp, Robert M.

2012-01-01

A significant concern of parents and professionals is that adults with intellectual and developmental disabilities will go without regular educational-vocational activities. The authors examined predictors of such inactivity in individuals with intellectual and developmental disabilities, as well as how inactivity related to their sibling's…

The Perceptions of Professionals toward Siblings of Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Burke, Meghan M.; Lee, Chung eun; Arnold, Catherine K.; Owen, Aleksa

2017-01-01

Adult siblings of individuals with intellectual and developmental disabilities (IDD) report struggling to navigate the adult disability service delivery system and collaborate with professionals. To date, though, it is unclear how professionals encourage sibling involvement and, accordingly, the facilitators and challenges in working with…

Employment Support Services for Students with Intellectual and Developmental Disabilities Attending Postsecondary Education Programs

ERIC Educational Resources Information Center

Petcu, Stefania D.; Chezan, Laura C.; Van Horn, M. Lee

2015-01-01

Our purpose in this study is to offer a more comprehensive understanding of how students with intellectual and developmental disabilities attending postsecondary education programs are prepared for competitive employment. Data collected through a national survey indicate that the vocational-related support services offered frequently by…

Developing Peer Supports for College Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Griffin, Megan M.; Wendel, Kelly F.; Day, Tammy L.; McMillan, Elise D.

2016-01-01

Many postsecondary education programs for students with intellectual and developmental disabilities (IDD) provide support to these students by matching them with peer mentors. Though this practice is widely used, the scholarly literature offers little information about successful peer support models in higher education settings. To address this…

Epilepsy and Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Oguni, Hirokazu

2013-01-01

The co-occurrence of epilepsy in people with intellectual disabilities (ID) and other developmental disabilities (DD) has received attention because it has a significant negative impact on health, well-being, and quality of life. The current research investigating the frequency and form of epilepsy in children with ID and DD is reviewed, with…

Computerised Attention Training for Children with Intellectual and Developmental Disabilities: A Randomised Controlled Trial

ERIC Educational Resources Information Center

Kirk, Hannah E.; Gray, Kylie M.; Ellis, Kirsten; Taffe, John; Cornish, Kim M.

2016-01-01

Background: Children with intellectual and developmental disabilities (IDD) experience heightened attention difficulties which have been linked to poorer cognitive, academic and social outcomes. Although, increasing research has focused on the potential of computerised cognitive training in reducing attention problems, limited studies have…

Inclusion through Work and Productivity for Persons with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Lysaght, Rosemary; Petner-Arrey, Jami; Howell-Moneta, Angela; Cobigo, Virginie

2017-01-01

Background: Employment provides an important avenue to social inclusion for most adults. A range of productivity options exist for persons with intellectual and developmental disabilities (IDD) who wish to work, each offering unique challenges relative to inclusion. Methods: This qualitative study examined the productivity experiences of people…

Family Perspectives on Integrated Employment for Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Gilson, Carly B.; Carter, Erik W.; Bumble, Jennifer L.; McMillan, Elise D.

2018-01-01

Families are essential partners in efforts to elevate the employment outcomes of adults with intellectual and developmental disabilities (IDD). We examined the employment-related expectations, preferences, and concerns of 673 parents and other family members of adults with IDD. Participants prioritized paid integrated employment over sheltered…

75 FR 65494 - Award of Three Single-Source Expansion Supplements to The University of Colorado Health Sciences...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-10-25

... and inclusion of people with intellectual and developmental disabilities in all facets of community... and inclusion of people with intellectual and developmental disabilities in all facets of community..., The University of Massachusetts (Institute for Community Inclusion) in Boston, MA, and The University...

Social Inclusion and Community Participation of Individuals with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

Amado, Angela Novak; Stancliffe, Roger J.; McCarron, Mary; McCallion, Philip

2013-01-01

As more individuals with intellectual/developmental disabilities are physically included in community life, in schools, neighborhoods, jobs, recreation, and congregations, the challenge of going beyond physical inclusion to true social inclusion becomes more apparent. This article summarizes the status of the research about community participation…

Post-Traumatic Stress Disorder in Young People with Intellectual Disability

ERIC Educational Resources Information Center

Turk, J.; Robbins, I.; Woodhead, M.

2005-01-01

Background: Post-traumatic stress disorder (PTSD) is common and treatable. There is extensive research on people of average intelligence yet little on individuals with developmental disabilities. Methods: We report two people with intellectual disability (ID) who experienced PTSD. The relevance of their developmental difficulties, social and…

Uncovering Health Care Inequalities among Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Ward, Rolanda L.; Nichols, Amanda D.; Freedman, Ruth I.

2010-01-01

Even as attention is drawn to the increasing number of individuals who experience health inequalities in the United States, little is known about the health inequalities experienced by individuals with intellectual and developmental disabilities. Current disability research mainly focuses on physical disabilities. This article discusses the health…

Developmental Pathways and Technology: The Foundations of Enhanced Intellectual Excellence.

ERIC Educational Resources Information Center

Williamson, Edward A.; Slye, Gail L.

The combination of technology applications and an understanding of developmental pathways theory enhances intellectual growth for preservice teachers. Utilizing the theories developed by Dr. James Comer and integrating them with state of the art technological applications, this paper describes one model of preservice education that has been…

The Influences of Delay and Severity of Intellectual Disability on Event Memory in Children

ERIC Educational Resources Information Center

Brown, Deirdre A.; Lewis, Charlie N.; Lamb, Michael E.; Stephens, Emma

2012-01-01

Objective: To examine the ability of children with intellectual disabilities to give reliable accounts of personally experienced events, considering the effects of delay, severity of disability, and the types of interview prompt used. Method: In a between-subjects design, we compared children with intellectual disabilities (7-12 years) that fell…

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.

[Application of single nucleotide polymorphism-microarray and target gene sequencing in the study of genetic etiology of children with unexplained intellectual disability or developmental delay].

PubMed

Gao, Z J; Jiang, Q; Cheng, D Z; Yan, X X; Chen, Q; Xu, K M

2016-10-02

Objective: To evaluate the application of single nucleotide polymorphism (SNP)-microarray and target gene sequencing technology in the clinical molecular genetic diagnosis of unexplained intellectual disability(ID) or developmental delay (DD). Method: Patients with ID or DD were recruited in the Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics between September 2015 and February 2016. The intellectual assessment of the patients was performed using 0-6-year-old pediatric examination table of neuropsychological development or Wechsler intelligence scale (>6 years). Patients with a DQ less than 49 or IQ less than 51 were included in this study. The patients were scanned by SNP-array for detection of genomic copy number variations (CNV), and the revealed genomic imbalance was confirmed by quantitative real time-PCR. Candidate gene mutation screening was carried out by target gene sequencing technology.Causal mutations or likely pathogenic variants were verified by polymerase chain reaction and direct sequencing. Result: There were 15 children with ID or DD enrolled, 9 males and 6 females. The age of these patients was 7 months-16 years and 9 months. SNP-array revealed that two of the 15 patients had genomic CNV. Both CNV were de novo micro deletions, one involved 11q24.1q25 and the other micro deletion located on 21q22.2q22.3. Both micro deletions were proved to have a clinical significance due to their association with ID, brain DD, unusual faces etc. by querying Decipher database. Thirteen patients with negative findings in SNP-array were consequently examined with target gene sequencing technology, genotype-phenotype correlation analysis and genetic analysis. Five patients were diagnosed with monogenic disorder, two were diagnosed with suspected genetic disorder and six were still negative. Conclusion: Sequential use of SNP-array and target gene sequencing technology can significantly increase the molecular genetic etiologic diagnosis rate of the patients with unexplained ID or DD. Combined use of these technologies can serve as a useful examinational method in assisting differential diagnosis of children with unexplained ID or DD.

Receptive Language Skills in Slovak-Speaking Children With Intellectual Disability: Understanding Words, Sentences, and Stories.

PubMed

Polišenská, Kamila; Kapalková, Svetlana; Novotková, Monika

2018-06-05

The study aims to describe receptive language skills in children with intellectual disability (ID) and to contribute to the debate on deviant versus delayed language development. This is the 1st study of receptive skills in children with ID who speak a Slavic language, providing insight into how language development is affected by disability and also language typology. Twenty-eight Slovak-speaking children participated in the study (14 children with ID and 14 typically developing [TD] children matched on nonverbal reasoning abilities). The children were assessed by receptive language tasks targeting words, sentences, and stories, and the groups were compared quantitatively and qualitatively. The groups showed similar language profiles, with a better understanding of words, followed by sentences, with the poorest comprehension for stories. Nouns were comprehended better than verbs; sentence constructions also showed a qualitatively similar picture, although some dissimilarities emerged. Verb comprehension was strongly related to sentence comprehension in both groups and related to story comprehension in the TD group only. The findings appear to support the view that receptive language skills follow the same developmental route in children with ID as seen in younger TD children, suggesting that language development is a robust process and does not seem to be differentially affected by ID even when delayed.

The Relation between Intellectual Functioning and Adaptive Behavior in the Diagnosis of Intellectual Disability

ERIC Educational Resources Information Center

Tassé, Marc J.; Luckasson, Ruth; Schalock, Robert L.

2016-01-01

Intellectual disability originates during the developmental period and is characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. In this article, we present a brief history of the diagnostic criteria of intellectual disability for both…

77 FR 43092 - President's Committee for People with Intellectual Disabilities; Committee Meeting via Conference...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-23

... for People with Intellectual Disabilities; Committee Meeting via Conference Call AGENCY... for People with Intellectual Disabilities, The Aerospace Center, Second Floor West, 370 L'Enfant... Secretary of Health and Human Services, through the Administration on Intellectual and Developmental...

Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature.

PubMed

Douglas, Chad; Smith, Stephen A; Rohena, Luis

2017-06-01

Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features. © 2017 Wiley Periodicals, Inc.

Housing and Independent Living for Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Leach, Debra

2016-01-01

This manuscript provides a review of housing and independent living options for individuals with intellectual and developmental disabilities (I/DD). While there has certainly been an increased emphasis on community integration and inclusion for people with I/DD, barriers to delivering housing supports and services in natural, integrated settings…

Quality of Life of Adults with Pervasive Developmental Disorders and Intellectual Disabilities

ERIC Educational Resources Information Center

Gerber, F.; Baud, M. A.; Giroud, M.; Carminati, G. Galli

2008-01-01

The purpose of this study was to observe quality of life (QoL) and global evolution of persons with Pervasive Developmental Disorders (PDD) in three different groups. Individualized programs for PDD were compared to traditional programs for intellectual disabilities. Behavioural disorders were repeatedly evaluated using the Aberrant Behaviour…

Supporting People with Intellectual and Developmental Disabilities to Participate in Their Communities through Support Staff Pilot Intervention

ERIC Educational Resources Information Center

Zakrajsek, Andrea Gossett; Hammel, Joy; Scazzero, Joseph A.

2014-01-01

Background: Increasingly, people with intellectual and developmental disabilities (I/DD) are supported to participate in least-restricted settings in the community. However, little is known about desired community participation choice and control of people with I/DD, nor effective strategies to support full participation. Furthermore, service…

"Just Having a Job": Career Advancement for Low-Wage Workers with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Lindstrom, Lauren; Hirano, Kara A.; McCarthy, Colleen; Alverson, Charlotte Y.

2014-01-01

This study examined career development and early employment experiences for four young adults with intellectual and developmental disabilities. Researchers used a multiple-method, multiple case-study longitudinal design to explore career development within the context of family systems, high school and transition programs, adult services, and…

Friendship at Any Cost: Parent Perspectives on Cyberbullying Children with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

McHugh, Meaghan C.; Howard, Donna E.

2017-01-01

Bullying affects approximately 40% of individuals with intellectual and developmental disabilities (IDD). Cyberbullying, a type of bullying facilitated by electronic devices, may be particularly worrisome for parents of children with IDD as constant monitoring is difficult. In this study, ten parents of Special Olympics Maryland athletes completed…

Teaching Early Reading Skills to Children with Intellectual and Developmental Disabilities Using Computer-Delivered Instruction: A Pilot Study

ERIC Educational Resources Information Center

Tyler, Emily J.; Hughes, John C.; Wilson, Meadhbh M.; Beverley, Michael; Hastings, Richard P.; Williams, Bethan M.

2015-01-01

Many children with Intellectual and Developmental Disabilities (IDD) have considerable difficulty learning basic reading skills. Increasing evidence suggests individuals with IDD may benefit from instruction incorporating components of reading found to be effective for typically developing children. However, little research into reading…

Twenty Years of Communication Intervention Research with Individuals Who Have Severe Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Snell, Martha E.; Brady, Nancy; McLean, Lee; Ogletree, Billy T.; Siegel, Ellin; Sylvester, Lorraine; Mineo, Beth; Paul, Diane; Romski, Mary Ann; Sevcik, Rose

2010-01-01

This literature review was conducted to evaluate the current state of evidence supporting communication interventions for individuals with severe intellectual and developmental disabilities. We reviewed 116 articles published between 1987 and 2007 in refereed journals meeting three criteria: (a) described a communication intervention, (b) involved…

State Health Care Financing Strategies for Children with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Bachman, Sara S.; Comeau, Margaret; Tobias, Carol; Allen, Deborah; Epstein, Susan; Jantz, Kathryn; Honberg, Lynda

2012-01-01

We provide the first descriptive summary of selected programs developed to help expand the scope of coverage, mitigate family financial hardship, and provide health and support services that children with intellectual and developmental disabilities need to maximize their functional status and quality of life. State financing initiatives were…

Transformation through Health Teaching for Adults with Intellectual and Developmental Disabilities: A Qualitative Study

ERIC Educational Resources Information Center

Focht-New, Ginny

2012-01-01

Adults with intellectual and developmental disabilities have medical conditions similar to those among the general population but with more complex presentation, a extended life expectancy, and increased risk of morbidity and mortality. These adults' health education has been inadequate. In this qualitative study, the author describes the…

Supporting Students with Intellectual and Developmental Disabilities to Attend College

ERIC Educational Resources Information Center

Griffin, Megan M.; Papay, Clare K.

2017-01-01

Students with intellectual and developmental disabilities (IDD), such as autism spectrum disorder and Down syndrome, have more opportunities to go to college than ever before (Hart, Grigal, & Weir, 2010). Over the last decade, the issue of increasing access to college for students with IDD has gained much national attention, in part due to…

Family Quality of Life of Australian Families with a Member with an Intellectual/Developmental Disability

ERIC Educational Resources Information Center

Rillotta, F.; Kirby, N.; Shearer, J.; Nettelbeck, T.

2012-01-01

Background: Family quality of life (FQOL) is a recent concept in intellectual/developmental disability research. Outcomes for the family are important to the provision of services because families, rather than institutions, are increasingly considered the primary support unit. This article presents Australian findings using the international…

A Friendships and Dating Program for Adults with Intellectual and Developmental Disabilities: A Formative Evaluation

ERIC Educational Resources Information Center

Ward, Karen M.; Atkinson, Julie P.; Smith, Curtis A.; Windsor, Richard

2013-01-01

Meaningful relationships with others are often elusive for people with intellectual and developmental disabilities, but no less desired for their full inclusion and participation in society. It is well documented that people with disabilities are victims of interpersonal violence at higher rates than peers without disabilities. This article…

Families of Individuals with Intellectual and Developmental Disabilities: Policy, Funding, Services, and Experiences

ERIC Educational Resources Information Center

Hewitt, Amy; Agosta, John; Heller, Tamar; Williams, Ann Cameron; Reinke, Jennifer

2013-01-01

Families are critical in the provision of lifelong support to individuals with intellectual and developmental disabilities (IDD). Today, more people with IDD receive long-term services and supports while living with their families. Thus, it is important that researchers, practitioners, and policy makers understand how to best support families who…

Stress in Caregivers of Individuals with Intellectual or Developmental Disabilities: A Systematic Review of Mindfulness-Based Interventions

ERIC Educational Resources Information Center

Ó Donnchadha, Seán

2018-01-01

Background: The efficacy of mindfulness-based interventions (MBIs) for stress and psychological distress in professional caregivers supporting individuals with intellectual or developmental disabilities (IDDs) is reviewed. Methods: Eight studies met inclusion criteria and were systematically reviewed, including RCTs and single-group designs.…

Are We There yet? Screening Processes for Intellectual and Developmental Disabilities in Jail Settings

ERIC Educational Resources Information Center

Scheyett, Anna; Vaughn, Jennie; Taylor, Melissa; Parish, Susan

2009-01-01

Early identification of intellectual and developmental disabilities in persons in the criminal justice system is essential to protect their rights during arrest and trial, ensure safety when incarcerated, and maximize the opportunities to receive services while incarcerated and postrelease. Using telephone interviews of jail administrators (N =…

Guide for Calculating and Interpreting Effect Sizes and Confidence Intervals in Intellectual and Developmental Disability Research Studies

ERIC Educational Resources Information Center

Dunst, Carl J.; Hamby, Deborah W.

2012-01-01

This paper includes a nontechnical description of methods for calculating effect sizes in intellectual and developmental disability studies. Different hypothetical studies are used to illustrate how null hypothesis significance testing (NHST) and effect size findings can result in quite different outcomes and therefore conflicting results. Whereas…

A Model for Pain Behavior in Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Meir, Lotan; Strand, Liv Inger; Alice, Kvale

2012-01-01

The dearth of information on the pain experience of individuals with intellectual and developmental disabilities (IDD) calls for a more comprehensive understanding of pain in this population. The Non-Communicating Adults Pain Checklist (NCAPC) is an 18-item behavioral scale that was recently found to be reliable, valid, sensitive and clinically…

SARC Literacy Activities Handbook: Supporting Literacy for People with Intellectual/Developmental Challenges.

ERIC Educational Resources Information Center

Lockert, Richard

This document is intended as a handbook for literacy practitioners working with adults with intellectual and/or developmental disabilities. The handbook is the product of the following activities: extensive research of the literature; discussion and exchange with literacy experts, practitioners, and some learners; and solicitation of input from…

Sensory Processing Dysfunctions as Expressed among Children with Different Severities of Intellectual Developmental Disabilities

ERIC Educational Resources Information Center

Engel-Yeger, Batya; Hardal-Nasser, Reem; Gal, Eynat

2011-01-01

High frequency of sensory processing dysfunctions (SPD) is prevalent among children with intellectual developmental disabilities and contributes to their maladaptive behaviors. However, the knowledge about the expressions of SPD in different levels of IDD severity is limited. As SPD may reduce adaptive responses and limit participation, this…

The Uptake of Secondary Prevention by Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Ouellette-Kuntz, H.; Cobigo, V.; Balogh, R.; Wilton, A.; Lunsky, Y.

2015-01-01

Background: Secondary prevention involves the early detection of disease while it is asymptomatic to prevent its progression. For adults with intellectual and developmental disabilities, secondary prevention is critical as they may not have the ability to recognize the early signs and symptoms of disease or lack accessible information about these.…

Developing and Implementing a Postsecondary Education Program for Young Adults with Intellectual and Developmental Disabilities: Processes and Procedure

ERIC Educational Resources Information Center

Francis, Grace L.; Gordon, Sarah; Kliethermes, Andrew J.; Regester, April; Baldini, Deborah; Grant, Amber

2018-01-01

Postsecondary education programs (PSEs) for young adults with intellectual and developmental disabilities in colleges and universities expand opportunities for these young adults and result in positive outcomes, including employment and improved social networks. Although participating in postsecondary education results in numerous benefits for…

Efficacy of an Electronic Editing Strategy with College Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Woods-Groves, Suzanne; Hua, Youjia; Ford, Jeremy W.; Neil, Katelyn M.

2017-01-01

In this study we investigated an editing strategy to develop effective proofreading skills (i.e., mechanics and substantive revisions) within electronic texts through an experimental pre- and posttest group design with random assignment. Fifteen college students with intellectual and developmental disabilities participated in this investigation.…

Adults with Intellectual and Developmental Disabilities and Participation in Decision Making: Ethical Considerations for Professional-Client Practice

ERIC Educational Resources Information Center

Lotan, Gurit; Ells, Carolyn

2010-01-01

In this article, the authors challenge professionals to re-examine assumptions about basic concepts and their implications in supporting adults with intellectual and developmental disabilities. The authors focus on decisions with significant implications, such as planning transition from school to adult life, changing living environments, and…

Data-Based Decisions Guidelines for Teachers of Students with Severe Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Jimenez, Bree A.; Mims, Pamela J.; Browder, Diane M.

2012-01-01

Effective practices in student data collection and implementation of data-based instructional decisions are needed for all educators, but are especially important when students have severe intellectual and developmental disabilities. Although research in the area of data-based instructional decisions for students with severe disabilities shows…

Use of Transition Resources by Primary Care Providers for Youth with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Dressler, Paul B.; Nguyen, Teresa K.; Moody, Eric J.; Friedman, Sandra L.; Pickler, Laura

2018-01-01

Youth with intellectual and developmental disabilities (IDD) often experience difficulties with successful transition from pediatric to adult healthcare. A consultative Transition Clinic for youth with IDD was piloted as a quality improvement project, and assessed the engagement of primary care providers (PCPs) for transition planning after…

Nutrition and Adults with Intellectual or Developmental Disabilities: Systematic Literature Review Results

ERIC Educational Resources Information Center

Humphries, Kathleen; Traci, Meg Ann; Seekins, Tom

2009-01-01

Approximately 4.5 million Americans have an intellectual or developmental disability. Concern is increasing about these individuals' nutrition-related behavior and its implications for their health. This article reports on a systematic search of the current literature listed in the "PsycINFO" and "PubMed" databases related to nutritional status of…

Validating Functional Measures of Physical Ability for Aging People with Intellectual Developmental Disability

ERIC Educational Resources Information Center

Maring, Joyce R.; Costello, Ellen; Birkmeier, Marisa C.; Richards, Maggie; Alexander, Lisa M.

2013-01-01

Unlike the aging population without intellectual and developmental disabilities (IDD), few standardized performance measures exist to assess physical function and risk for adverse outcomes such as nonfatal, unintentional injuries. We modified 3 selected standardized performance tools in the areas of general fitness (2-Minute Walk Test), balance…

Congregational Participation of a National Sample of Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Carter, Erik W.; Kleinert, Harold L.; LoBianco, Tony F.; Sheppard-­Jones, Kathleen; Butler, Laura N.; Tyree, Milton S.

2015-01-01

Supporting people with intellectual and developmental disabilities (IDD) to thrive requires careful consideration of multiple avenues of community involvement. Yet little attention has focused on the place of faith community participation in the lives of adults with IDD. We examined attendance at religious services using National Core Indicator…

Clinical Decision Making and Preference Assessment for Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Virués-Ortega, Javier; Pritchard, Kristen; Grant, Robin L.; North, Sebastian; Hurtado-Parrado, Camilo; Lee, May S. H.; Temple, Bev; Julio, Flavia; Yu, C. T.

