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What is Rett syndrome and how can it be treated?

Q: My five years old daughter has been diagnosed with Rett syndrome. She can neither walk independently nor talk. There is no purposeful use of hands. All her activities are assisted. How can Rett syndrome be treated? Are you aware of any successful treatment of Rett syndrome with stem cells?

A:Rett syndrome is a developmental brain disorder affecting girls, due to a genetic defect. It is characterised by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, convulsions and intellectual disability.

The symptoms vary from child to child. Initially the child grows normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in hand / leg movements. After some time, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.

Apraxia (inability to perform certain tasks / actions) is perhaps the most severe and disabling feature of Rett syndrome, interfering with every body movement, including eye movements and speech.

Children with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.

Unfortunately there is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and anticonvulsant drugs may be used to control seizures. There should be regular monitoring for scoliosis and possible heart abnormalities. Occupational therapy can help children develop skills needed for performing self-directed activities (such as dressing, feeding, and practicing arts and crafts), while physical therapy and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases.

Most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. It is estimated that there are women in their 40s and 50s with the disorder.

More information can be obtained at this link: http://www.ninds.nih.gov

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