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. 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
- anti-psychotics (for self-harming behaviors)
- beta-blockers rarely for long QT syndrome
- Occupational therapy, Speech therapy and physical therapy are used to treat children with Rett syndrome.
There is an association of the disease with brain-derived neurotrophic factor (BDNF).
The challenge of developing therapies for MECP2 disorders
The recent studies (funded by the International Rett Syndrome Foundation) demonstrating that neurological deficits resulting from loss of MeCP2 can be reversed upon restoration of gene function are quite exciting because they show that neurons that have suffered the consequences of loss of MeCP2 function are poised to regain functionality once MeCP2 is provided gradually and in the correct spatial distribution. This provides hope for restoring neuronal function in patients with RTT. However, the strategy in humans will require providing the critical factors that function downstream of MeCP2 because of the challenges in delivering the correct MeCP2 dosage only to neurons that lack it, given that the slightest perturbation in MeCP2 level is deleterious. Thus, therapeutic strategies necessitate the identification of the molecular mechanisms underlying individual RTT phenotypes and picking out the candidates that can be therapeutically targeted.
The next phase of research needs to assess how complete the recovery is. Clearly, lethality, level of activity, and hippocampal plasticity are rescued, but are the animals free of any other RTT signs such as social behavior deficits, anxiety, and cognitive impairments? Since postnatal rescue results in viability, it will be important to evaluate if even the subtler phenotypes of RTT and MECP2 disorders are rescued when protein function is restored postnatally. This is particularly important given emerging data about early neonatal experiences and their long-term effects on behavior in adults.
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