Exploring Suspected Pathogenicity of SETD5 Gene and Assessing the Impact of Speech and Physical Therapy Interventions: A Case Study Analysis with a Goal Attainment Scale Approach

Abstract

Global developmental delay (GDD) is a heterogeneous condition characterized by delays in reaching developmental milestones during early childhood. Recent advancements in genetic research have underlined the role of genetic mutations in contributing to various neurodevelopmental disorders, including developmental delays (DD). One particular gene of interest, SETD5, has been associated with a distinct manifestation of developmental delay. Case description Through a case study approach, this study investigates the suspected pathogenicity of SETD5 gene mutations in a child who is 2 years and 5 months old and assesses the effectiveness of speech therapy and physical therapy interventions in a child with these mutations using the Goal Attainment Scale (GAS). Comprehensive clinical and developmental assessments such as Magnetic Resonance Imaging, Diffusion- Weighted Imaging, Magnetic Resonance Angiography, Whole exome sequencing (WES), Copy number analysis, Speech therapy assessment, and Physical therapy assessment were performed. Pre-intervention assessments revealed significant speech and motor delays. Post-Intervention GAS Scores revealed that the child displayed an average change of 32.8 and 32 in the areas of speech therapy and physical therapy, respectively. These scores signify a positive shift in outcomes for the broader objectives within speech therapy and physical therapy. Conclusions The findings of this study suggest that early diagnosis and interventions offer the potential in addressing speech and motor challenges linked to SETD5-related developmental disorders, improving the quality of life for those affected and their families. Keywords: Developmental delay, Global Developmental Delay, SETD5 gene mutation, Genetic counseling, Neurodevelopmental disorders, Speech therapy, Physical therapy, Goal Attainment Scale