Management strategy

Early diagnosis to avoid prolonged medical uncertainty is the primary aim. A genetic search for mutation in the MECP2 gene in infants with unexplained developmental slurring is recommended.
Routine tests for mutation analysis are now available in the National Health Service in the United Kingdom, Rett Expertise Center of the Maastricht University Medical Center and other health services in Europe. This requires awareness by health visitors and Paediatricians in community practices. Characterisation of the clinical phenotypes of cardiorespiratory dysfunctions is recommended at the beginning of the exacerbation of the brainstem features. This requires awareness by General Practitioners, Paediatricians or Child Neurologists who are likely to be confronted initially with this problem. Each of the three cardiorespiratory phenotypes; Apneustic, Feeble and Forceful breathers has a unique management strategy of the brainstem features.