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RETT SYNDROME

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WHAT IS RETT SYNDROME?

Rett syndrome is an extremely rare neurological disorder caused by mutations in genes. It is a progressive disorder that generally affects females and is the rarest of rare case in males.

Rett Syndrome is so rare and so most of the people have not even heard about it. It is not hereditary so it can happen to anyone.

Some people say that rett syndrome is a combination of autism and cerebral palsy, muscular dystrophy and pretty much all in one.

Although they have full capacity of understanding language, independence of thought, however, all this is only in their head and they fail to voice it out. Thus, children affected by the rett syndrome exist as human beings with emotions, thoughts and ideas that are completely separate from the challenges faced by them due to rett syndrome.

Rett syndrome overlays and may cloud to change their performance but it cannot change what they are on the inside.

WHAT ARE THE CAUSES OF RETT SYNDROME?

Rett syndrome is mostly caused by the genetic mutation of MECP2 GENE on the X-Chromosome. There are said to be 8 different “hotspots” at which these mutations are found since more than 900 mutations are found in the gene MECP2

HOW RARE IS RETT SYNDROME?

Rett syndrome occurs in ‘1 in every 10,000 female births’ worldwide. In men, it is ever rarer.

WHAT ARE THE SYMPTOMS OF RETT SYNDROME?

The symptoms of rett syndrome typically appear in toddlerhood.

Following are the challenges faced by children affected with rett syndrome:

  • Seizures
  • Breathing issues
  • Hand wringing
  • Loss of motor skills
  • Loss of mobility
  • Loss of speech
  • Severe digestive issues
  • Extreme anxiety
  • Sleep disturbances
  • Fragile bones
  • Poor posture
  • Lack of communication
  • Teeth grinding
  • Parkinsonion tremor
  • Repetitive hand movements

Not all the symptoms listed above are present in every individual affected by rett syndrome. Hence, it is crucial to talk to one’s doctor about specific case of the individual, the associated symptoms and prognostic part.

HOW IS RETT SYNDROME DIAGNOSED?

Again, it depends on individual’s overall pattern of the disease. The diagnosis is made based on the observation of a doctor.

Since it is an extremely rare syndrome, doctors rule out other similar condition first; like autism, cerebral palsy, etc.

Genetic testing confirms the diagnosis and also shows the severity of rett syndrome.

WHAT IS THE TREATMENT OF RETT SYNDROME?

It totally depends on the location, type, and the degree of severity of the rett syndrome. The progression and symptoms of rett syndrome can have a dramatic difference from person to person.

In a research, scientists succeeded in reversing the rett syndrome in the lab in mice. Hence, there is tremendous hope to find a cure for it.

Although there is no cure for it yet, a treatment plan is nevertheless derived by doctors to improve the life quality of the patients. They include:

  • Physical therapy
  • Speech therapy
  • Behavioral therapy
  • Supportive services
  • Standard medical care
  • Good nutrition