Research funded by the National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health include projects to better understand the cause of Rett syndrome, develop new therapies to manage specific symptoms, and provide better methods of diagnosis. NINDS researchers are examining the underlying mechanisms in the brain that contribute to the development and progression of Rett syndrome and how they can be reversed. This research will also help design new therapies for Rett syndrome and other disorders that share similar cellular mechanisms, including autism. Other researchers are evaluating the ability of several new drugs to reverse neurological symptoms in an animal mode of the disease. Other NIH-funded research hopes to identify biomarkers—signs that may help diagnose or monitor the progression of a disease—that will predict which types of symptoms will develop as people with Ret syndrome age. Researchers also are looking at the genetics of the disease, how to compensate for the malfunctioning MECP2 gene that causes the disorder, and to identify other genes that may be involved in Rett syndrome.
Rett syndrome is a rare childhood neurological and developmental disorder that almost exclusively affects females. Infants appear to develop normally for the first several months before development stalls (typically between the ages of 6-18 months). Early symptoms include:
• loss of muscle tone
• slowing of development
• difficulty feeding
• jerkiness in arm and leg movement
• reduced eye contact and eye gaze.
The child then begins to lose or have regression of previously gained skills, including:
• the ability to socialize and speak
• purposeful use of the hands
• the ability to walk.
Other symptoms may include:
• slowed growth
• intellectual disabilities
• problems with breathing
• scoliosis (curvature of the spine)
• behavioral problems.
Symptoms usually stabilize between ages 3-5 years. Social interactions continue to improve into adulthood but motor function and movement gradually decline and muscles become increasingly weak.
There is no cure for Rett syndrome. Treatment focuses on the symptoms of the disorder, along with supportive care. Medications may ease breathing irregularities, movement difficulties, and seizures. Occupational therapy can help children develop skills needed to perform activities such as dressing and feeding. Physical therapy and other forms of therapy may prolong mobility. Some children may require special equipment such as braces to treat scoliosis, splints to modify hand movements, and nutritional programs. Special academic, social, vocational, and support services may be needed in some instances.
The course of Rett syndrome, including the age of onset and severity of symptoms, varies from child to child. Despite the difficulty with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, more information is needed to assess long-term prognosis and life expectancy.