Category: Allied Healthcare Professionals
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.
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To cite this abstract in AMA style:
M. Dumican, T. Reyers, A. Malczewski. The Effect of Genotype on Voice & Swallowing in Parkinson’s Disease: A Parkinson’s Progression Markers Initiative Study [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/the-effect-of-genotype-on-voice-swallowing-in-parkinsons-disease-a-parkinsons-progression-markers-initiative-study/. Accessed October 6, 2024.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-effect-of-genotype-on-voice-swallowing-in-parkinsons-disease-a-parkinsons-progression-markers-initiative-study/