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Brain Cogn. 2013 Jun;82(1):84-9. doi: 10.1016/j.bandc.2013.02.009. Epub 2013 Mar 20.

Language dysfluencies in females with the FMR1 premutation.

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Waisman Center, University of Wisconsin-Madison, United States.


Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group of 193 women with the premutation, and to contrast them with a comparison group (mothers of children with autism spectrum disorders). Our results demonstrate a linguistic profile in the female premutation carriers characterized by dysfluencies associated with deficits in organization and planning, with a clear impact of age. The comparison group, matched on both age and education level, did not demonstrate the age effect. Our results suggest dysfluencies could be an early indicator of cognitive aging in some female premutation carriers, and could be used to target early intervention.

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