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

Asya Ekmen
  • Fonction : Auteur
Mohamed Doulazmi
Aurélie Méneret
Prasanthi Jegatheesan
  • Fonction : Auteur
Anais Hervé
  • Fonction : Auteur
Philippe Damier
Domitille Gras
  • Fonction : Auteur
Agathe Roubertie
Juliette Piard
  • Fonction : Auteur
Eugenie Mutez
Clément Tarrano
Quentin Welniarz
Marie Vidailhet
Yulia Worbe
  • Fonction : Auteur
Emmanuel Roze
  • Fonction : Auteur

Résumé

ABSTRACT 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 stigmatization 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-04237611 , version 1 (11-10-2023)

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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), pp.1082-1089. ⟨10.1002/mdc3.13795⟩. ⟨hal-04237611⟩
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