Defining Rett Syndrome
What is Rett Syndrome?
Rett syndrome is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene that interfere with its ability to generate a normal gene product. Rett syndrome occurs worldwide in approximately one of every 10,000 to 15,000 female births and in the United States impacts 6,000 to 9,000 patients.
Symptoms and Effects
What are the symptoms and effects?
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. Typically, with symptoms presenting between 6 to 18 months of age, patients experience a period of rapid decline with loss of purposeful hand use (fine motor skills), development of hand stereotypies, absent or impaired mobility (gross motor skills), loss of communication skills (including eye contact) and inability to independently conduct activities of daily living. Symptoms also include seizures, disorganized breathing patterns, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.
Rett Syndrome: A Severe, Debilitating Neurological Disorder
Note: All seizure types have been reported in Rett syndrome. Complex partial and generalized tonic-clonic are the most common
Sources: 1 RettBase (http://mecp2.chw.edu.au/); GnomAD (https://gnomad.broadinstitute.org); NOMAD; 2 National Institutes
of Health – National Institute of Neurological Disorders and Stroke; 3 International Rett Syndrome Foundation; 4 Operta et al.,
Brain Behav 2019
