Rett Syndrome - Diagnosis And Treatment

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Rett Syndrome - Diagnosis And Treatment
Rett Syndrome - Diagnosis And Treatment

Video: Rett Syndrome - Diagnosis And Treatment

Video: Rett Syndrome - Diagnosis And Treatment
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Rett Syndrome

The Viennese doctor Dr. Andreas Rett (1924–1997) first described the syndrome in 1966, which was then named after him. Rett syndrome (RTT) is a rare disease that, genetically, leads to a developmental disorder of the central nervous system. In the classic form, only girls are affected. These typically unlearn already acquired linguistic and fine motor skills and show severe cognitive impairment, motor stereotypes and gait difficulties…

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Cause & course

Most patients have genetic changes (mutations) in the MECP2 (methyl CpG binding protein 2) gene. However, the exact origin of the disease and the way in which the MECPs gene and MECP2 protein function are not yet fully understood. The MECP2 gene is on the X chromosome. Girls have two X chromosomes, boys one X and one Y chromosome. Therefore, male newborns are much more severely affected or are often not viable. The risk of repetition for subsequent siblings is less than 0.01 percent.

The course and severity of the disease can be very different and also deviate from the conventional symptoms (atypical Rett syndrome). In the first year of life, the girls usually show no developmental abnormalities.

In the phases of stagnation and regression, brain and head growth slows down. Skills that have already been learned are forgotten. In this phase the diagnosis is usually made. This is followed by a plateau phase that lasts for years, a "relative stabilization". After that, there is usually a slowly progressive deterioration in motor functions. You can find more information about the course and a precise description of the stages of the disease on the homepage and in the folder of the Austrian Rett Syndrome Society at www.rett-syndrom.at

Symptoms

The main symptoms that can indicate Rett syndrome include:

  • Fine motor skills that have already been learned, such as targeted gripping, are no longer possible.
  • Instead, motor stereotypes (repetitive hand movements such as “washing your hands”, clapping or biting your hands) occur.
  • Some girls with RTT do not learn to walk freely; for many, walking becomes increasingly difficult as they age.
  • Language development is often delayed from the start, and language utterances that have already been learned are lost. Often the language is completely absent.

In addition, sleep and breathing disorders, bruxism, scoliosis, circulatory disorders of the hands / feet and regulation disorders of the muscle tone (hypotonia / decreased muscle tone, spasticity) can occur. The risk for those affected to suffer a life-threatening cardiac arrhythmia with a so-called prolonged QT interval is increased. Epileptic seizures are a common problem in most girls, especially in the first two decades of life.

diagnosis

Pointing the way to the diagnosis of Rett syndrome are the aforementioned gradual course with the loss of fine motor and language skills already acquired and the symptoms of the disease. If Rett syndrome is suspected, a genetic test is done, which can confirm it in more than 90 percent of cases. In a few cases, despite extensive genetic tests, there is no change, but if the clinical criteria are present, the term Rett syndrome is used. MRI, EEG and metabolic examinations show no specific changes, especially in the early stages. Few other genetic syndromes such as Pitt-Hopkins syndrome can produce a similar clinical picture.

therapy

Treatment is symptom-oriented in consultation with the pediatrician. The focus is on maintaining and improving motor functions and promoting non-verbal (e.g. facial expressions, gestures) communication.

The therapeutic measures include physiotherapy, occupational therapy, speech therapy and music therapy. Particular attention should be paid to the appropriate pre-school and school support in competent institutions familiar with developmental disorders. Drug treatments are necessary for epileptic seizures and sleep disorders, and dietological support for those who do not gain weight. An important pillar of care is orthopedic care with regard to joint misalignments and the development of scoliosis, including surgical options.

Attention should be paid to adequate social and psychological support for families in order to better cope with the situation in everyday life.

Whom can I ask?

If you observe developmental abnormalities or any of the other symptoms described in your child, do not hesitate to consult a pediatrician. He / she will initiate further diagnostic steps via a special outpatient clinic for neuropediatrics or outpatient clinics for developmental neurology.

How are the costs going to be covered?

All necessary and appropriate diagnostic and therapeutic measures are taken over by the health insurance carriers. In the case of certain services (e.g. inpatient stays, therapies in the private practice area, aids and medical aids) - depending on the health insurance provider - patient co-payments are provided. For more information, see Costs and Deductibles.

The prescription fee has to be paid for medication on a “prescription”. A head physician's approval may be required for certain medications or examinations. For certain non-drug treatments - in some cases only when a certain level has been reached - approval from the health insurance provider may be required. For information on the respective provisions, please contact your health insurance provider, which you can find on the social security website.

Additional Information:

  • Rett Syndrome (Orphanet)
  • Austrian Rett Syndrome Society

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