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A developmental approach to understanding Fragile X syndrome in females
Author(s) -
Keysor Cynthia S.,
Mazzocco Michèle M.M.
Publication year - 2002
Publication title -
microscopy research and technique
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 118
eISSN - 1097-0029
pISSN - 1059-910X
DOI - 10.1002/jemt.10070
Subject(s) - psychology , developmental psychology , fragile x syndrome , frax , neuropsychology , cognition , anxiety , socioemotional selectivity theory , cognitive skill , clinical psychology , intellectual disability , psychiatry , medicine , bone mineral , osteoporosis , osteoporotic fracture , endocrinology
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. Microsc. Res. Tech. 57:179–186, 2002. © 2002 Wiley‐Liss, Inc.