Road Closure at 801 Broadway Parking Garage
Effective June 18, 2014 - Road closures will block regular access to our Broadway parking garage. Please allow more time for travel to your appointment.
Detour Route and more information.
Find A Specialist
Resource Finder at Kennedy Krieger Institute
A free resource that provides access to information and support for individuals and families living with developmental disabilities.
To find patient care programs and faculty treating Rett Syndrome at Kennedy Krieger Institute, as well as research investigating this disorder, please see the right-hand column below. Additional helpful information, including definitions, symptoms, Institute press releases, Potential magazine articles, and other resources outside the Institute, have also been provided for readers on this page.
Rett Syndrome Overview:
Rett Syndrome (RS) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay. This disorder is caused by a defective regulatory MECP2 gene found on the X chromosome, and is seen almost exclusively in females. Unlike females, who have two X-chromosomes, males have an X and a Y chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a defective one, mutations in MECP2 are lethal to the male fetus. This is why RS is found overwhelmingly in females. Rett Syndrome occurs in a variety of racial and ethnic groups worldwide, and is now known to occur from one in every 10,000 to one in every 23,000 female births, but incidence may be far greater as new genetic evidence is discovered.
Development appears normal until 6-18 months of age, followed by loss of acquired speech and hand skills, slowing of head growth and development of stereotyped repetitive hand movements (i.e., handwashing, hand wringing, hand tapping, hand clapping and hand mouthing), loss or difficulty with mobility. Stereotyped hand movements may change over time, and additional problems may include seizures, breathing irregularities (hyperventilation and apnea), teeth grinding and curvature of the spine (scoliosis). Approximately 99.5 percent of RS cases occur only once in a family. Barring illness or complications, survival into adulthood is expected.