Objective: The objectives of this project were twofold: 1. Determine how genotypes of Parkinson’s Disease (PD) affect voice & swallowing function, and 2. Examine how genotypes affect longitudinal progression in voice & swallowing symptoms.

Background: The majority of people with PD (PwPD) will experience voice & swallowing impairment at some point in the disease process. Despite knowledge of the importance and complications of voice & swallowing in PwPD, research into how individual patient and disease factors such as genotypes contribute to voice & swallow impairment lags other fields. Given this gap, we aimed to investigate how voice & swallowing impairment may manifest in different genotypes of PD.

Method: The Parkinson’s Progression Markers Initiative (PPMI) data set was used to examine patient reported symptoms of speech & voice and swallow impairment in LRRK2, GBA, & SNCA genotypes. Patients that were genotyped and obtained speech & voice and swallow symptom reports from the UPDRS and SCOPA-AUT for at least four yearly visits were included in this analysis. Linear fixed effect modeling was used to examine differences between genotypes, & Repeated Measures Linear Fixed Effect Modeling was used to examine the interaction between genotype and speech & voice and swallow symptom reports over time. Montreal Cognitive Assessment (MoCA) scores were included as covariates in both models to control for cognitive impairment in patient self-reports.

Results: There was a significant effect of genotype on speech & voice related (p < 0.001) and swallow related (p < 0.01) UPDRS questions. LRRK2 genotyped patients had significantly better speech & voice and swallow reports than GBA & SNCA genotypes. There were also significant interactions between genotype and symptom reports over time (p < 0.001). LRRK2 genotyped patients reported significantly fewer speech & voice symptoms than GBA in years 3, 5, 7, & 8, and SNCA in years 3, 5, 6, & 7. UPDRS swallowing questions displayed the SNCA genotype reported significantly more swallow symptoms than LRRK2 and GBA in years 3 & 5.

Conclusion: Not only are there differences in self-reported speech & voice and swallow impairment in different genotypes of PD, but certain genotypes may experience faster deterioration in perceived voice & swallow function over time. Substantially more research needs to be done in the areas of voice & swallow function in genotypes of PD.

Swallow Function per Genotype by Year

Speech and Voice Function per Genotype by Year

Swallow Function Scores by Genotype

Speech and Voice Function Scores by Genotype

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-effect-of-genotype-on-voice-swallowing-in-parkinsons-disease-a-parkinsons-progression-markers-initiative-study/