All ETDs from UAB

Advisory Committee Chair

Sarah E O'Kelley

Advisory Committee Members

Fred J Biasini

Martina Bebin

Document Type

Thesis

Date of Award

2019

Degree Name by School

Master of Arts (MA) College of Arts and Sciences

Abstract

Genetic disorders are ideal populations through which to study the development of Autism Spectrum Disorder (ASD; Moss, Richards, Nelson & Oliver, 2012). Tuberous Sclerosis Complex (TSC) is a particularly compelling population due to the high prevalence of ASD and prenatal diagnostic ability (Jeste, Wu, Senturk, Varcin, McCarthy, Shimzu, ScM, Vogel-Farley, Sahin & Nelson, 2014; McDonald, Varcin, Bhatt, Wu, Sahin, Nelson & Jeste, 2017; Sundberg & Sahin, 2015). However, findings related to the two core symptom domains of ASD within TSC are mixed, with little research examining restricted repetitive behaviors (RRBs). The current study aimed to define the presence and profile of RRBs in individuals with TSC and ASD. Participants included 196 children and adolescents from the TSC Autism Center for Excellence Network (TACERN, n=111) and Rare Disease Clinical Research Network (RDCRN, n=85) longitudinal studies. Participants in the two studies differed in age, gender, and measures of functioning (p’s<.05), leading to separate analyses being conducted. Participants attended up to 7 visits over three years which included neuropsychological and ASD-specific testing once per year. Cognitive ability was measured via the Stanford-Binet-Fifth Edition and Mullen Scales of Early Learning, adaptive ability via the Vineland Adaptive Behavior Scales-Second Edition, and RRBs via the Autism Diagnostic Interview-Revised (ADI-R), as well as the Repetitive Behavior Scale-Revised (RBS-R) for RDCRN. Participants were split into two groups based on their clinical diagnosis (ASD; non-ASD) The ASD group in both studies showed greater amounts and severity of RRBs, with differential patterns of significance at the item level. Older and more impaired participants with ASD showed greater amounts of all RRBs except compulsions/rituals, while younger and less impaired participants with ASD only showed elevated levels of repetitive use of objects, unusual sensory interest, and hand/finger mannerisms. Results of the current study outline the importance of continued work regarding the profile of RRBs to inform the development of screening tools to identify children at risk for ASD within the TSC population at an earlier age.

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