Rett Syndrome

A neurological disorder, first described in 1964 and seen almost exclusively in females, has revealed a new class of genetic disease. Dr. Andreas Rett, an Austrian physician, first diagnosed Rett Syndrome in 1964, but the significance of his work went virtually unnoticed until 1983 with the first English translation of his findings.

Females with Rett Syndrome (RS) have normal development until 6-18 months of age, followed by loss of speech, loss of functional hand use, stereotyped repetitive hand movements, and loss of mobility. Additional complications may include seizures, breathing irregularities, and scoliosis. RS is often misdiagnosed as cerebral palsy, autism, or unidentified developmental delay. It is pan-ethnic, involving various racial and ethnic groups. The prevalence rate is 1:10,000 to 1:23,000 female births, but it is believed that the incidence is far greater due to misdiagnosed or undiagnosed cases.

The genetics of RS is very complicated but is generally believed to be caused by a defective gene on the X chromosome. The gene for RS is called MECP2 and was discovered in 1999 through research efforts at Baylor College of Medicine and Stanford University. MECP2 codes for a protein that is involved in regulating gene expression. A defective MECP2 protein could result in genes being activated at inappropriate times during development.

Survival into adulthood is expected if there are no severe illnesses or complications. Because RS appears to be caused by new mutations to the gene, it is believed that recurrence risks in a family are less than 1%.

Of particular interest is the fact that one of the leading researchers and experts on RS is Carolyn Schanen, M.D., Ph.D., daughter of Dr. and Mrs. Giles Schanen of Greenwood, South Carolina. Much of this information is taken from an article written by Dr. Carolyn Schanen. The Greenwood Genetic Center’s molecular laboratory, under the direction of Dr. Mike Friez, provides MECP2 testing for families from throughout the country.

Additional information on education, treatment, and support resources can be found on the web-site for the International Rett Syndrome Association at www.rettsyndrome.org.