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Direct linkCarly Hyde; Logan Shurtz; Nicole McDonald; Maria Pizzano; Charles A. Nelson; Elizabeth A. Thiele; Connie Kasar; Shafali Jeste – American Journal on Intellectual and Developmental Disabilities, 2025
Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with…
Descriptors: Genetic Disorders, Neuropsychology, Clinical Diagnosis, Control Groups
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
Bouw, Nienke; Swaab, Hanna; Tartaglia, Nicole; Cordeiro, Lisa; van Rijn, Sophie – Journal of Autism and Developmental Disorders, 2023
Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT…
Descriptors: Young Children, Control Groups, Genetic Disorders, Social Behavior
Kollara, Lakshmi; Schenck, Graham; Jaskolka, Michael; Perry, Jamie L. – Journal of Speech, Language, and Hearing Research, 2017
Purpose: To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a…
Descriptors: Children, Speech Impairments, Genetic Disorders, Case Studies
Hamsho, N.; Antshel, K. M.; Eckert, T. L.; Kates, W. R. – Journal of Intellectual Disability Research, 2017
Background: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that…
Descriptors: Intellectual Disability, Genetic Disorders, Predictor Variables, Late Adolescents
Weisman, O.; Feldman, R.; Burg-Malki, M.; Keren, M.; Geva, R.; Diesendruck, G.; Gothelf, D. – Journal of Intellectual Disability Research, 2017
Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods: Eighty-two children participated…
Descriptors: Comparative Analysis, Intellectual Disability, Intelligence Tests, Interpersonal Competence
Sjögreen, Lotta; Mårtensson, Åsa; Ekström, Anne-Berit – International Journal of Language & Communication Disorders, 2018
Background: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). Aims: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound…
Descriptors: Diseases, Muscular Strength, Speech Impairments, Video Technology
