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Direct linkLatha Valluripalli Soorya; Camille W. Brune; Cristan A. Farmer; Edith V. Ocampo; Natalie I. Berger; Deborah A. Pearson; Robyn M. Busch; Patricia Klaas; Paige Siper; Kristn Currans; Amanda C. Gulsrud; Jennifer M. Phillips; Rajna Filip-Dhima; Sarah E. O’Kelley; Thomas W. Frazier; Tess Levy; Allison L. Wainer; Joseph D. Buxbaum; Craig M. Powell; Jonathan A. Bernstein; Simon K. Warfield; Darcy A. Krueger; E. Martina Bebin; Hope Northrup; Shafali S. Jeste; Alexander Kolevzon; Elizabeth Berry-Kravis; Mustafa Sahin; Siddharth Srivastava; Audrey Thurm – American Journal on Intellectual and Developmental Disabilities, 2025
The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and…
Descriptors: Intellectual Disability, Genetic Disorders, Neurological Impairments, Measurement Techniques
Berry-Kravis, Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2022
Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…
Descriptors: Genetic Disorders, Intellectual Disability, Autism, Pervasive Developmental Disorders
Agarwal, Rumi; Maddux, Marlaina; Marolda, Heather; Quintana, Jordan; Wagner, Eric; Burke, Shanna – International Journal of Disability, Development and Education, 2022
Programmes which offer integrated services were analysed to identify model international and domestic programmes serving adults with neurodevelopmental disorders. Programmes were assessed according to 11 need domains identified in a previous study: supervision, transportation, housing, communication, finances/employment opportunities, activities…
Descriptors: Adults, Program Evaluation, Neurological Impairments, Developmental Disabilities
Kelleher, Bridgette; Halligan, Taylor; Garwood, Tessa; Howell, Samantha; Martin-O'Dell, Breanna; Swint, Amber; Shelton, Liberty-Ann; Shin, Joey – Journal of Autism and Developmental Disorders, 2020
It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol 10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to…
Descriptors: Clinical Diagnosis, Neurological Impairments, Genetic Disorders, Intellectual Disability
Pearson-Allen, Jess; Maricle, Denise E. – Communique, 2021
Angelman syndrome (AS) is a rare neurogenetic disorder that is characterized by myriad genetic, physical, and behavioral abnormalities (Buiting et al., 2016; Thibert et al., 2013; Wheeler et al., 2017). Due to complex developmental delays and intellectual disability associated with AS, including gross/fine motor delays, lack of speech, and…
Descriptors: Neurological Impairments, Genetic Disorders, Intellectual Disability, Speech Impairments
Haydar, Tarik F. – American Journal on Intellectual and Developmental Disabilities, 2020
One of the overriding hopes of the Down syndrome (DS) research community is to arrive at a better understanding of how trisomy 21 affects brain development and function, and that doing so will improve quality of life and independence for people with DS. In searching for the underlying causes of intellectual disability in DS, researchers and…
Descriptors: Down Syndrome, Medical Research, Brain Hemisphere Functions, Genetic Disorders
Márquez-Caraveo, María Elena; Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Ramírez-García, Miguel Ángel; Pérez-Barrón, Verónica; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela – Journal of Autism and Developmental Disorders, 2021
The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…
Descriptors: Foreign Countries, Mexicans, Clinical Diagnosis, Genetic Disorders
Ellis, Katherine; Oliver, Chris; Stefanidou, Chrysi; Apperly, Ian; Moss, Jo – Journal of Autism and Developmental Disorders, 2020
We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with…
Descriptors: Interpersonal Competence, Motivation, Neurological Impairments, Genetic Disorders
Nordahl-Hansen, Anders; Donolato, Enrica; Lervåg, Arne; Norbury, Courtenay Frazier; Melby-Lervåg, Monica – Campbell Systematic Reviews, 2019
This protocol presents the plan for a systematic review that investigates the effect of oral language interventions for children with intellectual disability (ID), language disorder (LD), autism spectrum disorder (ASD), Down syndrome (DS), Williams syndrome (WS), and fragile X syndrome (FXS). Language development is a highly frequent area of…
Descriptors: Intervention, Oral Language, Children, Intellectual Disability
Ashworth, Maria; Palikara, Olympia; Van Herwegen, Jo – Journal of Applied Research in Intellectual Disabilities, 2019
Background: Although parental stress is higher for children with neurodevelopmental disorders (NDs), it is unclear how this stress compares to more common NDs. The current study compared stress in parents of children with Williams syndrome (WS), Down syndrome (DS) and autism spectrum disorders (ASD). The impact of individual and contextual factors…
Descriptors: Developmental Disabilities, Neurological Impairments, Autism, Pervasive Developmental Disorders
Redley, Marcus; Pannebakker, Merel; Holland, Anthony – Journal of Applied Research in Intellectual Disabilities, 2018
Background: Advances in medical genetics herald the possibility that health and social care services could be more responsive to the needs arising from a person's genotype. This development may be particularly important for those men and women whose learning disability (known internationally as intellectual disability) is linked to a…
Descriptors: Genetic Disorders, Social Support Groups, Parent Attitudes, Well Being
Ezell, Jordan; Hogan, Abigail; Fairchild, Amanda; Hills, Kimberly; Klusek, Jessica; Abbeduto, Leonard; Roberts, Jane – Journal of Autism and Developmental Disorders, 2019
Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors,…
Descriptors: Incidence, Predictor Variables, Anxiety, Anxiety Disorders
Creer, Sarah; Enderby, Pamela; Judge, Simon; John, Alex – International Journal of Language & Communication Disorders, 2016
Background: Commissioners and providers require information relating to the number of people requiring a service in order to ensure provision is appropriate and equitable for the population they serve. There is little epidemiological evidence available regarding the prevalence of people who could benefit from augmentative and alternative…
Descriptors: Foreign Countries, Augmentative and Alternative Communication, Incidence, Epidemiology
Yang, Mu; Lewis, Freeman C.; Sarvi, Michael S.; Foley, Gillian M.; Crawley, Jacqueline N. – Learning & Memory, 2015
Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we investigated the Dolmetsch line of 16p11.2 heterozygous (+/-) mice on a range of cognitive tasks with different neuroanatomical substrates. Robust novel object recognition deficits were replicated in two cohorts of 16p11.2…
Descriptors: Intellectual Disability, Delayed Speech, Autism, Genetics
Grant, Patrick A.; Grant, Nia A. – Advances in Special Education, 2015
The treatment and care of persons with a disability should and must be all encompassing. With the expansion of the knowledge that proper dieting can make a difference in the individual's development and quality of life, attention must be focused on using proper food intake to remediate the negative impact of a disability. Food is related to proper…
Descriptors: Dietetics, Allied Health Personnel, Special Needs Students, Students with Disabilities
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