Rett Syndrome

Rett syndrome is a rare neurological disorder that usually occurs in girls. It was first described in 1966 by Andreas Rett, a pediatric neurologist in Vienna. Rett syndrome is characterized by a reversible constellation of symptoms that usually begin between the ages of 6 and 18 months, despite the normal progression of neurological development. The main cause of this syndrome is mutations in the MECP2 gene on the X chromosome. Children with Rett syndrome develop normally before the onset of their symptoms. However, once symptoms begin, their mobility begins to decline and they start to exhibit stereotypical behaviors, such as constantly rubbing their hands and making circular movements. They also tend to lose motor skills such as turning their head, sitting and walking. Language skills are also lost and they often make meaningless words or sounds. Social skills may also decline and, in some cases, epileptic seizures and breathing problems may occur. The symptoms of Rett syndrome can vary according to the severity of the symptoms, age and the individual. However, the main features of this syndrome are usually similar. Other symptoms may include changes in muscle tone, scoliosis, gastrointestinal problems and epilepsy. Because Rett syndrome is a genetic disorder, there is no cure. However, there are several different approaches to managing symptoms. Physiotherapy can help improve motor skills, while therapy and special education can help improve language skills. Medicines can be used to control epileptic seizures and ventilators can help if there are breathing problems. Families of children with Rett syndrome may face a special journey to cope with the syndrome. This journey is full of worry, stress and challenges. However, there are also many resources and groups where families can get support. For example, various organizations, such as the Rett Syndrome Foundation, can provide information and support to families. Rett syndrome is a rare neurological disorder that has a genetic basis and is not yet curable. However, there are different approaches to symptom management. There are many challenges for children with Rett syndrome and their families, but support groups and organizations can help families. With scientific research continuing, perhaps one day a cure for Rett syndrome will be found.


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