Non-motor symptoms and quality of life in dopa-responsive dystonia patients

Research output: Contribution to journalArticle

Abstract

Background In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. Methods Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls. Results Twenty-eight patients were included (18 adults and 10 children), from 10 families. Dystonia symptoms were well-controlled in all patients. According to the DSM IV patients significantly more often met the criteria for a lifetime psychiatric disorder than controls (61% vs. 29%, p < 0.05). In particular the frequencies of generalized anxiety and agoraphobia were higher in patients (both 29% vs. 4%, p < 0.05). Patients scored significantly higher on daytime sleepiness than controls (ESS, 11.2 vs 5.7, p < 0.05). Adult patients had significantly lower scores on the mental component of the HR-QoL (47 vs. 54, p < 0.05) than controls mainly associated with (worse) quality of sleep. Conclusion NMS were highly prevalent in our cohort of DRD patients, despite adequate treatment of motor symptoms. Our findings support the accumulating evidence of an important non-motor phenotype in DRD, with possible involvement of serotonergic mechanisms. This highlights the need to address NMS and the underlying neurobiology in patients with DRD.

Details

Authors
  • E. R. Timmers
  • A. Kuiper
  • M. Smit
  • A. L. Bartels
  • D. J. Kamphuis
  • N. I. Wolf
  • B. T. Poll-The
  • T. Wassenberg
  • E. A.J. Peeters
  • T. J. de Koning
  • M. A.J. Tijssen
External organisations
  • University Medical Center Groningen
  • Ommelander Hospital Group
  • Reinier de Graaf Hospital - SSDZ
  • Amsterdam UMC - Vrije Universiteit Amsterdam
  • Academic Medical Center of University of Amsterdam (AMC)
  • Radboud University Medical Center
  • Juliana Children Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology

Keywords

  • Dopa-responsive dystonia, Fatigue, GTP-cyclohydrolase deficiency, Health-related quality of life, Non-motor symptoms, Psychiatry, Sleep
Original languageEnglish
Pages (from-to)57-62
Number of pages6
JournalParkinsonism and Related Disorders
Volume45
Publication statusPublished - 2017 Dec 1
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes