Understanding the Language of Female FMR1 Premutation Carriers
Abstract
The genotype of Fragile X Mental retardation- 1 (FMR1) premutation carriers are well known however, studies concerning their phenotype are scarce. The premutation is the result of a trinucleotide expansion, CGG with repeats ranging from 55 to 200. Language is an important part of fragile X because it effects how the carriers communicate and causes them stress and anxiety when they are unable to communicate satisfactorily. This research focuses on understanding the effect that time pressure has on non-lexical language errors and disfluencies on female premutation carriers, thought to stem from problems from the conceptual and auditory loop in the brain. It also examines the correlation between the errors made in the different loops. The 32 women who were involved in the experiment completed a network production task. There were 16 trials set to two different speeds, fast (18 seconds) and slow (27 seconds). Non-lexical language errors from the task were coded for. The results showed time pressure produces subtle perseverative and syntactic language impairment in female FMR1 premutation carriers, but there was not a definite correlation between the language errors in this study. This work help identifies the carriers before they have their children (women typically find out they are carriers through their children) and lessen the stress and other symptoms that comes with carrying the premutation. If the language imparities in these females are well known, tasks for jobs and school could be done more efficiently by them.
Understanding the Language of Female FMR1 Premutation Carriers
Founders Hall 251 A
The genotype of Fragile X Mental retardation- 1 (FMR1) premutation carriers are well known however, studies concerning their phenotype are scarce. The premutation is the result of a trinucleotide expansion, CGG with repeats ranging from 55 to 200. Language is an important part of fragile X because it effects how the carriers communicate and causes them stress and anxiety when they are unable to communicate satisfactorily. This research focuses on understanding the effect that time pressure has on non-lexical language errors and disfluencies on female premutation carriers, thought to stem from problems from the conceptual and auditory loop in the brain. It also examines the correlation between the errors made in the different loops. The 32 women who were involved in the experiment completed a network production task. There were 16 trials set to two different speeds, fast (18 seconds) and slow (27 seconds). Non-lexical language errors from the task were coded for. The results showed time pressure produces subtle perseverative and syntactic language impairment in female FMR1 premutation carriers, but there was not a definite correlation between the language errors in this study. This work help identifies the carriers before they have their children (women typically find out they are carriers through their children) and lessen the stress and other symptoms that comes with carrying the premutation. If the language imparities in these females are well known, tasks for jobs and school could be done more efficiently by them.
