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Direct linkBaptista, Joana; Sampaio, Adriana; Fachada, Inês; Osório, Ana; Mesquita, Ana R.; Garayzabal, Elena; Duque, Frederico; Oliveira, Guiomar; Soares, Isabel – Journal of Autism and Developmental Disorders, 2019
This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes--Williams syndrome (WS) and autism spectrum disorder (ASD)--and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included…
Descriptors: Mothers, Mother Attitudes, Child Rearing, Preschool Children
Farran, E. K.; Formby, S.; Daniyal, F.; Holmes, T.; Van Herwegen, J. – Journal of Intellectual Disability Research, 2016
Background: Successful navigation is crucial to everyday life. Individuals with Williams syndrome (WS) have impaired spatial abilities. This includes a deficit in spatial navigation abilities such as learning the route from A to B. To-date, to determine whether participants attend to landmarks when learning a route, landmark recall tasks have been…
Descriptors: Genetic Disorders, Intellectual Disability, Spatial Ability, Navigation
Raspa, Melissa; Bann, Carla M.; Gwaltney, Angela; Benke, Timothy A.; Fu, Cary; Glaze, Daniel G.; Haas, Richard; Heydemann, Peter; Jones, Mary; Kaufmann, Walter E.; Lieberman, David; Marsh, Eric; Peters, Sarika; Ryther, Robin; Standridge, Shannon; Skinner, Steven A.; Percy, Alan K.; Neul, Jeffrey L. – American Journal on Intellectual and Developmental Disabilities, 2020
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data from a natural history study (n = 1,075), we examined the factor structure, internal consistency,…
Descriptors: Genetic Disorders, Psychometrics, Psychomotor Skills, Physical Disabilities
Martens, Marga A. W.; Janssen, Marleen J.; Ruijssenaars, Wied A. J. J. M.; Huisman, Mark; Riksen-Walraven, J. Marianne – Journal of Applied Research in Intellectual Disabilities, 2017
Background: Recent studies have shown that it is possible to foster affective involvement between people with congenital deafblindness and their communication partners. Affective involvement is crucial for well-being, and it is important to know whether it can also be fostered with people who have congenital deafblindness and intellectual…
Descriptors: Disabilities, Deaf Blind, Affective Behavior, Interpersonal Communication
Dimitropoulos, Anastasia; Zyga, Olena; Russ, Sandra – Journal of Autism and Developmental Disorders, 2017
Here we report the feasibility and acceptability of telehealth for direct intervention in children with Prader-Willi syndrome (PWS). Children with PWS have social-cognitive challenges that are similar to children with ASD. However, developing behavioral interventions for individuals with PWS is faced with the significant challenge of enrolling…
Descriptors: Genetic Disorders, Intervention, Telecommunications, Behavior Problems
Al-Mamari, Watfa; Al-Saegh, Abeer; Al-Kindy, Adila; Bruwer, Zandre; Al-Murshedi, Fathiya; Al-Thihli, Khalid – Journal of Autism and Developmental Disorders, 2015
Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients…
Descriptors: Autism, Pervasive Developmental Disorders, Children, Genetic Disorders
DaWalt, Leann Smith; Usher, Lauren V.; Greenberg, Jan S.; Mailick, Marsha R. – Autism: The International Journal of Research and Practice, 2019
Friendships and social participation are key domains of quality of life for individuals with intellectual disabilities. This study examined the friendships, social and recreational activities, and family social networks of individuals with intellectual disabilities from two distinct diagnostic groups: individuals diagnosed with fragile X syndrome…
Descriptors: Friendship, Quality of Life, Adolescents, Adults
Rafter, Mary; Gillies, Robyn M. – International Journal of Disability, Development and Education, 2018
Recent developments in genomic-based knowledge is challenging educators to learn more about the early precursors of various difficulties children experience in learning and how they can use this information to identify preventative strategies or strategies that minimise their effect. The purpose of this article is to provide a brief outline of…
Descriptors: Genetics, Teaching Methods, Genetic Disorders, Special Needs Students
Kolacz, Jacek; Raspa, Melissa; Heilman, Keri J.; Porges, Stephen W. – Journal of Autism and Developmental Disorders, 2018
Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center…
Descriptors: Genetic Disorders, Congenital Impairments, Intellectual Disability, Sensory Experience
Zyga, Olena; Russ, Sandra W.; Dimitropoulos, Anastasia – American Journal on Intellectual and Developmental Disabilities, 2018
Research has shown that children with Prader-Willi syndrome (PWS) have social-cognitive challenges and decreased quality parent-child interactions. However, given the low prevalence rate, developing interventions for children with PWS is faced with the significant challenge of enrolling enough participants for local studies. To better understand…
Descriptors: Genetic Disorders, Intellectual Disability, Interpersonal Competence, Parent Child Relationship
Sterling, Audra – Journal of Speech, Language, and Hearing Research, 2018
Purpose: Some boys with autism spectrum disorder (ASD) and boys with fragile X syndrome and a codiagnosis of ASD (FXS+ASD) have impairments in expressive grammatical abilities. The current study compared grammatical performance in these 2 groups of school-age boys. Method: Thirty-seven boys similar on mean length of utterance participated in the…
Descriptors: Males, Autism, Pervasive Developmental Disorders, Genetic Disorders
Van Eynde, Charlotte; Swillen, Ann; Lambeens, Elien; Verhaert, Nicolas; Desloovere, Christian; Luts, Heleen; Vander Poorten, Vincent; Devriendt, Koenraad; Hens, Greet – Journal of Speech, Language, and Hearing Research, 2016
Purpose: The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome. Method: Extensive audiological measurements were conducted in 40 persons with proven 22q11.2 deletion (aged 6-36 years). Besides air and bone conduction thresholds in the frequency range between 0.125…
Descriptors: Hearing Impairments, Severity (of Disability), Genetic Disorders, Audiology
Campbell-Salome, Gemme; Rauscher, Emily A.; Freytag, Jennifer – Health Education & Behavior, 2019
Family communication environments can be a facilitator or barrier to family cooperation and communication in collecting family health history (FHH) information, which can facilitate disease prevention. This study examined the direct and indirect effects of family communicative environments on whether individuals actively collected FHH information,…
Descriptors: Health Behavior, Family Characteristics, Age Differences, Gender Differences
Rubin, D. A.; Wilson, K. S.; Honea, K. E.; Castner, D. M.; McGarrah, J. G.; Rose, D. J.; Dumont-Driscoll, M. – Health Education Research, 2019
Process evaluations provide insight into the implementation of complex interventions. This study is a process evaluation for the implementation of a parent-led physical activity intervention at home with youth with a rare neurodevelopmental disorder (Prader-Willi syndrome, PWS) and youth with non-syndromal obesity (NSO). Participants included 42…
Descriptors: Physical Activities, Intervention, Neurological Impairments, Developmental Disabilities
Cochran, Lisa; Welham, Alice; Oliver, Chris; Arshad, Adam; Moss, Joanna F. – Journal of Autism and Developmental Disorders, 2019
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The…
Descriptors: Behavior Change, Followup Studies, Autism, Pervasive Developmental Disorders
