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Direct linkBennett Murphy, Laura; Thornton, Jane; Thornton, Emma – Journal of Intellectual & Developmental Disability, 2023
Background: Siblings of children with Prader-Willi syndrome (PWS) may be at elevated risk for poor psychological adjustment (Mazaheri, M. M., Rae-Seebach, R. D., Preston, H. E., Schmidt, M., Kountz-Edwards, S., Field, N., Cassidy, S., Packman, Wet al. (2013). The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and…
Descriptors: Siblings, Genetic Disorders, Disabilities, Children
Dimitropoulos, Anastasia; Zyga, Olena; Russ, Sandra W. – Journal of Autism and Developmental Disorders, 2019
Children with Prader-Willi syndrome (PWS) and autism spectrum disorder (ASD) present with challenges in social cognitive ability, Research comparing PWS to ASD is important given the implication of 15q11-q13 region in the biology of autism. However, recent findings question the accuracy of relying solely on parent report in behavioral…
Descriptors: Genetic Disorders, Autism, Pervasive Developmental Disorders, Social Cognition
Bell, L.; Wittkowski, A.; Hare, D. J. – Journal of Autism and Developmental Disorders, 2019
Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16…
Descriptors: Autism, Human Body, Neurological Impairments, Genetic Disorders
Haghighatfard, Arvin; Yaghoubi asl, Elham; Bahadori, Rosita Azar; Aliabadian, Rojina; Farhadi, Mahdi; Mohammadpour, Fatemeh; Tabrizi, Zeinab – Autism & Developmental Language Impairments, 2022
Background and aims: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The…
Descriptors: Autism Spectrum Disorders, Executive Function, Genetic Disorders, Genetics
Mackay, Jessica; Nixon, Gillian M.; Lafferty, Antony R.; Ambler, Geoff; Kapur, Nitin; Bergman, Philip B.; Schofield, Cara; Seton, Chris; Tai, Andrew; Tham, Elaine; Vora, Komal; Crock, Patricia; Verge, Charles; Musthaffa, Yassmin; Blecher, Greg; Caudri, Daan; Leonard, Helen; Jacoby, Peter; Wilson, Andrew; Choong, Catherine S.; Downs, Jenny – Journal of Autism and Developmental Disorders, 2022
Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS…
Descriptors: Caregivers, Genetic Disorders, Intellectual Disability, Developmental Disabilities
Hellquist, Anna; Tammimies, Kristiina – Autism: The International Journal of Research and Practice, 2022
Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden…
Descriptors: Foreign Countries, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Loo, Joanne C. Y.; Boot, Erik; Corral, Maria; Bassett, Anne S. – Journal of Applied Research in Intellectual Disabilities, 2020
Background: Many individuals with intellectual disabilities and their caregivers struggle to provide accurate and complete information to healthcare providers. Method: The present authors provided personal medical information cards (PMICs) containing contact and medical information to 52 Canadian adults with 22q11.2 deletion syndrome, a genetic…
Descriptors: Adults, Congenital Impairments, Genetic Disorders, Intellectual Disability
Schultz, Maria N.; Crawley, Jacqueline N. – Learning & Memory, 2020
Angelman syndrome is a rare neurodevelopmental disorder caused by a mutation in the maternal allele of the gene "Ube3a." The primary symptoms of Angelman syndrome are severe cognitive deficits, impaired motor functions, and speech disabilities. Analogous phenotypes have been detected in young adult "Ube3a" mice. Here, we…
Descriptors: Neurological Impairments, Genetics, Genetic Disorders, Symptoms (Individual Disorders)
Waito, Ashley A.; Plowman, Emily K.; Barbon, Carly E. A.; Peladeau-Pigeon, Melanie; Tabor-Gray, Lauren; Magennis, Kelby; Robison, Raele; Steele, Catriona M. – Journal of Speech, Language, and Hearing Research, 2020
Purpose: To date, research characterizing swallowing changes in individuals with amyotrophic lateral sclerosis (ALS) has primarily relied on subjective descriptions. Thus, the degree to which swallowing physiology is altered in ALS, and relationships between such alterations and swallow safety and/or efficiency are not well characterized. This…
Descriptors: Human Body, Genetic Disorders, Physiology, Psychomotor Skills
Ethridge, Lauren; Thaliath, Andrew; Kraff, Jeremy; Nijhawan, Karan; Berry-Kravis, Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2020
Auditory processing abnormalities in fragile X syndrome (FXS) may contribute to difficulties with language development, pattern identification, and contextual updating. Participants with FXS (N = 41) and controls (N = 27) underwent auditory event-related potentials during presentation of an oddball paradigm. Data was adequate for analysis for 33…
Descriptors: Auditory Perception, Cognitive Processes, Neurological Impairments, Genetic Disorders
Perreault, Melanie; Haibach-Beach, Pamela; Lieberman, Lauren; Foster, Elizabeth – Journal of Visual Impairment & Blindness, 2020
Introduction: Children with CHARGE syndrome often show delays in balance and motor skills due to multisensory impairments. Research also suggests that children with CHARGE syndrome have fewer opportunities to engage in physical activity. However, little research has examined the relationship among all of these variables. Thus, the purpose of this…
Descriptors: Psychomotor Skills, Genetic Disorders, Children, Adolescents
Cook, Ian A.; Wilson, Andrew C.; Peters, Jurriaan M.; Goyal, Monisha N.; Bebin, E. Martina; Northrup, Hope; Krueger, Darcy; Leuchter, Andrew F.; Sahin, Mustafa – Journal of Autism and Developmental Disorders, 2020
Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic…
Descriptors: Diagnostic Tests, Sleep, Autism, Pervasive Developmental Disorders
Fielding-Gebhardt, Heather; Warren, Steven F.; Brady, Nancy C. – Journal of Autism and Developmental Disorders, 2020
Parenting children with neurodevelopmental disabilities is often challenging. Biological mothers of children with Fragile X Syndrome (FXS) may be susceptible to increased risk of mental health problems. This study examined the longitudinal relationships between maternal mental health, child challenging behaviors, and mother-child relationship…
Descriptors: Mothers, Mental Health, Child Behavior, Behavior Problems
Srivastava, Siddharth; Clark, Bennett; Landy-Schmitt, Colleen; Offermann, Elizabeth A.; Kline, Antonie D.; Wilkinson, Samuel T.; Grados, Marco A. – Journal of Autism and Developmental Disorders, 2021
Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children…
Descriptors: Behavior Problems, Self Destructive Behavior, Genetic Disorders, Intellectual Disability
Elsom, Sandra; Hansen, Angela – Australasian Journal of Special and Inclusive Education, 2021
Tourette syndrome (TS) is a challenging and poorly understood condition that can have a considerable negative effect on an individual's ability to learn, despite there being little to no impact on their intelligence. In this paper, we detail the experiences of 2 higher education staff who supported a student with severe TS to undertake studies in…
Descriptors: Genetic Disorders, Neurological Impairments, Students with Disabilities, College Faculty
