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Social functioning in male premutation carriers of Fragile X (FRAX) syndrome
Rigby, A.S., Turk, J., Mills, A.C., James, N., Hollis, C., Cornish, K., Dalton, A. & MANLY, T.
American Journal of Human Genetics, 73(5), 383The 53rd Annual Meeting of the American Society of Human Genetics
Year of publication:
Previous small studies suggest males with FRAX premutation may show a phenotype similar to full mutation males. We assess if such males show phenotypic features similar to high functioning autism/Asperger syndrome. We report a large national UK study of adult premutation carriers recruited through regional genetics centres and the British Fragile X Society. Each case was IQ and age matched to 1 familial and 1 non-familial control. To date we have recruited 42 premutation males, 14 familial and 24 non-familial controls. All completed a new self-assessment screening test, the Autism-Spectrum Quotient (ASQ) consisting of 5 subscales; social skills, attention to detail, communication, attention switching and imagination. High scores imply poor performance. Premutation males scored highest on the ASQ (mean 20.2). Non-family controls scored the lowest (15.3). Family controls were intermediate (19.3). Subscale analysis showed no significant differences between premutation males and family controls. However, both groups had significantly higher scores than non-family controls on the attention switching and communication subscales. Premutation males also had significantly higher scores than non-family controls on the imagination subscale. These findings indicate that premutation males are more impaired than the general population in terms of the total ASQ score and in particular with attention switching. However, a familial tendency cannot be excluded given the intermediate performance of the family controls. The findings are consistent with premutation FRAX males having specific developmental difficulties with social and communication skills as well as attention skills.