Rett Syndrome - Treatment and Prognosis

Treatment and Prognosis

Currently 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 1 (IGF-1), which has been shown to partially reverse signs in MeCP2 mutant mice.

Another promising area of therapeutic intervention is to counter the neuroexcitotoxic effect of increased spinal fluid levels of a neurotransmitter called glutamate and increased NMDA receptors in the brain of young Rett girls, by the use of dextromethorphan, which is an antagonist of the NMDA receptor in those below the age of 10 years. 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
  • selective serotonin reuptake inhibitors (SSRIs)
  • anti-psychotics (for self-harming behaviors)
  • beta-blockers rarely for long QT syndrome
  • occupational therapy, speech therapy and physical therapy (for children with Rett syndrome).

There is an association of the disease with brain-derived neurotrophic factor (BDNF).

Read more about this topic:  Rett Syndrome

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