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

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.

Movement disorders in patients with alternating hemiplegia

“…In our study there seems to be a discrepancy with the results of prior studies in French patients in which choreoathetosis and ataxia were noted in all patients 20 and in USA patients in which ataxia was noted in 68% of patients 11 . Phenomenological assessment of movement disorders may be very challenging in childhood; this was suggested by authors of the former study for AHC patients (Bourgeois et al 20 ) and was further highlighted by a recent study that reported on young-onset movement disorders patients referred to a multidisciplinary outpatient clinic 21 . The advantage of our study is its prospective nature with clinical examination particularly focalized in assessment of movement disorders, completed by a further blinded video-based analysis of phenomenology by our second movement disorder expert.…”

Diagnostic approach to paediatric movement disorders: a clinical practice guide

“…In addition, the number of possible aetiologies is growing, especially those concerning genetic causes. Owing to a variable phenotype–genotype correlation, the diagnostic process for PMDs becomes challenging and time consuming, not only for the clinician but also for patients and caregivers 2 …”

“…Owing to a variable phenotype-genotype correlation, the diagnostic process for PMDs becomes challenging and time consuming, not only for the clinician but also for patients and caregivers. 2 Innovative next-generation sequencing (NGS) techniques have increased the diagnostic yield in paediatric neurology. 3 The use of NGS can speed up the diagnostic process and prevent unnecessary additional investigations, and shorten the time of uncertainty in patients and caregivers.…”

GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?

“…Diagnosis is made even harder in adulthood, given that information on the potential perinatal injury and the results of childhood investigations are often lacking more than 15 years later. Taking into account the huge progress in medical knowledge and diagnostic tools during the last two decades, we think that the transition from pediatrics to adult neurology may represent a good opportunity to reappraise the diagnosis with a multidisciplinary approach . Dedicated transition care programs in neurology may foster this diagnosis reappraisal …”

“…Taking into account the huge progress in medical knowledge and diagnostic tools during the last two decades, we think that the transition from pediatrics to adult neurology may represent a good opportunity to reappraise the diagnosis with a multidisciplinary approach. 5 Dedicated transition care programs in neurology may foster this diagnosis reappraisal. 6 In the current issue, Ros-Castelló et al report the case of a 52-year-old woman misdiagnosed as CP, who actually had GLUT1 deficiency.…”