Rett syndrome is a rare yet severe neurological disorder that affects mostly young girls. Usually, this disorder is detected within the first two years of life.

Even though there is no permanent cure for this disorder, early diagnosis and treatment can help the affected girl and families. In the past, Rett syndrome was considered to be a part of autism spectrum disorder. Later, it was discovered that Rett syndrome is mostly genetically driven.

Symptoms of Rett Syndrome

The symptoms of Rett syndrome are not usually visible during first 6 months after birth. Most of the symptoms are shown between 12 to 18 months. Some of the common signs of the health disorder are as follows.

  • Difficulty with Hand Movements – Most of the affected children will lose their ability to use their hands. The usually tend to rub or scrunch their hands together.
  • Retarded Growth – The brain of children, who are affected by Rett syndrome, will not develop properly. As a result, their heads will be comparatively small, which is termed as microcephaly. As the child gets older, the retarded growth will become more visible.
  • Language Troubles – The language and social skills of affected children will start declining between the ages of 1 to 4. Eventually, they will stop talking to others and will exhibit social anxiety.
  • Breathing Problems – A child with Rett syndrome will show many breathing troubles and experience seizures, which includes forceful exhalation of air or saliva, very fast breathing or hyperventilation, gasping for air, etc.
  • Muscles and Coordination Issues – Affected children show issues with their muscle movements as well as the coordination. This will make it difficult for them to walk.

The main reason for Rett syndrome is the mutation of X chromosome. However, it is not yet discovered how this mutation of X chromosome results in Rett syndrome. Note that the symptoms of Rett syndrome will not fade away with time, unlike some other disorders. In fact, it will worsen or will remain as such.

Even though Rett syndrome is genetic, children will not inherit this damaged gene from their parents; instead, the mutation will happen in their DNA. Rarely, Rett syndrome is seen in boys. Such boys will hardly live past their birth because they have only one X chromosome, unlike girls. So, the diseases that affect them will be more severe and fatal.

Diagnosis and Treatment

The primary diagnosis is done by checking the symptoms. Usually, the doctors will confirm the disorder only after they rule out all other disorders like autism, cerebral palsy, prenatal brain, etc., as Rett syndrome is rare. Another diagnosis method, genetic testing, typically confirms the disorder 80% and predicts the severity of the syndrome.

Some of the treatments used to improve the Rett syndrome symptoms are as follows.

  • Occupational therapy
  • Physical therapy
  • Behavioral therapy
  • Good nutrition
  • Standard medication
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    About the Author

    Dr. Ghassan M. Al-Jazayrly, MD

    A graduate of University of Aleppo Faculty of Medicine, Dr. Al-Jazayrly or, as he is colloquially known: Dr. AJ, is an oncologist and hematologist of a Complete Care Community Health Center (CCCHC) with more than 36 years of experience. In recent years, he’s been involved with a non profit organization known as Every Woman Counts (EWC) which provides free breast and cervical cancer screening and diagnostic services to California’s underserved populations in order to eliminate health disparities for low-income individuals.

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