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What causes Rett syndrome?

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Most children with Rett syndrome have a mutation on the X chromosome. Exactly what this gene does, or how its mutation leads to Rett syndrome, isn’t clear. Researchers believe that the single gene may influence many other genes involved in development. Although Rett syndrome is genetic, children almost never inherit the faulty gene from their parents. Rather, it’s a chance mutation that happens in DNA. When boys develop the Rett syndrome mutation, they rarely live past birth. Males have only one X chromosome (instead of the two girls have), so the effects of the disease are much more serious, and almost always fatal.

From: Rett Syndrome: What to Know WebMD Medical Reference

SOURCES: Zhang, Y. 2008. National Institute of Neurological Disorders and Stroke: "Rett Syndrome Fact Sheet." : “The autism spectrum: subgroups, boundaries, and treatment.” National Institute of Mental Health: "Autism Spectrum Disorders."



Neurology,Psychiatric Clinics of North America

Mayo Clinic: “Rett Syndrome.”

Reviewed by Smitha Bhandari on January 8, 2017

SOURCES: Zhang, Y. 2008. National Institute of Neurological Disorders and Stroke: "Rett Syndrome Fact Sheet." : “The autism spectrum: subgroups, boundaries, and treatment.” National Institute of Mental Health: "Autism Spectrum Disorders."



Neurology,Psychiatric Clinics of North America

Mayo Clinic: “Rett Syndrome.”

Reviewed by Smitha Bhandari on January 8, 2017

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How is Rett syndrome diagnosed?

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