Title :

Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia

Author(s) :

Ekmen, Asya [Auteur]
Doulazmi, Mohamed [Auteur]
Meneret, Aurélie [Auteur]
Jegatheesan, Prasanthi [Auteur]
Herve, Anais [Auteur]
Damier, Philippe [Auteur]
Gras, Domitille [Auteur]
Roubertie, Agathe [Auteur]
Piard, Juliette [Auteur]
Mutez, Eugenie [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Tarrano, Clément [Auteur]
Welniarz, Quentin [Auteur]
Vidailhet, Marie [Auteur]
Worbe, Yulia [Auteur]
Gallea, Cécile [Auteur]
Roze, Emmanuel [Auteur]

Journal title :

Movement Disorders

Volume number :

10

Pages :

1082-1089

Publication date :

2023-07

ISSN :

2330-1619

Keyword(s) :

PRRT2
paroxysmal disorders
non-motor symptoms
quality of life
stigma

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Submission date :

2024-01-15T22:35:58Z
2024-12-20T14:35:41Z