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Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia
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 t...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354617/ https://www.ncbi.nlm.nih.gov/pubmed/37476308 http://dx.doi.org/10.1002/mdc3.13795 |
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author | Ekmen, Asya Doulazmi, Mohamed Méneret, Aurélie Jegatheesan, Prasanthi Hervé, Anais Damier, Philippe Gras, Domitille Roubertie, Agathe Piard, Juliette Mutez, Eugenie Tarrano, Clément Welniarz, Quentin Vidailhet, Marie Worbe, Yulia Gallea, Cécile Roze, Emmanuel |
author_facet | Ekmen, Asya Doulazmi, Mohamed Méneret, Aurélie Jegatheesan, Prasanthi Hervé, Anais Damier, Philippe Gras, Domitille Roubertie, Agathe Piard, Juliette Mutez, Eugenie Tarrano, Clément Welniarz, Quentin Vidailhet, Marie Worbe, Yulia Gallea, Cécile Roze, Emmanuel |
author_sort | Ekmen, Asya |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10354617 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103546172023-07-20 Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia Ekmen, Asya Doulazmi, Mohamed Méneret, Aurélie Jegatheesan, Prasanthi Hervé, Anais Damier, Philippe Gras, Domitille Roubertie, Agathe Piard, Juliette Mutez, Eugenie Tarrano, Clément Welniarz, Quentin Vidailhet, Marie Worbe, Yulia Gallea, Cécile Roze, Emmanuel Mov Disord Clin Pract Research Articles 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. John Wiley & Sons, Inc. 2023-06-05 /pmc/articles/PMC10354617/ /pubmed/37476308 http://dx.doi.org/10.1002/mdc3.13795 Text en © 2023 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Research Articles Ekmen, Asya Doulazmi, Mohamed Méneret, Aurélie Jegatheesan, Prasanthi Hervé, Anais Damier, Philippe Gras, Domitille Roubertie, Agathe Piard, Juliette Mutez, Eugenie Tarrano, Clément Welniarz, Quentin Vidailhet, Marie Worbe, Yulia Gallea, Cécile Roze, Emmanuel Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia |
title | Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia |
title_full | Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia |
title_fullStr | Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia |
title_full_unstemmed | Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia |
title_short | Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia |
title_sort | non‐motor symptoms and quality of life in patients with prrt2‐related paroxysmal kinesigenic dyskinesia |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354617/ https://www.ncbi.nlm.nih.gov/pubmed/37476308 http://dx.doi.org/10.1002/mdc3.13795 |
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