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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
Olivia Boorom; Heather Fielding-Gebhardt; Shelley Bredin-Oja; Kandace Fleming; Rebecca E. Swinburne Romine; Nancy Brady – American Journal on Intellectual and Developmental Disabilities, 2024
Individuals with fragile X syndrome (FXS) and their parents have a range of experiences navigating the crucial transition period between adolescence and adulthood. Semi structured interviews of 47 mothers of adolescents with FXS (mean child age = 15.89 years) were analyzed to identify mothers' changing expectations during the adolescent period and…
Descriptors: Adolescents, Genetic Disorders, Intellectual Disability, Congenital Impairments
Sand, Anders; Hagberg, Emilie; Lohmander, Anette – Journal of Speech, Language, and Hearing Research, 2022
Purpose: Cleft lip and/or palate (CLP) is a common birth defect, and after reconstructive surgery, about 50% of children at 5 years of age have speech deviations and are referred to speech-language therapy (SLT). The peer-reviewed evidence for the benefit of SLT has been uncertain. Our objective was to systematically review and meta-analytically…
Descriptors: Speech Therapy, Congenital Impairments, Human Body, Speech Skills
Jeremy G. Armann – ProQuest LLC, 2024
This paper investigates the educational experiences of children and adolescents diagnosed with RYR1-related diseases, a spectrum of congenital myopathies affecting muscle function. Despite these conditions typically sparing cognitive abilities, they profoundly impact physical capabilities, presenting challenges in school environments such as…
Descriptors: Children, Adolescents, Diseases, Educational Experience
Rosser, Tracie C.; Edgin, Jamie O.; Capone, George T.; Hamilton, Debra R.; Allen, Emily G.; Dooley, Kenneth J.; Anand, Payal; Strang, John F.; Armour, A. Chelsea; Frank-Crawford, Michelle A.; Moore Channell, Marie; Pierpont, Elizabeth I.; Feingold, Eleanor; Maslen, Cheryl L.; Reeves, Roger H.; Sherman, Stephanie L. – American Journal on Intellectual and Developmental Disabilities, 2018
The cause of the high degree of variability in cognition and behavior among individuals with Down syndrome (DS) is unknown. We hypothesized that birth defects requiring surgery in the first years of life (congenital heart defects and gastrointestinal defects) might affect an individual's level of function. We used data from the first 234…
Descriptors: Youth, Down Syndrome, Correlation, Congenital Impairments
Potter, Sarah Nelson; Bullard, Lauren; Banasik, Amy; Tempero Feigles, Robyn; Nguyen, Vivian; McDuffie, Andrea; Thurman, Angela John; Hagerman, Randi; Abbeduto, Leonard – Perspectives of the ASHA Special Interest Groups, 2022
Purpose: This study examined relationships among family characteristics, caregiver change in use of strategies, and child growth in spoken language over the course of a parent-implemented language intervention (PILI) that was developed to address some of the challenges associated with the fragile X syndrome (FXS) phenotype. Method: Participants…
Descriptors: Family Characteristics, Child Language, Oral Language, Intervention
Ezell, Jordan; Hogan, Abigail; Fairchild, Amanda; Hills, Kimberly; Klusek, Jessica; Abbeduto, Leonard; Roberts, Jane – Journal of Autism and Developmental Disorders, 2019
Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors,…
Descriptors: Incidence, Predictor Variables, Anxiety, Anxiety Disorders
Szubielska, Magdalena; Niestorowicz, Ewa; Marek, Boguslaw – Journal of Visual Impairment & Blindness, 2019
Introduction: The aim of this study was to determine whether individuals with congenital blindness make more recognizable drawings of known objects that are furniture sized (table, man, tree) rather than hand sized (egg, coconut, banana; Hypothesis 1). We also investigated whether knowledge that the tactile drawings had been produced by people who…
Descriptors: Geometric Concepts, Congenital Impairments, Blindness, Freehand Drawing
Brawn, Gabrielle; Porter, Melanie – International Journal of Disability, Development and Education, 2018
Literature on the level of adaptive functioning and relative strengths and weaknesses in functioning of individuals with Williams syndrome (WS) was reviewed. The electronic databases PsycINFO, PubMed, Expanded Academic, Web of Science, Scopus and ProQuest were searched electronically for relevant articles and dissertations using the search terms…
Descriptors: Literature Reviews, Adjustment (to Environment), Congenital Impairments, Genetic Disorders
Campbell, L. E.; McCabe, K. L.; Melville, J. L.; Strutt, P. A.; Schall, U. – Journal of Intellectual Disability Research, 2015
Background: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship…
Descriptors: Social Cognition, Executive Function, Interpersonal Competence, Adolescents
McMicken, Betty; Vento-Wilson, Margaret; Von Berg, Shelley; Iskarous, Khalil; Kim, Namhee; Rogers, Kelly; Young, Sonja – Communication Disorders Quarterly, 2014
This article is the second in a series that examines the intelligibility of a person with congenital aglossia (PWCA). Specific factors examined in this study included (a) intelligibility for meaningful words versus nonsense words, (b) intelligibility for consonant-vowel-consonant words (CVCs) as a function of phonemic segment types, and (c)…
Descriptors: Congenital Impairments, Semantics, Phonemes, Vowels
Tatar, Yasar – International Journal of Special Education, 2018
Adapted fitness tests and tests for children without disabilities are used for evaluating the effects of physical training programs of children with disabilities. This study investigated the applicability of those frequently-used tests for children with different types of disability. A total of 282 children ages between 5 and 14 years with…
Descriptors: Standardized Tests, Physical Fitness, Disabilities, Physical Disabilities
Klusek, Jessica; McGrath, Sara E.; Abbeduto, Leonard; Roberts, Jane E. – Journal of Speech, Language, and Hearing Research, 2016
Purpose: Pragmatic language difficulties have been documented as part of the FMR1 premutation phenotype, yet the interplay between these features in mothers and the language outcomes of their children with fragile X syndrome is unknown. This study aimed to determine whether pragmatic language difficulties in mothers with the "FMR1"…
Descriptors: Mothers, Mental Disorders, Congenital Impairments, Language Impairments
McMicken, Betty; Vento-Wilson, Margaret; Von Berg, Shelley; Rogers, Kelly – Communication Disorders Quarterly, 2014
This research examined cineradiographic films (CRF) of articulatory movements in a person with congenital aglossia (PWCA) during speech production of four phrases. Pearson correlations and a multiple regression model investigated co-variation of independent variables, positions of mandible and hyoid; and pseudo-tongue-dependent variables,…
Descriptors: Articulation (Speech), Physical Disabilities, Congenital Impairments, Motion
Libertus, Melissa E.; Feigenson, Lisa; Halberda, Justin; Landau, Barbara – Developmental Science, 2014
All numerate humans have access to two systems of number representation: an exact system that is argued to be based on language and that supports formal mathematics, and an Approximate Number System (ANS) that is present at birth and appears independent of language. Here we examine the interaction between these two systems by comparing the…
Descriptors: Congenital Impairments, Genetic Disorders, Mental Retardation, Number Systems