2014-01-01

Individuals with intellectual or developmental disabilities are able to reliably express their likes and dislikes through direct preference assessment. Preferred items tend to function as rewards and can therefore be used to facilitate the acquisition of new skills and promote task engagement. A number of preference assessment methods are…

Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Gilchrist, Kristin H.; Hegarty-Craver, Meghan; Christian, Robert B.; Grego, Sonia; Kies, Ashley C.; Wheeler, Anne C.

2018-01-01

Repetitive sensory motor behaviors are a direct target for clinical treatment and a potential treatment endpoint for individuals with intellectual or developmental disabilities. By removing the burden associated with video annotation or direct observation, automated detection of stereotypy would allow for longer term monitoring in ecologic…

Demystifying Moderators and Mediators in Intellectual and Developmental Disabilities Research: A Primer and Review of the Literature

ERIC Educational Resources Information Center

Farmer, C.

2012-01-01

Background: Intellectual and developmental disability (IDD) researchers have been relatively slow to adopt the search for moderators and mediators, although these variables are key in understanding how and why relationships exist between variables. Although the traditional method of causal steps is useful for describing and understanding…

Informing and Equipping Parents of People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Gilson, Cathy B.; Bethun, Lauren K.; Carter, Erik W.; McMillan, Elise D.

2017-01-01

The importance of supporting families with members who have intellectual and developmental disabilities (IDD) is well established in both policy and research. Yet little is known about how familiar parents are with existing resources (e.g., programs, supports, trainings), what information they would consider most helpful, and how they would prefer…

Theory of Mind "Emotion", Developmental Characteristics and Social Understanding in Children and Adolescents with Intellectual Disabilities

ERIC Educational Resources Information Center

Thirion-Marissiaux, Anne-Francoise; Nader-Grosbois, Nathalie

2008-01-01

Patterns of development of ToM-emotion abilities in intellectually disabled (ID) children and typically developing (TD) children matched on their developmental age were investigated. The links between cognition, language, social understanding and ToM-emotion abilities were examined. EDEI-R (Perron-Borelli, M. (1996). "Echelles Differentielles…

Theory of Mind "Beliefs", Developmental Characteristics and Social Understanding in Children and Adolescents with Intellectual Disabilities

ERIC Educational Resources Information Center

Thirion-Marissiaux, Anne-Francoise; Nader-Grosbois, Nathalie

2008-01-01

Patterns of development of ToM belief abilities in intellectually disabled (ID) children and typically developing (TD) children matched on their developmental age were investigated. The links between cognition, language, social understanding and ToM belief abilities were examined. EDEI-R [Perron-Borelli M. (1996). "Echelles Differentielles…

Psychiatric Services for Individuals with Intellectual and Developmental Disabilities: Medication Management

ERIC Educational Resources Information Center

Russell, Andrew T.; Hahn, Joan Earle; Hayward, Katharine

2011-01-01

The purpose of this study was to describe the medication management and treatment provided in a specialty outpatient psychiatry clinic for 198 community-residing children and adults with intellectual disability and other developmental disabilities (IDD) referred to the clinic and discharged between 1999 and 2008. Using a descriptive design, data…

"The Most Defining Experience": Undergraduate University Students' Experiences Mentoring Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Ryan, Susan M.; Nauheimer, Jeanne M.; George, Cassandra L.; Dague, E. Bryan

2017-01-01

In this three-year qualitative study we investigated the experiences and perspectives of university undergraduate students who were peer mentors for students with intellectual and developmental disabilities (ID/DD) in a postsecondary education certificate program at a public university in the northeastern United States. The findings were…

Developmental and Communication Disorders in Children with Intellectual Disability: The Place Early Intervention for Effective Inclusion

ERIC Educational Resources Information Center

Jacob, Udeme Samuel; Olisaemeka, Angela Nneka; Edozie, Isioma Sitamalife

2015-01-01

The paper attempts to discuss the place of intervention in the developmental and communication disorders of children with intellectual disability for the purpose of providing effective inclusion programme. The definition of early intervention was stated, areas affected by children communication disorder such as language comprehension, fluency,…

Reproductive Cancer Treatment Hospitalizations of U.S. Women with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Parish, Susan L.; Son, Esther; Powell, Robyn M.; Igdalsky, Leah

2018-01-01

There is a dearth of existing research on the treatment of reproductive cancers among women with intellectual and developmental disabilities (IDD). This study analyzed the 2010 Healthcare Cost and Utilization Project Nationwide Inpatient Sample and compared the prevalence of reproductive cancer treatment hospitalization discharges among women with…

Using Administrative Health Data to Identify Individuals with Intellectual and Developmental Disabilities: A Comparison of Algorithms

ERIC Educational Resources Information Center

Lin, E.; Balogh, R.; Cobigo, V.; Ouellette-Kuntz, H.; Wilton, A. S.; Lunsky, Y.

2013-01-01

Background: Individuals with intellectual and developmental disabilities (IDD) experience high rates of physical and mental health problems; yet their health care is often inadequate. Information about their characteristics and health services needs is critical for planning efficient and equitable services. A logical source of such information is…

A Comprehensive Guide to Intellectual and Developmental Disabilities. Second Edition

ERIC Educational Resources Information Center

Wehmeyer, Michael L.. Ed.; Brown, Ivan, Ed.; Percy, Maire, Ed.; Fung, W. L. Alan, Ed.; Shogren, Karrie A., Ed.

2017-01-01

The trusted core disability textbook gets a comprehensive update in this second edition, now thoroughly revised to include all the critical topics today's professionals need to know about as they work with people who have intellectual and developmental disabilities. Brought to you by a new team of world-renowned experts and contributors, this…

Intellectual Disability and Developmental Risk: Promoting Intervention to Improve Child and Family Well-Being

ERIC Educational Resources Information Center

Crnic, Keith A.; Neece, Cameron L.; McIntyre, Laura Lee; Blacher, Jan; Baker, Bruce L.

2017-01-01

Initial intervention processes for children with intellectual disabilities (IDs) largely focused on direct efforts to impact core cognitive and academic deficits associated with the diagnosis. Recent research on risk processes in families of children with ID, however, has influenced new developmental system approaches to early intervention. Recent…

Trauma in People with Intellectual and Developmental Disabilities: Reactions of Parents and Caregivers to Research Participation

ERIC Educational Resources Information Center

Scotti, Joseph R.; Stevens, Sarah B.; Jacoby, Vanessa M.; Bracken, Magdalene R.; Freed, Rachel; Schmidt, Elizabeth

2012-01-01

Generally, studies have revealed that only a minority of people are bothered by participation in research on traumatic stress. Severity of traumatic events and subsequent responses are typically unrelated to negative reactions. We included 386 family members and caregivers (respondents) of people with intellectual and developmental disabilities…

The Effects of Psychopathology on the Pain Expression of Children and Youth with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Breau, Lynn M.; Camfield, Carol S.

2011-01-01

Behavioral pain assessment is possible for children and youth with intellectual and developmental disabilities (IDD). However, pain behavior is often misinterpreted as reflecting psychopathology. We examined whether psychopathology alters pain behavior. Caregivers of 123 children (56 girls ages 40 to 258 months) completed the Non-Communicating…

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

PubMed

Uwineza, Annette; Caberg, Jean-Hubert; Hitayezu, Janvier; Hellin, Anne Cecile; Jamar, Mauricette; Dideberg, Vinciane; Rusingiza, Emmanuel K; Bours, Vincent; Mutesa, Leon

2014-07-12

Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform. Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.

Parenting education for parents with intellectual disabilities: a review of outcome studies.

PubMed

Feldman, M A

1994-01-01

Parents with intellectual disabilities (i.e., IQ < 80; mental retardation) are overrepresented in child maltreatment cases and have a variety of parenting skill deficits. Their children are at risk for neglect, developmental delay, and behavioral disorders. This review of parenting education interventions for such parents identified 20 published studies with adequate outcome data. A total of 190 such parents (188 mothers, 2 fathers), with IQs ranging from 50 to 79 were involved. Parenting skills trained included basic child-care, safety, nutrition, problem solving, positive parent-child interactions, and child behavior management. The most common instructional approach was behavioral (e.g., task analysis, modeling, feedback, reinforcement). Overall, initial training, follow-up, and social validity results are encouraging. Generalization and child outcome data are weak. Further research is needed to (a) identify variables associated with responsiveness to intervention, and (b) develop and compare innovative programs that teach parents with cognitive disabilities the necessary generalized skills to demonstrate long-term beneficial effects on their children.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PubMed

Min Ko, Jung; Cho, Jae So; Yoo, Yongjin; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; Lee, Hye-Ran; Cho, Tae-Joon

2017-02-01

Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

PubMed

Tessadori, Federico; Giltay, Jacques C; Hurst, Jane A; Massink, Maarten P; Duran, Karen; Vos, Harmjan R; van Es, Robert M; Scott, Richard H; van Gassen, Koen L I; Bakkers, Jeroen; van Haaften, Gijs

2017-11-01

Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis. More recently, modifications affecting the globular histone core have been uncovered as being crucial for DNA repair, pluripotency and oncogenesis. Here we report monoallelic missense mutations affecting lysine 91 in the histone H4 core (H4K91) in three individuals with a syndrome of growth delay, microcephaly and intellectual disability. Expression of the histone H4 mutants in zebrafish embryos recapitulates the developmental anomalies seen in the patients. We show that the histone H4 alterations cause genomic instability, resulting in increased apoptosis and cell cycle progression anomalies during early development. Mechanistically, our findings indicate an important role for the ubiquitination of H4K91 in genomic stability during embryonic development.

Access to services, quality of care, and family impact for children with autism, other developmental disabilities, and other mental health conditions.

PubMed

Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire

2014-10-01

This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with Special Health Care Needs was utilized to examine the association between child's special needs condition and three outcomes (N = 18,136): access to services (difficulty using services, difficulty getting referrals, lack of source of care, and inadequate insurance coverage), quality of care (lack of care coordination, lack of shared decision making, and no routine screening), and family impact (financial, employment, and time-related burden). Multivariate logistic regressions were performed to compare caregivers of children with autism spectrum disorders to caregivers of children with developmental disabilities (cerebral palsy, Down syndrome, developmental delay, or intellectual disability), mental health conditions (attention deficit hyperactivity disorder, anxiety, behavioral/conduct problems, or depression), or both developmental disabilities and mental health conditions. Caregivers of children with autism spectrum disorders were significantly more likely to report difficulty using services, lack of source of care, inadequate insurance coverage, lack of shared decision making and care coordination, and adverse family impact as compared to caregivers of children with developmental disabilities, mental health conditions, or both. © The Author(s) 2013.

Increasing Literacy Skills for Students with Intellectual and Developmental Disabilities: Effects of Integrating Comprehensive Reading Instruction with Sign Language

ERIC Educational Resources Information Center

Beecher, Larissa; Childre, Amy

2012-01-01

This study evaluated the impact of a comprehensive reading program enhanced with sign language on the literacy and language skills of three elementary school students with intellectual and developmental disabilities. Students received individual and small group comprehensive reading instruction for approximately 55 minutes per session. Reading…

Improving Social Understanding of Individuals of Intellectual and Developmental disabilities through a 3D-Facial Expression Intervention Program

ERIC Educational Resources Information Center

Cheng, Yufang; Chen, Shuhui

2010-01-01

Individuals with intellectual and developmental disabilities (IDD) have specific difficulties in cognitive social-emotional capability, which affect numerous aspects of social competence. This study evaluated the learning effects of using 3D-emotion system intervention program for individuals with IDD in learning socially based-emotions capability…

Examining Emerging Strategies to Prevent Sexual Violence: Tailoring to the Needs of Women with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Stevens, Bethany

2012-01-01

Sexual violence (SV) negatively impacts women with disabilities disproportionately, especially those with intellectual and/or developmental disabilities (IDD). The 2 populations are included in this article as there are overlaps in diagnostic criteria as well as similar risk factors associated with the experience of SV. Despite lacking…

Later Life Impacts of Social Participation on Parents of Adult Offspring with and without Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Olsen, Darren L.

2018-01-01

Social participation is an important resource for parents in old age, and may be particularly important for parents living with adult offspring with intellectual and developmental disabilities. To evaluate whether socializing with friends and family and participating in social organizations protects against depression in old age, this study…

Effectiveness of a Caregiver Education Program on Providing Oral Care to Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Fickert, Nancy A.; Ross, Diana

2012-01-01

Caregivers who work in community living arrangements or intermediate care facilities are responsible for the oral hygiene of individuals with intellectual and developmental disabilities. Oral hygiene training programs do not exist in many organizations, despite concerns about the oral care of this population. The purpose of this study was to…

Descriptors of Friendship between Secondary Students with and without Autism or Intellectual and Developmental Disability

ERIC Educational Resources Information Center

Rossetti, Zachary

2015-01-01

This article reports findings from an interpretevist, qualitative study exploring the connections and dynamics of friendship among three groups of secondary school-aged young adults. Each group included an individual with autism or intellectual and developmental disabilities who had extensive or pervasive support needs, and at least one high…

Barriers to Sexuality for Individuals with Intellectual and Developmental Disabilities: A Literature Review

ERIC Educational Resources Information Center

Sinclair, James; Unruh, Deanne; Lindstrom, Lauren; Scanlon, David

2015-01-01

Individuals with intellectual and developmental disabilities (ID/DD) experience multiple barriers that may prevent them from understanding and exploring their own sexuality. These barriers prevent them from achieving the same autonomy and quality of life as their peers. This research synthesis focuses on 13 articles published between 2000 and 2013…

Learning to Apply Algebra in the Community for Adults with Intellectual Developmental Disabilities

ERIC Educational Resources Information Center

Rodriguez, Anthony M.

2016-01-01

Students with intellectual and developmental disabilities (IDD) are routinely excluded from algebra and other high-level mathematics courses. High school students with IDD take courses in arithmetic and life skills rather than having an opportunity to learn algebra. Yet algebra skills can support the learning of money and budgeting skills. This…

Home- and Community-Based Speech, Language, and Hearing Services for People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Friedman, Carli; McNamara, Ellyn

2018-01-01

Speech language and hearing (SLH) services can improve people with intellectual and developmental disabilities' (IDD) health, autonomy, and community participation. The aim of this study was to explore how SLH services are offered to people with IDD across the nation, particularly in fiscal year 2015 Medicaid Home and Community Based Services…

Participant Direction for People with Intellectual and Developmental Disabilities in Medicaid Home and Community Based Services Waivers

ERIC Educational Resources Information Center

Friedman, Carli

2018-01-01

Participant direction allows people with intellectual and developmental disabilities (IDD) and/or their families to direct services; in doing so, participant direction shifts participants from passive recipients to active consumers. Medicaid encourages, but does not require, states to allow participant direction. The aim of this study was to…

Psychometric Properties of Two Measures of Crisis and Distress in Parents of Children with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Benninger, Tara L.; Witwer, Andrea N.

2017-01-01

Introduction: Parents and their children with Intellectual and Developmental Disabilities (IDD) are under significant amounts of stress (Lecavalier, Leone & Wiltz, 2006). When stress escalates to crisis, some children with IDD are admitted to the emergency department or an inpatient unit. While existing measures evaluate stress over time, we…

Evaluation of an Approach to Weight Loss in Adults with Intellectual or Developmental Disabilities

ERIC Educational Resources Information Center

Saunders, Richard R.; Saunders, Muriel D.; Donnelly, Joseph E.; Smith, Bryan K.; Sullivan, Debra K.; Guilford, Brianne; Rondon, Mary F.

2011-01-01

Of 79 overweight adults with intellectual or developmental disabilities who participated in a weight loss intervention, 73 completed the 6-month diet phase. The emphasis in the intervention was consumption of high volume, low calorie foods and beverages, including meal-replacement shakes. Lower calorie frozen entrees were recommended to control…

Health Services Use and Costs for Americans with Intellectual and Developmental Disabilities: A National Analysis

ERIC Educational Resources Information Center

Fujiura, Glenn T.; Li, Henan; Magaña, Sandy

2018-01-01

Health services and associated costs for adults with intellectual and developmental disabilities (IDD) were nationally profiled and the predictors of high expense users statistically modeled. Using linked data from the National Health Interview Survey and Medical Expenditure Panel Survey for the years 2002 through 2011, the study found a mixed…

Ecological Human Brain and Young Children's "Naturalist Intelligence" from the Perspective of Developmentally and Culturally Appropriate Practice (DCAP).

ERIC Educational Resources Information Center

Hyun, Eunsook

Based on the view that young children have a different intellectual culture from adults' in the way they know and understand nature, this paper explores ecological human brain development, children's intellectual culture of naturalist intelligence, and developmentally and culturally congruent curricula for young children. The paper discusses the…

Systematic Review of Instructional Methods to Teach Employment Skills to Secondary Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Gilson, Carly B.; Carter, Erik W.; Biggs, Elizabeth E.

2017-01-01

Effective vocational instruction is an essential aspect of preparing students with intellectual and developmental disabilities (IDD) for the world of work. We systematically reviewed research on instructional methods used to teach employment skills to secondary students with IDD. We identified 56 studies involving 766 participants with IDD. Four…

Pain Disrupts Sleep in Children and Youth with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Breau, Lynn M.; Camfield, Carol S.

2011-01-01

Both chronic pain and sleep problems are common for children with intellectual and developmental disabilities (IDD). Although one study has revealed a relationship between having a medical condition and sleep problems in this population, the role of pain was not examined independently. Thus, the goal of this study was to clarify the specific role…

Monoamine Oxidase a Promoter Gene Associated with Problem Behavior in Adults with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

May, Michael E.; Srour, Ali; Hedges, Lora K.; Lightfoot, David A.; Phillips, John A., III; Blakely, Randy D.; Kennedy, Craig H.

2009-01-01

A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a…

A Review of Commonly-Used State Employment Measures in Intellectual and Developmental Disability Services. Policy Research Brief. Volume 22, Number 1

ERIC Educational Resources Information Center

Nord, Derek

2012-01-01

This "Policy Research Brief" summarizes publicly-available data sources that provide information about the employment of people with intellectual and developmental disabilities. It provides important information about these data sources, including their purposes, key definitions, and where to access the public data. Using these data…

Judicial Reliance on Parental IQ in Appellate-Level Child Welfare Cases Involving Parents with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Callow, Ella; Tahir, Munazza; Feldman, Maurice

2017-01-01

Background: Parents with intellectual and developmental disabilities (IDDs) are over-represented in child welfare cases. Although IQ "per se" is an invalid indicator of parenting abilities, this study examined the prevalence of judicial consideration of parental IQ test evidence in US appellate cases. Methods: The present authors…

U.S. Emergency Department Admissions for Nontraumatic Dental Conditions for Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Chi, Donald L.; Masterson, Erin E.; Wong, Jacqueline J.

2014-01-01

The authors hypothesized that individuals with intellectual and developmental disabilities (IDDs) are more likely to have an emergency department (ED) admission for nontraumatic dental conditions (NTDCs). The authors analyzed 2009 U.S. National Emergency Department Sample data and ran logistic regression models for children ages 3-17 years and…

Self-Report Computer-Based Survey of Technology Use by People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Tanis, Emily Shea; Palmer, Susan; Wehmeyer, Michael; Davies, Daniel K.; Stock, Steven E.; Lobb, Kathy; Bishop, Barbara

2012-01-01

Advancements of technologies in the areas of mobility, hearing and vision, communication, and daily living for people with intellectual and developmental disabilities has the potential to greatly enhance independence and self-determination. Previous research, however, suggests that there is a technological divide with regard to the use of such…

Mortality of People with Intellectual and Developmental Disabilities from Select US State Disability Service Systems and Medical Claims Data

ERIC Educational Resources Information Center

Lauer, Emily; McCallion, Philip

2015-01-01

Background: Monitoring population trends including mortality within subgroups such as people with intellectual and developmental disabilities and between countries provides crucial information about the population's health and insights into underlying health concerns and the need for and effectiveness of public health efforts. Methods: Data from…

Exploring How Knowledge Translation Can Improve Sustainability of Community-Based Health Initiatives for People with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

Spassiani, Natasha A.; Parker Harris, Sarah; Hammel, Joy

2016-01-01

Community-based health initiatives (CBHI) play an important role in maintaining the health, function and participation of people with intellectual/developmental disabilities (I/DD) living in the community. However, implementation and long-term sustainability of CBHI is challenging. The Promoting Action on Research Implementation in Health Services…

Family Caregivers of Adults with Intellectual and Developmental Disabilities: Outcomes Associated with U.S. Services and Supports

ERIC Educational Resources Information Center

Williamson, Heather J.; Perkins, Elizabeth A.

2014-01-01

Individuals with intellectual and developmental disabilities (IDD) in the U.S. predominantly live with their family caregivers. As care delivery and support systems vary widely globally, consideration of caregiver outcomes specifically in the U.S. context is needed. A systematic literature review was conducted to identify U.S. family caregiver…

Using 21st Century Video Prompting Technology to Facilitate the Independence of Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Cullen, Jennifer M.; Simmons-Reed, Evette A.; Weaver, Lindy

2017-01-01

Barriers in acquiring, maintaining, and generalizing daily living skills are factors that contribute to discrepancies in independent living outcomes among transition age youth and young adults with intellectual and developmental disabilities (IDD). Acquisition and generalization of daily living skills empowers transition age youth and young adults…

Obesity and Obesity-Related Secondary Conditions in Adolescents with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

Rimmer, J. H.; Yamaki, K.; Davis Lowry, B. M.; Wang, E.; Vogel, L. C.

2010-01-01

Background: To explore the prevalence of obesity and related secondary conditions associated with obesity in adolescents with intellectual/developmental disabilities (IDD). Methods: In total, 461 parents of adolescents with IDD (M = 14.9 year, SD = 1.9) across 49 US states completed a web-based survey containing questions related to their child's…

Self-Reported Psychological Wellbeing in Adolescents: The Role of Intellectual/Developmental Disability and Gender

ERIC Educational Resources Information Center

Boström, P.; Åsberg Johnels, J.; Broberg, M.

2018-01-01

Background: The Wellbeing in Special Education Questionnaire was developed to assess subjective wellbeing in young persons with intellectual and developmental disabilities (ID/DD) as this perspective is rarely included in research. The present study explored how ID/DD and gender are related to self-reported wellbeing among adolescents. Method:…

CAPs-IDD: Characteristics of Assessment Instruments for Psychiatric Disorders in Persons with Intellectual Developmental Disorders

ERIC Educational Resources Information Center

Zeilinger, E. L.; Nader, I. W.; Brehmer-Rinderer, B.; Koller, I.; Weber, G.

