Non-motor symptoms and quality of life in patients with PRRT2-related paroxysmal kinesigenic dyskinesia - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Movement Disorders Clinical Practice Année : 2023

Non-motor symptoms and quality of life in patients with PRRT2-related paroxysmal kinesigenic dyskinesia

Résumé

Background: Monoallelic pathogenic variants of PRRT2 often result in paroxysmal kinesigenic dyskinesia (PKD). Little is known about health-related quality of life (HrQoL), non-motor manifestations, self-esteem, and stigma in patients with PKD. Objectives: We investigated non-motor symptoms and how they related to HrQoL in a genetically homogeneous group of PRRT2-PKD patients. We paid special attention to perceived stigmatisation and self-esteem. Methods: We prospectively enrolled 21 consecutive PKD patients with a pathogenic variant of PRRT2, and 21 healthy controls matched for age and sex. They were evaluated with dedicated standardized tests for non-motor symptoms, HrQoL, anxiety, depression, stigma, self-esteem, sleep, fatigue, pain, and psychological well-being. Results: Patients reported an alteration of the physical aspects of HrQoL, regardless of the presence of residual paroxysmal episodes. Non-motor manifestations were frequent, and were an important determinant of the alteration of HrQoL. In addition, patients perceived a higher level of stigmatization which positively correlated with a delay in diagnosis (ρ=0.615, p=0.003) and the fear of being judged (ρ=0.452, p=0.04), but not with the presence of paroxysmal episodes (ρ=0.203, p=0.379). Conclusions: Our findings have important implications for care givers concerning patient management and medical education about paroxysmal dyskinesia. PRRT2-PKD patients should be screened for non-motor disorders in routine care. A long history of misdiagnosis may play a role in the high level of perceived stigmatization. Improving knowledge about diagnostic clues suggestive of PKD is mandatory.
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hal-04306310 , version 1 (24-11-2023)

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Asya Ekmen, Mohamed Doulazmi, Aurélie Méneret, Prasanthi Jegatheesan, Anais Hervé, et al.. Non-motor symptoms and quality of life in patients with PRRT2-related paroxysmal kinesigenic dyskinesia. Movement Disorders Clinical Practice, 2023, 10 (7), ⟨10.1002/mdc3.13795⟩. ⟨hal-04306310⟩
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