Dissertations, Theses, and Capstone Projects

Date of Degree

9-2024

Document Type

Dissertation

Degree Name

Ph.D.

Program

Psychology

Advisor

Veronica J. Hinton

Committee Members

Deborah J. Walder

Emily Jones

Emily G. Allen

Jessica Ezzell Hunter

Subject Categories

Clinical Psychology

Keywords

Fragile X Premutation, Fragile X Syndrome, Autistic Traits, Autism Spectrum Disorder, Psychiatric Symptoms

Abstract

Throughout the lifespan, approximately 14% of males and 5% of females with a fragile X premutation (PM) (defined as 55-200 CGG repeats on the X-linked FMR1 gene) are diagnosed with Autism Spectrum Disorder (ASD). For individuals that do not meet diagnostic criteria for ASD, autistic traits (ATs) are often present in this population and have been shown to have a subtle and sub-clinical presentation of social communication and interaction deficits. While less is known about the phenotype of children with a PM, studies have found increased rates of ASD and ATs in adults with a PM allele compared to controls. Psychiatric disorders, such as anxiety, depression, and attention/deficit-hyperactivity disorder have also been shown to be elevated in this population throughout the lifespan, although rates may be skewed due to potential ascertainment bias and/or secondary to other PM-related outcomes such as having a child with fragile X syndrome. The current study was designed to examine the neurodevelopmental profile of individuals with a PM from a developmental perspective, with a focus on the relationship between ATs and psychiatric disorders. Following the review, a study was conducted to evaluate ATs and psychiatric disorders in a large sample of non-referred children with a PM.

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