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

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Non-motor symptoms and quality of life in dopa-responsive dystonia patients. / Timmers, E. R.; Kuiper, A.; Smit, M.; Bartels, A. L.; Kamphuis, D. J.; Wolf, N. I.; Poll-The, B. T.; Wassenberg, T.; Peeters, E. A.J.; de Koning, T. J.; Tijssen, M. A.J.

I: Parkinsonism and Related Disorders, Vol. 45, 01.12.2017, s. 57-62.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Harvard

Timmers, ER, Kuiper, A, Smit, M, Bartels, AL, Kamphuis, DJ, Wolf, NI, Poll-The, BT, Wassenberg, T, Peeters, EAJ, de Koning, TJ & Tijssen, MAJ 2017, 'Non-motor symptoms and quality of life in dopa-responsive dystonia patients', Parkinsonism and Related Disorders, vol. 45, s. 57-62. https://doi.org/10.1016/j.parkreldis.2017.10.005

APA

Timmers, E. R., Kuiper, A., Smit, M., Bartels, A. L., Kamphuis, D. J., Wolf, N. I., Poll-The, B. T., Wassenberg, T., Peeters, E. A. J., de Koning, T. J., & Tijssen, M. A. J. (2017). Non-motor symptoms and quality of life in dopa-responsive dystonia patients. Parkinsonism and Related Disorders, 45, 57-62. https://doi.org/10.1016/j.parkreldis.2017.10.005

CBE

Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ. 2017. Non-motor symptoms and quality of life in dopa-responsive dystonia patients. Parkinsonism and Related Disorders. 45:57-62. https://doi.org/10.1016/j.parkreldis.2017.10.005

MLA

Vancouver

Author

Timmers, E. R. ; Kuiper, A. ; Smit, M. ; Bartels, A. L. ; Kamphuis, D. J. ; Wolf, N. I. ; Poll-The, B. T. ; Wassenberg, T. ; Peeters, E. A.J. ; de Koning, T. J. ; Tijssen, M. A.J. / Non-motor symptoms and quality of life in dopa-responsive dystonia patients. I: Parkinsonism and Related Disorders. 2017 ; Vol. 45. s. 57-62.

RIS

TY - JOUR

T1 - Non-motor symptoms and quality of life in dopa-responsive dystonia patients

AU - Timmers, E. R.

AU - Kuiper, A.

AU - Smit, M.

AU - Bartels, A. L.

AU - Kamphuis, D. J.

AU - Wolf, N. I.

AU - Poll-The, B. T.

AU - Wassenberg, T.

AU - Peeters, E. A.J.

AU - de Koning, T. J.

AU - Tijssen, M. A.J.

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

KW - Dopa-responsive dystonia

KW - Fatigue

KW - GTP-cyclohydrolase deficiency

KW - Health-related quality of life

KW - Non-motor symptoms

KW - Psychiatry

KW - Sleep

UR - http://www.scopus.com/inward/record.url?scp=85040753257&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2017.10.005

DO - 10.1016/j.parkreldis.2017.10.005

M3 - Article

C2 - 29066160

AN - SCOPUS:85040753257

VL - 45

SP - 57

EP - 62

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1873-5126

ER -