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Direct linkWaite, Jane; Beck, Sarah R.; Powis, Laurie; Oliver, Chris – American Journal on Intellectual and Developmental Disabilities, 2023
In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive…
Descriptors: Executive Function, Repetition, Behavior Problems, Genetic Disorders
Templer, Alexandra K.; Titus, Jeffrey B.; Gutmann, David H. – Journal of Attention Disorders, 2013
Cognitive problems are common in children with neurofibromatosis type 1 and they can often complicate treatment. The current literature review examines cognitive functioning in neurofibromatosis type 1, with a specific focus on executive functioning. This includes exploration of how deficits in executive functioning are expressed in children with…
Descriptors: Genetic Disorders, Neurological Impairments, Cognitive Ability, Cognitive Processes
Perez-Garcia, D.; Granero, R.; Gallastegui, F.; Perez-Jurado, L. A.; Brun-Gasca, C. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
Williams-Beuren syndrome (WBS) is a genetically determined neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes on chromosome band 7q11.23. During the past few years, researchers and clinicians have significantly contributed to define the phenotype of the syndrome, including its cognitive and behavioral aspects. However, it…
Descriptors: Check Lists, Delinquency, Aggression, Mental Retardation
Rockers, K.; Ousley, O.; Sutton, T.; Schoenberg, E.; Coleman, K.; Walker, E.; Cubells, J. F. – Journal of Intellectual Disability Research, 2009
Background: Approximately one-third of individuals with 22q11.2 deletion syndrome (22q11DS), a common genetic disorder highly associated with intellectual disabilities, may develop schizophrenia, likely preceded by a mild to moderate cognitive decline. Methods: We examined adolescents and young adults with 22q11DS for the presence of executive…
Descriptors: Genetic Disorders, Mental Retardation, Schizophrenia, Psychopathology
Stevenson, Jim; Asherson, Phil; Hay, David; Levy, Florence; Swanson, Jim; Thapar, Anita; Willcutt, Erik – Developmental Science, 2005
The genetic study of ADHD has made considerable progress. Further developments in the field will be reliant in part on identifying the most appropriate phenotypes for genetic analysis. The use of both categorical and dimensional measures of symptoms related to ADHD has been productive. The use of multiple reporters is a valuable feature of the…
Descriptors: Psychopathology, Genetics, Attention Deficit Hyperactivity Disorder, Classification
Loesch, Danuta Z.; Huggins, Richard M.; Hagerman, Randi J. – Mental Retardation and Developmental Disabilities Research Reviews, 2004
Data on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene-specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly…
Descriptors: Mental Retardation, Intelligence Quotient, Short Term Memory, Foreign Countries
