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Direct linkGiovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
Cheng-Hsien Huang; Lee-Chin Wong; Yen-Ju Chu; Chia-Jui Hsu; Hsin-Pei Wang; Wen-Che Tsai; Wang-Tso Lee – Autism: The International Journal of Research and Practice, 2024
Sleep problems are prevalent among individuals with Rett syndrome. We aimed to investigate sleep problems in individuals with Rett syndrome and their caregivers. A total of 29 participants diagnosed with Rett syndrome and their respective 29 caregivers were included. The Children Sleep Habits Questionnaire (CSHQ), the Pittsburgh Sleep Quality…
Descriptors: Sleep, Genetic Disorders, Neurological Impairments, Caregivers
Keary, Christopher J.; Mullett, Jennifer E.; Nowinski, Lisa; Wagner, Karyn; Walsh, Briana; Saro, Hannah K.; Erhabor, Gillian; Thibert, Ronald L.; McDougle, Christopher J.; Ravichandran, Caitlin T. – Journal of Autism and Developmental Disorders, 2022
Anxiety is being increasingly identified in Angelman syndrome (AS). Qualitative questions and quantitative assessments were used to evaluate for anxiety in 50 subjects with AS. In-person evaluations assessed behaviors concerning for anxiety and circumstances wherein they occurred. Caregivers completed anxiety and other behavioral rating scales.…
Descriptors: Anxiety, Genetic Disorders, Neurological Impairments, Caregivers
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
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
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
Katayoun Ghanai; Rebecca E. Barnstaple; Joseph F.X. DeSouza – Research in Dance Education, 2024
Loss of social supports and community programs due to lockdowns and other measures associated with COVID-19 has been linked to concerns over mental health and feelings of isolation. These challenges can be particularly acute for the elderly and people living with chronic or pervasive health conditions. "Dance for PD," a program…
Descriptors: Dance, Genetic Disorders, COVID-19, Pandemics
Daniel A. Geller; Mia Grossman – Journal of Attention Disorders, 2024
Objective: To use a family genetic study to evaluate familial risk of obsessive compulsive disorder (OCD) and common comorbid illnesses in first-degree relatives of pediatric-onset probands with primary OCD. Method: One hundred and thirty youth with OCD and their 133 siblings and 241 parents and 49 pediatric controls were directly evaluated along…
Descriptors: Heredity, Anxiety Disorders, Comorbidity, Child Health
Rebecca L. Kolb; Jennifer J. McComas; Shawn N. Girtler; Jessica Simacek; Adele F. Dimian; Emily K. Unholz-Bowden; Alefyah H. Shipchandler – Journal of Developmental and Physical Disabilities, 2023
Rett syndrome is a severe neurodevelopmental disorder that results in both motor and language skill regression with a wide range of severity in symptom presentation. Communication intervention may be particularly challenging for this population due to the decline in speech, motor skills, and motor planning difficulties that characterize the…
Descriptors: Neurological Impairments, Genetic Disorders, Females, Augmentative and Alternative Communication
Gomathi, Mohan; Padmapriya, Subramanian; Balachandar, Vellingiri – Journal of Autism and Developmental Disorders, 2020
Drug studies on Rett syndrome (RTT) have drastically increased over the past few decades. This review aims to provide master data on bench-to-bedside drug studies involving RTT. A comprehensive literature review was performed by searching in PUBMED, MEDLINE and Google Scholar, international, national and regional clinical trial registries and…
Descriptors: Genetic Disorders, Neurological Impairments, Drug Therapy, Symptoms (Individual Disorders)
Hettiarachchi, D.; Neththikumara, N. F.; Pathirana, B. A. P. S.; Dissanayake, V. H. W. – Journal of Autism and Developmental Disorders, 2020
Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 ("MECP2") of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in…
Descriptors: Foreign Countries, Genetic Disorders, Females, Neurological Impairments
Grebe, Stacey C.; Limon, Danica L.; McNeel, Morgan M.; Guzick, Andrew; Peters, Sarika U.; Tan, Wen-Hann; Sadhwani, Anjali; Bacino, Carlos A.; Bird, Lynne M.; Samaco, Rodney C.; Berry, Leandra N.; Goodman, Wayne K.; Schneider, Sophie C.; Storch, Eric A. – American Journal on Intellectual and Developmental Disabilities, 2022
Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal "UBE3A" gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population. Studies of anxiety in other…
Descriptors: Neurological Impairments, Genetic Disorders, Anxiety, Symptoms (Individual Disorders)
Duis, Jessica – American Journal on Intellectual and Developmental Disabilities, 2022
Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental…
Descriptors: Neurological Impairments, Genetic Disorders, Expressive Language, Delayed Speech
Chevalère, J.; Camblats, A. -M.; Laurier, V.; Tauber, M.; Thuilleaux, D.; Postal, V. – Journal of Intellectual & Developmental Disability, 2022
Background: The present study investigated decision-making in patients with Prader-Willi syndrome (PWS) using the Soochow Gambling Task (SGT). The objective was to assess whether adults with PWS have impaired hot executive functions and whether the deficit is specific to PWS or linked to intellectual disabilities. Method: The SGT performance of 26…
Descriptors: Genetic Disorders, Decision Making, Adults, Executive Function