2013-01-01

Background: Assessment of psychiatric disorders in persons with an intellectual developmental disorder (IDD) can be performed with a variety of greatly differing instruments. This makes the choice of an instrument best suited for the intended purpose challenging. In this study, we developed a comprehensive set of characteristics for the evaluation…

The State of the Science of Health and Wellness for Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Anderson, Lynda Lahti; Humphries, Kathy; McDermott, Suzanne; Marks, Beth; Sisirak, Jasmina; Larson, Sheryl

2013-01-01

Historically, people with intellectual and developmental disabilities (IDD) have experienced health disparities related to several factors including: a lack of access to high quality medical care, inadequate preparation of health care providers to meet their needs, the social determinants of health (e.g., poverty, race and gender), and the failure…

Identifying the Correlates and Barriers of Future Planning among Parents of Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Burke, Meghan; Arnold, Catherine; Owen, Aleksa

2018-01-01

Although individuals with intellectual and developmental disabilities (IDD) are living longer lives, fewer than half of parents of individuals with IDD conduct future planning. The correlates and barriers to future planning must be identified to develop targeted interventions to facilitate future planning. In this study, 388 parents of individuals…

Understanding the Diversity: A Taxonomy for Postsecondary Education Programs and Services for Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

McEathron, Mary A.; Beuhring, Trisha; Maynard, Amelia; Mavis, Ann

2013-01-01

The number of postsecondary education (PSE) programs for individuals with intellectual and developmental disabilities (IDD) has been steadily growing over the last few decades. There has been little public information regarding these programs and schools. Consequently, students, families, and researchers alike lack details about the various…

Self-Directed Support: Impact of Hiring Practices on Adults with Intellectual and Developmental Disabilities and Families

ERIC Educational Resources Information Center

Heller, Tamar; Arnold, Catherine K.; van Heumen, Lieke; McBride, Elizabeth L.; Factor, Alan

2012-01-01

The study examined the differential experiences and outcomes for people with intellectual and developmental disabilities and their families receiving self-directed services based on the type of personal support worker hired (parents, siblings, other relatives, friends, and agency staff). The sample consisted of 372 participants in a self-directed…

Cross-Cultural Validity of the Social Communication Questionnaire for Adults with Intellectual Developmental Disorder

ERIC Educational Resources Information Center

Sappok, Tanja; Brooks, Whitney; Heinrich, Manuel; McCarthy, Jane; Underwood, Lisa

2017-01-01

Diagnosing Autism Spectrum Disorders (ASD) is important throughout the lifespan. The objective was to investigate the transcultural diagnostic validity of the Social Communication Questionnaire (SCQ) in a clinical sample of 451 adults with Intellectual Developmental Disorder (IDD) with and without ASD in Germany, the U.S.A. and Great Britain.…

The Handbook of High-Risk Challenging Behaviors in People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Luiselli, James K., Ed.

2012-01-01

Aggressive and destructive behaviors are an ongoing challenge for many children, adolescents, and adults with intellectual and developmental disabilities (I/DD). What's behind these high-risk behaviors, and how can professionals help manage them? Discover the answers in this comprehensive text, the most up-to-date compendium of knowledge on…

Health Profile of Aging Family Caregivers Supporting Adults with Intellectual and Developmental Disabilities at Home

ERIC Educational Resources Information Center

Yamaki, Kiyoshi; Hsieh, Kelly; Heller, Tamar

2009-01-01

The health status of 206 female caregivers supporting adults with intellectual and developmental disabilities at home was investigated using objective (i.e., presence of chronic health conditions and activity limitations) and subjective (i.e., self-perceived health status) health measures compared with those of women in the general population in 2…

Are Cervical and Breast Cancer Screening Programmes Equitable? The Case of Women with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Cobigo, V.; Ouellette-Kuntz, H.; Balogh, R.; Leung, F.; Lin, E.; Lunsky, Y.

2013-01-01

Background: Effective cancer screening must be available for all eligible individuals without discrimination. Lower rates of cervical and breast cancer screening have been reported in certain groups compared with women from the general population, such as women with intellectual and developmental disabilities (IDD). Research on the factors…

Assessing Emotional and Behavioral Problems in Children with Intellectual Disability: Revisiting the Factor Structure of the Developmental Behaviour Checklist.

ERIC Educational Resources Information Center

Dekker, Marielle C.; Nunn, Russell J.; Einfeld, Stewart E.; Tonge, Bruce J.; Koot, Hans M.

2002-01-01

Analysis of parent and teacher Developmental Behavior Checklist (DBC) ratings on a combined sample of 1,536 Dutch and Australian children (ages 3-22) with mild to profound intellectual disabilities produced five subscales: Disruptive/Antisocial, Self-Absorbed, Communication Disturbance, Anxiety, and Social Relating. Internal consistency of the…

In-Service Assistive Technology Training to Support People with Intellectual and Developmental Disabilities: A Case Study

ERIC Educational Resources Information Center

Haynes, Scott

2013-01-01

Assistive technology (AT) benefits many individuals with intellectual and developmental disabilities (IDD). The appropriate application of accommodation solutions, whether they involve the use of AT or not, can be a complex process involving a team of people with various backgrounds. This article describes an in-service AT training program that…

A Delphi Study on Staff Bereavement Training in the Intellectual and Developmental Disabilities Field

ERIC Educational Resources Information Center

Gray, Jennifer A.; Truesdale, Jesslyn

2015-01-01

The Delphi technique was used to obtain expert panel consensus to prioritize content areas and delivery methods for developing staff grief and bereavement curriculum training in the intellectual and developmental disabilities (IDD) field. The Delphi technique was conducted with a panel of 18 experts from formal and informal disability caregiving,…

The State of the Science of Employment and Economic Self-Sufficiency for People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Nord, Derek; Luecking, Richard; Mank, David; Kiernan, William; Wray, Christina

2013-01-01

Employment, career advancement, and financial independence are highly valued in the United States. As expectations, they are often instilled at a young age and incentivized throughout adulthood. Despite their importance, employment and economic sufficiency continue to be out of reach for most people with intellectual and developmental disabilities…

Experiences of Families with Relatives with Intellectual and Developmental Disabilities in a Consumer-Directed Support Program

ERIC Educational Resources Information Center

Caldwell, Joe

2007-01-01

The current study explores the experiences of families with relatives with intellectual and developmental disabilities participating in a consumer-directed support program in the USA. The Illinois Home Based Support Services Program provides a limited budget to purchase and manage services. However, within recent years the program has faced cuts…

Intellectual developmental disorders in Mexico: a call for programmes promoting independence and inclusion.

PubMed

Katz, Gregorio; Corona, Edgar; Lazcano-Ponce, Eduardo

2016-08-01

This paper describes an innovative institution, Capacitación y Desarrollo Integral AC (CADI - Comprehensive Training and Development), created in Mexico to develop evidence-based interventions grounded in the principles of inclusion, independence, social and health equity that promote the well-being of persons with intellectual developmental disorder older than 14 years.

United States Living Arrangements of People with Intellectual and/or Developmental Disabilities in 1995

ERIC Educational Resources Information Center

Larson, Sheryl A.; Doljanac, Robert; Lakin, K. Charlie

2005-01-01

In the United States, data on the number of people with intellectual or developmental disabilities (ID/DD) living in institutional and other congregate care settings have been gathered and reported since 1977 through the Residential Information Systems Program (RISP) at the University of Minnesota (e.g., Prouty & Lakin, 1997). These data were…

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

PubMed

Battaglia, Agatino

2008-11-19

The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to profound. Expressive language is absent or very poor and often echolalic. Comprehension is very limited and contextual. Intention to communicate is absent or very limited. The distinct behavioral disorder shown by children and adolescents has been widely described as autistic or autistic-like. Epilepsy with a wide variety of seizure types can occur in these individuals, with onset between 6 months and 9 years. Various EEG abnormalities have been described. Muscle hypotonia is observed in almost all individuals, associated, in most of them, with joint hyperextensibility and drooling. Facial dysmorphic features are absent or subtle, and major malformations are rare. Feeding difficulties are reported in the newborn period.Chromosome region 15q11q13, known for its instability, is highly susceptible to clinically relevant genomic rearrangements, such as supernumerary marker chromosomes formed by the inverted duplication of proximal chromosome 15. Inv dup(15) results in tetrasomy 15p and partial tetrasomy 15q. The large rearrangements, containing the Prader-Willi/Angelman syndrome critical region (PWS/ASCR), are responsible for the inv dup(15) or idic(15) syndrome. Diagnosis is achieved by standard cytogenetics and FISH analysis, using probes both from proximal chromosome 15 and from the PWS/ASCR. Microsatellite analysis on parental DNA or methylation analysis on the proband DNA, are also needed to detect the parent-of-origin of the inv dup(15) chromosome. Array CGH has been shown to provide a powerful approach for identifying and detecting the extent of the duplication. The possible occurrence of double supernumerary isodicentric chromosomes derived from chromosome 15, resulting in partial hexasomy of the maternally inherited PWS/ASCR, should be considered in the differential diagnosis. Large idic(15) are nearly always sporadic. Antenatal diagnosis is possible. Management of inv dup(15) includes a comprehensive neurophysiologic and developmental evaluation. Survival is not significantly reduced.

14 CFR 1274.208 - Intellectual property.

Code of Federal Regulations, 2013 CFR

2013-01-01

... business organization for experimental, developmental, research, design or engineering work in support of... WITH COMMERCIAL FIRMS Pre-Award Requirements § 1274.208 Intellectual property. (a) Intellectual... similar arrangement) with a domestic nonprofit organization or a small business firm for experimental...

14 CFR 1274.208 - Intellectual property.

Code of Federal Regulations, 2010 CFR

2010-01-01

... business organization for experimental, developmental, research, design or engineering work in support of... WITH COMMERCIAL FIRMS Pre-Award Requirements § 1274.208 Intellectual property. (a) Intellectual... similar arrangement) with a domestic nonprofit organization or a small business firm for experimental...

14 CFR 1274.208 - Intellectual property.

Code of Federal Regulations, 2012 CFR

2012-01-01

... business organization for experimental, developmental, research, design or engineering work in support of... WITH COMMERCIAL FIRMS Pre-Award Requirements § 1274.208 Intellectual property. (a) Intellectual... similar arrangement) with a domestic nonprofit organization or a small business firm for experimental...

Contraceptive Provision to Postpartum Women With Intellectual and Developmental Disabilities: A Population-Based Cohort Study.

PubMed

Brown, Hilary K; Kirkham, Yolanda A; Lunsky, Yona; Cobigo, Virginie; Vigod, Simone N

2018-05-29

Women with intellectual and developmental disabilities who experience pregnancy, like all women, require postpartum care that supports their contraceptive knowledge and decision making. Yet, little is known about the postpartum contraceptive care these women receive, or how it compares with care given to other women. A population-based study using linked health and social services administrative data examined provision of postpartum contraceptive care to women who had a live birth in Ontario, Canada, in 2002-2014 and were beneficiaries of Ontario's publicly funded drug plan. Modified Poisson regression was used to compare care between 1,181 women with and 36,259 women without intellectual and developmental disabilities. Outcomes were provision of any nonbarrier contraceptive in the year following the birth and type of method provided. In the first year postpartum, women with intellectual and developmental disabilities were provided with contraceptives at a higher rate than were other women (relative risk 1.3); the difference was significant for both nonsurgical and surgical methods (1.2 and 1.8, respectively). The higher rate of nonsurgical contraceptive provision was explained by provision of injectables (1.9); there were no differences for pills or IUDs. Nonbarrier contraceptives may be the most appropriate methods for some women with intellectual and developmental disabilities. However, future research should investigate why women with such disabilities are more likely than others to receive injectable contraceptives, which have possible negative side effects, and surgical contraception, which is irreversible. Research also should investigate how these women perceive their participation in contraceptive decision making. Copyright © 2018 by the Guttmacher Institute.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PubMed

Chao, Hsiao-Tuan; Davids, Mariska; Burke, Elizabeth; Pappas, John G; Rosenfeld, Jill A; McCarty, Alexandra J; Davis, Taylor; Wolfe, Lynne; Toro, Camilo; Tifft, Cynthia; Xia, Fan; Stong, Nicholas; Johnson, Travis K; Warr, Coral G; Yamamoto, Shinya; Adams, David R; Markello, Thomas C; Gahl, William A; Bellen, Hugo J; Wangler, Michael F; Malicdan, May Christine V

2017-01-05

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression. However, human neurodevelopmental disorders related to EBF3 have not been reported. Here, we describe three individuals who are affected by global developmental delay, intellectual disability, and expressive speech disorder and carry de novo variants in EBF3. Associated features seen in these individuals include congenital hypotonia, structural CNS malformations, ataxia, and genitourinary abnormalities. The de novo variants affect a single conserved residue in a zinc finger motif crucial for DNA binding and are deleterious in a fly model. Our findings indicate that mutations in EBF3 cause a genetic neurodevelopmental syndrome and suggest that loss of EBF3 function might mediate a subset of neurologic phenotypes shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structural CNS malformations. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Timing of First Dental Visits for Newly Medicaid-Enrolled Children With an Intellectual or Developmental Disability in Iowa, 2005–2007

PubMed Central

Momany, Elizabeth T.; Jones, Michael P.; Damiano, Peter C.

2011-01-01

Objectives. We evaluated the relationship between having an intellectual or developmental disability (IDD) and the timing of the first dental visit for children who were newly enrolled in Medicaid in Iowa. Methods. We identified children aged 3 to 8 years with and without IDD who were newly enrolled in the Iowa Medicaid program in 2005 (N = 5391). We gathered data on presence of IDD, health status, age at baseline, gender, length of Medicaid enrollment, medical care visits, household Medicaid enrollment, urbanization, residence in a federally designated Health Professional Shortage Area (HPSA), and time of first dental visit through 2007. Results. About 32% of children had a first dental visit within 6 months of enrollment; this proportion increased to 49%, 64%, and 74% by years 1, 2, and 3, respectively. In the unadjusted models, there was no significant difference between children with and without IDD in time to first dental visit (P = .22). After adjusting for model covariates, however, children with IDD were 31% more likely to have a delayed first dental visit (P = .04). Conclusions. Newly Medicaid-enrolled children aged 3 to 8 years with IDD in Iowa were significantly more likely to have a later first dental visit. Future interventions should focus on ensuring timely access to first dental visits for all Medicaid-enrolled children, with an emphasis on those with IDD. PMID:21088261

Social Competence in Children with Borderline Intellectual Functioning: Delayed Development of Theory of Mind Across All Complexity Levels

PubMed Central

Baglio, Gisella; Blasi, Valeria; Sangiuliano Intra, Francesca; Castelli, Ilaria; Massaro, Davide; Baglio, Francesca; Valle, Annalisa; Zanette, Michela; Marchetti, Antonella

2016-01-01

Borderline intellectual functioning (BIF) is characterized by heterogeneous cognitive difficulties, with an intelligence quotient (IQ) between 70 and 85 points, and a failure to meet the developmental and sociocultural standards for personal independence and social responsibility required in daily life. The fact that this population still remain a marginal clinical category, with no ad hoc diagnostic and therapeutic approaches, has stimulated the present research. Our goal was to study children with BIF investigating the development of Theory of Mind (ToM) as a pillar of social competence. Children with BIF (N = 28, 16 male/12 female, and mean age 9.46 ± 1.26 years) and children with typical development (TD; N = 31, 17 male/14 female; mean age 8.94 years ± 0.99) underwent a neurocognitive assessment and a ToM assessment. Children with BIF showed a significant lower performance across all the levels of ToM development investigated compared to the control group, and a correlation between executive functions and the advanced levels of ToM reasoning. These results constitute a first step in the direction of defining the clinical profile of children with BIF concerning ToM development, opening the way to future interventions in order to support the developmental evolution of this population in an adaptive direction. PMID:27818637

The Perception of Substance Use Disorder among Clinicians, Caregivers and Family Members of Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

VanDerNagel, Joanne E. L.; van Duijvenbode, Neomi; Ruedrich, Stephen; Ayu, Astri P.; Schellekens, Arnt F. A.

2018-01-01

Introduction: Substance use disorders (SUD) are common among individuals with intellectual and developmental disorders (IDD). The quality of care individuals with these conditions receive can be affected by perceptions and attributions of SUD among clinicians, professional caregivers, and family members. The aim of this study was to explore such…

Implementation of Medicaid Managed Long-Term Services and Supports for Adults with Intellectual And/Or Developmental Disabilities in Kansas

ERIC Educational Resources Information Center

Williamson, Heather J.; Perkins, Elizabeth A.; Levin, Bruce L.; Baldwin, Julie A.; Lulinski, Amie; Armstrong, Mary I.; Massey, Oliver T.

2017-01-01

Many adults with intellectual and/or developmental disabilities (IDD) can access health and long-term services and supports (LTSS) through Medicaid. States are reforming their Medicaid LTSS programs from a fee-for-service model to a Medicaid managed LTSS (MLTSS) approach, anticipating improved quality of care and reduced costs, although there is…

State Policies and Practices in Behavior Supports for Persons with Intellectual and Developmental Disabilities in the United States: A National Survey

ERIC Educational Resources Information Center

Rotholz, David A.; Moseley, Charles R.; Carlson, Kinsey B.

2013-01-01

Providing effective behavioral supports to decrease challenging behavior and replace it with appropriate alternative skills is essential to meeting the needs of many individuals with intellectual and developmental disabilities (IDD). It is also necessary for fulfilling the requirements of Medicaid-funded individual support plans and is important…

The Feasibility of Group Video Conferencing for Promotion of Physical Activity in Adolescents with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Ptomey, Lauren T.; Willis, Erik A.; Greene, J. Leon; Danon, Jessica C.; Chumley, Tara K.; Washburn, Richard A.; Donnelly, Joseph E.

2017-01-01

Physical activity (PA) rates of adolescents with intellectual and developmental disabilities (IDD) are low and effective strategies for increasing PA are limited. The purpose of this study was to assess the feasibility of a group-based PA intervention that was delivered remotely to adolescents with IDD. Participants attended 30-min group PA…

The Voices of Parents: Post-High School Expectations, Priorities, and Concerns for Children With Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Blustein, Carly L.; Carter, Erik W.; McMillan, Elise D.

2016-01-01

The expectations of parents can shape the post-school pathways of young people with intellectual and developmental disabilities (IDD). Yet little is known about how parents view the employment prospects and priorities of their sons and daughters after high school. We examined expectations, preferences, and concerns of 1,065 parents of children and…

A Taxonomy for Postsecondary Education Programs for Students with Intellectual and Developmental Disabilities. Policy Research Brief. Volume 23, Number 1

ERIC Educational Resources Information Center

McEathron, Mary; Beuhring, Trisha; Maynard, Amelia; Mavis, Ann

2013-01-01

This "Policy Research Brief" presents the current state of the Taxonomy for Postsecondary Education Programs for Students with Intellectual and Developmental Disabilities, along with examples of how it can be used. The purpose of the taxonomy is to provide a basis for comparing the features of the growing number of postsecondary…

Applying the Developmental Perspective in the Psychiatric Assessment and Diagnosis of Persons with Intellectual Disability: Part I - Assessment

ERIC Educational Resources Information Center

Dosen, A.

2005-01-01

In generic psychiatry there has been increasing interest among scientists for the developmental perspective. However, professionals active in the mental health care of people with intellectual disability (ID) have not shown the same degree of interest. The author of this article, who has had a liberal amount of rewarding experiences with the…

Improving Health Behaviours of Latina Mothers of Youths and Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Magaña, S.; Li, H.; Miranda, E.; Paradiso de Sayu, R.

2015-01-01

Background: Latina mothers who care for children with intellectual and developmental disabilities (IDD) over the lifespan struggle to take care of their own health needs in the context of their caregiving experience. Services are typically aimed at the persons with IDD and not their family caregivers. Yet, attending to family caregiver needs may…

The Adaptation of a School-Based Health Promotion Programme for Youth with Intellectual and Developmental Disabilities: A Community-Engaged Research Process

ERIC Educational Resources Information Center

Hubbard, Kristie L.; Bandini, Linda G.; Folta, Sara C.; Wansink, Brian; Must, Aviva

2014-01-01

Background: Evidenced-based health promotion programmes for youth with intellectual and developmental disabilities (I/DD) are notably absent. Barriers include a lack of understanding of how to adapt existing evidence-based programmes to their needs, maximize inclusion and support mutual goals of health and autonomy. Methods: We undertook a…

Critical Analysis of a Population Mental Health Strategy: Effects on Stigma for People with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Hamdani, Yani; Ary, Ayelet; Lunsky, Yona

2017-01-01

Introduction: Stigma is widely identified as an issue affecting the health and well-being of people with intellectual and developmental disabilities (IDD), and those with mental illnesses. To address this issue, a population mental health strategy, which includes a focus on reducing stigma and discrimination, was developed by the government of…

Colonoscopy and Colorectal Cancer Screening in Adults with Intellectual and Developmental Disabilities: Review of a Series of Cases and Recommendations for Examination

ERIC Educational Resources Information Center

Fischer, Leonard S.; Becker, Andrew; Paraguya, Maria; Chukwu, Cecilia

2012-01-01

Adults with intellectual and developmental disabilities (IDD) frequently have comorbidities that might interfere with colonoscopy preparation and examination. In this article, the authors review their experience with colonoscopies performed from 2002 through 2010 on adults with IDD at a state institution to evaluate quality and safety of…

The Role of Community Rehabilitation Providers in Employment for Persons with Intellectual and Developmental Disabilities: Results of the 2010-2011 National Survey

ERIC Educational Resources Information Center

Domin, Daria; Butterworth, John

2013-01-01

Based on the 2010-2011 National Survey of Community Rehabilitation Providers, findings are presented on people with all disabilities and people with intellectual and developmental disabilities (IDD) who are served in employment and nonwork settings by community rehabilitation providers. Findings suggest little change over the past eight years in…

Autonomy and Accountability: Teacher Perspectives on Evidence-Based Practice and Decision-Making for Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Greenway, Rosanne; McCollow, Meaghan; Hudson, Roxanne F.; Peck, Charles; Davis, Carol A.

2013-01-01

The purpose of this study was to examine teacher perspectives about evidence-based practices (EBP) and decision-making for students with intellectual and developmental disabilities. Given the current EBP movement, our study sought to understand practitioner definitions and perspectives on EBP and decision-making. Interview data from nine special…

Teaching Note--Description and Preliminary Evaluation of a Modified College Experience for Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Remis, Kimberly; Moore, Crystal Dea; Pichardo, Julia; Rosario, Zuliany; Moore, Jeffrey Palmer

2017-01-01

This article describes the implementation and preliminary evaluation of a modified college experience for adults with intellectual and developmental disabilities (IDD) at a small liberal arts college. To increase social work students' interest in working with this population and access of people with IDD to higher education, Bridges to Skidmore…

Cyber Victimization and Depression among Adolescents with Intellectual Disabilities and Developmental Disorders: The Moderation of Perceived Social Support

ERIC Educational Resources Information Center

Wright, Michelle F.

