SLP Knowledge of Expressive and Receptive Language Deficits in Individuals with Rare Chromosome Abnormalities: Focus on Chromosome 12Q24.31-33

Date of Submission

Spring 2025

Document Type

Closed Research Project

Degree Name

Master of Science in Speech-Language Pathology

Department

Speech-Language Pathology

First Advisor

Lourdes Martinez-Nieto, PhD

Abstract

Speech-Language Pathologists (SLPs) play a critical role in providing assessments, treatment, and diagnoses to individuals with chromosome abnormalities. However, existing research highlights a knowledge gap SLPs have regarding chromosome abnormalities, specifically in the context of less researched genetic imbalances such as Chromosome 12q24.31-33 deletion (12q24.31-33 deletion). This rare chromosome deletion is relevant to SLPs because it has been reported there is a presence of expressive and receptive language deficits but not specific information of these deficits or how they compare to other chromosome abnormalities. The present study aims to examine what specific language deficits SLPs report related to chromosome abnormalities, within expressive and receptive domains and how these compare to various chromosome abnormalities. A quantitative approach was used, involving a 39-Likert scale survey administered to 11 SLPs with experience working with individuals with chromosome abnormalities. Results indicated that SLPs reported language deficits in all domains; with specific deficits per area (syntax, morphology, vocabulary, phonology, and pragmatics) for individuals with various chromosomal abnormalities. Even though, only 36% of SLPs reported experience working with individuals who have 12q24.31-33 deletion, reported deficits for this population are similar to those reported for various chromosome abnormalities.

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