A developmental approach to understanding fragile X syndrome in females

Cynthia S. Keysor, Michèle M.M. Mazzocco

Research output: Contribution to journalReview articlepeer-review

63 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)179-186
Number of pages8
JournalMicroscopy Research and Technique
Issue number3
StatePublished - May 1 2002
Externally publishedYes


  • Cognitive functioning
  • Psychological phenotype
  • Socio-emotional functioning

ASJC Scopus subject areas

  • Anatomy
  • Histology
  • Instrumentation
  • Medical Laboratory Technology


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