Emily Szabo

Date of Award

Summer 2021

Document Type

Open Access Thesis

First Advisor

Jessica Klusek


Women who carry a premutation allele on the FMR1 gene can experience limitations due to their genetic status, including executive function deficits. These subtle deficits are often shared by women who possess the broad autism phenotype (BAP). Poor understanding and limited research on the extent of these executive functioning deficits has led to limited clinical management of these two groups. The current study aimed to clarity whether there is a difference in verbal fluency abilities in mothers that possess the FMR1 premutation, mothers of children with autism who are at risk for the BAP, and mothers of typically developing children, and whether this difference changes when accounting for age and the time course of word generation. Participants were 44 mothers with the FMR1 premutation, 25 mothers of children with autism spectrum disorder, and 25 control mothers of neurotypical children. Verbal fluency skills were measured via a traditional phonemic (F-A-S) and semantic (animals) word generation task, which were coded for words generated, clusters, switches, and repetitions. Results indicated that both experimental groups (BAP and FMR1 premutation) showed an increased number of word repetitions as compared to controls for the phonemic and semantic fluency tasks. In addition, the BAP group was observed to produce fewer words and fewer semantic switches than the control group. The BAP group also demonstrated age effects that were not seen in the other groups. Based on the results of this study, the BAP is associated with verbal fluency differences that may be associated with negative consequences, particularly in older age, and additional research on the clinical impact of these features is warranted. Additionally, both the BAP and FMR1 premutation group showed increased repetitions which may indicate poor self-monitoring skills and/or working memory difficulties.

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