journal article Feb 03, 2022

Zinc deficiency and supplementation in autism spectrum disorder and Phelan‐McDermid syndrome

Journal of Neuroscience Research Vol. 100 No. 4 pp. 970-978 · Wiley
View at Publisher Save 10.1002/jnr.25019
Abstract
Abstract

Approximately 1 in 36 children are diagnosed with autism spectrum disorder (ASD). The disorder is four times more common in males than in females. Zinc deficiency and mutations in
SHANK2
and
SHANK3
(members of a family of excitatory postsynaptic scaffolding proteins) are all risk factors that may contribute to the pathophysiology of the disease. The presence of shankopathies (loss of one copy of the
SHANK3
gene) can lead to the development of Phelan‐McDermid syndrome (PMDS)—a rare genetic disorder characterized by developmental delay, intellectual disability, poor motor tone, and ASD‐like symptoms. We reviewed the relationship between zinc, ASD, and PMDS as well as the effect of zinc supplementation in improving symptoms of ASD and PMDS based on 22 studies published within 6 years (2015–2020). Zinc deficiency (assessed by either dietary intake, blood, hair, or tooth matrix) was shown to be highly prevalent in ASD and PMDS patients as well as in preclinical models of ASD and PMDS. Zinc supplements improved the behavioral deficits in animal models of ASD and PMDS. Clinical trials are still needed to validate the beneficial therapeutic effects of zinc supplements in ASD and PMDS patients.
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