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Direct linkAjmone, Paola Francesca; Allegri, Beatrice; Cereda, Anna; Michelini, Giovanni; Dall'Ara, Francesca; Mariani, Milena; Rigamonti, Claudia; Selicorni, Angelo; Vizziello, Paola; Costantino, Maria Antonella – Journal of Autism and Developmental Disorders, 2022
Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently, we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Intelligence Quotient, Adjustment (to Environment)
Shotwell, Mark – American Biology Teacher, 2021
Pedigree analysis has long been an essential tool in human genetics as well as a staple of genetics education. Students of genetics might be surprised to learn that human pedigrees were first popularized in the United States by proponents of eugenics, the pseudoscientific social movement aimed at improving the genetic quality of the human race.…
Descriptors: Genetics, Genetic Disorders, Social Problems, Science Activities
Ana Alejandra Espinosa-Mojica; Carmen Varo Varo – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Language studies on populations with rare genetic disorders are limited. Hence, there is little data on commonly found or expected developmental linguistic traits and cognitive mechanisms that may be impaired. Based on the hypothesis that there is a close connection between language and cognition and the relevance of specific genetic…
Descriptors: Genetic Disorders, Child Development, Children, Language Skills
Elizabeth A. Will; Kimberly J. Hills; Kayla Smith; Samuel McQuillin; Jane E. Roberts – Autism: The International Journal of Research and Practice, 2024
Fragile X syndrome (FXS), the leading heritable cause of intellectual disability, has a co-occurrence rate of autism spectrum disorder (ASD) estimated at ~60%. The onset and rates of motor development in FXS are slower relative to neurotypical development, and even more so in the context of co-occurring FXS + ASD. Extant evidence suggests these…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Comorbidity, Psychomotor Skills
Cristan Farmer; Audrey Thurm; Tanvi Das; E. Martina Bebin; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Joseph D. Buxbaum; Charis Eng; Thomas Frazier; Antonio Y. Hardan; Alexander Kolevzon; Darcy A. Krueger; Julian A. Martinez-Agosto; Hope Northrup; Craig M. Powell; Latha Valluripalli Soorya; Joyce Y. Wu; Mustafa Sahin – American Journal on Intellectual and Developmental Disabilities, 2025
Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the interval-distributed person-ability scores that are…
Descriptors: Cognitive Tests, Intelligence Tests, Cognitive Ability, Intellectual Disability
Latha 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
Baker, Emma K.; Arora, Sheena; Amor, David J.; Date, Perrin; Cross, Meagan; O'Brien, James; Simons, Chloe; Rogers, Carolyn; Goodall, Stephen; Slee, Jennie; Cahir, Chris; Godler, David E. – Journal of Autism and Developmental Disorders, 2023
The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt…
Descriptors: Costs, Child Rearing, Genetic Disorders, Severity (of Disability)
Lisa R. Hamrick; Amanda Seidl; Bridgette L. Kelleher – American Journal on Intellectual and Developmental Disabilities, 2023
Automated methods for processing of daylong audio recordings are efficient and may be an effective way of assessing developmental stage for typically developing children; however, their utility for children with developmental disabilities may be limited by constraints of algorithms and the scope of variables produced. Here, we present a novel…
Descriptors: Genetic Disorders, Developmental Disabilities, Child Development, Verbal Communication
Iris Selten; Tessel Boerma; Emma Everaert; Ellen Gerrits; Michiel Houben; Frank Wijnen; Jacob Vorstman – Autism & Developmental Language Impairments, 2023
Background and Aim: Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this…
Descriptors: Autism Spectrum Disorders, Language Impairments, Genetic Disorders, Young Children
Huston, John C.; Thom, Robyn P.; Ravichandran, Caitlin T.; Mullett, Jennifer E.; Moran, Carly; Waxler, Jessica L.; Pober, Barbara R.; McDougle, Christopher J. – Journal of Autism and Developmental Disorders, 2022
The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) or Children's Y-BOCS, the Yale Global Tic Severity Scale, the Stereotyped Behavior Scale, and the Spence Children's Anxiety Scale--Parent Version. Nineteen…
Descriptors: Genetic Disorders, Intellectual Disability, Congenital Impairments, Repetition
Du, Xiaoli; Glass, Jennifer Elaine; Balow, Stephanie; Dyer, Lisa M.; Rathbun, Pamela A.; Guan, Qiaoning; Liu, Jie; Wu, Yaning; Dawson, D. Brian; Walters-Sen, Lauren; Smolarek, Teresa A.; Zhang, Wenying – Journal of Autism and Developmental Disorders, 2022
Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely…
Descriptors: Test Construction, Genetic Disorders, Patients, Diagnostic Tests
Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
Michael R. Capawana; Pieter J. Vuijk; Joanna Martin; Alisha R. Pollastri; Gina A. Forchelli; Georgia G. Woscoboinik; Sonia L. Tremblay; Lauren E. Wolfe; Ellen B. Braaten; Alysa E. Doyle – Journal of Attention Disorders, 2024
Objective: We leveraged common genetic variation underlying ADHD, educational attainment (EA) and cognition (COG) to understand the nature of the Behavior Rating Inventory for Executive Functions (BRIEF) and its relationship to academic functioning. Method: Participants were 991 youth, ages 7 to 17, consecutively referred for neuropsychiatric…
Descriptors: Attention Deficit Hyperactivity Disorder, Executive Function, Child Behavior, Genetics
Chantelle Highman; Megan Overby; Suze Leitão; Claudia Abbiati; Shelley Velleman – Journal of Speech, Language, and Hearing Research, 2024
Purpose: The purpose of this tutorial is to (a) provide an updated review of the literature pertaining to proposed early features of childhood apraxia of speech (CAS), (b) discuss the findings of recent treatment studies of infants and toddlers with suspected CAS (sCAS), and (c) present evidence-based strategies and tools that can be used for the…
Descriptors: Speech Impairments, Infants, Toddlers, Intervention
Zequn Zheng; Dihui Cai – Journal of Attention Disorders, 2025
Background: While observational studies have established a connection between attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and heightened risk for cardiovascular diseases (CVD), the causal relationships are not well-defined. This study is designed to examine the causality between ASD, ADHD, and CVD risk as well…
Descriptors: Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorders, Heart Disorders, Correlation
