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

Martje E Van Egmond,Tom J De Koning,Corien C Verschuuren-Bemelmans,Deborah A Sival,Hendriekje Eggink,Marina A J Tijssen,Anouk Kuiper

doi:10.1186/s40734-018-0070-x

Martje E Van Egmond, Tom J De Koning + Show 5 more

Open Access

https://doi.org/10.1186/s40734-018-0070-x

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Abstract

BackgroundDiagnosis 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.MethodsClinical 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.ResultsThe 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.ConclusionsThis 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.

Highlights

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
Multidisciplinary outpatient clinic The clinic was initiated in 2012 with a team consisting of an adult neurologist specialized in Movement disorder (MD) (MT), a pediatric neurologist specialized in developmental neurology and Young-onset movement disorder (YMD) especially ataxia (DS), a pediatrician specialized in metabolic diseases (TK) and a clinical neuro-geneticist (CV)
Data collection We evaluated the first 100 patients who visited our multidisciplinary clinic for YMDs between June 2012 and May 2014

Summary

Introduction

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. We report on the first 100 young-onset movement disorders patients who visited our multidisciplinary outpatient clinic. Young-onset movement disorders (YMDs) is a relatively new field in neurology, comprising clinical neurological syndromes presenting with involuntary movements manifesting before the age of 18. YMDs can be caused by a broad spectrum of both acquired and genetic disorders, including infections, auto-antibody and auto-immune disorders, as well as rare metabolic disorders and other inherited defects [7, 12,13,14]

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