Rett Syndrome

All about Rett syndrome

Rett syndrome is a neurodevelopmental disorder of gray matter .

Clinical features include small hands and feet and a slowdown in the growth rate of the head (microcephaly reaching in some cases). This syndrome is important because it tends to be confused with Angelman syndrome.

Some argue that is classified as an autism spectrum disorder, but appears under the broad category of Pervasive Developmental Disorders in the DSM V.

Causes of Rett

syndrome Rett syndrome is caused by mutations in the MECP2 gene on the X chromosome and may occur sporadically or from mutations in the germline (inherited) .

At least 10% of cases are caused by mutations in genes CDKL5 or FOXG1, so MECP2 is not alone.

Features Rett

The syndrome is typically normal development until 6-18 months, when language and motor development is lost, and acquires a slowdown in the growth rate head.

The stereotypes of the hand are typical, and breathing irregularities such as hyperventilation or breath held, are in many cases.

At first, a behavior autism can be. An infant with Rett syndrome often prevents their diagnosis to 6-18 months, due to a relatively normal appearance and some progress in development. . However, a closer examination reveals not so easy to diagnose abnormalities

Other symptoms of Rett syndrome are:

Excessive crying

Panic attacks

Avoidance of eye contact

Lack of social interaction

General lack of interest

Loss of expression

Issues coordination

Difficulty swallowing

hypotonia

Difficulties with movimientos

Ataxia

Microcefalia

Espasticidad

Corea

Bruxismo

Tratamiento Rett syndrome

 

Currently there is no cure for Rett syndrome, but studies have shown that the restoration of the MECP2 function may lead to a cure
A promising area of ​​research is the use of insulin-like growth factor (IGF-1)

Treatment of Rett syndrome includes:

 

The management of gastrointestinal (reflux, constipation) and nutritional problems (weight gain).

Monitoring scoliosis.

Cardiovascular Management (long QT syndrome) .

Increase patient skills, communication, especially with alternative communication strategies (occupational therapy, speech therapy, physical therapy and occupational therapy, speech therapy and physical therapy).

Advice to parents.

selective reuptake inhibitors (SSRIs).

Anti-psychotics (for self-harming behaviors).

These measures are available today for Rett syndrome

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Tidligere:Choking, et problem som krever rask handling

Neste:Artrose

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