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A field guide to current advances in paediatric movement disorders
Laura Silveira-Moriyama1, Jean-Pierre Lin
1aPostgraduate 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.
Insights
Advances in neurogenetics and neuroimmunology are transforming pediatric movement disorders. New genetic discoveries and therapies like behavioral interventions offer hope for conditions such as anti-NMDA receptor encephalitis and Tourette syndrome.
Area of Science:
- Neuroscience
- Genetics
- Immunology
Background:
- Paediatric movement disorders are increasingly understood through advances in neurogenetics and neuroimmunology.
- Nonpharmacological treatments are gaining prominence in managing these conditions.
Purpose of the Study:
- To review recent findings in paediatric movement disorders.
- To provide a framework for navigating the expanding literature in the field.
Main Methods:
- Review of recent scientific literature.
- Synthesis of findings from neurogenetics, neuroimmunology, and treatment studies.
Main Results:
- Anti-NMDA receptor encephalitis is a significant treatable cause of pediatric movement disorders, linked to herpes simplex encephalitis.
- Next-generation sequencing has identified more genes associated with paediatric movement disorders, revealing variable expressivity and pleiotropy.
- Behavioral therapies show efficacy in Tourette's syndrome and complex motor stereotypies.
- Dystonia management remains a clinical challenge.
Conclusions:
- Translational medicine advances are significantly impacting the diagnosis and treatment of paediatric movement disorders.
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.
