title: Language dysfluencies in females with the FMR1 premutation.
abstract: 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.
authors.affiliation: Waisman Center, University of Wisconsin-Madison, United States. asterling@waisman.wisc.edu
authors.forename: Audra M
authors.initials: AM
authors.lastname: Sterling
authors.forename: Marsha
authors.initials: M
authors.lastname: Mailick
authors.forename: Jan
authors.initials: J
authors.lastname: Greenberg
authors.forename: Steven F
authors.initials: SF
authors.lastname: Warren
authors.forename: Nancy
authors.initials: N
authors.lastname: Brady
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000375:Aging / Q000235:genetics*; D056344:Executive Function / Q000502:physiology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007802:Language; D008875:Middle Aged; D009154:Mutation; D013064:Speech Disorders / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human