2017-01-01

The aim of this study was to examine the mitigating effect of perceived social support from parents, teachers, and friends on the association between cyber victimization and depression, accessed one year later. Adolescents (n = 131; 13-15 years old; 73% male) with intellectual and developmental disabilities completed questionnaires on their…

A Systematic Review of Paraprofessional-Delivered Educational Practices to Improve Outcomes for Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Brock, Matthew E.; Carter, Erik W.

2013-01-01

The involvement of paraprofessionals in the education of students with intellectual and developmental disabilities (IDD) has been both complex and controversial. Many scholars and advocates have raised concerns about the roles these staff members play in schools and the degree to which there is empirical support for their direct work with…

Use of a UDL Literacy Environment by Middle School Students with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Coyne, Peggy; Evans, Miriam; Karger, Joanne

2017-01-01

Universal Design for Learning (UDL) has been shown to have benefits for students with disabilities. However, little is known about its potential to support literacy for students with intellectual and developmental disabilities (IDD). This qualitative study explored (a) to what extent students with IDD are able to use Udio, an online UDL literacy…

Randomized Controlled Trial to Evaluate an Abuse Prevention Curriculum for Women and Men with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Hickson, Linda; Khemka, Ishita; Golden, Harriet; Chatzistyli, Aikaterini

2015-01-01

This study was designed (a) to assess the impact of the "ESCAPE-DD" curriculum on the decision-making skills of adults with intellectual and developmental disabilities (IDD) in hypothetical situations of abuse, (b) to examine the role of problem awareness, and (c) to identify factors associated with posttest decision-making performance.…

Effect of Supported Employment on Vocational Rehabilitation Outcomes of Transition-Age Youth with Intellectual and Developmental Disabilities: A Case Control Study

ERIC Educational Resources Information Center

Wehman, Paul; Chan, Fong; Ditchman, Nicole; Kang, Hyun-Ju

2014-01-01

The purpose of this study was to examine the effect of supported employment intervention on the employment outcomes of transition-age youth with intellectual and developmental disabilities served by the public vocational rehabilitation system using a case-control study design. Data for this study were extracted from the Rehabilitation Services…

"There Is No Black or White": Scientific Community Views on Ethics in Intellectual and Developmental Disability Research

ERIC Educational Resources Information Center

McDonald, Katherine; Patka, Mazna

2012-01-01

From an ethical standpoint, there are questions about the best ways to include adults with intellectual and developmental disabilities in research. Scholarship reflects divergent responses to these enduring questions and values that can be at odds with one another. To deepen our understanding of beliefs in the scientific community about how to…

Intellectual developmental disorders in Mexico: a call for programmes promoting independence and inclusion

PubMed Central

Katz, Gregorio; Corona, Edgar

2016-01-01

This paper describes an innovative institution, Capacitación y Desarrollo Integral AC (CADI – Comprehensive Training and Development), created in Mexico to develop evidence-based interventions grounded in the principles of inclusion, independence, social and health equity that promote the well-being of persons with intellectual developmental disorder older than 14 years. PMID:29093910

Expectations from different perspectives on future work outcome of young adults with intellectual and developmental disabilities.

PubMed

Holwerda, Anja; Brouwer, Sandra; de Boer, Michiel R; Groothoff, Johan W; van der Klink, Jac J L

2015-03-01

Expectations strongly influence future employment outcomes and social networks seem to mediate employment success of young adults with intellectual and developmental disabilities. The aim of this study is to examine the expectations of young adults with intellectual and developmental disabilities from special needs education, their parents and their school teachers regarding future work and the extent to which these expectations predict work outcome. Data on 341 young adults with intellectual or developmental disabilities, coming from special needs education, aged 17-20 years, and with an ability to work according to the Social Security Institute were examined. The school teacher's expectation was the only perspective that significantly predicted entering competitive employment, with a complementary effect of the expectation of parents and a small additional effect of the expectation of the young adult. Expectations of school teachers and parents are valuable in predicting work outcome. Therefore, it is important for professionals working with the young adult in the transition from school to work to incorporate the knowledge of school teachers and parents regarding the abilities of the young adult to enter competitive employment as a valuable source of information.

Telepsychiatry and Virtual Reality an the Teatment of Patients with Intellectual and Developmental Disabilities.

PubMed

Krysta, Krzysztof; Krzystanek, Marek; Cubała, Wiesław J; Wiglusz, Mariusz S; Jakuszkowiak-Wojten, Katarzyna; Gałuszko-Węgielnik, Maria; Czarnowska-Cubała, Monika; Szarmach, Joanna; Włodarczyk, Adam; Janas-Kozik, Małgorzata

2017-09-01

Treatment and rehabilitation of people with intellectual and developmental disabilities is a multidisciplinary challenge, which require implementing new attitudes. The use of modern technology solutions like telepsychiatry or virtual reality may be a valuable addition to the traditional methods. The objective of this review was to explore the usability of new technological solutions in this special population of patients. The search in the PubMed was conducted using the following terms: (intellectual disability (Title/Abstract) OR developmental disability OR learning disorder (Title/Abstract)) AND virtual reality (Title/Abstract) OR telepsychiatry OR telemedicine OR e-mental health AND English (lang) AND (1995/01/01(PDAT): 2017/07/31(PDAT)). Telepsychiatry may be a useful tool in situations, when the direct access to professional assistance is limited, in solving particular problems like e.g. managing challenging behavior, also to support patients' parents and for diagnostic and educational purposes. Virtual reality can be a safe and effective method of improving different skills, developing physical fitness, and enriching the ways of spending the leisure time. Using modern technology is a relatively new and promising field in which new ideas may develop to support the already existing services for patients with intellectual and developmental disabilities.

42 CFR 483.130 - PASARR determination criteria.

Code of Federal Regulations, 2014 CFR

2014-10-01

... or community intellectual disability or developmental disability providers. (d) Examples of categories. Examples of categories for which the State mental health or intellectual disability authority may... intellectual disability authorities may be made applicable to individuals by the NF or other evaluator...

14 CFR § 1274.208 - Intellectual property.

Code of Federal Regulations, 2014 CFR

2014-01-01

... business organization for experimental, developmental, research, design or engineering work in support of... AGREEMENTS WITH COMMERCIAL FIRMS Pre-Award Requirements § 1274.208 Intellectual property. (a) Intellectual... similar arrangement) with a domestic nonprofit organization or a small business firm for experimental...

Comparing Teacher-Directed and Computer-Assisted Constant Time Delay for Teaching Functional Sight Words to Students with Moderate Intellectual Disability

ERIC Educational Resources Information Center

Coleman, Mari Beth; Hurley, Kevin J.; Cihak, David F.

2012-01-01

The purpose of this study was to compare the effectiveness and efficiency of teacher-directed and computer-assisted constant time delay strategies for teaching three students with moderate intellectual disability to read functional sight words. Target words were those found in recipes and were taught via teacher-delivered constant time delay or…

Sibling Caregivers of People With Intellectual and Developmental Disabilities: Sociodemographic Characteristics and Material Hardship Prevalence.

PubMed

Sonik, Rajan A; Parish, Susan L; Rosenthal, Eliana S

2016-10-01

In growing numbers, people with intellectual and developmental disabilities are outliving their parents, or at least their parents' ability to care for them. Consequently, adult siblings without intellectual and developmental disabilities are increasingly taking on primary caregiving responsibilities. However, adult siblings have received little study generally, and sibling caregivers have received even less. We used nationally representative data from the Survey of Income and Program Participation (SIPP) to describe the social characteristics and material hardship levels of sibling caregivers, in comparison to the general working age adult population. This study finds moderate material hardship to be pervasive among sibling caregivers, though extreme levels of hardship are possibly being abated somewhat through public benefit programs. Implications for greater service needs are discussed.

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.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

PubMed

Harms, Frederike Leonie; Girisha, Katta M; Hardigan, Andrew A; Kortüm, Fanny; Shukla, Anju; Alawi, Malik; Dalal, Ashwin; Brady, Lauren; Tarnopolsky, Mark; Bird, Lynne M; Ceulemans, Sophia; Bebin, Martina; Bowling, Kevin M; Hiatt, Susan M; Lose, Edward J; Primiano, Michelle; Chung, Wendy K; Juusola, Jane; Akdemir, Zeynep C; Bainbridge, Matthew; Charng, Wu-Lin; Drummond-Borg, Margaret; Eldomery, Mohammad K; El-Hattab, Ayman W; Saleh, Mohammed A M; Bézieau, Stéphane; Cogné, Benjamin; Isidor, Bertrand; Küry, Sébastien; Lupski, James R; Myers, Richard M; Cooper, Gregory M; Kutsche, Kerstin

2017-01-05

From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mother, who is mosaic. EBF3 belongs to the early B cell factor family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation. Structural assessment predicted that the five amino acid substitutions have damaging effects on DNA binding of EBF3. Transient expression of EBF3 mutant proteins in HEK293T cells revealed mislocalization of all but one mutant in the cytoplasm, as well as nuclear localization. By transactivation assays, all EBF3 mutants showed significantly reduced or no ability to activate transcription of the reporter gene CDKN1A, and in situ subcellular fractionation experiments demonstrated that EBF3 mutant proteins were less tightly associated with chromatin. Finally, in RNA-seq and ChIP-seq experiments, EBF3 acted as a transcriptional regulator, and mutant EBF3 had reduced genome-wide DNA binding and gene-regulatory activity. Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of individuals with unexplained neurodevelopmental disorders. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Differentiation of Speech Delay and Global Developmental Delay in Children Using DTI Tractography-Based Connectome.

PubMed

Jeong, J-W; Sundaram, S; Behen, M E; Chugani, H T

2016-06-01

Pure speech delay is a common developmental disorder which, according to some estimates, affects 5%-8% of the population. Speech delay may not only be an isolated condition but also can be part of a broader condition such as global developmental delay. The present study investigated whether diffusion tensor imaging tractography-based connectome can differentiate global developmental delay from speech delay in young children. Twelve children with pure speech delay (39.1 ± 20.9 months of age, 9 boys), 14 children with global developmental delay (39.3 ± 18.2 months of age, 12 boys), and 10 children with typical development (38.5 ± 20.5 months of age, 7 boys) underwent 3T DTI. For each subject, whole-brain connectome analysis was performed by using 116 cortical ROIs. The following network metrics were measured at individual regions: strength (number of the shortest paths), efficiency (measures of global and local integration), cluster coefficient (a measure of local aggregation), and betweeness (a measure of centrality). Compared with typical development, global and local efficiency were significantly reduced in both global developmental delay and speech delay (P < .0001). The nodal strength of the cognitive network is reduced in global developmental delay, whereas the nodal strength of the language network is reduced in speech delay. This finding resulted in a high accuracy of >83% ± 4% to discriminate global developmental delay from speech delay. The network abnormalities identified in the present study may underlie the neurocognitive and behavioral consequences commonly identified in children with global developmental delay and speech delay. Further validation studies in larger samples are required. © 2016 by American Journal of Neuroradiology.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

PubMed

Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Longo, Nicola; Korenke, G Christoph; Mercimek-Mahmutoglu, Saadet; Marquart, Iris; Barshop, Bruce; Grolik, Christiane; Schlune, Andrea; Angle, Brad; Araújo, Helena Caldeira; Coskun, Turgay; Diogo, Luisa; Geraghty, Michael; Haliloglu, Goknur; Konstantopoulou, Vassiliki; Leuzzi, Vincenzo; Levtova, Alina; Mackenzie, Jennifer; Maranda, Bruno; Mhanni, Aizeddin A; Mitchell, Grant; Morris, Andrew; Newlove, Theresa; Renaud, Deborah; Scaglia, Fernando; Valayannopoulos, Vassili; van Spronsen, Francjan J; Verbruggen, Krijn T; Yuskiv, Nataliya; Nyhan, William; Schulze, Andreas

2014-01-01

We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate and protein/arginine restricted diets. The median age at treatment initiation was 25.5 and 39 months in patients with mild and moderate DD/ID, respectively, and 11 years in patients with severe DD/ID. Increase of cerebral creatine and decrease of plasma/CSF guanidinoacetate levels were achieved by supplementation with creatine-monohydrate combined with high dosages of l-ornithine and/or an arginine-restricted diet (250 mg/kg/d l-arginine). Therapy was associated with improvement or stabilization of symptoms in all of the symptomatic cases. The 4 patients treated younger than 9 months had normal or almost normal developmental outcomes. One with inconsistent compliance had a borderline IQ at age 8.6 years. An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

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.

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.

PubMed

Whittaker, Danielle E; Kasah, Sahrunizam; Donovan, Alex P A; Ellegood, Jacob; Riegman, Kimberley L H; Volk, Holger A; McGonnell, Imelda; Lerch, Jason P; Basson, M Albert

2017-12-01

Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio-temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay. © 2017 The Authors. American Journal of Medical Genetics Part C Published by Wiley Periodicals, Inc.

Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.

PubMed

Costales, Jesse L; Kolevzon, Alexander

2015-07-01

Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe speech delays, poor motor tone and function, and autism spectrum disorder (ASD). Although the overall prevalence of PMS is unknown, there have been at least 1200 cases reported worldwide, according to the Phelan-McDermid Syndrome Foundation. PMS is now considered to be a relatively common cause of ASD and intellectual disability, accounting for between 0.5% and 2.0% of cases. The cause of PMS has been isolated to loss of function of one copy of SHANK3, which codes for a master scaffolding protein found in the postsynaptic density of excitatory synapses. Reduced expression of SH3 and multiple ankyrin repeat domains 3 (SHANK3) leads to reduced numbers of dendrites, and impaired synaptic transmission and plasticity. Recent mouse and human neuronal models of PMS have led to important opportunities to develop novel therapeutics, and at least 2 clinical trials are underway, one in the USA, and one in the Netherlands. The SHANK3 pathway may also be relevant to other forms of ASD, and many of the single-gene causes of ASD identified to date appear to converge on several common molecular pathways that underlie synaptic neurotransmission. As a result, treatments developed for PMS may also affect other forms of ASD.

Improving Physical Fitness of Individuals with Intellectual and Developmental Disability through a Virtual Reality Intervention Program

ERIC Educational Resources Information Center

Lotan, Meir; Yalon-Chamovitz, Shira; Weiss, Patrice L.

2009-01-01

Individuals with intellectual and developmental disabilities (IDD) are in need of effective physical fitness training programs. The aim was to test the effectiveness of a Virtual Reality (VR)-based exercise program in improving the physical fitness of adults with IDD. A research group (N = 30; mean age = 52.3 plus or minus 5.8 years; moderate IDD…

Personalization, Self-Advocacy and Inclusion: An Evaluation of Parent-Initiated Supported Living Schemes for People with Intellectual and Developmental Disabilities in the Netherlands

ERIC Educational Resources Information Center

Reindl, Marie-Sol; Waltz, Mitzi; Schippers, Alice

2016-01-01

This study focused on parent-initiated supported living schemes in the South of the Netherlands and the ability of these living schemes to enhance participation, choice, autonomy and self-advocacy for people with intellectual or developmental disabilities through personalized planning, support and care. Based on in-depth interviews with tenants,…

Understanding the Support Needs of People with Intellectual and Related Developmental Disabilities through Cluster Analysis and Factor Analysis of Statewide Data

ERIC Educational Resources Information Center

Viriyangkura, Yuwadee

2014-01-01

Through a secondary analysis of statewide data from Colorado, people with intellectual and related developmental disabilities (ID/DD) were classified into five clusters based on their support needs characteristics using cluster analysis techniques. Prior latent factor models of support needs in the field of ID/DD were examined to investigate the…

Variables within a Household That Influence Quality-of-Life Outcomes for Individuals with Intellectual and Developmental Disabilities Living in the Community: Discovering the Gaps

ERIC Educational Resources Information Center

Francis, Grace Lucille; Blue-Banning, Martha; Turnbull, Rud

2014-01-01

Individuals with intellectual and developmental disabilities (IDD) and their families face many important decisions as the individuals with IDD enter adulthood, including where to live. Although there are numerous housing options for individuals with IDD outside of institutions, there is a paucity of information available to inform them about how…

Low Bone Mineral Density Risk Factors and Testing Patterns in Institutionalized Adults with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Hess, Mailee; Campagna, Elizabeth J.; Jensen, Kristin M.

2018-01-01

Background: Adults with intellectual or developmental disability (ID/DD) have multiple risks for low bone mineral density (BMD) without formal guidelines to guide testing. We sought to identify risk factors and patterns of BMD testing among institutionalized adults with ID/DD. Methods: We evaluated risk factors for low BMD (Z-/T-score < -1) and…

Day Habilitation Services for People with Intellectual and Developmental Disabilities in Medicaid Home and Community-Based Services Waivers

ERIC Educational Resources Information Center

Friedman, Carli

2016-01-01

Medicaid Home and Community-Based Services (HCBS) 1915(c) waivers are one of the largest providers of long-term services and supports for people with intellectual and developmental disabilities (IDD). HCBS waivers also play a prominent role in providing day habilitation services for people with IDD. The purpose of this study was to examine how…

Adolescent Siblings of Individuals with and without Intellectual and Developmental Disabilities: Self-Reported Empathy and Feelings about Their Brothers and Sisters

ERIC Educational Resources Information Center

Shivers, Carolyn M.; Dykens, Elisabeth M.

2017-01-01

Siblings of brothers or sisters with intellectual and developmental disabilities (IDD) are important but understudied family members. As many previous studies have relied on parent report of sibling outcomes, the use of sibling self-report is an important addition to the research. This study assessed the feelings of adolescent siblings toward…

Perspectives of US Direct Care Workers on the Grief Process of Persons with Intellectual and Developmental Disabilities: Implications for Practice

ERIC Educational Resources Information Center

Gray, Jennifer A.; Abendroth, Maryann

2016-01-01

Background: The study explored the grief process of persons with intellectual and developmental disabilities (PWIDDs) as perceived by direct care workers (DCWs) and how such workers can guide and support PWIDDs experiencing grief. Materials and Methods: A thematic analysis approach was used to examine data from nine focus groups with 60 DCWs from…

Why Reinvent the Wheel? A Behaviour Analyst's Reflections on Pedagogy for Inclusion for Students with Intellectual and Developmental Disability

ERIC Educational Resources Information Center

Dillenburger, Karola

2012-01-01

The number of children identified as having intellectual or developmental disability is rising worldwide and their education has been found wanting. It has been said that "they simply need better teaching." At the same time, there is an increasing evidence base that pedagogy that is based on the discipline of behaviour analysis offers…

A Review of Research on Direct-Care Staff Data Collection Regarding the Severity and Function of Challenging Behavior in Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Madsen, Emily K.; Peck, Janelle A.; Valdovinos, Maria G.

2016-01-01

In working with individuals with intellectual and developmental disabilities (IDDs), it is direct care staff who are often required to collect data on individuals' behavior which is used as the basis for implementation of empirically based approaches for intervention and treatment. Due to limited resources, indirect and descriptive measures of…

Measurement Properties of the Non-Communicating Adult Pain Checklist (NCAPC): A Pain Scale for Adults with Intellectual and Developmental Disabilities, Scored in a Clinical Setting

ERIC Educational Resources Information Center

Lotan, M.; Moe-Nilssen, R.; Ljunggren, A. E.; Strand, L. I.

2010-01-01

The 18 items' Non-Communicating Adult Pain Checklist (NCAPC) has been developed from the 27 items Non-Communicating Children Pain Checklist to better capture pain behavior of adults with Intellectual and Developmental Disabilities (IDD). As part of the NCAPC's measurement properties, internal consistency, reliability and sensitivity to pain have…

Risk Factors for Self-Injury, Aggression, and Stereotyped Behavior among Young Children at Risk for Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Schroeder, Stephen R.; Marquis, Janet G.; Reese, R. Matthew; Richman, David M.; Mayo-Ortega, Liliana; Oyama-Ganiko, Rosa; LeBlanc, Judith; Brady, Nancy; Butler, Merlin G.; Johnson, Tiffany; Lawrence, Linda

2014-01-01

Before the 1990s, research on the early identification and prevention of severe behavior disorders (SBDs), such as aggression, self-injury, and stereotyped behavior, among young children with intellectual and developmental disabilities (IDD), was mostly done with children 3 years or older. More recent work suggests that signs of SBDs may occur as…

Job Burnout amongst the Institutional Caregivers Working with Individuals with Intellectual and Developmental Disabilities: Utilization of the Chinese Version of the Copenhagen Burnout Inventory Survey

ERIC Educational Resources Information Center

Lin, Lan-Ping; Lin, Jin-Ding

2013-01-01

Burnout has been considered important to understand the well-being of people who work with individuals with intellectual disabilities (ID) and developmental disabilities (DD). To identify personal and workplace characteristics associated with burnout, this study aimed to utilize the Chinese version of the Copenhagen Burnout Inventory to provide a…

Reduce, Manage or Cope: A Review of Strategies for Training School Staff to Address Challenging Behaviours Displayed by Students with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

Stoesz, Brenda M.; Shooshtari, Shahin; Montgomery, Janine; Martin, Toby; Heinrichs, Dustin J.; Douglas, Joyce

2016-01-01

Members of a knowledge translation and exchange (KTE) research team assessed the training needs of the teaching staff at a school for individuals with intellectual/developmental disabilities (IDD). In response to this need, KTE researchers retrieved peer-reviewed articles for training staff working with individuals with IDD who exhibit challenging…

Virtual Reality as Means to Improve Physical Fitness of Individuals at a Severe Level of Intellectual and Developmental Disability

ERIC Educational Resources Information Center

Lotan, Meir; Yalon-Chamovitz, Shira; Weiss, Patrice L.

2010-01-01

Individuals with intellectual and developmental disabilities (IDD) are in need of effective and motivating physical fitness training programs. The aim was to test the effectiveness of a virtual reality (VR)-based exercise program in improving the physical fitness of adults with severe IDD when implemented by on-site caregivers. A research group (N…

Issues in the Medication Management Process in People Who Have Intellectual and Developmental Disabilities: A Qualitative Study of the Caregivers' Perspective

ERIC Educational Resources Information Center

Erickson, Steven R.; Salgado, Teresa M.; Tian, Xi

2016-01-01

People who have intellectual and developmental disabilities (IDD) often rely on caregivers to assist in the medication management process. The aim of this study was to learn from caregivers, who are either family or support staff, what major issues arise throughout the process of managing medication and how these might be addressed. Problems…

Development and Evaluation of a Staff Training Program on Palliative Care for Persons with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Hahn, Joan E.; Cadogan, Mary P.

