Laura Silveira-Moriyama1, Jean-Pierre Lin. 1. aPostgraduate Program in Medicine, Universidade Nove de Julho, Uninove, São Paulo, Brazil bReta Lila Weston Institute, UCL Institute of Neurology, London, UK cNeurology Department, University of Campinas, FCM-UNICAMP, Campinas dComplex Motor Disorder Service, Children's Neurosciences, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust & King's Health Partners, London, UK.
Abstract
PURPOSE OF REVIEW: Recent advances in neurogenetics, neuroimmunology and nonpharmacological treatments have reshaped the field of paediatric movement disorders. In this review, we put recent findings into context providing a framework to enable navigation of the expanding literature in this field. RECENT FINDINGS: Anti-NMDA receptor encephalitis has proven to be a significant cause of treatable movement disorder in children and to present a multifaceted link with herpes simplex encephalitis. The growing use of next-generation sequencing in both research and clinical practice has unravelled an expanding number of genes related to paediatric movement disorders as well as expanding spectrums of variable expressivity and phenotypic pleiotropy for various genes. Behavioural therapies have been proven efficacious in Tourette's syndrome and are likely to be helpful in complex motor stereotypies. Management of dystonia remains a clinical priority and challenge. SUMMARY: The rapid advance of translational medicine has had major impacts on the field of paediatric movement disorders including diagnosis and treatment of these conditions.
PURPOSE OF REVIEW: Recent advances in neurogenetics, neuroimmunology and nonpharmacological treatments have reshaped the field of paediatric movement disorders. In this review, we put recent findings into context providing a framework to enable navigation of the expanding literature in this field. RECENT FINDINGS: Anti-NMDA receptor encephalitis has proven to be a significant cause of treatable movement disorder in children and to present a multifaceted link with herpes simplex encephalitis. The growing use of next-generation sequencing in both research and clinical practice has unravelled an expanding number of genes related to paediatric movement disorders as well as expanding spectrums of variable expressivity and phenotypic pleiotropy for various genes. Behavioural therapies have been proven efficacious in Tourette's syndrome and are likely to be helpful in complex motor stereotypies. Management of dystonia remains a clinical priority and challenge. SUMMARY: The rapid advance of translational medicine has had major impacts on the field of paediatric movement disorders including diagnosis and treatment of these conditions.
Authors: Rodi Zutt; Martje E van Egmond; Jan Willem Elting; Peter Jan van Laar; Oebele F Brouwer; Deborah A Sival; Hubertus P Kremer; Tom J de Koning; Marina A Tijssen Journal: Nat Rev Neurol Date: 2015-11-10 Impact factor: 42.937