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Direct linkCristan Farmer; Audrey Thurm; Tanvi Das; E. Martina Bebin; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Joseph D. Buxbaum; Charis Eng; Thomas Frazier; Antonio Y. Hardan; Alexander Kolevzon; Darcy A. Krueger; Julian A. Martinez-Agosto; Hope Northrup; Craig M. Powell; Latha Valluripalli Soorya; Joyce Y. Wu; Mustafa Sahin – American Journal on Intellectual and Developmental Disabilities, 2025
Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the interval-distributed person-ability scores that are…
Descriptors: Cognitive Tests, Intelligence Tests, Cognitive Ability, Intellectual Disability
Thomason, Molly Mishler; McCarthy, John; Goin-Kochel, Robin P.; Dowell, Lauren R.; Schaaf, Christian P.; Berry, Leandra N. – Journal of Autism and Developmental Disorders, 2020
Truncating variants of the "MAGEL2" gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)--a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS…
Descriptors: Genetic Disorders, Neurological Impairments, Developmental Disabilities, Cognitive Ability
Download full textDelaquis, Breanna – BU Journal of Graduate Studies in Education, 2020
Educators will be tasked with planning for children with many different needs. The aim of this article is to provide specific information about Rubinstein-Taybi Syndrome (RTS) to those who may be interested. This syndrome is rare and has not been well researched. This article contains information about the physical, cognitive, and developmental…
Descriptors: Genetic Disorders, Students with Disabilities, Student Needs, Individual Characteristics
Barstein, Jamie; Martin, Gary E.; Lee, Michelle; Losh, Molly – Journal of Speech, Language, and Hearing Research, 2018
Purpose: The ability to repair breakdowns in communication is an important pragmatic language skill that helps to maintain clear and meaningful interactions. Examining this ability in genetically based neurodevelopmental disabilities in which pragmatics are affected can provide important information about the precise pragmatic skills impacted…
Descriptors: Developmental Disabilities, Communication Problems, Language Skills, Pragmatics
Rossi, N. F.; Giacheti, C. M. – Journal of Intellectual Disability Research, 2017
Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…
Descriptors: Genetic Disorders, Developmental Disabilities, Correlation, Speech Skills
Waite, Jane; Beck, Sarah R.; Heald, Mary; Powis, Laurie; Oliver, Chris – Journal of Autism and Developmental Disorders, 2016
Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and…
Descriptors: Short Term Memory, Spatial Ability, Verbal Ability, Verbal Development
Chandler, Michael – Journal of Cognition and Development, 2016
The next several pages are intended as a "Commentary" on the six target articles bundled together as a Special Issue of the "Journal of Cognition and Development"--literature reviews and research reports all intended to "build bridges" between the study of cognitive development in typical and atypical populations.
Descriptors: Child Development, Attention, Cognitive Ability, Autism
Ng, Rowena; Lai, Philip; Levitin, Daniel J.; Bellugi, Ursula – Journal of Mental Health Research in Intellectual Disabilities, 2013
Williams syndrome (WS) is a neurogenetic developmental disorder characterized by peaks and valleys of cognitive abilities. One peak that has been understudied is the affinity that many individuals with WS have with music. It remains unknown whether their high levels of musical interest, skill, and expressivity are related to their sociable…
Descriptors: Genetic Disorders, Developmental Disabilities, Mental Retardation, Cognitive Ability
Palomares, Melanie; Englund, Julia A.; Ahlers, Stephanie – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
Williams Syndrome (WS) is a developmental disorder typified by deficits in visuospatial cognition. To understand the nature of this deficit, we characterized how people with WS perceive visual orientation, a fundamental ability related to object identification. We compared WS participants to typically developing children (3-6 years of age) and…
Descriptors: Mental Age, Mental Retardation, Genetic Disorders, Developmental Disabilities
Pinheiro, Ana P.; Galdo-Alvarez, Santaigo; Sampaio, Adriana; Niznikiewicz, Margaret; Goncalves, Oscar F. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2010
Williams syndrome (WS), a genetic neurodevelopmental disorder due to microdeletion in chromosome 7, has been described as a syndrome with an intriguing socio-cognitive phenotype. Cognitively, the relative preservation of language and face processing abilities coexists with severe deficits in visual-spatial tasks, as well as in tasks involving…
Descriptors: Sentences, Semantics, Language Processing, Spatial Ability
Simon, Tony J. – Developmental Disabilities Research Reviews, 2008
In this article, I present an updated account that attempts to explain, in cognitive processing and neural terms, the nonverbal intellectual impairments experienced by most children with deletions of chromosome 22q11.2. Specifically, I propose that this genetic syndrome leads to early developmental changes in the structure and function of clearly…
Descriptors: Cognitive Processes, Neurological Impairments, Children, Developmental Disabilities
Antshel, Kevin M.; Fremont, Wanda; Kates, Wendy R. – Developmental Disabilities Research Reviews, 2008
Although research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo-cardio-facial syndrome (VCFS), we know relatively little about the extent to which within-individual expressions of the cognitive phenotype remain stable throughout development. General cognitive functioning in the low…
Descriptors: Neurology, Neurological Impairments, Neurological Organization, Genetic Disorders
Annaz, Dagmara; Van Herwegen, Jo; Thomas, Michael; Fishman, Roza; Karmiloff-Smith, Annette; Rundblad, Gabriella – International Journal of Language & Communication Disorders, 2009
Background: Figurative language, such as metaphor and metonymy, is very common in daily language use. Its underlying cognitive processes are sometimes viewed as lying at the interface of language and thought. Williams syndrome, which is a rare genetic developmental disorder, provides an opportunity to study this interface because individuals with…
Descriptors: Syntax, Figurative Language, Cognitive Processes, Language Skills
Tanaka, Yoko; Kato, Motoichiro; Muramatsu, Taro; Saito, Fumie; Sato, Seiji; Matsuo, Nobutake; Shintaku, Haruo; Okano, Yoshiyuki; Kondo, Hiroshi; Nukazawa, Tatsushi – Developmental Medicine & Child Neurology, 2007
Executive function (EF) has been presumed to be mediated by the dopaminergic system in the prefrontal cortex. However, little is known about the early development of this function and the roles dopamine plays in it. Tetrahydrobiopterin (BH4) deficiencies are genetic disorders affecting catecholamine and serotonin biosynthesis which, if untreated,…
Descriptors: Genetic Disorders, Females, Intelligence Quotient, Males
