Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future

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• 作者：Clara D.M. van Karnebeek ; MD ; PhD^a ; ^{cvankarnebeek@cw.bc.ca} ; Kristin Bowden ; PhD^b ; Elizabeth Berry-Kravis ; MD ; PhD^c ; ^d ; ^e ; ^{elizabeth_m_berry-kravis@rush.edu}
• 关键词：neurogenetic disorders ; therapy ; genetic diseases ; fragile X syndrome ; developmental disorders
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：65
• 期：Complete
• 页码：1-13
• 全文大小：1192 K
• 卷排序：65

文摘

Neurogenetic developmental conditions represent a heterogeneous group of rare inherited disorders with neurological manifestation during development. Treatments for these conditions have largely been supportive; however, a number of treatments are emerging which target the underlying physiology and offer great potential. Our aim was to present a state-of-the-art overview of the current and potential causal treatments available or under development for neurogenetic developmental conditions.MethodsIn this review, we focus on the following neurogenetic developmental conditions: (1) inborn errors of metabolism causing neurogenetic developmental conditions, (2) fragile X syndrome, (3) Rett syndrome, (4) tuberous sclerosis complex, 5) Down syndrome and other neurogenetic developmental conditions.ResultsA large group of inborn errors of metabolism leads to neurodevelopmental disability, affecting the central nervous system during infancy or childhood and can present with comorbidities such as intellectual developmental disability, epilepsy, atypical cerebral palsy, autism spectrum disorder, behavioral and psychiatric disturbances, for which causal treatments are discussed.ConclusionsThe advent of these new disease-modifying therapies has the potential to reverse the underlying neural mechanisms of these debilitating conditions, which may provide prospect to affected individuals.