Fragile X syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History and Symptoms
Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testicles in men (macroorchidism), and low muscle tone. Speech may include cluttered speech or nervous speech[1]. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism.
Most females experience symptoms to a lesser degree because of their second X-chromosome, however they can develop just as severe symptoms. In females, full-mutation but not premutation carriers have abnormal neuropsychological profiles including schizophrenia spectrum disorders.[2] The symptoms of full mutation females runs the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males.
References
- ↑ http://www.wrongdiagnosis.com/f/fragile_x_syndrome/signs.htm
- ↑ Franke P, Leboyer M, Hardt J, Sohne E, Weiffenbach O, Biancalana V; et al. (1999). "Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females". Psychiatry Res. 87 (2–3): 223–31. PMID 10579555.