Main Article Content
Abstract
We stand on the shoulders of giants on the threshold of many new exciting developments in the field of child neurology due to innovations in clinical approach, diagnostic technologies and treatment strategies. There are many exciting new technologies, but we must never forget the power of clinical medicine which allows us to interpret and use these tools with precision and with clinical wisdom. Strong collaborations continue to be needed: between clinicians for the meticulous clinical phenotyping, expansion of the range of phenotypic expression, and the entry of patients into international RCTs (randomised controlled trials); between the biochemists for the biochemical phenotyping and understanding of the basic pathophysiology of the underlying dysregulations and disease mechanisms arising from the protein dysfunctions and the development of robust biomarkers, to evaluate disease severity and response to therapies; and between the geneticists for the understanding of the impact of the exonic or intronic mutations, roles of other regulatory genes on the affected pathway, and epigenetic factors. These collaborations in the aggregate will lead the field forward in terms of increased insight into disease pathophysiology for the development of targeted precision medicine treatment strategies and effective preventative measures. This review is meant to highlight certain selected areas of future development and is not meant to be a comprehensive survey beyond the scope of this review. The subspecialty areas which will be highlighted will include intellectual disability, epilepsy, neuroprotection, neonatal and fetal neurology, CNS infections, headache, autoimmune/inflammatory disorders, demyelinating disorders, stroke, movement disorders, neurotransmitter defects, neuromuscular diseases, neurometabolic disorders, neurogenetic diseases, neuropsychiatry/autism, and neurooncology. In each subspecialty area, I will endeavor to identify emerging diseases, new specific diagnostic technologies and novel therapeutic approaches, but will need to be selective. This review is the culmination of a literature survey for current developments, discussions with leaders in each of the subspecialty fields, who I will acknowledge at the end, and certain personal projections.
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