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.
Children 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. Rehabilitation medicine can help manage symptoms by prescribing therapies, medications, braces, or equipment to maximize function.
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.
NIH: National Institute of Neurological Disorders and Stroke