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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
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
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
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
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
Perovic, Alexandra; Modyanova, Nadya; Wexler, Ken – Language Acquisition: A Journal of Developmental Linguistics, 2013
This study investigates whether distinct neurodevelopmental disorders show distinct patterns of impairments in particular grammatical abilities and the relation of those grammatical patterns to general language delays and intellectual disabilities. We studied two disorders (autism and Williams syndrome [WS]) and two distinct properties (Principle…
Descriptors: Grammar, Autism, Language Impairments, Genetic Disorders
Hall, Scott S.; Hustyi, Kristin M.; Hammond, Jennifer L.; Hirt, Melissa; Reiss, Allan L. – Journal of Autism and Developmental Disorders, 2014
We examined whether "discrete trial training" (DTT) could be used to identify learning impairments in mathematical reasoning in boys with fragile X syndrome (FXS). Boys with FXS, aged 10-23 years, and age and IQ-matched controls, were trained to match fractions to pie-charts and pie-charts to decimals either on a computer or with a…
Descriptors: Learning Disabilities, Mathematical Logic, Males, Genetic Disorders
Download full textHaibach, Pamela S.; Lieberman, Lauren J. – Journal of Visual Impairment & Blindness, 2013
Introduction: Balance is a critical component of daily living, because it affects all movements and the ability to function independently. Children with CHARGE syndrome have sensory and motor impairments that could negatively affect their balance and postural control. The purpose of the study presented in this article was to assess the balance and…
Descriptors: Visual Impairments, Children, Control Groups, Experimental Groups
Howley, Sarah A.; Prasad, Sarah E.; Pender, Niall P.; Murphy, Kieran C. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
22q11.2 Deletion Syndrome (22q11DS) is a common microdeletion disorder associated with mild to moderate intellectual disability and specific neurocognitive deficits, particularly in visual-motor and attentional abilities. Currently there is evidence that the visual-motor profile of 22q11DS is not entirely mediated by intellectual disability and…
Descriptors: Comparative Analysis, Control Groups, Reaction Time, Mental Retardation
Antshel, K.; Hier, B.; Fremont, W.; Faraone, S. V.; Kates, W. – Journal of Intellectual Disability Research, 2014
Background: The primary objective of the current study was to examine the childhood predictors of adolescent reading comprehension in velo-cardio-facial syndrome (VCFS). Although much research has focused on mathematics skills among individuals with VCFS, no studies have examined predictors of reading comprehension. Methods: 69 late adolescents…
Descriptors: Genetic Disorders, Predictor Variables, Children, Reading Comprehension
Hung, Ya-Ching; Casertano, Lorenzo; Hillman, Andrew; Gordon, Andrew M. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
Recent studies have suggested efficacy of intensive bimanual training in improving the quality and quantity of affected hand use in children with hemiplegia. However, it is not known whether such training affects the coordination of the two hands. In the present study, 20 children with congenital hemiplegia (age 4-10 years; MACS levels I-II) were…
Descriptors: Control Groups, Perceptual Motor Coordination, Therapy, Outcomes of Treatment
Cotton, Sue M.; Richdale, Amanda L. – Research in Autism Spectrum Disorders, 2010
Sleep problems have often been reported in children with intellectual disabilities (ID). How anomalies in 24-h sleep patterns relate to behaviour difficulties in children with different types of ID remains to be elucidated. The purpose of this study was to assess 24-h sleep and behaviour patterns in children with a variety disorders including…
Descriptors: Control Groups, Autism, Developmental Disabilities, Down Syndrome
Diz, P.; Limeres, J.; Salgado, A. F. P.; Tomas, I.; Delgado, L. F.; Vazquez, E.; Feijoo, J. F. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
Determining a child's chronological age and stage of maturation is particularly important in fields such as paediatrics, orthopaedics, and orthodontics, as well as in forensic and anthropological studies. Some systemic conditions can cause abnormal physiological maturation, and skeletal maturation is usually more delayed than dental maturation.…
Descriptors: Control Groups, Age, Down Syndrome, Cerebral Palsy
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