What is Rett Syndrome?

Rett Syndrome is also known as Retts  Disorder,  was first described by Austrian neurologist Andreas Rett in 1966,  is a neurodevelopmental disorder that is classified as a pervasive developmental disorder.

Rett Syndrome is a unique development disorder which begins in early infancy, seen almost exclusively in girls. It is found in a variety of racial and ethnic groups throughout the world. The child with Rett Syndrome is usually born healthy and shows an early period of apparently normal development until 6-18 months of life, when there is a slowing down or stagnation of skills.

A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns which occur when she is awake. There may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, while other symptoms, decrease or improve.

The symptoms of Rett includes cognitive impairment and problems with socialization, during the weakening period.Socialization typically improves by the time they enter school. Scoliosis, growth failure and constipation are very common and can be problematic.

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What are the Causes of Rett Syndrome?

Rett Syndrome is caused by mutations in the gene located on the X chromosome and can arise from germline mutations. It is usually caused 95% or more mutation in the child and not inherited from both parents. Parents are generally genotypically normal.

In sporadic cases of Rett syndrome, it is thought that the mutated MECP2 (methyl-CpG-binding protein-2) is usually derived from the male copy of the X chromosome. It is not yet known what causes the sperm to mutate,for such mutations are rare.

In germ line mutations, it can also be inherited from phenotypically normal mothers who have a germline mutation in the gene .An atypical form of Rett syndrome, characterized by infantile spasms or early onset epilepsy.Rett syndrome affects one in every 12,500 female live births by age 12 years.

Rett syndrome almost exclusively affects girls — male fetuses with the disorder rarely survive to term. Development is typically normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired deceleration in the rate of head growth is seen. Hand stereotypies are typical and breathing irregularities such as hyperventilation, breathholding, or sighing are seen in many. Early on, autistic-like behavior may be seen.

What are the Treatment and Prognosis?
For now there is no cure for Rett syndrome, but studies have shown that restoring MECP2 function may lead to a cure.One area of research is in the use of Insulin-like Growth Factor which has been shown to partially reverse symptoms in MeCP2 mutant mice. Such a treatment works because the neuronal cells have not atrophied, but rather are in an immature state.

Treatment of Rett syndrome includes:

* management of gastrointestinal (reflux, constipation) and nutritional (poor weight gain) issues
* surveillance of scoliosis and long QT syndrome
* increasing the patient’s communication skills, especially with augmentative communication strategies
* parental counseling
* modifying social medications
* sleep aids
* SSRIs
* anti-psychotics (for self-harming behaviors)
* beta-blockers rarely for long QT syndrome
* Occupational therapy,Speech therapy and Physical therapy are use to treat child with Rett syndrome


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