Rett Syndrome Research Foundation

About Rett Syndrome

Rett Syndrome (RTT) is a severe childhood neurological disorder, diagnosed almost exclusively in girls. The most physically disabling of the autism spectrum disorders, RTT strikes at random, affecting an estimated 1 in every 10,000 females.

First symptoms usually appear between 6 to 18 months of age. Development slows or begins to regress. Children at this stage may exhibit the social withdrawal often seen in autism, or cry inconsolably for months as previously acquired language and motor skills disappear. In classic RTT, this regression is accompanied by the onset of constant, compulsive hand wringing and the loss of all functional hand use. The progression of symptoms varies across the RTT spectrum. Many children become wheelchair bound; those who walk display an abnormal stiff-legged gait.

As the disease progresses, abnormal voluntary and involuntary movements reflect increasing neurological deficits. The children suffer apraxia, the inability to organize voluntary movement. Parkinson-like tremors are common, as are disordered breathing patterns and problems with chewing and swallowing. Some children require feeding tubes or supplementary oxygen. Abnormal brain wave patterns are present in RTT; a percentage of the children experience seizures.

The only autism spectrum disorder with a known genetic cause, RTT results from mutations in the gene MECP2. This gene was first discovered by Adrian Bird, Ph.D in 1990. MECP2 regulates the expression of other genes by turning them off at the appropriate time.

Mutations in MECP2 were identified as the cause of RTT in 1999 in the lab of Huda Zoghbi, M.D. MECP2 mutations are now being seen in some cases of childhood schizophrenia, classic autism and learning disabilities.

About the Rett Syndrome Research Foundation (RSRF)

RSRF was created in late 1999 and is the largest private source of funds for biomedical research on Rett Syndrome.

RSRF organizes and sponsors the premiere scientific symposium on the disorder, gathering researchers and clinicians from around the world to exchange the latest information and set new research directions.

The Foundation channels 97% of donations to program services, earning a four star "exceptional" rating from the independent watchdog Charity Navigator.

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