2011-01-01

Persons with intellectual and developmental disabilities (I/DD) face barriers and disparities at end of life. Among these barriers are limited educational opportunities and a paucity of targeted training materials on palliative care for staff who provide their day-to-day care. This paper reports on a three-phase project undertaken to develop,…

Psychometric Properties of Spanish Adaptation of the PDD-MRS Scale in Adults with Intellectual Developmental Disorders: The EVTEA-DI Scale

ERIC Educational Resources Information Center

Cortés, Maria José; Orejuela, Carmen; Castellví, Gemma; Folch, Annabel; Rovira, Lluís; Salvador-Carulla, Luis; Irazábal, Marcia; Muñoz, Silvia; Haro, Josep Maria; Vilella, Elisabet; Martínez-Leal, Rafael

2018-01-01

Strategies for the early detection of autism spectrum disorders (ASD) in people with intellectual developmental disorder (IDD) are urgently needed, but few specific tools have been developed. The present study examines the psychometric properties of the EVTEA-DI, a Spanish adaptation of the PDD-MRS, in a large randomized sample of 979 adults with…

Addressing sexual and reproductive health in adolescents and young adults with intellectual and developmental disabilities.

PubMed

Walters, Frinny Polanco; Gray, Susan Hayden

2018-05-24

This review provides support for promoting the sexual health of adolescents and young adults with developmental disabilities, and particularly those with intellectual disabilities. It offers guidance for pediatricians on incorporating counseling on sexuality and reproductive healthcare, socially appropriate behavior, and sexual abuse prevention for adolescents and young adults with developmental disabilities into healthcare visits. Additionally, it provides resources for developmentally appropriate sexuality education in the home and community to allow access to the comprehensive sexual and reproductive healthcare patients deserve. Adolescents and young adults with developmental disabilities often do not receive developmentally appropriate sexual health education, and this is associated with poor sexual health outcomes and increased rates of sexual abuse in this population. Pediatricians should discuss sexual health with all patients, including adolescents and young adults with developmental disabilities. They are well suited to provide sexual health education and inform families about appropriate sexual health resources.

Seizure disorders and developmental disorders: impact on life of affected families-a structured interview.

PubMed

Spindler, Ulrike Petra; Hotopp, Lena Charlott; Bach, Vivien Angela; Hornemann, Frauke; Syrbe, Steffen; Andreas, Anna; Merkenschlager, Andreas; Kiess, Wieland; Bernhard, Matthias Karl; Bertsche, Thilo; Neininger, Martina Patrizia; Bertsche, Astrid

2017-08-01

Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed. Parents of children with both seizure disorder and intellectual disability stated the highest constraints in daily life, regarding friends, hobbies, emotional pressure, occupation, partnership, habitation, and financial burden. Due to diagnosis of seizure or developmental disorder, 155/307 (51%) parents reduced their working hours/stopped working, 62/307 (20%) changed their habitation, and 46/307 (15%) broke up. As judged by parents, 148/317 (47%) children are being discriminated against, even own family/friends and educators are held responsible. Parents perceive changes in their daily life and discrimination of their children due to their children's seizure and developmental disorders. An intellectual disability combined with seizure disorder caused the highest constraint. What is Known: • Seizure and/or developmental disorders of children may adversely influence quality of life for affected parents. • Caring for a child with special health care needs can take complete attention and own parental needs may therefore be difficult to meet. What is New: • Two out of three parents stated changes of their daily life such as quitting work, change of habitation, or breakup of partnership due to their child's diagnosis. • As judged by the parents, one in two children with developmental disorder of any kind is being discriminated against, even teachers and own family are held responsible.

Relationships between visual-motor and cognitive abilities in intellectual disabilities.

PubMed

Di Blasi, Francesco D; Elia, Flaviana; Buono, Serafino; Ramakers, Ger J A; Di Nuovo, Santo F

2007-06-01

The neurobiological hypothesis supports the relevance of studying visual-perceptual and visual-motor skills in relation to cognitive abilities in intellectual disabilities because the defective intellectual functioning in intellectual disabilities is not restricted to higher cognitive functions but also to more basic functions. The sample was 102 children 6 to 16 years old and with different severities of intellectual disabilities. Children were administered the Wechsler Intelligence Scale for Children, the Bender Visual Motor Gestalt Test, and the Developmental Test of Visual Perception, and data were also analysed according to the presence or absence of organic anomalies, which are etiologically relevant for mental disabilities. Children with intellectual disabilities had deficits in perceptual organisation which correlated with the severity of intellectual disabilities. Higher correlations between the spatial subtests of the Developmental Test of Visual Perception and the Performance subtests of the Wechsler Intelligence Scale for Children suggested that the spatial skills and cognitive performance may have a similar basis in information processing. Need to differentiate protocols for rehabilitation and intervention for recovery of perceptual abilities from general programs of cognitive stimulations is suggested.

Implementation of inclusive education for children with intellectual and developmental disabilities in African countries: a scoping review.

PubMed

Okyere, Christiana; Aldersey, Heather Michelle; Lysaght, Rosemary; Sulaiman, Surajo Kamilu

2018-04-25

To advance understanding of practices that support inclusion of children with intellectual and developmental disabilities in inclusive education classrooms in Africa by conducting a review of the extant literature. Five academic databases were searched supplemented by a hand search of key journals and references of included studies. Two authors independently screened studies via a reference manager (Covidence) which allowed for blinding. A third author was consulted in cases of conflict. Thirty articles that provided empirical evidence of inclusive education implementation were included. Eight articles highlighted practices that support inclusion of children with intellectual and developmental disabilities. Using Bronfenbrenner's bioecological framework, findings revealed that inclusive education implementation is influenced by factors on the bio level, micro level, meso level, and macro level. Recommendations for promoting inclusive education implementation are provided. Inclusion goes beyond teachers and requires strong commitment of other stakeholders such as families and governments. To guarantee the smooth inclusion of children with special education needs and particularly with intellectual and developmental disabilities, a set of practices validated through rigorous research as supportive and unique and that can be universal to Africa is wise. Implications for rehabilitation A number of strategies were identified that can improve the classroom inclusion of children with intellectual and developmental disabilities. Development of policies that support such strategies could improve implementation. Inclusion goes beyond teachers. Rehabilitation professionals (i.e. occupational therapists) and educational professionals should partner to identify practical solutions to the challenges of creating inclusive environments for children with special education needs. Committing more resources and time towards the development and implementation of special education policies can advance the successful inclusion of children with special education needs.

Overweight and Obesity among Adults with Intellectual Disabilities Who Use Intellectual Disability/Developmental Disability Services in 20 U.S. States

ERIC Educational Resources Information Center

Stancliffe, Roger J.; Lakin, K. Charlie; Larson, Sheryl; Engler, Joshua; Bershadsky, Julie; Taub, Sarah; Fortune, Jon; Ticha, Renata

2011-01-01

The authors compare the prevalence of obesity for National Core Indicators (NCI) survey participants with intellectual disability and the general U.S. adult population. In general, adults with intellectual disability did not differ from the general population in prevalence of obesity. For obesity and overweight combined, prevalence was lower for…

Validity and Reliability of the "Behavior Problems Inventory," the "Aberrant Behavior Checklist," and the "Repetitive Behavior Scale--Revised" among Infants and Toddlers at Risk for Intellectual or Developmental Disabilities: A Multi-Method Assessment Approach

ERIC Educational Resources Information Center

Rojahn, Johannes; Schroeder, Stephen R.; Mayo-Ortega, Liliana; Oyama-Ganiko, Rosao; LeBlanc, Judith; Marquis, Janet; Berke, Elizabeth

2013-01-01

Reliable and valid assessment of aberrant behaviors is essential in empirically verifying prevention and intervention for individuals with intellectual or developmental disabilities (IDD). Few instruments exist which assess behavior problems in infants. The current longitudinal study examined the performance of three behavior-rating scales for…

Food Insecurity among Young Adults with Intellectual and Developmental Disabilities in the United States: Evidence from the National Health Interview Survey

ERIC Educational Resources Information Center

Brucker, Debra L.; Nord, Derek

2016-01-01

People with intellectual or developmental disabilities (IDD) face higher levels of poverty than others, which can lead to concerns regarding areas of well-being, such as food security. Young adults with IDD who are, in many cases, transitioning from the system of educational, health care, and income supports of their youth into the adult world may…

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

PubMed

McCarthy, John M; McCann-Crosby, Bonnie M; Rech, Megan E; Yin, Jiani; Chen, Chun-An; Ali, May A; Nguyen, HaiThuy N; Miller, Jennifer L; Schaaf, Christian P

2018-05-01

Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature. Scoliosis and growth hormone insufficiency are also prevalent in PWS.There is extensive documentation of the endocrine and metabolic phenotypes for PWS, but not for SYS. This study served to investigate the hormonal, metabolic and body composition phenotype of SYS and its potential overlap with PWS. In nine individuals with SYS (5 female/4 male; aged 5-17 years), we measured serum ghrelin, glucose, insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein 3, follicle-stimulating hormone, luteinising hormone, thyroid-stimulating hormone, free T4, uric acid and testosterone, and performed a comprehensive lipid panel. Patients also underwent X-ray and dual-energy X-ray absorptiometry analyses to assess for scoliosis and bone mineral density. Low IGF-1 levels despite normal weight/adequate nutrition were observed in six patients, suggesting growth hormone deficiency similar to PWS. Fasting ghrelin levels were elevated, as seen in individuals with PWS. X-rays revealed scoliosis >10° in three patients, and abnormal bone mineral density in six patients, indicated by Z-scores of below -2 SDs. This is the first analysis of the hormonal, metabolic and body composition phenotype of SYS. Our findings suggest that there is marked, but not complete overlap between PWS and SYS. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Health Policy and the Community Safety Net for Individuals with Intellectual Disability

ERIC Educational Resources Information Center

Pollack, Harold A.

2011-01-01

This article explores social policy developments in the arena of intellectual and developmental disabilities. It begins by summarizing the challenges facing persons with intellectual disabilities and their caregivers in 1945. Families depended on a patchwork of over-crowded and under-funded large state institutions. Children with intellectual…

Nutrition Education and Support Program for Community-Dwelling Adults with Intellectual Disabilities

ERIC Educational Resources Information Center

Humphries, Kathleen; Traci, Meg Ann; Seekins, Tom

2008-01-01

To test the efficacy, acceptability, and appropriateness of a nutrition education and support program, 4 community-based group homes for adults with intellectual or developmental disabilities participated in a pilot intervention with extended baseline period and pre--post-test design. Adults (N = 32) with intellectual or developmental…

Psychometrics and utility of Psycho-Educational Profile-Revised as a developmental quotient measure among children with the dual disability of intellectual disability and autism.

PubMed

Alwinesh, Merlin Thanka Jemi; Joseph, Rachel Beulah Jansirani; Daniel, Anna; Abel, Julie Sandra; Shankar, Satya Raj; Mammen, Priya; Russell, Sushila; Russell, Paul Swamidhas Sudhakar

2012-09-01

There is no agreement about the measure to quantify the intellectual/developmental level in children with the dual disability of intellectual disability and autism. Therefore, we studied the psychometric properties and utility of Psycho-Educational Profile-Revised (PEP-R) as a developmental test in this population. We identified 116 children with dual disability from the day care and inpatient database of a specialised Autism Clinic. Scale and domain level scores of PEP-R were collected and analyzed. We examined the internal consistency, domain-total correlation of PEP-R and concurrent validity of PEP-R against Gesell's Developmental Schedule, inter-rater and test-retest reliability and utility of PEP-R among children with dual disability in different ages, functional level and severity of autism. Besides the adequate face and content validity, PEP-R demonstrates a good internal consistency (Cronbach's α ranging from 0.91 to 0.93) and domain-total correlation (ranging from 0.75 to 0.90). The inter-rater reliability (intraclass correlation coefficient, ICC = 0.96) and test-retest reliability (ICC = 0.87) for PEP-R is good. There is moderate-to-high concurrent validity with GDS (r ranging from 0.61 to 0.82; all Ps = 0.001). The utility of PEP-R as a developmental measure was good with infants, toddlers, pre-school and primary school children. The ability of PEP-R to measure the developmental age was good, irrespective of the severity of autism but was better with high-functioning children. The PEP-R as an intellectual/developmental test has strong psychometric properties in children with dual disability. It could be used in children with different age groups and severity of autism. PEP-R should be used with caution as a developmental test in children with dual disability who are low functioning.

Behavior Problems in Toddlers with and without Developmental Delays: Comparison of Treatment Outcomes

ERIC Educational Resources Information Center

Holtz, Casey A.; Carrasco, Jennifer M.; Mattek, Ryan J.; Fox, Robert A.

2009-01-01

The purpose of this study is to examine the effectiveness of an in-home parent management program for toddlers with behavior problems and developmental delays by comparing outcomes for a group of toddlers with developmental delays (n = 27) and a group of toddlers without developmental delays (n = 27). The majority of children lived in single…

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

PubMed

Goodspeed, Kimberly; Newsom, Cassandra; Morris, Mary Ann; Powell, Craig; Evans, Patricia; Golla, Sailaja

2018-03-01

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals. The first carries a small deletion but does not exhibit the typical facial features nor the typical pattern of developmental delay. The second exhibits typical facial features, but has attained more advanced motor and verbal skills than other reported cases to date. The third displays typical features of PTHS, however inherited a large chromosomal duplication involving TCF4 from his unaffected father with somatic mosaicism. To the authors' knowledge, this is the first chromosomal duplication case reported to date.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

PubMed Central

Iqbal, Zafar; Püttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka ELM; de Brouwer, Arjan PM; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans

2016-01-01

AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far. PMID:26173967

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

PubMed

Iqbal, Zafar; Püttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka E L M; de Brouwer, Arjan P M; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans

2016-03-01

AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

PubMed

O'Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P Y Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J

2015-12-03

We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected by de novo or maternally inherited single-nucleotide changes. Two additional families harboring large duplications involving TAF1 were also found to share phenotypic overlap with the probands harboring single-nucleotide changes, but they also demonstrated a severe neurodegeneration phenotype. Functional analysis with RNA-seq for one of the families suggested that the phenotype is associated with downregulation of a set of genes notably enriched with genes regulated by E-box proteins. In addition, knockdown and mutant studies of this gene in zebrafish have shown a quantifiable, albeit small, effect on a neuronal phenotype. Our results suggest that mutations in TAF1 play a critical role in the development of this X-linked ID syndrome. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

PubMed

Alsahli, Saud; Arold, Stefan T; Alfares, Ahmed; Alhaddad, Bader; Al Balwi, Mohammed; Kamsteeg, Erik-Jan; Al-Twaijri, Waleed; Alfadhel, Majid

2018-05-07

Intellectual disability (ID) and global developmental delay are closely related; the latter is reserved for children under the age of 5 years as it is challenging to reliably assess clinical severity in this population. ID is a common condition, with up to 1%-3% of the population being affected and leading to a huge social and economic impact. ID is attributed to genetic abnormalities most of the time; however, the exact role of genetic involvement in ID is yet to be determined. Whole exome sequencing (WES) has gained popularity in the workup for ID, and multiple studies have been published examining the diagnostic yield in identification of the disease-causing variant (16%-55%), with the genetic involvement increasing as intelligence quotient decreases. WES has also accelerated novel disease gene discovery in this field. We identified a novel biallelic variant in the KIF16B gene (NM_024704.4:c.3611T > G) in two brothers that may be the cause of their phenotype. © 2018 Wiley Periodicals, Inc.

Toddler Developmental Delays After Extensive Hospitalization: Primary Care Practitioner Guidelines.

PubMed

Lehner, Dana C; Sadler, Lois S

2015-01-01

This review investigated developmental delays toddlers may encounter after a lengthy pediatric hospitalization (30 days or greater). Physical, motor, cognitive, and psychosocial development of children aged 1 to 3 years was reviewed to raise awareness of factors associated with developmental delay after extensive hospitalization. Findings from the literature suggest that neonatal and pediatric intensive care unit (NICU/PICU) graduates are most at risk for developmental delays, but even non-critical hospital stays interrupt development to some extent. Primary care practitioners (PCPs) may be able to minimize risk for delays through the use of formal developmental screening tests and parent report surveys. References and resources are described for developmental assessment to help clinicians recognize delays and to educate families about optimal toddler development interventions. Pediatric PCPs play a leading role in coordinating health and developmental services for the young child following an extensive hospital stay.

Developmental and Cognitive Characteristics of “High-Level Potentialities” (Highly Gifted) Children

PubMed Central

Vaivre-Douret, Laurence

2011-01-01

This study covers the interesting field of the development in gifted children which is often neglected in pediatrics because psychomotor development data are still rare, since “gifted” children are generally noticed towards the end of their primary schooling by IQ measurement. Developmental studies have shown the evidence from several fields that children identified as “high-level potentialities” or “intellectually gifted” develop sensory, locomotor, neuropsychological, and language skills earlier than typically expected. The hypothesis is offered that the earlier development originates from biological processes affecting the physical development of the brain and in turn even intellectual abilities are developed earlier, potentially allowing for advanced development. Further it is discussed how these developmental advances interact with the social environment and in certain circumstances may entail increased risk for developing socioemotional difficulties and learning disabilities that often go unaddressed due to the masking by the advance intellectual abilities. PMID:21977044

Defining social inclusion of people with intellectual and developmental disabilities: an ecological model of social networks and community participation.

PubMed

Simplican, Stacy Clifford; Leader, Geraldine; Kosciulek, John; Leahy, Michael

2015-03-01

Social inclusion is an important goal for people with intellectual and developmental disabilities, families, service providers, and policymakers; however, the concept of social inclusion remains unclear, largely due to multiple and conflicting definitions in research and policy. We define social inclusion as the interaction between two major life domains: interpersonal relationships and community participation. We then propose an ecological model of social inclusion that includes individual, interpersonal, organizational, community, and socio-political factors. We identify four areas of research that our ecological model of social inclusion can move forward: (1) organizational implementation of social inclusion; (2) social inclusion of people with intellectual and developmental disabilities living with their families, (3) social inclusion of people along a broader spectrum of disability, and (4) the potential role of self-advocacy organizations in promoting social inclusion. Copyright © 2014. Published by Elsevier Ltd.

Cortical Volume and Developmental Instability Are Independent Predictors of General Intellectual Ability

ERIC Educational Resources Information Center

Thoma, Robert J.; Yeo, Ronald A.; Gangestad, Steven W.; Halgren, Eric; Sanchez, Natalie M.; Lewine, Jeffrey D.

2005-01-01

Measures of developmental instability (DI) reflect developmental disruptions due to genetic and environmental perturbations during normal development. DI might be expected to influence the developmental course of brain development and hence intelligence, and several studies indicate this to be the case. The factors that mediate this relationship…

A Comparison of Motor Delays in Young Children: Autism Spectrum Disorder, Developmental Delay, and Developmental Concerns

ERIC Educational Resources Information Center

Provost, Beth; Lopez, Brian R.; Heimerl, Sandra

2007-01-01

This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns…

Delayed Maturation of Fast-Spiking Interneurons Is Rectified by Activation of the TrkB Receptor in the Mouse Model of Fragile X Syndrome

PubMed Central

Nomura, Toshihiro; Zhu, Yiwen; Remmers, Christine L.; Xu, Jian; Nicholson, Daniel A.

2017-01-01

Fragile X syndrome (FXS) is a neurodevelopmental disorder that is a leading cause of inherited intellectual disability, and the most common known cause of autism spectrum disorder. FXS is broadly characterized by sensory hypersensitivity and several developmental alterations in synaptic and circuit function have been uncovered in the sensory cortex of the mouse model of FXS (Fmr1 KO). GABA-mediated neurotransmission and fast-spiking (FS) GABAergic interneurons are central to cortical circuit development in the neonate. Here we demonstrate that there is a delay in the maturation of the intrinsic properties of FS interneurons in the sensory cortex, and a deficit in the formation of excitatory synaptic inputs on to these neurons in neonatal Fmr1 KO mice. Both these delays in neuronal and synaptic maturation were rectified by chronic administration of a TrkB receptor agonist. These results demonstrate that the maturation of the GABAergic circuit in the sensory cortex is altered during a critical developmental period due in part to a perturbation in BDNF-TrkB signaling, and could contribute to the alterations in cortical development underlying the sensory pathophysiology of FXS. SIGNIFICANCE STATEMENT Fragile X (FXS) individuals have a range of sensory related phenotypes, and there is growing evidence of alterations in neuronal circuits in the sensory cortex of the mouse model of FXS (Fmr1 KO). GABAergic interneurons are central to the correct formation of circuits during cortical critical periods. Here we demonstrate a delay in the maturation of the properties and synaptic connectivity of interneurons in Fmr1 KO mice during a critical period of cortical development. The delays both in cellular and synaptic maturation were rectified by administration of a TrkB receptor agonist, suggesting reduced BDNF-TrkB signaling as a contributing factor. These results provide evidence that the function of fast-spiking interneurons is disrupted due to a deficiency in neurotrophin signaling during early development in FXS. PMID:29038238

Characteristics of People with Intellectual Disabilities in a Secure U.S. Forensic Hospital

ERIC Educational Resources Information Center

Stinson, Jill Diane; Robbins, Sharon Bradford

2014-01-01

Prior research examining persons with intellectual disabilities who have committed criminal offenses has focused primarily on correctional populations, or those who reside in secure forensic settings in the United Kingdom and Australia. This study describes 235 persons with intellectual, developmental, and cognitive disabilities who reside in a…

Perceived Social Acceptance, Theory of Mind and Social Adjustment in Children with Intellectual Disabilities

ERIC Educational Resources Information Center

Fiasse, Catherine; Nader-Grosbois, Nathalie

2012-01-01

Perceived social acceptance, theory of mind (ToM) and social adjustment were investigated in 45 children with intellectual disabilities (ID) compared with 45 typically developing (TD) preschoolers, matched for developmental age assessed by means of the Differential Scales of Intellectual Efficiency-Revised edition (EDEI-R, Perron-Borelli, 1996).…

Follow-Up Study on Parenting with Intellectual Disability in Germany.

ERIC Educational Resources Information Center

Pixa-Kettner, Ursula

1999-01-01

Five cases of parenthood of persons with intellectual disability were reinvestigated about two years after a previous German study. Problem-centered interviews were conducted with mothers or fathers with an intellectual disability and with the caretakers. Results show developmental disability in two of six children and, in some cases,…

Attention-Deficit/Hyperactivity Disorder among Children with and without Intellectual Disability: An Examination across Time

ERIC Educational Resources Information Center

Neece, C. L.; Baker, B. L.; Blacher, J.; Crnic, K. A.

2011-01-01

Background: Children with intellectual and developmental disabilities are at heightened risk for mental disorders, and disruptive behaviour disorders appear to be the most prevalent. The current study is a longitudinal examination of attention-deficit/hyperactivity disorder (ADHD) among children with and without intellectual disability (ID) across…

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-based interventions for those with developmental delays. PMID:24119240

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

PubMed

Picker-Minh, Sylvie; Mignot, Cyril; Doummar, Diane; Hashem, Mais; Faqeih, Eissa; Josset, Patrice; Dubern, Béatrice; Alkuraya, Fowzan S; Kraemer, Nadine; Kaindl, Angela M

2016-04-29

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

PubMed

Hundallah, Khaled; Alenizi, Asma'a; AlHashem, Amal; Tabarki, Brahim

2016-07-01

Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability. In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala). This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Parenting Children With Borderline Intellectual Functioning: A Unique Risk Population

PubMed Central

Fenning, Rachel M.; Baker, Jason K.; Baker, Bruce L.; Crnic, Keith A.

