Free Online Database Of Diseases, Illnesses & Ailments


Rett Syndrome

Rett Syndrome Causes

Rett syndrome develops as a consequence of sporadic mutations in the MECP2 gene, which is located on the X chromosome. It almost invariably occurs in females; as affected male fetuses rarely survive to term.

Rett Syndrome Definition

Rett syndrome is a neurodevelopmental disorder mostly affecting females. This disease is categorized as a pervasive development disorder by the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders).

Rett Syndrome Diagnosis

Rett's syndrome is often misdiagnoses as autism. However, a period of close observation of associated symptoms will confirm the disease. Standard diagnostic criteria are also used in diagnosis.

Rett Syndrome Symptoms and Signs

Rett syndrome presents with symptoms that are very similar to Angelman syndrome and autism. Infants affected with this disease generally develop normally until their 6th to 18th month. At this point, the rate of neurological development plateaus, followed by regression of previously acquired skills. Common indicative signs include small hands and feet in afflicted infants, as well as a deceleration of the rate of head growth. In some cases, microcephaly was also observed. In addition, affected patients may exhibit stereotypic and repetitive hand movements; e.g. wringing and/or mouthing. In most cases, patients demonstrate cognitive impairment and problems with socialization, especially during the regression period. Growth impairment, scoliosis, and constipation may also pose problems. Rett syndrome in females often leads to gastrointestinal disorders and seizures, and even an absence of verbal skills. Roughly half of documented female patients are not ambulatory.

Rett Syndrome Treatment

To date, there is no known cure for Rett syndrome. However, recent research efforts are directed towards developing a solution with gene therapy. Current modes of treatment are focused on alleviating symptoms, including surveillance of scoliosis, monitoring long QT syndrome, management of gastrointestinal and nutritional problems, speech therapy, sleeping aids, anti-psychotic medication, and sometimes beta-blockers. Parental counseling is also offered to help parents cope with the disease.

Most Viewed Pages

Recent Searches

Our Visitors Ask About

Medical News