The chronology of uncertainty

Babies with RTT are born apparently normal. Developmental slurring in the first or second year of life may catch medical attention, but without obvious physical signs, these children are often missed by General Practitioners and Paediatricians alike at the early stage of the disorder. Full descriptions of the clinical stages of Rett syndrome are given elsewhere.

A regression stage generally appears in the second year of life but may appear as late as the fifth year and is characterised by exacerbation of the brainstem features. The unique sympatho-vagal imbalance gives a misleading clinical impression of a sympathetic hyperactivity in RTT. There is also a lack of integrative inhibitions that prevent appropriate cardiovascular regulations during abnormal breathing with increased risks of adverse cardiorespiratory events. As a result, brainstem features are one of the major reasons for seeking medical attention in RTT starting from childhood and continuing throughout life.

There are also symptoms of multi-organ involvement due to metabolic, mostly acid-base imbalance caused by cardiorespiratory turmoil. This will draw in more medical specialties like cardiologists, anaesthetists, respiratory physicians, endocrinologists and nutritionists. By now it is evident that the care for people with RTT is multi-disciplinary and requires cross-professional collaboration.