2009-01-01

Parenting was examined among families of children with borderline intelligence in comparison to families of typically developing children and children with developmental delays. Parenting data were obtained at child age 5 via naturalistic home observation. Mothers of children with borderline intelligence exhibited less positive and less sensitive parenting behaviors than did other mothers and were least likely to display a style of positive engagement. Children with borderline intelligence were not observed to be more behaviorally problematic than other children; however, their mothers perceived more externalizing symptoms than did mothers of typically developing children. Findings suggest the importance of mothers’ explanatory models for child difficulties and highlight children with borderline intelligence as uniquely at risk for poor parenting. PMID:17295551

Effects of Vocabulary Instruction Using Constant Time Delay on Expository Reading of Young Adults with Intellectual Disability

ERIC Educational Resources Information Center

Hua, Youjia; Woods-Groves, Suzanne; Kaldenberg, Erica R.; Scheidecker, Bethany J.

2013-01-01

We investigated the effectiveness of using constant time delay (CTD) with young adults with intellectual disability on their vocabulary acquisition and retention, as well as expository reading comprehension. Four learners, ages 19 to 21 years, from a postsecondary education program for individuals with disabilities participated in the study.…

What Are Intellectual and Developmental Disabilities (IDDs)?

MedlinePlus

... characterized by problems with both: Intellectual functioning or intelligence, which include the ability to learn, reason, problem ... cord, and nervous system function, which can affect intelligence and learning. These conditions can also cause other ...

Choosing employment: factors that impact employment decisions for individuals with intellectual disability.

PubMed

Timmons, Jaimie Ciulla; Hall, Allison Cohen; Bose, Jennifer; Wolfe, Ashley; Winsor, Jean

2011-08-01

Little is known about the factors that shape the employment-related decisions of individuals with intellectual and/or developmental disabilities. Findings from qualitative interviews with individuals, their family members, and employment-support professionals from four community rehabilitation providers throughout Massachusetts were reported. Recognizing the value of participatory action research, we also included a co-researcher with intellectual disability who participated in all facets of the research process. Findings revealed a collection of people and factors considered influential in employment-related decision-making. The family in the formative years, school-based staff and early employment experiences, the culture of the community rehabilitation providers, the job developer, and personal preferences all influenced participants' decisions. Through understanding these persuasive elements, we offer recommendations to those in the intellectual and developmental disabilities field to optimize employment choices and outcomes.

Neonatal morbidities and developmental delay in moderately preterm-born children.

PubMed

Kerstjens, Jorien M; Bocca-Tjeertes, Inger F; de Winter, Andrea F; Reijneveld, Sijmen A; Bos, Arend F

2012-08-01

Children born moderately preterm (32-35(6/7) weeks' gestation) are at increased risk of both neonatal morbidities and developmental delays in early childhood. It is unknown whether neonatal morbidities contribute to the increased risk of developmental delay. The objective of this study was to determine the effect of neonatal morbidities after moderately preterm birth on development at preschool age. In a community-based, stratified cohort, parents of 832 moderately preterm children born in 2002 or 2003 completed the Ages and Stage Questionnaire when their child was 43 to 49 months old. Data on Apgar scores, asphyxia, tertiary NICU admission, hospital transfer, circulatory insufficiency, hypoglycemia, septicemia, mechanical ventilation, continuous positive airway pressure, apneas, caffeine treatment, and hyperbilirubinemia were obtained from medical records. We assessed associations of neonatal characteristics with developmental delay, adjusted for gender, small-for-gestational-age status, gestational age, and maternal education. Hypoglycemia and asphyxia were associated with developmental delay; odds ratios (ORs) were 2.42 (95% confidence interval [CI]: 1.23-4.77) and 3.18 (95% CI: 1.01-10.0), respectively. Tertiary NICU admission and hyperbilirubinemia had positive but statistically borderline nonsignificant associations with developmental delay: ORs were 1.74 (95% CI: 0.96-3.15) and 1.52 (95% CI: 0.94-2.46), respectively. No other neonatal morbidities were associated with developmental delay. In multivariate analyses, only hypoglycemia was associated with developmental delay (OR: 2.19; 95% CI: 1.08-4.46). In moderately preterm-born children, only hypoglycemia increased the risk of developmental delay at preschool age. A concerted effort to prevent hypoglycemia might enhance developmental outcome in this group.

Sleep duration and sleep quality in people with and without intellectual disability: A meta-analysis.

PubMed

Surtees, Andrew D R; Oliver, Chris; Jones, Chris A; Evans, David L; Richards, Caroline

2017-11-28

This study provides the first meta-analysis of the purported differences in sleep time and sleep quality between people with and without intellectual disabilities. Twenty-one papers were identified that compared sleep time and/or sleep quality in people with and without intellectual disabilities. The meta-analysis of sleep time revealed that people with an intellectual disability slept for 18 min less, on average, than people without an intellectual disability. This significant difference was limited to those studies that tested groups of people with an identified genetic syndrome or developmental disorder. The analysis of sleep quality also concluded that people with intellectual disabilities experienced poorer sleep: In 93% of comparisons between groups, sleep was found to be of poorer quality in the group of people with intellectual disabilities. There were no differences found between studies that measured sleep objectively and those that used diary or questionnaire measures. Notably, most samples were drawn from populations of people with specified genetic syndromes or developmental disorders, rather than intellectual disability of heterogeneous origin. Similarly, most studies investigated sleep in children, although there was no evidence that the differences between the groups reduced during adulthood. Most studies used highly-regarded objective measures of sleep, such as polysomnography or actigraphy, although methodological flaws were evident in the identification of samples and the measurement of intellectual disability. Copyright © 2017 Elsevier Ltd. All rights reserved.

Family quality of life of Australian families with a member with an intellectual/developmental disability.

PubMed

Rillotta, F; Kirby, N; Shearer, J; Nettelbeck, T

2012-01-01

Family quality of life (FQOL) is a recent concept in intellectual/developmental disability research. Outcomes for the family are important to the provision of services because families, rather than institutions, are increasingly considered the primary support unit. This article presents Australian findings using the international Family Quality of Life Survey: Main Caregivers of People with Intellectual or Developmental Disabilities (FQOLS-2006). Forty-two South Australian main caregivers of people with an intellectual/developmental disability were interviewed using the FQOLS-2006. The FQOL domains assessed were Health of the Family, Financial Well-being, Family Relationships, Support from Other People, Support from Disability-Related Services, Influence of Values, Careers, Leisure and Recreation, and Community Interaction. Domains were measured in terms of Importance, Opportunities, Attainment, Initiative, Stability and Satisfaction. The FQOLS-2006 asked about the family's practical and emotional Support from Other People together, whereas the current study separated the constructs of practical and emotional support. Questions pertaining to FQOL in the past were also added, in order to gain a broader picture of present FQOL. Results indicated that families considered all the FQOL domains to be important. However, Health, Family Relationships and Financial Well-being were regarded as slightly more important than Practical and Emotional Support from Others. The attainment of Family Relationships, Health, Values, and Leisure and Recreation were rated as quite a bit, but Practical Support from Other People was only rated as a little. Families were generally satisfied with all FQOL domains, but they were satisfied with their Family Relationships and they were neither satisfied or dissatisfied with their Financial Well-being. Results also indicated that there was a need to distinguish between the provision of practical and emotional support from others, because the attainment of emotional support was rated at a slightly higher level than practical support. The FQOLS-2006 provided a comprehensive measure of FQOL, which, with some additional modifications, could be used to better inform service provisions and ultimately enhance the quality of life of people with intellectual/developmental disabilities and their families. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

School dysfunction in youth with autistic spectrum disorder in Taiwan: The effect of subtype and ADHD.

PubMed

Chiang, Huey-Ling; Kao, Wei-Chih; Chou, Mei-Chun; Chou, Wen-June; Chiu, Yen-Nan; Wu, Yu-Yu; Gau, Susan Shur-Fen

2018-06-01

School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths. Their parents received a semi-structured psychiatric interview for their ASD and ADHD diagnoses and reported their school functions. Youths with ASD were further grouped into low-functioning autism (LFA, ASD with intellectual disability and developmental language delay, n = 44), high-functioning autism (HFA, ASD with no intellectual disability, n = 55) and Asperger's syndrome (AS, ASD with neither language delay nor intellectual disability, n = 61). Compared to TD, ASD had worse school functions in the domains of academic performance, attitude toward schoolwork, social interaction, and behavioral problems except for no academic differences from TD in HFA and ASD without ADHD. Subgroup analysis revealed that HFA and AS had better academic performance but showed worse attitude toward school than LFA. Comorbidity of ADHD negatively impacted all domains of school functions. Besides autistic and ADHD symptoms, oppositional symptoms, lower intelligence, older age, and female gender in youths also predicted school dysfunction. Although youths with ASD have school dysfunction in several domains, this study specifically addresses the role of intelligence and comorbid ADHD on their school dysfunction. Autism Res 2018, 11: 857-869. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Impaired school functions varied in ASD youths with different characteristics. Youths with autism spectrum disorder (ASD) encounter varying levels and domains of impaired performance at schools, such as lower academic performance, negative attitude toward school work, fewer reciprocal friendships, and more behavioral problems. Our results indicate that ASD youths without intellectual disability had better academic performance, but worse attitude toward school than those with intellectual disability. Co-occurrence with ADHD is associated with school dysfunction. In summary, intelligence and comorbid ADHD influences several domains of school functions. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

PubMed

Nguyen, K; Putoux, A; Busa, T; Cordier, M P; Sigaudy, S; Till, M; Chabrol, B; Michel-Calemard, L; Bernard, R; Julia, S; Malzac, P; Labalme, A; Missirian, C; Edery, P; Popovici, C; Philip, N; Sanlaville, D

2015-05-01

Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indication of referral, namely incidental findings. The incidental finding of copy number variants (CNVs) located in X-linked genes in girls addresses the crucial question of genetic counseling in the family. We report here five cases of CNVs involving the dystrophin gene detected by aCGH in girls referred for developmental delay, without any family history of dystrophinopathy. The rearrangements included three in-frame deletions; one maternally and two paternally inherited, and two frameshift duplications: one de novo and one from undetermined inheritance. In two cases, the deletion identified in a girl was transmitted by the asymptomatic father. In the case of the maternally inherited deletion, prenatal diagnosis of dystrophinopathy was proposed for an ongoing pregnancy, whereas the cause of developmental delay in the index case remained unknown. Through these cases, we discussed the challenges of genetic counseling in the family, regarding the predictive issues for male individuals at risk for a muscular dystrophy without precise knowledge of the clinical consequences of some CNVs in the DMD gene. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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).

Delineation of a spatial working memory profile using a non-verbal eye-tracking paradigm in young children with autism and Williams syndrome.

PubMed

Fanning, Peter A J; Hocking, Darren R; Dissanayake, Cheryl; Vivanti, Giacomo

2018-05-01

Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands. To address these issues, a novel eye-tracking paradigm was designed based on an adaptation of the classic A not B paradigm in order to examine the early foundations of spatial working memory capabilities in 26 developmentally delayed preschool children with ASD, 18 age- and IQ-matched children with WS, and 19 age-matched typically-developing (TD) children. The results revealed evidence that foundational spatial working memory performance in ASD and WS was comparable with that of TD children. Performance was associated with intellectual ability in the ASD and TD groups, but not in the WS group. Performance was not associated with adaptive behavior in any group. These findings are discussed in the context of previous research that has been largely limited to older and substantially less developmentally delayed children with these neurodevelopmental disorders.

Diagnosis of severe developmental disorders in children under three years of age.

PubMed

Markiewicz, Katarzyna; Pachalska, Maria

2007-02-01

Autism, intellectual disability, and specific language impairment (SLI) constitute three important forms of developmental disability that are often mistaken for each other, especially in very young children (under age 4). Diagnostic problems are caused by the fact that a fundamental problem in cognition, language, or behavior has secondary effects on the remaining areas, which makes it difficult to separate cause from effect. A wrong or absent diagnosis can be a major hindrance in providing properly targeted therapy for developmentally disabled children. From a population of 667 children referred to a specialized outpatient clinic for developmentally disabled children, we identified 35 children in whom the fundamental diagnosis of autism, intellectual disability, or SLI was unambiguous, and then analyzed these children's scores on 7 subtests from the Munich Functional Developmental Diagnosis, in order to identify specific features of each of the three syndromes. The most reliable differentiating factor in our research group proved to be the MFDD subtest for self-reliance. A model was constructed to assist in analyzing the complex interactions of symptoms, which frequently overlap. Cognitive and communicative limitations resulting from underlying perceptual dysfunctions can lead to inappropriate adaptive behavior in children with developmental disorders, such as autism, intellectual disability, and specific language impairment. Each of these syndromes has a specific profile in respect to measures of cognitive function, social skills, and verbal communication.

Global Developmental Delay and Its Relationship to Cognitive Skills

ERIC Educational Resources Information Center

Riou, Emilie M.; Ghosh, Shuvo; Francoeur, Emmett; Shevell, Michael I.

2009-01-01

Global developmental delay (GDD) is defined as evidence of significant delays in two or more developmental domains. Our study determined the cognitive skills of a cohort of young children with GDD. A retrospective chart review of all children diagnosed with GDD within a single developmental clinic was carried out. Scores on fine motor (Peabody…

[Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations].

PubMed

Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro

2015-01-01

To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990 s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations

PubMed Central

Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro

2015-01-01

OBJECTIVE: To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. DATA SOURCE: A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords: NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. DATA SYNTHESIS: Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. CONCLUSIONS: Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. PMID:25662016

Applying the Universal Design for Learning Framework for Individuals with Intellectual Disability: The Future Must Be Now

ERIC Educational Resources Information Center

Smith, Sean J.; Lowrey, K. Alisa

2017-01-01

The current research in Universal Design for Learning (UDL) for students with intellectual disability (ID) is briefly summarized and considered in light of the national goals presented by the American Association on Intellectual and Developmental Disabilities (AAIDD) in this article. Additionally, an action plan is provided for researchers and…

Family Quality of Life: Adult School Children with Intellectual Disabilities in Bosnia and Herzegovina

ERIC Educational Resources Information Center

Svraka, E.; Loga, S.; Brown, I.

2011-01-01

Aims: This study endeavours to provide initial data on quality of life for families with adult children who have intellectual disabilities (ID) in the Canton of Sarajevo. Methods: The principal measure used was the "Family Quality of life Survey 2006-main caregivers of people with intellectual or developmental disabilities." The sample…

Known for My Strengths: Positive Traits of Transition-Age Youth With Intellectual Disability and/or Autism

ERIC Educational Resources Information Center

Carter, Erik W.; Boehm, Thomas L.; Biggs, Elizabeth E.; Annandale, Naomi H.; Taylor, Courtney E.; Loock, Aimee K.; Liu, Rosemary Y.

2015-01-01

Can young people with intellectual and developmental disabilities be known for their strengths? This mixed-method study explored the strengths of 427 youth and young adults with intellectual disability and/or autism (ages 13-21) from the vantage point of their parents. Using the Assessment Scale for Positive Character Traits-Developmental…

Symbol Labelling Improves Advantageous Decision-Making on the Iowa Gambling Task in People with Intellectual Disabilities

ERIC Educational Resources Information Center

Dymond, Simon; Bailey, Rebecca; Willner, Paul; Parry, Rhonwen

2010-01-01

Individuals with intellectual and developmental disabilities often have difficulties foregoing short-term loss for long-term gain. The Iowa Gambling Task (IGT) has been extensively adopted as a laboratory measure of this ability. In the present study, we undertook the first investigation with people with intellectual disabilities using a…

Self- and Proxy-Rated Needs in Adults with Mild to Moderate Intellectual Disabilities: Perspective Matters

ERIC Educational Resources Information Center

Schützwohl, Matthias; Voß, Elke; Salize, Hans Joachim; Stiawa, Maja; Puschner, Bernd; Koch, Andrea

2018-01-01

Background: Adults with an intellectual disability should be supported according to their individual needs. The perception of need, however, is influenced by the values and expectations of the judging person. Method: Using the Camberwell Assessment of Need for Adults with Developmental and Intellectual Disabilities, self- and proxy-rated needs of…

Human Needs and Intellectual Disabilities: Applications for Person Centered Planning, Dual Diagnosis, and Crisis Intervention

ERIC Educational Resources Information Center

Reiss, Steven

2009-01-01

Human Needs and Intellectual Disabilities identifies the 12 human needs most relevant to the lives of people with intellectual disabilities, autism and related developmental disabilities. It includes detailed, practical suggestions for caregivers or parents interested in the happiness, quality of life, and self-determination of their loved ones or…

"Smiling and Ready to Learn:" A Qualitative Exploration of University Audit Classroom Instructors' Experience with Students with Intellectual Disabilities

ERIC Educational Resources Information Center

Burgin, Emma C.; DeDiego, Amanda C.; Gibbons, Melinda M.; Cihak, David F.

2017-01-01

Transition postsecondary education programs for students with intellectual disabilities create supported environments to help students with intellectual and developmental disabilities transition from high school to gainful employment and independent living. In effort to be inclusive, transition programs often include an option for students to…

Prevalence of mental illness, intellectual disability, and developmental disability among homeless people in Nagoya, Japan: A case series study.

PubMed

Nishio, Akihiro; Yamamoto, Mayumi; Ueki, Hirofumi; Watanabe, Takahiro; Matsuura, Kenshin; Tamura, Osamu; Uehara, Ryosuke; Shioiri, Toshiki

2015-09-01

While it has been reported that the prevalence of mental illness is higher in homeless people than in the national population, few studies have investigated the prevalence of intellectual and developmental disability among the homeless. In this study, we conducted a survey to comprehensively assess these mental problems among homeless people in Nagoya, Japan. The subjects were 18 homeless men. Mental illness was diagnosed with semi-structured interviews conducted by psychiatrists. We used the Wechsler Adult Intelligence Scale III to diagnose intellectual disability. Discrepancies between Wechsler Adult Intelligence Scale III subtest scores were used as criteria for developmental disability. Eleven of the 18 participants were diagnosed with mental illness: six with mood disorder, two with psychotic disorder, and six with alcohol problems. The mean IQ of all subjects was 83.4 ± 27.4. The 95% confidence interval (CI) was 96.2-69.1. Seven participants were found to have intellectual disability. Three men showed discrepancies of more than 10 between subtest scores, and all of them were diagnosed with a mental illness. We divided the participants into four groups: those with mental illness only; those with intellectual disability only; those with both problems; and those without diagnosis. The men with intellectual disability only were significantly younger and had been homeless since a younger age than the other groups. Participants diagnosed with a mental illness had been homeless for longer than those without mental health problems. Although the sample size was limited, this study revealed the high prevalence of mental illness and intellectual disability, 61% (95%CI, 35-83%) and 39% (95%CI, 17-64%), respectively, in homeless people in Nagoya, Japan. © 2014 The Authors. Psychiatry and Clinical Neurosciences © 2014 Japanese Society of Psychiatry and Neurology.

The Effectiveness of a Constant Time Delay Procedure on Teaching Lifetime Sport Skills to Adolescents with Severe to Profound Intellectual Disabilities.

ERIC Educational Resources Information Center

Zhang, Jiabei; And Others

1995-01-01

A constant time delay (CTD) procedure was used to teach four adolescents with severe/profound intellectual disabilities to perform bowling, throwing, and putting. Results indicated that the adolescents could be effectively taught gross motor lifetime sport skills with the CTD procedure and that verbal description plus physical assistance could be…

Using Video Prompting and Constant Time Delay to Teach an Internet Search Basic Skill to Students with Intellectual Disabilities

ERIC Educational Resources Information Center

Zisimopoulos, Dimitrios; Sigafoos, Jeff; Koutromanos, George

2011-01-01

We evaluated a video prompting and a constant time delay procedure for teaching three primary school students with moderate intellectual disabilities to access the Internet and download pictures related to participation in a classroom History project. Video clips were used as an antecedent prompt and as an error correction technique within a…

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

PubMed

Aleksiūnienė, Beata; Preiksaitiene, Egle; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas

2018-01-01

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features. © 2018 S. Karger AG, Basel.

Profile of referrals for early childhood developmental delay to ambulatory subspecialty clinics.

PubMed

Shevell, M I; Majnemer, A; Rosenbaum, P; Abrahamowicz, M

2001-09-01

The objective of this study was to determine the profile and pattern of referral to subspecialty clinics of young children with suspected developmental delay together with the factors prompting their referral. All children under 5 years of age referred to either developmental pediatrics or pediatric neurology clinics at a single tertiary hospital over an 18-month period were prospectively identified. Standardized demographic and referral information were collected at intake, final developmental delay subtype diagnosed was identified, and referring physicians were surveyed regarding factors prompting referral. A total of 224 children met study criteria. There was a marked male preponderance (166/224), especially among those with either cognitive or language delay. Two delay subtypes, global developmental delay and developmental language disorder, accounted for two thirds of the diagnoses made. For slightly more than one third of the children (75/224), the delay subtype diagnosed following specialty evaluation was different from that initially suspected by the referring physician. A mean delay of 15.5 months was observed for the cohort as a whole between initial parental concern and specialty assessment. For referring physicians, the major factor prompting referral was the severity of the observed delay. The most important aspects of the specialty evaluation according to referral sources were the identification of a possible etiology and confirmation of delay. A profile of referrals and the rationale thereof for a cohort of children with suspected developmental delay is presented that, although locale specific, has implications for service provision and training.

Unmet Health Services Needs Among US Children with Developmental Disabilities: Associations with Family Impact and Child Functioning.

PubMed

Lindly, Olivia J; Chavez, Alison E; Zuckerman, Katharine E

To determine associations of unmet needs for child or family health services with (1) adverse family financial and employment impacts and (2) child behavioral functioning problems among US children with autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID). This was a secondary analysis of parent-reported data from the 2009 to 2010 National Survey of Children with Special Health Care Needs linked to the 2011 Survey of Pathways to Diagnosis and Services. The study sample (n = 3,518) represented an estimated 1,803,112 US children aged 6 to 17 years with current ASD, DD, and/or ID (developmental disabilities). Dependent variables included adverse family financial and employment impacts, as well as child behavioral functioning problems. The independent variables of interest were unmet need for (1) child health services and (2) family health services. Multivariable logistic regression models were fit to examine associations. Unmet need for child and family health services, adverse family financial and employment impacts, and child behavioral functioning problems were prevalent among US children with developmental disabilities. Unmet needs were associated with an increased likelihood of adverse family employment and financial impacts. Unmet needs were associated with an increased likelihood of child behavioral functioning problems the following year; however, this association was not statistically significant. Unmet needs are associated with adverse impacts for children with developmental disabilities and their families. Increased access to and coordination of needed health services following ASD, DD, and/or ID diagnosis may improve outcomes for children with developmental disabilities and their families.

