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Wernicke’s encephalopathy (WE) is a rare neurologic disease caused by a deficiency in thiamine (B1). It is characterized by features of altered mental status, cerebellar dysfunction, and ophthalmoplegia. Most often, cases are attributed to long-term alcohol use; however, rarer causes have been described in the literature. In this article, we describe a case of WE caused by hyperemesis gravidarum in a 19-year-old female with no known medical history.

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Multifactorial mechanisms, including varying degrees of polygenic risk, contribute to most child onset psychiatric disorders. Methods to better understand the biological impact of inherited low-risk variation are emerging, and these studies may be useful to develop novel treatments for childhood onset psychiatric disorders. In some neurodevelopmental disorders, specifically autism spectrum disorder (ASD) and intellectual disability (ID), recurrent spontaneously mutated genes have been identified. This leads to the current focus on individual, high-risk targets (e.g., SHANK3, FMR1, MECP2, CHD8) for development of novel treatments. This chapter summarizes and begins to compare neurobiological data from several distinct single gene disorders as a means to guide further therapeutic development based on overlapping pathways of interest.