Abstract
Progresses in molecular genetics have improved the diagnostic yield of severe neurodevelopmental disorders in childhood as neuromuscular diseases, epilepsy, and movement disorders. Consequently, for some disorders, a personalized therapy is now available ameliorating the genetic defect even in previously devastating diseases. For example, intrathecal anti-sense nucleotide therapy is now available for patients with spinal muscle atrophy. Early intervention is even proposed in asymptomatic carriers of proven detrimental mutations of the responsible gene, SMN-1. The latter case is now further addressed by the intervention of a neonatal pilot screening program for SMA in Bavaria. Furthermore, gene therapy approaches for this disease have currently been approved by the U.S. Food and Drug Administration (FDA). Other interventions as deep brain stimulation and roboticĀ assisted rehabilitation are increasingly used to improve motor functions in children with movement disorders. However, all mentioned approaches bear high costs and address new challenges for public and private health services. Fortunately, there is increasing awareness of rare diseases in childhood prompting more research in order to find personalized therapy approaches in these diseases.
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Borggraefe, I. (2022). Genetics, Neurostimulation, and Robotics: Implications for the Developing Child. In: Wilderer, P.A., Grambow, M., Molls, M., Oexle, K. (eds) Strategies for Sustainability of the Earth System. Strategies for Sustainability. Springer, Cham. https://doi.org/10.1007/978-3-030-74458-8_15
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