Medical research

A role for glia in the progression of Rett syndrome

A paper published online today in Nature reveals that glia play a key role in preventing the progression of the most prominent Rett Syndrome symptoms displayed by mouse models of the disease: lethality, irregular breathing ...

Neuroscience

Global study of breathing issues in Rett syndrome

Researchers at the University of Alabama at Birmingham are part of the international STARS study to see if a drug originally developed for Parkinson's disease might help reduce breathing issues common in patients with Rett ...

Immunology

Surprising contributor to Rett syndrome identified

The immune system is designed to protect us from disease. But what if it was malfunctioning? Would it make a disease worse? That appears to be the case with Rett syndrome, a neurodevelopmental disorder, and possibly in other ...

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Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of individuals affected are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.

The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.

Some argue[citation needed] that it is misclassified as an autism spectrum disorder, just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. However, it has been suggested that it be removed from the DSM-5, because it has a specific etiology.

It was first described by Austrian pediatrician Andreas Rett in 1966.

In DSM-IV-TR page 76, Rett's Disorder 299.80 is listed under the broad category of Pervasive Developmental Disorders.

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