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Communication Sciences and Disorders

FMR1 premutation

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Startle Response In Women With The Fmr1 Premutation And Risk For Anxiety Disorders, Azalfa Lateef Apr 2020

Startle Response In Women With The Fmr1 Premutation And Risk For Anxiety Disorders, Azalfa Lateef

Senior Theses

Background: The FMR1 premutation, which occurs when there is an expansion of 55 -200 repeats of the CGG trinucleotide on the FMR1 gene, is associated with an increased risk for anxiety disorders. Indices of autonomic regulation may prove to be useful biomarkers for psychopathological risk, including stress and anxiety. In the general population, diminished habituation to a startle response is linked to a variety of psychological disorders, including anxiety, yet little is known about this relationship in those with the FMR1 premutation. Given the increased risk for anxiety in those with the FMR1 premutation, the present study aims to examine …


Inhibition Deficits Are Modulated By Age And Cgg Repeat Length In Carriers Of The Fmr1 Premutation Allele Who Are Mothers Of Children With Fragile X Syndrome, Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, Marsha R. Mailick Mar 2020

Inhibition Deficits Are Modulated By Age And Cgg Repeat Length In Carriers Of The Fmr1 Premutation Allele Who Are Mothers Of Children With Fragile X Syndrome, Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, Marsha R. Mailick

Faculty Publications

Individuals who carry a premutation (PM) allele on the FMR1 gene may experience executive limitations associated with their genetic status, including inhibition deficits. However, poor understanding of individualized risk factors has limited clinical management of this group, particularly in mothers who carry the PM allele who have children with fragile X syndrome (FXS). The present study examined CGG repeat length and age as factors that may account for variable expressivity of inhibition deficits. Participants were 134 carriers of the PM allele who were mothers of children with FXS. Inhibition skills were measured using both self-report and direct behavioral assessments. Increased …