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Direct linkMaría Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Ane Perosanz; Oscar Martínez; Néstor Roselli; Paula Pérez-Núñez; Samuel Anguiano; Juan Francisco López-Paz – American Journal on Intellectual and Developmental Disabilities, 2025
The present study is a systematic review of intervention programs designed to improve the socioemotional skills of children and adolescents with Prader-Willi syndrome (PWS). The search was conducted in the Web of Science and Pubmed databases following the PRISMA guidelines. A total of six studies made up the final sample and were organized based…
Descriptors: Genetic Disorders, Intervention, Interpersonal Competence, Emotional Response
Eugene Merzon; Ariel Israel; Beth Krone; Shani Medvejer; Shira Cohen; Ilan Green; Avivit Golan-Cohen; Shlomo Vinker; Stephen V. Faraone; Jeffrey H. Newcorn; Shai Ashkenazi; Abraham Weizman; Iris Manor – Journal of Attention Disorders, 2024
Objective: There is growing evidence of involvement of inflammatory mechanisms in ADHD. Previous studies found significantly higher rates of ADHD among children with FMF. The present study examined the rate of exposure to FMF in children with a later (within a 5-year period) diagnosis of ADHD compared to non-ADHD children. Methods: A…
Descriptors: Attention Deficit Hyperactivity Disorder, Diseases, Physiology, Genetic Disorders
Mayara S. Bianchim; Melitta A. McNarry; Alan R. Barker; Craig A. Williams; Sarah Denford; Lena Thia; Rachel Evans; Kelly A. Mackintosh – Measurement in Physical Education and Exercise Science, 2024
This study aimed to develop and validate machine learning models to predict intensities in children and adolescents with cystic fibrosis (CF) across different accelerometry brands and placements. Thirty-five children and adolescents with CF (11.6 ± 2.8 yrs; 15 girls) and 28 healthy youth (12.2 ± 2.7 yrs; 16 girls) performed six activities whilst…
Descriptors: Models, Prediction, Children, Adolescents
Kleberg, Johan Lundin; Riby, Deborah; Fawcett, Christine; Björlin Avdic, Hanna; Frick, Matilda A.; Brocki, Karin C.; Högström, Jens; Serlachius, Eva; Nordgren, Ann; Willfors, Charlotte – Journal of Autism and Developmental Disorders, 2023
Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically…
Descriptors: Genetic Disorders, Eye Movements, Children, Adolescents
Sanders, Ashley F. P.; Hobbs, Diana A.; Knaus, Tracey A.; Beaton, Elliott A. – Journal of Autism and Developmental Disorders, 2023
Children with chromosome 22q11.2 deletion syndrome (22q11.2DS) exhibit impaired ability to process and understand emotions in others. We measured structural connectivity in children and adolescents with 22q11.2DS (n = 28) and healthy controls (n = 29). Compared to controls, those with 22q11.2DS had poorer social skills and more difficulty…
Descriptors: Genetic Disorders, Emotional Response, Children, Adolescents
Siddharth Srivastava; Kristina Johnson; Cristan Farmer; Tess Levy; Audrey Thurm; Latha Valluripalli Soorya; Rajna Filip-Dhima; Aisling Quinlan; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Joseph D. Buxbaum; Mustafa Sahin; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
Phelan-McDermid syndrome (PMS), caused by "SHANK3" haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed longitudinal Vineland…
Descriptors: Genetic Disorders, Children, Adolescents, Young Adults
Shelley L. Velleman; Vitor N. Guimaraes; Bonita P. Klein-Tasman; Myra J. Huffman; Angela M. Becerra; Carolyn B. Mervis – Journal of Speech, Language, and Hearing Research, 2024
Purpose: The aim of this study was to explore relations between speech sound disorder severity and selective mutism in a group of children with 7q11.23 duplication syndrome (Dup7), a genetic condition predisposing children to childhood apraxia of speech (CAS) and other speech sound disorders and to anxiety disorders, including selective mutism and…
Descriptors: Speech Impairments, Genetic Disorders, Anxiety, Children
Hamid Ahmadieh; Narsis Daftarian; Mojtaba Rajabpour; Bahareh Kheiri; Kourosh Sheibani; Amir Moradi; Hamideh Sabbaghi – Journal of Visual Impairment & Blindness, 2025
Introduction: Childhood visual impairment is a global concern. We aimed to identify the major causes of childhood visual impairment in schools for students with visual impairments in Tehran, Iran. Methods: This cross-sectional study was conducted on students attending two schools for students with visual impairments in Tehran. All students or…
Descriptors: Blindness, Visual Impairments, Students with Disabilities, Special Schools
Pobric, Gorana; Taylor, Jason R.; Ramalingam, Hemavathy M.; Pye, Emily; Robinson, Louise; Vassallo, Grace; Jung, JeYoung; Bhandary, Misty; Szumanska-Ryt, Karolina; Theodosiou, Louise; Evans, D. Gareth; Eelloo, Judith; Burkitt-Wright, Emma; Hulleman, Johan; Green, Jonathan; Garg, Shruti – Journal of Autism and Developmental Disorders, 2022
Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed…
Descriptors: Short Term Memory, Neurological Impairments, Genetic Disorders, Adolescents
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
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
Breanne J. Byiers; Alyssa M. Merbler; Chantel C. Burkitt; Frank J. Symons – American Journal on Intellectual and Developmental Disabilities, 2025
Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times…
Descriptors: Sleep, Neurodevelopmental Disorders, Psychomotor Skills, Genetic Disorders
Robert Klitzman; Ekaterina Bezborodko; Wendy K. Chung; Paul S. Appelbaum – Journal of Autism and Developmental Disorders, 2025
To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving…
Descriptors: Genetic Disorders, Screening Tests, Autism Spectrum Disorders, Neurodevelopmental Disorders
Feller, Clémence; Ilen, Laura; Eliez, Stephan; Schneider, Maude – Journal of Autism and Developmental Disorders, 2023
Social impairments are common features of 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The Ecological Momentary Assessment (EMA) allowed access to daily-life information in order to explore the phenomenology of social interactions. 32 individuals with 22q11DS, 26 individuals with ASD and 44 typically developing peers…
Descriptors: Adolescents, Young Adults, Neurodevelopmental Disorders, Autism Spectrum Disorders
