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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
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
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
Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P.; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L.; Ledbetter, David H.; Spiro, John E.; Chung, Wendy K.; Hanson, Ellen – Journal of Autism and Developmental Disorders, 2016
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2…
Descriptors: Pervasive Developmental Disorders, Developmental Disabilities, Psychiatry, Statistical Analysis
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
Fahim, C.; Yoon, U.; Nashaat, N. H.; Khalil, A. K.; El-Belbesy, M.; Mancini-Marie, A.; Evans, A. C.; Meguid, N. – Journal of Intellectual Disability Research, 2012
Background: Genetically Williams syndrome (WS) promises to provide essential insight into the pathophysiology of cortical development because its ~28 deleted genes are crucial for cortical neuronal migration and maturation. Phenotypically, WS is one of the most puzzling childhood neurodevelopmental disorders affecting most intellectual…
Descriptors: Attention Deficit Disorders, Intelligence Quotient, Genetics, Scientific Research
van Rijn, Sophie; Stockmann, Lex; Borghgraef, Martine; Bruining, Hilgo; van Ravenswaaij-Arts, Conny; Govaerts, Lutgarde; Hansson, Kerstin; Swaab, Hanna – Journal of Autism and Developmental Disorders, 2014
The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106…
Descriptors: Social Behavior, Antisocial Behavior, Autism, Pervasive Developmental Disorders
Ballinger, Elizabeth C.; Cordeiro, Lisa; Chavez, Alyssa D.; Hagerman, Randi J.; Hessl, David – Journal of Autism and Developmental Disorders, 2014
Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We…
Descriptors: Genetic Disorders, Brain Hemisphere Functions, Correlation, Antisocial Behavior
Klusek, Jessica; Hunt, Anna W.; Mirrett, Penny L.; Hatton, Deborah D.; Hooper, Stephen R.; Roberts, Jane E.; Bailey, Donald B. – Journal of Autism and Developmental Disorders, 2015
Although reading skills are critical for the success of individuals with intellectual disabilities, literacy has received little attention in fragile X syndrome (FXS). This study examined the literacy profile of FXS. Boys with FXS (n = 51; mean age 10.2 years) and mental age-matched boys with typical development (n = 35) participated in…
Descriptors: Phonological Awareness, Genetic Disorders, Reading Skills, Literacy
Shaw, Tracey A.; Porter, Melanie A. – Journal of Autism and Developmental Disorders, 2013
This study investigated emotion recognition abilities and visual scanning of emotional faces in 16 Fragile X syndrome (FXS) individuals compared to 16 chronological-age and 16 mental-age matched controls. The relationships between emotion recognition, visual scan-paths and symptoms of social anxiety, schizotypy and autism were also explored.…
Descriptors: Control Groups, Nonverbal Communication, Genetic Disorders, Emotional Response
Levy, Yonata; Eilam, Ariela – Journal of Child Language, 2013
This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…
Descriptors: Child Language, Language Acquisition, Down Syndrome, Genetic Disorders
Langthorne, Paul; McGill, Peter – Journal of Autism and Developmental Disorders, 2012
Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups. Using the Questions About Behavioral Function scale Matson and Vollmer (User's guide: questions about behavioral function…
Descriptors: Control Groups, Behavior Problems, Mental Retardation, Developmental Disabilities
