Objective: The aim of this study was to systematically investigate the prevalence of psychiatric disorders, sleep problems and health-related quality of life (HRQoL) in patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD). 

Background: It is hypothesized that non-motor symptoms are an important part of the DRD phenotype.

Methods: We assessed the type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL in 12 adult DRD patients with a confirmed CGH1 mutation and 24 matched healthy controls. Psychiatric assessment included the Mini International Neuropsychiatric Interview – PLUS (MINI-PLUS) and quantitative questionnaires for depression and anxiety (BDI and BAI). Sleep problems, fatigue and HR-QoL were assessed with validated questionnaires (ESS, FSS, PSQI and RAND-36 Health Survey).

Results: In all patients dystonia symptoms were well-controlled (mean BFM score 7.4). A high percentage of patients had a history of mental health care consultation; 66.7% vs. 33.3% of the controls (p=0.08). The MINI-PLUS interview also revealed a higher life-time prevalence of psychiatric disorders in patients; in particular more anxiety was found (41.7% vs. 0%, p<0.01). The scores on the quantitative depression and anxiety rating scales did not significantly differ, although the BDI score was on average almost 3 points higher in the DRD group than in the control group (7.8 vs 4.6, p=0.10). Significantly more sleep disturbances and fatigue were reported in the patient group. Even when corrected for anxiety and depression, daytime sleepiness remained significantly more frequent than in controls (p=0.02). DRD patients also had significantly lower HR-QoL scores than the control group and a decreased physical QoL was associated with fatigue, daytime sleepiness and quality of sleep.

Conclusions: Non-motor symptoms were highly prevalent in our cohort of DRD patients despite good dystonia control. Our findings support accumulating evidence of an important non-motor phenotype in DRD. This highlights the need for systematic research into these symptoms and the underlying neurobiology. Adequate treatment of their non-motor symptoms could significantly contribute to a better quality of life in patients with DRD.

References: This research was previously presented (in different way and containing less data) at the SSIEM annual congress 2016 in Rome.

« Back to 2017 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/substantial-psychiatric-symptoms-sleep-disturbances-and-reduced-quality-of-life-in-well-treated-adult-patients-with-gtp-cyclohydrolase-deficient-dopa-responsive-dystonia/