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.

Young Children with Developmental Delays as Young Adults: Predicting Developmental and Personal-Social Outcomes

ERIC Educational Resources Information Center

Bernheimer, Lucinda P.; Keogh, Barbara K.; Guthrie, Donald

2006-01-01

We report on a 20-year follow-up of 30 children with developmental delays identified at age 3. Our purpose was to assess the relationship of early indicators of delay to cognitive and personal-social status in young adulthood. Predictors were Developmental and Personal-Social factors derived from standardized tests and parent questionnaires…

Children with borderline intellectual functioning and autism spectrum disorder: developmental trajectories from 4 to 11 years of age

PubMed Central

Barnevik Olsson, Martina; Holm, Anette; Westerlund, Joakim; Lundholm Hedvall, Åsa; Gillberg, Christopher; Fernell, Elisabeth

2017-01-01

Background Studies on autism have tended to focus either on those with intellectual disability (ie, those with intellectual quotient [IQ] under 70) or on the group that is referred to as “high-functioning”, that is, those with borderline, average or above average IQ. The literature on cognition and daily functioning in autism spectrum disorder combined specifically with borderline intellectual functioning (IQ 70–84) is limited. Methods From a representative group of 208 preschool children diagnosed with autism spectrum disorder, those 50 children in the group with borderline intellectual functioning at ages 4.5–6.5 years were targeted for follow-up at a median age of 10 years. A new cognitive test was carried out in 30 children. Parents were interviewed with a semi-structured interview together with the Vineland Adaptive Behavior Scales (n=41) and the Autism-Tics, attention-deficit/hyperactivity disorder (AD/HD) and other comorbidities inventory (A-TAC) (n=36). Results Most children of interviewed parents presented problems within several developmental areas. According to A-TAC and the clinical interview, there were high rates of attention deficits and difficulties with regulating activity level and impulsivity. Vineland Adaptive Behavior Scales composite scores showed that at school age, a majority of the children had declined since the previous assessment at ages between 4.5 and 6.5 years. Almost half the tested group had shifted in their IQ level, to below 70 or above 84. Conclusion None of the children assessed was without developmental/neuropsychiatric problems at school-age follow-up. The results support the need for comprehensive follow-up of educational, medical and developmental/neuropsychiatric needs, including a retesting of cognitive functions. There is also a need for continuing parent/family follow-up and support. PMID:29042781

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.

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.

Meeting the Challenge of Interpretation: Hearing the Voices of People with Intellectual and Developmental Disability through I-Poems

ERIC Educational Resources Information Center

Corby, Deirdre; Taggart, Laurence; Cousins, Wendy

2018-01-01

Including the inner perspectives of people who have intellectual disability can pose methodological challenges to qualitative researchers. This article explains how the Listening Guide was applied as an additional step in the analysis during a study which used hermeneutic interviews with people with intellectual disability as the sole method of…

Task Force for Expanding Credit and Noncredit Courses for Students with Intellectual and Development Disabilities. Final Report

ERIC Educational Resources Information Center

Maryland Higher Education Commission, 2016

2016-01-01

The Task Force to Study the Impact of Expanding Credit and Noncredit Courses for Students with Intellectual and Developmental Disabilities was formed in July 2013. Chapter 392, Acts of 2013, (House Bill 813) established the Task Force to Study the Impact of Expanding Credit and Noncredit Courses for Students with Intellectual and Developmental…

The Usefulness of the DBC-ASA as a Screening Instrument for Autism in Children with Intellectual Disabilities: A Pilot Study

ERIC Educational Resources Information Center

Deb, Shoumitro; Dhaliwal, Akal-Joat; Roy, Meera

2009-01-01

Aims: To explore the validity of Developmental Behaviour Checklist-Autism Screening Algorithm (DBC-ASA) as a screening instrument for autism among children with intellectual disabilities. Method: Data were collected from the case notes of 109 children with intellectual disabilities attending a specialist clinic in the UK. Results: The mean score…

"Too Withdrawn" or "Too Friendly": Considering Social Vulnerability in Two Neuro-Developmental Disorders

ERIC Educational Resources Information Center

Jawaid, A.; Riby, D. M.; Owens, J.; White, S. W.; Tarar, T.; Schulz, P. E.

2012-01-01

In some neuro-developmental disorders, the combined effect of intellectual disability and atypicalities of social cognition may put individuals at increased vulnerability in their social environment. The neuro-developmental disorders Williams syndrome, characterised by "hypersociability", and autism spectrum disorders, characterised by "social…

Active aging for individuals with intellectual disability: meaningful community participation through employment, retirement, service, and volunteerism.

PubMed

Fesko, Sheila Lynch; Hall, Allison Cohen; Quinlan, Jerrilyn; Jockell, Catherine

2012-11-01

As individuals with intellectual and developmental disabilities become more engaged in community employment, it will be critical to consider how their employment experience changes as they age. Similar to other seniors, individuals will need to consider whether they want to maintain their employment, reduce their work commitment, or retire completely. If they do choose to retire, what activities will they choose to engage in, and what service or supports might be necessary? This article considers the issues faced by all aging workers in regard to retirement planning and active aging as well as specific strategies for individuals with intellectual and developmental disabilities to remain active and engaged. Recommendations for service options, policy consideration, and future research are also discussed.

Identifying state resources and support programs on e-government websites for persons with intellectual and developmental disabilities.

PubMed

Fisher, Kathleen M; Peterson, Justin D; Albert, Jon D

2015-01-01

This descriptive cross-sectional study identified resources and programs that are available nationwide on the Internet to support individuals and families with intellectual and developmental disabilities (I/DD), with a focus on intellectual disability. This evaluation included easily identifiable information on specific resources and highlighted unique programs found in individual states that were linked from e-government websites. Researchers documented the ease of access and available information for all 50 states and the District of Columbia. A number of disparities and areas for improvement were recorded for states and I/DD websites. The researchers conclude that a number of additional health and support services will be needed to address the growing needs of this vulnerable population.

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.

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

PubMed

de Goede, Christian; Yue, Wyatt W; Yan, Guanhua; Ariyaratnam, Shyamala; Chandler, Kate E; Downes, Laura; Khan, Nasaim; Mohan, Meyyammai; Lowe, Martin; Banka, Siddharth

2016-03-01

Next Generation Sequencing (NGS) is a useful tool in diagnosis of rare disorders but the interpretation of data can be challenging in clinical settings. We present results of extended studies on a family of multiple members with global developmental delay and learning disability, where another research group postulated the underlying cause to be a homozygous RABL6 missense variant. Using data from the Exome Variant Server, we show that missense RABL6 variants are unlikely to cause early onset rare developmental disorder. Protein structural analysis, cellular functional studies and reverse phenotyping proved that the condition in this family is due to a homozygous INPP5E mutation. An in-depth review of mutational and phenotypic spectrum associated with INPP5E demonstrated that mutations in this gene lead to a range of cilliopathy-phenotypes. We use this study as an example to demonstrate the importance of careful clinical evaluation of multiple family members, reverse phenotyping, considering the unknown phenotypic variability of rare diseases, utilizing publically available genomic databases and conducting appropriate bioinformatics and functional studies while interpreting results from NGS in uncertain cases. We emphasize that interpretation of NGS data is an iterative process and its dynamic nature should be explained to patients and families. Our study shows that developmental delay, intellectual disability, hypotonia and ocular motor apraxia are common in INPP5E-related disorders and considerable intra-familial phenotypic variability is possible. We have compiled the INPP5E mutational spectrum and provided novel insights into their molecular mechanisms. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Independent predictors of delay in emergence from general anesthesia.

PubMed

Maeda, Shigeru; Tomoyasu, Yumiko; Higuchi, Hitoshi; Ishii-Maruhama, Minako; Egusa, Masahiko; Miyawaki, Takuya

2015-01-01

Some patients with intellectual disabilities spend longer than others in emergence from ambulatory general anesthesia for dental treatment. Although antiepileptic drugs and anesthetics might be involved, an independent predictor for delay of the emergence remains unclear. Thus, a purpose of this study is to identify independent factors affecting the delay of emergence from general anesthesia. This was a retrospective cohort study in dental patients with intellectual disabilities. Patients in need of sedative premedication were removed from participants. The outcome was time until emergence from general anesthesia. Stepwise multivariate regression analysis was used to extract independent factors affecting the outcome. Antiepileptic drugs and anesthetic parameters were included as predictor variables. The study included 102 cases. Clobazam, clonazepam, and phenobarbital were shown to be independent determinants of emergence time. Parameters relating to anesthetics, patients' backgrounds, and dental treatment were not independent factors. Delay in emergence time in ambulatory general anesthesia is likely to be related to the antiepileptic drugs of benzodiazepine or barbiturates in patients with intellectual disability.

Independent Predictors of Delay in Emergence From General Anesthesia

PubMed Central

Maeda, Shigeru; Tomoyasu, Yumiko; Higuchi, Hitoshi; Ishii-Maruhama, Minako; Egusa, Masahiko; Miyawaki, Takuya

2015-01-01

Some patients with intellectual disabilities spend longer than others in emergence from ambulatory general anesthesia for dental treatment. Although antiepileptic drugs and anesthetics might be involved, an independent predictor for delay of the emergence remains unclear. Thus, a purpose of this study is to identify independent factors affecting the delay of emergence from general anesthesia. This was a retrospective cohort study in dental patients with intellectual disabilities. Patients in need of sedative premedication were removed from participants. The outcome was time until emergence from general anesthesia. Stepwise multivariate regression analysis was used to extract independent factors affecting the outcome. Antiepileptic drugs and anesthetic parameters were included as predictor variables. The study included 102 cases. Clobazam, clonazepam, and phenobarbital were shown to be independent determinants of emergence time. Parameters relating to anesthetics, patients' backgrounds, and dental treatment were not independent factors. Delay in emergence time in ambulatory general anesthesia is likely to be related to the antiepileptic drugs of benzodiazepine or barbiturates in patients with intellectual disability. PMID:25849468

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.

Text Recall in Adulthood: The Role of Intellectual Abilities.

ERIC Educational Resources Information Center

Hultsch, David F.; And Others

1984-01-01

Examines age-related predictive relationships among an array of psychometric intellectual ability markers and text recall performance. Women from three age groups (ranging from 21 to 78 years) read and recalled four narratives at three delay intervals and completed a battery of intellectual ability tests. (Author/CB)

Facts about Developmental Disabilities

MedlinePlus

... Children with kernicterus are more likely to have cerebral palsy, hearing and vision problems, and problems with their ... developmental disabilities, such as: ADHD , autism spectrum disorder , cerebral palsy , hearing loss , intellectual disability , learning disability, vision impairment , ...

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.

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/MMA) index. • AS3MT high-risk haplotype was significantly associated with developmental delay.« less

Developmental Trajectories of Structural and Pragmatic Language Skills in School-Aged Children with Williams Syndrome

ERIC Educational Resources Information Center

Van Den Heuvel, E.; Manders, E.; Swillen, A.; Zink, I.

2016-01-01

Background: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. Method: Twelve monolingual…

State of the States in Developmental Disabilities

ERIC Educational Resources Information Center

Braddock, David; Hemp, Richard; Rizzolo, Mary Kay

2008-01-01

This is the latest edition of the "State of the States in Developmental Disabilities" study--a thorough and the only one of its kind investigation on public spending, revenues, and programmatic trends of intellectual and developmental programs and services within the United States since 1977. Directed by leading researcher, Dr. David…

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

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

PubMed

Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny

2016-10-06

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating variants in ASXL2. A careful review enabled the recognition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities. Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. We were also able to demonstrate with mRNA studies that these variants are likely to exert a dominant-negative effect, given that both alleles are expressed in blood and the mutated ASXL2 transcripts escape nonsense-mediated decay. In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes. Copyright © 2016. Published by Elsevier Inc.

Comparison of Constant Time Delay and Simultaneous Prompting Procedures: Teaching Functional Sight Words to Students with Intellectual Disabilities and Autism Spectrum Disorder

ERIC Educational Resources Information Center

Swain, Rasheeda; Lane, Justin D.; Gast, David L.

2015-01-01

Constant time delay (CTD) and simultaneous prompting (SP) are effective response prompting procedures for teaching students with moderate to severe disabilities. The purpose of this study was to compare the efficiency of CTD and SP when teaching functional sight words to four students, 8-11 years of age, with moderate intellectual disability (ID)…

Central nervous system medication use in older adults with intellectual disability: Results from the successful ageing in intellectual disability study.

PubMed

Chitty, Kate M; Evans, Elizabeth; Torr, Jennifer J; Iacono, Teresa; Brodaty, Henry; Sachdev, Perminder; Trollor, Julian N

2016-04-01

Information on the rates and predictors of polypharmacy of central nervous system medication in older people with intellectual disability is limited, despite the increased life expectancy of this group. This study examined central nervous system medication use in an older sample of people with intellectual disability. Data regarding demographics, psychiatric diagnoses and current medications were collected as part of a larger survey completed by carers of people with intellectual disability over the age of 40 years. Recruitment occurred predominantly via disability services across different urban and rural locations in New South Wales and Victoria. Medications were coded according to the Monthly Index of Medical Specialties central nervous system medication categories, including sedatives/hypnotics, anti-anxiety agents, antipsychotics, antidepressants, central nervous system stimulants, movement disorder medications and anticonvulsants. The Developmental Behaviour Checklist for Adults was used to assess behaviour. Data were available for 114 people with intellectual disability. In all, 62.3% of the sample was prescribed a central nervous system medication, with 47.4% taking more than one. Of those who were medicated, 46.5% had a neurological diagnosis (a seizure disorder or Parkinson's disease) and 45.1% had a psychiatric diagnosis (an affective or psychotic disorder). Linear regression revealed that polypharmacy was predicted by the presence of neurological and psychiatric diagnosis, higher Developmental Behaviour Checklist for Adults scores and male gender. This study is the first to focus on central nervous system medication in an older sample with intellectual disability. The findings are in line with the wider literature in younger people, showing a high degree of prescription and polypharmacy. Within the sample, there seems to be adequate rationale for central nervous system medication prescription. Although these data do not indicate non-adherence to guidelines for prescribing in intellectual disability, the high rate of polypharmacy and its relationship to Developmental Behaviour Checklist for Adults scores reiterate the importance of continued medication review in older people with intellectual disability. © The Royal Australian and New Zealand College of Psychiatrists 2015.

Sleep Problems and Early Developmental Delay: Implications for Early Intervention Programs

ERIC Educational Resources Information Center

Bonuck, Karen; Grant, Roy

2012-01-01

Sleep disorders negatively impact behavior, cognition, and growth--the same areas targeted by early intervention. Conversely, developmental delays and disabilities may themselves precipitate sleep disorders. Young children with developmental delays experience sleep disorders at a higher rate than do typically developing children; the most common…

Delaying Developmental Mathematics: The Characteristics and Costs

ERIC Educational Resources Information Center

Johnson, Marianne; Kuennen, Eric

2004-01-01

This paper investigates which students delay taking a required developmental mathematics course and the impact of delay on student performance in introductory microeconomics. Analysis of a sample of 1462 students at a large Midwestern university revealed that, although developmental-level mathematics students did not reach the same level of…

The plasticity of intellectual development: insights from preventive intervention.

PubMed

Ramey, C T; Yeates, K O; Short, E J

1984-10-01

Debates regarding the plasticity of intelligence are often fired by a confusion between 2 distinct realms of development, that is, between developmental functions (e.g., a group's average IQ over time) and individual differences (e.g., the relative rank ordering of individual IQs within a group). Questions concerning the stability of these 2 realms are statistically independent. Thus there are 2 kinds of intellectual plasticity, and there may be no developmental convergences between them. In the present study, data from an early intervention program were used to investigate the 2 kinds of plasticity separately and to examine certain possible convergences between them. The program involved children at risk for developmental retardation who were randomly assigned at birth to 2 rearing conditions (i.e., educational daycare vs. no educational intervention) and whose intellectual development was then studied longitudinally to 4 years of age. Our findings indicate that developmental functions are moderately alterable through systemic early education, particularly after infancy, whereas individual differences are moderately stable, again particularly after infancy. They also indicate that the 2 kinds of plasticity are independent; the alteration of developmental functions through daycare affects neither the stability nor the determinants of individual differences. We discuss the implications that these findings have for current models of mental development, for the nature-nurture debate, and for arguments concerning the efficacy of early intervention programs.

Relationship between intellectual status and reading skills for developmentally disabled children.

PubMed

Bloom, A; Wagner, M; Bergman, A; Altshuler, L; Raskin, L

1981-06-01

The relationship between WISC-R Full Scale IQ and scores on the Woodcock Reading Mastery Tests were explored for 80 developmentally disabled children. While the children's reading skills correlated moderately and significantly with intellectual status, abstract reading skills, e.g., word comprehension, correlated more highly with Full Scale IQ than did concrete ones, e.g., word identification. The development of concrete learning patterns by such children was discussed, with an emphasis on the emotional importance of these learning styles to the children and their families.

Phenotype in patients with intellectual disability and pathological results in array CGH.

PubMed

Caballero Pérez, V; López Pisón, F J; Miramar Gallart, M D; González Álvarez, A; García Jiménez, M C; García Iñiguez, J P; Orden Rueda, C; Gil Hernández, I; Fuertes Rodrigo, C; Fernando Martínez, R; Rodríguez Valle, A; Alcaine Villarroya, M J

Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Molecular mechanisms underlying neurodevelopmental disorders, ADHD and autism.

PubMed

Bădescu, George Mihai; Fîlfan, Mădălina; Sandu, Raluca Elena; Surugiu, Roxana; Ciobanu, Ovidiu; Popa-Wagner, Aurel

2016-01-01

Neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism represent a significant economic burden, which justify vigorous research to uncover its genetics and developmental clinics for a diagnostic workup. The urgency of addressing attention deficit hyperactivity disorder comorbidities is seen in the chilling fact that attention deficit hyperactivity disorder (ADHD), mood disorders, substance use disorders and obesity each increase the risk for mortality. However, data about comorbidity is mainly descriptive, with mechanistic studies limited to genetic epidemiological studies that document shared genetic risk factors among these conditions. Autism and intellectual disability affects 1.5 to 2% of the population in Western countries with many individuals displaying social-emotional agnosia and having difficulty in forming attachments and relationships. Underlying mechanisms include: (i) dysfunctions of neuronal miRNAs; (ii) deletions in the chromosome 21, subtelomeric deletions, duplications and a maternally inherited duplication of the chromosomal region 15q11-q13; (iii) microdeletions in on the long (q) arm of the chromosome in a region designated q21.1 increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems associated with autism, schizophrenia, and epilepsy and weak muscle tone (hypotonia); (iv) interstitial duplications encompassing 16p13.11.

Everyday Memory and Working Memory in Adolescents with Mild Intellectual Disability

ERIC Educational Resources Information Center

Van der Molen, M. J.; Van Luit, J. E. H.; Van der Molen, Maurits W.; Jongmans, Marian J.

2010-01-01

Everyday memory and its relationship to working memory was investigated in adolescents with mild intellectual disability and compared to typically developing adolescents of the same age (CA) and younger children matched on mental age (MA). Results showed a delay on almost all memory measures for the adolescents with mild intellectual disability…

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

PubMed

Baumann, M; Steichen-Gersdorf, E; Krabichler, B; Müller, T; Janecke, A R

2017-07-01

The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8 year old boy with the same pattern of MCA. The phenotype of these patients is characterized by postnatal short stature, skeletal anomalies of the thorax, a minor congenital heart or vascular defect, camptodactyly, micropenis, and variable additional anomalies. Motor development is delayed in both patients, and intellectual development is delayed in one patient. Our observation of a second case supports the notion that bi-allelic mutations in SEMA3A cause an autosomal recessive type of syndromic short stature. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Magnetic resonance imaging (MRI) evaluation of developmental delay in pediatric patients.

PubMed

Ali, Althaf S; Syed, Naziya P; Murthy, G S N; Nori, Madhavi; Abkari, Anand; Pooja, B K; Venkateswarlu, J

2015-01-01

Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the developmental delay in Indian children which will help the clinicians in providing an estimation of the child's ultimate developmental potential and organize specific treatment requirement and also relieve parental apprehension. To study the prevalence of normal and abnormal MRI in pediatric patients presenting with developmental delay and further categorize the abnormal MRI based on its morphological features. It is a prospective, observational & descriptive study of MRI Brain in 81 paediatric patients (46 Males and 35 Females), aged between three months to 12 years; presenting with developmental delay in Deccan College of Medical Sciences, Hyderabad; over a period of three years (Sept 2011 to Sept 2014). MRI brain was done on 1.5T Siemens Magnetom Essenza & 0.35T Magnetom C with appropriate sequences and planes after making the child sleep/sedated/ anesthetized. Various anatomical structures like Ventricles, Corpus callosum, etc were systematically assessed. The MRI findings were divided into various aetiological subgroups. Normal MRI findings were seen in 32% cases and 68% had abnormal findings of which the proportion of Traumatic/ Neurovascular Diseases, Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were 31%, 17%, 10%, 2.5% and 7.5% respectively. The ventricles and white matter mainly the corpus callosum were the most commonly affected anatomical structures. The diagnostic yield was found to be 68% and higher yield was seen in patients presenting with developmental delay plus. The clinical diagnosis of developmental delay should not be the end point, but rather a springboard for an effective search for causal factors. MRI is the best investigation with a high yield in such patients.

Magnetic Resonance Imaging (MRI) Evaluation of Developmental Delay in Pediatric Patients

PubMed Central

Syed, Naziya P.; Murthy, G.S.N.; Nori, Madhavi; Abkari, Anand; Pooja, B.K.; Venkateswarlu, J.

2015-01-01

Introduction: Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the developmental delay in Indian children which will help the clinicians in providing an estimation of the child’s ultimate developmental potential and organize specific treatment requirement and also relieve parental apprehension. Aims and Objectives: To study the prevalence of normal and abnormal MRI in pediatric patients presenting with developmental delay and further categorize the abnormal MRI based on its morphological features. Materials and Methods: It is a prospective, observational & descriptive study of MRI Brain in 81 paediatric patients (46 Males and 35 Females), aged between three months to 12 years; presenting with developmental delay in Deccan College of Medical Sciences, Hyderabad; over a period of three years (Sept 2011 to Sept 2014). MRI brain was done on 1.5T Siemens Magnetom Essenza & 0.35T Magnetom C with appropriate sequences and planes after making the child sleep/sedated/ anesthetized. Various anatomical structures like Ventricles, Corpus callosum, etc were systematically assessed. The MRI findings were divided into various aetiological subgroups. Results: Normal MRI findings were seen in 32% cases and 68% had abnormal findings of which the proportion of Traumatic/ Neurovascular Diseases, Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were 31%, 17%, 10%, 2.5% and 7.5% respectively. The ventricles and white matter mainly the corpus callosum were the most commonly affected anatomical structures. The diagnostic yield was found to be 68% and higher yield was seen in patients presenting with developmental delay plus. Conclusion: The clinical diagnosis of developmental delay should not be the end point, but rather a springboard for an effective search for causal factors. MRI is the best investigation with a high yield in such patients. PMID:25738057

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).

Doing Justice? Criminal Offenders with Developmental Disabilities. Detailed Research Findings.

ERIC Educational Resources Information Center

Petersilia, Joan

People with cognitive, intellectual, or developmental disabilities are a small but increasing portion of offenders in the criminal justice system. People with developmental disabilities are estimated to comprise 2-3% of the general population, but 4-10% of the prison population, and an even higher percentage of those in juvenile facilities and in…

What Aspects of Face Processing Are Impaired in Developmental Prosopagnosia?

ERIC Educational Resources Information Center

Le Grand, Richard; Cooper, Philip A.; Mondloch, Catherine J.; Lewis, Terri L.; Sagiv, Noam; de Gelder, Beatrice; Maurer, Daphne

2006-01-01

Developmental prosopagnosia (DP) is a severe impairment in identifying faces that is present from early in life and that occurs despite no apparent brain damage and intact visual and intellectual function. Here, we investigated what aspects of face processing are impaired/spared in developmental prosopagnosia by examining a relatively large group…

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis.

PubMed

Katz, Gregorio; Lazcano-Ponce, Eduardo

2008-01-01

ETIOLOGY AND CLASSIFICATION: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acquired (congenital and developmental), environmental and sociocultural. Likewise, in relation to the classification, cognitive disability has as a common denominator a subnormal intellectual functioning level; nevertheless, the extent to which an individual is unable to face the demands established by society for the individuals age group has brought about four degrees of severity: Mild, moderate, severe and profound. The clinical history must put an emphasis on healthcare during the prenatal, perinatal and postnatal period and include the results of all previous studies, including a genealogical tree for at least three generations and an intentional search for family antecedents of mental delay, psychiatric illnesses and congenital abnormalities. The physical exam should focus on secondary abnormalities and congenital malformations, somatometric measurements and neurological and behavioral phenotype evaluations. If it is not feasible to establish a clinical diagnosis, it is necessary to conduct high-resolution cytogenetic studies in addition to metabolic clinical evaluations. In the next step, if no abnormal data are identified, submicroscopic chromosomal disorders are evaluated. Intellectual disability is not curable; and yet, the prognostic in general terms is good when using the emotional wellbeing of the individual as a parameter. Intellectual disability should be treated in a comprehensive manner. Nevertheless, currently, the fundamental task and perhaps the only one that applies is the detection of the limitation and abilities as a function of subjects age and expectations for the future, with the only goal being to provide the support necessary for each one of the dimensions or areas in which the persons life is expressed and exposed.

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.

PubMed

Yagihashi, Tatsuhiko; Torii, Chiharu; Takahashi, Reiko; Omori, Mikimasa; Kosaki, Rika; Yoshihashi, Hiroshi; Ihara, Masahiro; Minagawa-Kawai, Yasuyo; Yamamoto, Junichi; Takahashi, Takao; Kosaki, Kenjiro

2014-11-01

To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age = 0.51 × chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome. © 2014 Japanese Teratology Society.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PubMed

Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo

2017-12-01

To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations. Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel. The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent seizures became seizure free; the mean age at seizure offset was 4.25 years. Epilepsy phenotypes comprised West syndrome in 2 patients, infantile-onset unspecified generalized epilepsy, myoclonic and photosensitive eyelid myoclonia epilepsy resembling Jeavons syndrome, Lennox-Gastaut syndrome, and focal epilepsy with prolonged occipital or clonic seizures in each and every one. Five patients had developmental delay prior to seizure onset evolving into severe intellectual disability with absent speech and autistic traits in one and stereotypic hand movements with impulse control disorder in another. The patient with Jeavons syndrome evolved into moderate intellectual disability. Mutations were de novo, 4 missense and 2 nonsense, 5 were novel, and 1 resulted from somatic mosaicism. KCNB1 -related manifestations include a spectrum of infantile-onset generalized or focal seizures whose combination leads to early infantile epileptic encephalopathy including West, Lennox-Gastaut, and Jeavons syndromes. Long-term follow-up highlights that following a stormy phase, seizures subside or cease and treatment may be eased or withdrawn. Cognitive and motor functions are almost always delayed prior to seizure onset and evolve into severe, persistent impairment. Thus, KCNB1 mutations are associated with diffuse brain dysfunction combining seizures, motor, and cognitive impairment.

Variation in Educational Services Receipt Among US Children with Developmental Conditions

PubMed Central

Lindly, Olivia J.; Sinche, Brianna K.; Zuckerman, Katharine E.

2015-01-01

Objectives This study examined (1) the relationship between ease of access to needed community-based services (ease of access) and educational services receipt and (2) variation in educational services receipt by sociodemographic and need factors among a nationally representative sample of children with autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID). Methods Data from the 2009–10 National Survey of Children with Special Health Care Needs were linked to the 2011 Survey of Pathways to Diagnosis and Services on a sample of 3,502 US children aged 6–17 years with ASD, DD, and/or ID. Descriptive statistics, chi-square tests, and multivariable logistic regression models were used to determine associations of educational services receipt with (1) ease of access and (2) sociodemographic and need factors. Results Among children with developmental conditions, nearly half (49.7%) lacked easy access to services and 16.9% did not have an individualized education program (IEP). Among children with an IEP, those with ease of access were more likely to have an IEP that addressed parent concerns about the child’s development and education than those unable to easily access services (aOR: 2.77; 95% CI: 1.71–4.49). Need factors, including functional limitations status, care coordination need, developmental condition type, and early intervention receipt, were significantly associated with educational services receipt. Conclusions Cross-systems initiatives facilitating service access remain important to ensuring the developmental needs of children with ASD, DD, and/or ID are met. Increased inter-professional collaboration promoting quality educational services receipt for children diagnosed with developmental conditions may further reduce disparities. PMID:26344719

Variation in Educational Services Receipt Among US Children With Developmental Conditions.

PubMed

Lindly, Olivia J; Sinche, Brianna K; Zuckerman, Katharine E

2015-01-01

To examine the relationship between ease of access to needed community-based services (ease of access) and educational services receipt, and variation in educational services receipt by sociodemographic and need factors among a nationally representative sample of children with autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID). Data from the 2009-2010 National Survey of Children with Special Health Care Needs were linked to the 2011 Survey of Pathways to Diagnosis and Services on a sample of 3502 US children aged 6 to 17 years with ASD, DD, and/or ID. Descriptive statistics, chi-square tests, and multivariable logistic regression models were used to determine associations of educational services receipt with ease of access and sociodemographic and need factors. Among children with developmental conditions, nearly half (49.7%) lacked easy access to services, and 16.9% did not have an individualized education program (IEP). Among children with an IEP, those with ease of access were more likely to have an IEP that addressed parent concerns about the child's development and education than those unable to easily access services (adjusted odds ratio 2.77; 95% confidence interval 1.71-4.49). Need factors, including functional limitations status, care coordination need, developmental condition type, and early intervention receipt, were significantly associated with educational services receipt. Cross-systems initiatives facilitating service access remain important to ensuring the developmental needs of children with ASD, DD, and/or ID are met. Increased interprofessional collaboration promoting quality educational services receipt for children diagnosed with developmental conditions may further reduce disparities. Copyright © 2015 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

PubMed

Michelson, D J; Shevell, M I; Sherr, E H; Moeschler, J B; Gropman, A L; Ashwal, S

2011-10-25

To systematically review the evidence concerning the diagnostic yield of genetic and metabolic evaluation of children with global developmental delay or intellectual disability (GDD/ID). Relevant literature was reviewed, abstracted, and classified according to the 4-tiered American Academy of Neurology classification of evidence scheme. In patients with GDD/ID, microarray testing is diagnostic on average in 7.8% (Class III), G-banded karyotyping is abnormal in at least 4% (Class II and III), and subtelomeric fluorescence in situ hybridization is positive in 3.5% (Class I, II, and III). Testing for X-linked ID genes has a yield of up to 42% in males with an appropriate family history (Class III). FMR1 testing shows full expansion in at least 2% of patients with mild to moderate GDD/ID (Class II and III), and MeCP2 testing is diagnostic in 1.5% of females with moderate to severe GDD/ID (Class III). Tests for metabolic disorders have a yield of up to 5%, and tests for congenital disorders of glycosylation and cerebral creatine disorders have yields of up to 2.8% (Class III). Several genetic and metabolic screening tests have been shown to have a better than 1% diagnostic yield in selected populations of children with GDD/ID. These values should be among the many factors considered in planning the laboratory evaluation of such children.

Case study: child with global developmental delay.

PubMed

Okumakpeyi, Pearline; Lunney, Margaret

2010-01-01

This case study focused on the care of a child with global developmental delay. Data were obtained through the author's clinical practice in long-term care pediatric rehabilitation and literature sources. NANDA-International Classifications, the Nursing Interventions Classification (NIC), and Nursing Outcomes Classification (NOC) were used to identify the appropriate nursing diagnosis, nursing interventions, and patient outcomes. This case study provides the pertinent nursing diagnoses, interventions, and outcomes for a child with global developmental delay. The interdisciplinary team approach and family involvement is addressed. Use of NANDA, NIC, and NOC outcomes constructs for enhancing the care of a child with global developmental delay.

A Developmental Perspective on Intelligence.

ERIC Educational Resources Information Center

Grubb, Henry J.

One important source of biological determinants to intellectual behavior is the immediate family of origin. When family history is taken into consideration, it is necessary to examine the environmental aspects of intellectual development in conjunction with the biological. Herein lies the usefulness of a transactional model of development over…

Obesity, Nutrition, and Physical Activity for People with Significant Disabilities

ERIC Educational Resources Information Center

Grumstrup, Brianna; Demchak, MaryAnn

2017-01-01

This review of literature focuses on health issues for individuals with Intellectual Disabilities (ID), Intellectual and Developmental Disabilities (IDD), and Multiple Impairments (MI). This population has two to three times higher overweight and obesity prevalence than typically developing individuals. Furthermore, they have higher risk for…

Choosing Employment: Factors that Impact Employment Decisions for Individuals with Intellectual Disability

ERIC Educational Resources Information Center

Timmons, Jaimie Ciulla; Hall, Allison Cohen; Bose, Jennifer; Wolfe, Ashley; Winsor, Jean

2011-01-01

Little is known about the factors that shape the employment-related decisions of individuals with intellectual and/or developmental disabilities. Findings from qualitative interviews with individuals, their family members, and employment-support professionals from four community rehabilitation providers throughout Massachusetts were reported.…

High-technology augmentative and alternative communication for individuals with intellectual and developmental disabilities and complex communication needs: a meta-analysis.

PubMed

Ganz, Jennifer B; Morin, Kristi L; Foster, Margaret J; Vannest, Kimberly J; Genç Tosun, Derya; Gregori, Emily V; Gerow, Stephanie L

2017-12-01

The use of mobile technology is ubiquitous in modern society and is rapidly increasing in novel use. The use of mobile devices and software applications ("apps") as augmentative and alternative communication (AAC) is rapidly expanding in the community, and this is also reflected in the research literature. This article reports the social-communication outcome results of a meta-analysis of single-case experimental research on the use of high-tech AAC, including mobile devices, by individuals with intellectual and developmental disabilities, including autism spectrum disorder. Following inclusion determination, and excluding studies with poor design quality, raw data from 24 publications were extracted and included 89 A-B phase contrasts. Tau-U nonparametric, non-overlap effect size was used to aggregate the results across all studies for an omnibus and moderator analyses. Kendall's S was calculated for confidence intervals, p-values, and standard error. The omnibus analysis indicated overall low to moderate positive effects on social-communication outcomes for high-tech AAC use by individuals with intellectual and developmental disabilities.

Inclusion Through Work and Productivity for Persons with Intellectual and Developmental Disabilities.

PubMed

Lysaght, Rosemary; Petner-Arrey, Jami; Howell-Moneta, Angela; Cobigo, Virginie

2017-09-01

Employment provides an important avenue to social inclusion for most adults. A range of productivity options exist for persons with intellectual and developmental disabilities (IDD) who wish to work, each offering unique challenges relative to inclusion. This qualitative study examined the productivity experiences of people with intellectual and developmental disabilities in Ontario, Canada. A purposive sample of 74 individuals with productivity experiences spanning the spectrum of no employment to community-based jobs was selected from a pool of volunteers recruited through a mailed survey. Semi-structured interviews were conducted with individuals and family members. Interview transcripts were subjected to a team-based analysis using grounded theory methods. Varying needs and interests exist in regard to work. Participants revealed a multitude of factors contributing to inclusion and exclusion through productivity. Productivity, whether paid or unpaid, can be an avenue to social inclusion. The experience of inclusion, particularly of belonging, depends on a successfully negotiated congruence between worker attributes and the social features and demands of the work environment. © 2016 John Wiley & Sons Ltd.

Level of Sense-Making in Children with Autistic Disorder and Intellectual Disability: Patterns of Delay and Deviance in Development

ERIC Educational Resources Information Center

Maljaars, Jarymke; Noens, Ilse; Scholte, Evert; van Berckelaer-Onnes, Ina

2012-01-01

The present study examined levels of sense-making in relation to adaptive functioning and autism symptomatology in low-functioning children with autistic disorder. Thirty-six children with autistic disorder and intellectual disability were compared with 27 children with intellectual disability and 33 typically developing children with a comparable…

Delayed Maturation of Fast-Spiking Interneurons Is Rectified by Activation of the TrkB Receptor in the Mouse Model of Fragile X Syndrome.

PubMed

Nomura, Toshihiro; Musial, Timothy F; Marshall, John J; Zhu, Yiwen; Remmers, Christine L; Xu, Jian; Nicholson, Daniel A; Contractor, Anis

2017-11-22

Fragile X syndrome (FXS) is a neurodevelopmental disorder that is a leading cause of inherited intellectual disability, and the most common known cause of autism spectrum disorder. FXS is broadly characterized by sensory hypersensitivity and several developmental alterations in synaptic and circuit function have been uncovered in the sensory cortex of the mouse model of FXS ( Fmr1 KO). GABA-mediated neurotransmission and fast-spiking (FS) GABAergic interneurons are central to cortical circuit development in the neonate. Here we demonstrate that there is a delay in the maturation of the intrinsic properties of FS interneurons in the sensory cortex, and a deficit in the formation of excitatory synaptic inputs on to these neurons in neonatal Fmr1 KO mice. Both these delays in neuronal and synaptic maturation were rectified by chronic administration of a TrkB receptor agonist. These results demonstrate that the maturation of the GABAergic circuit in the sensory cortex is altered during a critical developmental period due in part to a perturbation in BDNF-TrkB signaling, and could contribute to the alterations in cortical development underlying the sensory pathophysiology of FXS. SIGNIFICANCE STATEMENT Fragile X (FXS) individuals have a range of sensory related phenotypes, and there is growing evidence of alterations in neuronal circuits in the sensory cortex of the mouse model of FXS ( Fmr1 KO). GABAergic interneurons are central to the correct formation of circuits during cortical critical periods. Here we demonstrate a delay in the maturation of the properties and synaptic connectivity of interneurons in Fmr1 KO mice during a critical period of cortical development. The delays both in cellular and synaptic maturation were rectified by administration of a TrkB receptor agonist, suggesting reduced BDNF-TrkB signaling as a contributing factor. These results provide evidence that the function of fast-spiking interneurons is disrupted due to a deficiency in neurotrophin signaling during early development in FXS. Copyright © 2017 the authors 0270-6474/17/3711298-13$15.00/0.

The child with developmental delay: An approach to etiology

PubMed Central

Meschino, Wendy S

2003-01-01

OBJECTIVE: To describe an approach to history, physical examination and investigation for the developmentally delayed child. METHODS: A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation. CONCLUSIONS: A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features. PMID:20011550

Overweight and obesity among adults with intellectual disabilities who use intellectual disability/developmental disability services in 20 U.S. States.

PubMed

Stancliffe, Roger J; Lakin, K Charlie; Larson, Sheryl; Engler, Joshua; Bershadsky, Julie; Taub, Sarah; Fortune, Jon; Ticha, Renata

2011-11-01

The authors compare the prevalence of obesity for National Core Indicators (NCI) survey participants with intellectual disability and the general U.S. adult population. In general, adults with intellectual disability did not differ from the general population in prevalence of obesity. For obesity and overweight combined, prevalence was lower for males with intellectual disability than for the general population but similar for women. There was higher prevalence of obesity among women with intellectual disability, individuals with Down syndrome, and people with milder intellectual disability. Obesity prevalence differed by living arrangement, with institutional residents having the lowest prevalence and people living in their own home the highest. When level of intellectual disability was taken into account, these differences were reduced, but some remained significant, especially for individuals with milder disability.

The Political History of Developmental Studies in the University System of Georgia

ERIC Educational Resources Information Center

Presley, John W.; Dodd, William M.

2008-01-01

The political history of developmental education in post-secondary education is as revealing as its intellectual history. With a University system-wide Developmental Studies program initiated in 1974, the State of Georgia was a pioneer in remedial education and open access. Unfortunately, the program became linked in Georgia media, and in Georgia…

Applying the Universal Design for Learning Framework for Individuals With Intellectual Disability: The Future Must Be Now.

PubMed

Smith, Sean J; Lowrey, K Alisa

2017-02-01

The current research in Universal Design for Learning (UDL) for students with intellectual disability (ID) is briefly summarized and considered in light of the national goals presented by the American Association on Intellectual and Developmental Disabilities (AAIDD) in this article. Additionally, an action plan is provided for researchers and practitioners to extend knowledge on the implementation of the UDL framework inclusive of individuals with ID.

Disconnected Lives: Women with Intellectual Disabilities in Conflict with the Law

ERIC Educational Resources Information Center

Levine, Kathryn Ann; Proulx, Jocelyn; Schwartz, Karen

2018-01-01

Background: Women with intellectual/developmental disabilities in conflict with the law experience childhood trauma, substance abuse and intimate partner violence but continue to have difficulty accessing appropriate therapeutic services, both within correctional settings and upon discharge. The aim of this study is to explore women's service…

IASSIDD: Are We Practicing Knowledge Translation Effectively?

ERIC Educational Resources Information Center

Timmons, Vianne

2013-01-01

The International Association for the Study of Intellectual and Developmental Disabilities (IASSIDD) was established in the early 1960s with the mission of advancing research in the field of intellectual disabilities. This article explores the history and impact of IASSIDD. In particular, it focuses on IASSIDD's role in the area of "knowledge…

Social Peer Interactions in Persons with Profound Intellectual and Multiple Disabilities: A Literature Review

ERIC Educational Resources Information Center

Nijs, Sara; Maes, Bea

2014-01-01

Social interactions may positively influence developmental and quality of life outcomes. Research in persons with profound intellectual and multiple disabilities (PIMD) mostly investigated interactions with caregivers. This literature review focuses on peer interactions of persons with PIMD. A computerized literature search of three databases was…

THE DEUTSCH MODEL--INSTITUTE FOR DEVELOPMENTAL STUDIES.

ERIC Educational Resources Information Center

New York Univ., NY. Inst. for Developmental Studies.

THE DEUTSCH INTERVENTION MODEL IS BASED ON THE THEORY THAT ENVIRONMENT PLAYS A MAJOR ROLE IN THE DEVELOPMENT OF COGNITIVE SKILLS AND OF FUNCTIONAL USE OF INTELLECTUAL CAPABILITIES. DISADVANTAGED CHILDREN HAVE INTELLECTUAL DEFICITS WHICH MAY BE OVERCOME BY USE OF MATCHED REMEDIAL MEASURES. LANGUAGE SKILLS AND MOTIVATION CAN BE IMPROVED BY TEACHING…

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…

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…

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…

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…

Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.

PubMed

Leme, D E S; Souza, D H; Mercado, G; Pastene, E; Dias, A; Moretti-Ferreira, D

2013-09-04

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH. We concluded that all three systems could be used for the clinical diagnosis of WBS, but they all gave a low percentage of false-positive (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be associated with FISH testing.

Redefining the MED13L syndrome

PubMed Central

Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Björn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, João; Soares, Gabriela; Lopes, Fátima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F; Angus, Steven P; Staropoli, John F; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M; Kalscheuer, Vera M

2015-01-01

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits. PMID:25758992

Redefining the MED13L syndrome.

PubMed

Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Björn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, João; Soares, Gabriela; Lopes, Fátima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F; Angus, Steven P; Staropoli, John F; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M; Kalscheuer, Vera M

2015-10-01

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

PubMed

Gillentine, M A; Berry, L N; Goin-Kochel, R P; Ali, M A; Ge, J; Guffey, D; Rosenfeld, J A; Hannig, V; Bader, P; Proud, M; Shinawi, M; Graham, B H; Lin, A; Lalani, S R; Reynolds, J; Chen, M; Grebe, T; Minard, C G; Stankiewicz, P; Beaudet, A L; Schaaf, C P

2017-03-01

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

PubMed

Zarate, Yuri A; Fish, Jennifer L

2017-02-01

The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2-associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

PubMed

Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L; Ledbetter, David H; Spiro, John E; Chung, Wendy K; Hanson, Ellen

2016-08-01

The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

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.

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.

Supporting Optimal Neurodevelopmental Outcomes in Infants and Children With Congenital Heart Disease.

PubMed

Peterson, Jennifer K

2018-06-01

Improved survival has led to increased recognition of developmental delays in infants and children with congenital heart disease. Risk factors for developmental delays in congenital heart disease survivors may not be modifiable; therefore, it is important that lifesaving, high-technology critical care interventions be combined with nursing interventions that are also developmentally supportive. Implementing developmental care in a pediatric cardiac intensive care unit requires change implementation strategies and widespread support from all levels of health care professionals. This manuscript reviews developmentally supportive interventions such as massage, developmentally supportive positioning, kangaroo care, cue-based feeding, effective pain/anxiety management, and procedural preparation and identifies strategies to implement developmentally supportive interventions in the care of infants and children with congenital heart disease. Improving developmental support for these infants and children at high risk for developmental delay may improve their outcomes and help promote family-centered care. ©2018 American Association of Critical-Care Nurses.

Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.

PubMed

Gipson, Tanjala T; Gerner, Gwendolyn; Srivastava, Siddharth; Poretti, Andrea; Vaurio, Rebecca; Hartman, Adam; Johnston, Michael V

2014-09-01

Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers. During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy. Many risk factors have been associated with intellectual disability and/or autism in individuals with tuberous sclerosis complex; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long-term cognitive and psychiatric outcomes. Copyright © 2014 Elsevier Inc. All rights reserved.