Lesch–Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype

Lesch–Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype Purpose of reviewLesch–Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an update on treatment for associated psychiatric and behavioral disorders.Recent findingsPsychiatric management utilizes combined behavioral and pharmacological treatment in conjunction with protective equipment and dental management to avert self-injury. Pharmacological management focuses on stabilization of mood and anxiety management. S-adenosylmethionine (SAMe), a physiological intermediate in methylation and transsulfuration, has shown beneficial effects in carefully selected patients who can tolerate the drug. Deep brain stimulation is shown in several case reports and series to reduce or eliminate self-injury and aggression, and in some cases, modify dystonia.SummaryThis review highlights progress in our understanding of the behavioral and neurocognitive phenotype of Lesch–Nyhan syndrome (HGprt deficiency) and its variants, describes psychiatric and behavioral management, and discusses prospects for new therapies. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Opinion in Psychiatry Wolters Kluwer Health

Lesch–Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype

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Publisher
Wolters Kluwer
Copyright
Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0951-7367
eISSN
1473-6578
D.O.I.
10.1097/YCO.0000000000000388
Publisher site
See Article on Publisher Site

Abstract

Purpose of reviewLesch–Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an update on treatment for associated psychiatric and behavioral disorders.Recent findingsPsychiatric management utilizes combined behavioral and pharmacological treatment in conjunction with protective equipment and dental management to avert self-injury. Pharmacological management focuses on stabilization of mood and anxiety management. S-adenosylmethionine (SAMe), a physiological intermediate in methylation and transsulfuration, has shown beneficial effects in carefully selected patients who can tolerate the drug. Deep brain stimulation is shown in several case reports and series to reduce or eliminate self-injury and aggression, and in some cases, modify dystonia.SummaryThis review highlights progress in our understanding of the behavioral and neurocognitive phenotype of Lesch–Nyhan syndrome (HGprt deficiency) and its variants, describes psychiatric and behavioral management, and discusses prospects for new therapies.

Journal

Current Opinion in PsychiatryWolters Kluwer Health

Published: Mar 1, 2018

References

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