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Pediatr Neurol. 2016 Dec;65:1-13. doi: 10.1016/j.pediatrneurol.2016.07.010. Epub 2016 Jul 26.

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

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Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:
Centre for Heart Lung Innovation, University of British Columbia and St. Paul's Hospital, Vancouver, British Columbia, Canada.
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois; Department of Biochemistry, Rush University Medical Center, Chicago, Illinois. Electronic address:



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.


In 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.


A 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.


The 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.


developmental disorders; fragile X syndrome; genetic diseases; neurogenetic disorders; therapy

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