Speech Therapy

What Is Retts Disease? – Causes, Symptoms, And Treatments

It is a neurological disorder of the brain and it affects the normal development of it. Girls are the most affected by it and the occurrence of it is as high as 1 girl in every 10,000 to 22,000. Retts Disease is caused by the mutation of certain genes responsible for the normal growth of the nervous cells. This disorder affects a child’s ability to learn, communicate, coordinate, and develop normally.

Causes Of The Retts Disease:
In more than 99% of the cases mutation of some genes is the main cause for this syndrome and it affects girls more than boys. A gene called MECP2 is responsible for the production of a protein that regulates and controls the normal function of the brain and it connects different nerve cells. Any change or alteration in this gene results in disruption of the normal function of the brain and nerve cells and results in the syndrome. The protein produced by this gene is also essential in other functions like regulating and shutting certain genes when not needed.

Mutations of other genes like CDKL5 too play an important role in this disorder.

It is not a hereditary disease and is not passed through generations, though in some rare cases it was witnessed. It is not a major factor.

Symptoms:
Following are the signs of this neurological disorder which should help parents identify and understand the signs of the syndrome even before they are evident. This would not only prepare the parents, but also give them edge in terms of time and can consult an expert and start the treatment at the earliest.

  • Slow development of the child when compared to other kids of the same age.
  • Small head.
  • Curved spine.
  • Physically and mentally the baby is not grown as it should be.
  • Body balance, coordinating movements, and motor skills are difficult.
  • Reduced hand movements.
  • Impaired and minimum or no walking and crawling. They are mostly bed ridden.
  • These babies avoid eye contact, speaking, and interacting with others.
  • They prefer to be alone and are not interested in people or things around.
  • They prefer to play with one or two toys only.
  • Flapping of hands, clapping, etc are some of the only hand movement patterns they develop.
  • The muscle tone of these kids is very weak.
  • They have a problem of grinding teeth.
  • Face difficulty in swallowing food.
  • Have breathing problems. Heart palpitations, short breath, or holding it back etc.
  • Speaking ability is lost slowly.
  • Poor health and poor gastrointestinal condition.

Treatments:
Unfortunately, there is no cure for the syndrome but many treatments aim at reducing the severity of the symptoms and also in some cases reverse them partially. Following are some of the therapies, and other mode of treatments for the disease.

  • Speech therapy to improve the communication abilities.
  • Physical therapy or physiotherapy is aimed at improving and strengthening muscle tone, bodily functions and movements and flexibility of limbs for coordination, balance, etc.
  • Nutritional and physical management or treatment to improve overall health, to strengthen the body, to address the problem of poor weight, and also to treat the gastrointestinal problems.
  • Treatments directed at improving the breathing process, heart palpitations, and other related issues.
  • Medication to induce sound sleep, and also to relax the child and prevent him/her from self-harming.

These are some of the retts disease causes, symptoms, and treatments available. Instead of losing hope, parents should consult a doctor at the earliest and prevent and minimize the possible damage. Join a support group, meet other parents to understand the syndrome better and face the situation patiently.

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