Date of Award

Spring 2026

Document Type

Open Access Dissertation

Department

Genetic Counseling

First Advisor

Crystal Hill-Chapman

Abstract

Mucopolysaccharidosis type III (MPS III) is a neurodegenerative lysosomal storage disorder characterized by autistic behaviors and skill regression. Although there is currently no cure for MPS III, various therapeutic approaches are recommended to manage the associated clinical manifestations. The aim of this exploratory study was to assess the perspectives of parents and providers on rehabilitative therapy for their children or patients with MPS III. Furthermore, it evaluated the potential benefit of an MPS III therapy resource developed by genetic counselors. Interview and survey responses were collected between September 2025 and January 2026. Eligible providers included certified speech, physical, occupational, and behavioral therapists. The study yielded one parent interview, four completed parent survey responses, and eight partially completed parent survey responses. Additionally, it yielded one provider interview, four completed provider survey responses, and five partially completed provider survey responses. Thematic analysis revealed seven themes surrounding therapy goals, best practices, and gaps in resources and access. Parents and providers demonstrated consistent perspectives on therapy goals and techniques for children with MPS III. Additionally, most participants noted a need for more targeted resources. One discordance in responses was that parents reported less collaboration between their child’s therapists than providers. This study provides preliminary evidence that the MPS III community would benefit from concise educational resources for providers and a therapy navigation guide for parents. Additionally, it suggests that increasing collaboration between providers could lead to improved parent perspectives.

Rights

© 2026, Laura Denise Ciccarelli

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