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| Research article summary (published 29 Apr 2002): |
A developmental approach to understanding Fragile X syndrome in females.
Full Abstract
The psychological phenotype of females with fragile X syndrome (FraX) is discussed, focusing primarily on empirical findings over the past decade and on studies of probands with the full mutation (FM). A developmental approach is used to help characterize specific patterns of cognitive, neuropsychological, social, emotional, and behavioral functioning across the lifespan of females with FraX. Approximately half of females with the syndrome present with cognitive abilities that fall in the borderline to mentally retarded range, and the remaining females with average intellectual functioning may experience relative deficits in math achievement and problems with attention and executive functioning. Reports of socio-emotional functioning are somewhat inconsistent, due in part, perhaps, to methodological differences in study design. To date, much of what we understand about the psychological phenotype of FraX is based on cross-sectional studies of girls and women with the disorder. Symptoms associated with shyness, and social anxiety and avoidance have been reported in some school-age, adolescent, and adult females with FraX. Only recently have efforts begun to identify the developmental trajectory of FraX in infants and toddlers. There is a void of information specific to these developmental periods. Identifying key deficits in cognitive and socio-emotional functioning has important implications for early detection and intervention for girls with FraX. Directions for future research are discussed.Copyright 2002 Wiley-Liss, Inc.
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Author information
Author/s: Keysor, Cynthia S (CS); Mazzocco, Michèle M M (MM);
Affiliation: Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA. mfour@home.com
Grants: P50 NS35359 (Agency:United States NINDS) ; R01 HD 34061 (Agency:United States NICHD)
Journal and publication information
Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.; Review
Journal: Microscopy research and technique (Microsc Res Tech), published in United States. (Language: eng)
Reference: 2002-May; vol 57 (issue 3) : pp 179-86
Dates: Created 2002/07/11; Completed 2002/08/06; Revised 2007/11/14;
PMID: 12112455, status: MEDLINE (last retrieval date: 11/6/2008)
Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.
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