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ERIC Number: EJ890813
Record Type: Journal
Publication Date: 2010-Aug
Pages: 8
Abstractor: As Provided
Reference Count: 0
ISSN: ISSN-0278-2626
Mapping Self-Reports of Working Memory Deficits to Executive Dysfunction in Fragile X Mental Retardation 1 ("FMR1") Gene Premutation Carriers Asymptomatic for FXTAS
Kogan, Cary S.; Cornish, Kim M.
Brain and Cognition, v73 n3 p236-243 Aug 2010
Fragile X Syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation 1 ("FMR1") gene. In recent years, the premutation ("carrier") status has received considerable attention and there is now an emerging consensus that despite intellectual functioning being within the average range premutation males present with subtle executive function impairments that include poor inhibitory control, working memory deficits, and poor planning skills. The ranges of these skills, although not nearly as severe as seen in the full mutation, nonetheless serve to differentiate males with the premutation from males in the unaffected population. In the present study we extend these findings to suggest that behavioral markers, specifically self-report on the Brown Attention-Deficit Disorder Rating Scales, may serve as a clinically useful indicator or "signature" of the Fragile X Premutation status. We discuss the possibility that this measure provides a means to identify those at greatest risk for developing the newly identified neurodegenerative disorder that affects some premutation males--Fragile X Tremor/Ataxia Syndrome (FXTAS). (Contains 2 tables and 3 figures.)
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A