Genetics

Gene absence linked to male neural development

Research conducted by the University of Valencia (UV) and the Jaume I University of Castellón (UJI), among other institutions, has found alterations to the structure of the brain's nonapeptidergic systems, social behavior ...

Medical research

Researchers find potential treatment for Rett Syndrome

An experimental cancer drug can extend the life of mice with Rett Syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report ...

Neuroscience

Abnormal neuron activity manifests as parental neglect

The brain undergoes dramatic change during the first years of life. Its circuits readily rewire as an infant and then child encounters new sights and sounds, taking in the world and learning to understand it. As the child ...

Neuroscience

Speeding up drug discovery for brain diseases

A research team led by Whitehead Institute scientists has identified 30 distinct chemical compounds—20 of which are drugs undergoing clinical trial or have already been approved by the FDA—that boost the protein production ...

Medical research

Treating core Rett syndrome symptoms

A new study published in Neurology reports the drug trofinetide has proven safe and effective in treating core symptoms of Rett syndrome in female children and adolescents.

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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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