Abstract

Objective Management of young-onset movement disorders is often challenging. The ideal approach requires a broad spectrum of skills and knowledge of the clinician, including (1) correct classification; (2) differentiation of normal and abnormal development; (3) knowledge of the possible acquired and genetic aetiologies, including metabolic diseases; and (4) knowledge of current genetic diagnostic strategies. Therefore, we initiated a specialised multidisciplinary outpatient clinic for young-onset movement disorders, with a team consisting of an adult neurologist specialised in movement disorders, paediatric neurologist, clinical geneticist and paediatrician specialised in metabolic diseases and genetics. The aim of this observational study was to report our experience. Methods The medical records of the first 100 patients who visited the multidisciplinary outpatient clinic were reviewed. We compared the movement disorder classification, (supposed) etiological diagnosis and treatment strategies before and after the visit. In addition, we evaluated the effects of initiated therapies as reported by the patients or their caregivers. Results Patients (n=100) had an age of 12.5 years ± 6.3 and 56 of them were boys. The mean onset age of the symptoms was 3.4 years ± 5.3. Referring specialists were predominantly (paediatric) neurologists (74%) with as main referring questions classification (50%), etiological diagnosis (38%) and treatment options for the movement disorder (42%). In 58 patients movement disorder classification was revised, especially from ataxia and tremor to myoclonus. Differences in etiological diagnosis were particular made in the genetic domain where the confirmed genetic diagnosis in patients almost doubled from 17 to 32. The team changed the treatment strategy in the majority of the patients (60%). In 70% (n=40) patients and/or their caregivers reported a subjective positive effect three to six months after initiation. Conclusion The results of this observational study indicate that multidisciplinary specialist care significantly contributes to the diagnosis and treatment of young-onset movement disorders.

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