Date of Award
Doctor of Philosophy (PhD)
School of Nursing
Phelan McDermid Syndrome (PMS) is a rare genetic disorder caused by deletions or mutations of the SHANK3 gene on chromosome 22q13.3. Language and communication impairment are hallmark features of PMS, and this dissertation aims to address the lack of consensus on appropriate methods for assessing these abilities and genotype-phenotype correlations of language and communication impairments in PMS.
The first chapter introduces PMS and associated language and communication impairment, identifies gaps in the literature, and shows how this research fills those gaps to advance our understanding of this rare genetic disease. The second chapter identifies and analyzes practices for assessing speech, language, and communication abilities in individuals with PMS, providing guidance on appropriate methodology for future studies, and emphasizes the importance of including speech-language pathologists (SLPs) on research teams. The third chapter reviews the literature to catalog language abilities and analyzes the language phenotype and associated genotype in individuals with PMS. The fourth chapter, manuscript 3, applies assessment tools to identify the communication profile of children with PMS and identifies the relevant genetic contributions.
Finally, chapter five presents a synthesis of all three manuscripts, implications for future research, and intervention measures based on the findings of this work. The results of this dissertation demonstrate the need for standardized assessment methods, the importance of incorporating SLPs into research teams for the development of rigorous research studies, and the relationship between the size and location of deletions in the chromosome 22q13.3 region and language impairment in PMS.
Quadri, Sarah, "Communication in Phelan-McDermid Syndrome: Assessment and Genotype-Phenotype Correlation" (2023). All Dissertations. 3302.
Author ORCID Identifier
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