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. 2018 Apr 6:5:3.
doi: 10.1186/s40734-018-0070-x. eCollection 2018.

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

Martje E van Egmond #  1   2 , Hendriekje Eggink #  1 , Anouk Kuiper  1 , Deborah A Sival  3 , Corien C Verschuuren-Bemelmans  4 , Marina A J Tijssen  1 , Tom J de Koning  1   3   4
Affiliations

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

Martje E van Egmond et al. J Clin Mov Disord. .

Abstract

Background: Diagnosis of less common young-onset movement disorders is often challenging, requiring a broad spectrum of skills of clinicians regarding phenotyping, normal and abnormal development and the wide range of possible acquired and genetic etiologies. This complexity often leads to considerable diagnostic delays, paralleled by uncertainty for patients and their families. Therefore, we hypothesized that these patients might benefit from a multidisciplinary approach. We report on the first 100 young-onset movement disorders patients who visited our multidisciplinary outpatient clinic.

Methods: Clinical data were obtained from the medical records of patients with disease-onset before age 18 years. We investigated whether the multidisciplinary team, consisting of a movement disorder specialist, pediatric neurologist, pediatrician for inborn errors of metabolism and clinical geneticist, revised the movement disorder classification, etiological diagnosis, and/or treatment.

Results: The 100 referred patients (56 males) had a mean age of 12.5 ± 6.3 years and mean disease duration of 9.2 ± 6.3 years. Movement disorder classification was revised in 58/100 patients. Particularly dystonia and myoclonus were recognized frequently and supported by neurophysiological testing in 24/29 patients. Etiological diagnoses were made in 24/71 (34%) formerly undiagnosed patients, predominantly in the genetic domain. Treatment strategy was adjusted in 60 patients, of whom 43 (72%) reported a subjective positive effect.

Conclusions: This exploratory study demonstrates that a dedicated tertiary multidisciplinary approach to complex young-onset movement disorders may facilitate phenotyping and improve recognition of rare disorders, with a high diagnostic yield and minimal diagnostic delay. Future studies are needed to investigate the cost-benefit ratio of a multidisciplinary approach in comparison to regular subspecialty care.

Keywords: Clinical phenotyping; Diagnosis; Dystonia; Multidisciplinary; Myoclonus; Young-onset movement disorders.

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Conflict of interest statement

This study was carried out in accordance with the ethical standards and regulations of the Medical Ethical Committee of the University Medical Center Groningen, the Netherlands. All subjects in this study received care-as-usual and the presented data cannot be traced back to individual patients. Therefore this study is not subject to the Law on Medical Scientific Research involving Human Beings (WMO), and written informed consent from the subjects was not required.Not applicable, as the manuscript does not contain any individual person’s data.The authors declare that they have no competing interests. Full financial disclosures of all authors: Dr. van Egmond received a travel grant from Medtronic; Prof Tijssen received research grants from Fonds Nuts-Ohra, Stichting Wetenschapsfonds Dystonievereniging, Prinses Beatrix Foundation, STW Technology society (NeuroSIPE), and Phelps Stichting voor Spastici. Unrestricted grants were received from Allergan Pharmaceuticals, Actelion, Ipsen Pharmaceuticals. An unrestricted grant was received from Medtronic for a dystonia nurse, and from DystonieNet for a teaching course. Dr. de Koning received a research grant from Metakids Foundation, Ride4Kids Foundation, and Metabolic Power Foundation (non-profit) and a research grant from Actelion (for profit). The other authors have indicated they have no financial relationships to disclose.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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