Objective: Non motor symptoms have a significant contribution to the quality of life of patients with Parkinson’s disease.The aim of the study was to assess the non motor symptoms in familial PD patients and their impact on the quality of life

Background: A positive family history is present in about 15% of all Parkinson’s disease patients.Several non motor symptoms have a negative impact on the quality of life of PD patients,including presence of depression and cognitive impairment as shown by previous studies.There is paucity of data on prevalence and profile of non motor symptoms in familial PD patients and their impact on the quality of life.

Method: We prospectively recruited 24 patients of familial PD patients presenting to a tertiary care centre in South India.Demographic data was collected and UPDRS III on and off assessment were done for all patients.Non motor symptoms were assessed using standardised scales such as -Non motor symptom (NMS) scale,NMS Quest,Impulse control disorders questionnaire (QUIP),Hospital  anxiety and depression rating scale,RBDSQ, Epworth Sleepiness Scale(ESS),Pittsburg sleep quality index (PSQI), Montreal cognitive assessment (MoCA), Parkinson’s disease quality of life (PDQ 39).

Results: The male to female ratio was 2:1.Mean age at onset was 43.5 ±12 years.Autosomal dominant inheritance was seen in 20.8% patients and Autosomal recessive in 79.2%.The mean duration of illness was 7.83±6.61 years.UPDRS III off was 33.2±9.77,UPDRS III On was 15.25±9.31.16.6% patients had excessive day time sleepiness on ESS.RBD was present in 12.5%.Poor sleep quality as judged by a PSQI score of more than 5 was present in 66% of the patients.Significant and borderline depression were present in 29.1% each.Significant and borderline anxiety were present in 25% and 20.8% patients respectively cognitive impairment was present in 29.1%..Cardiovascular symptoms were present in 29%,subjective forgetfulness in 100%,constipation in 50%,urinary disturbances in 75% patients.Quality of life assessment showed poor scores in the ADL,mobility,emotional and stigma domains

Conclusion: Nonmotor symptoms including sleep disturbances,gastrointestinal and urinary disturbances,forgetfulness,anxiety,depression were common in this familial PD cohort.There may be important differences in the non motor profile of familial PD cohorts as compared to sporadic cases.The relative impact of these symptoms on quality of life needs to be further explored.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/profile-of-non-motor-symptoms-in-familial-parkinsons-disease/