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A main task for the physiotherapist at the Swedish Rett Center is to document and report successful treatment. This report shows the possibility to regain function, get variation and avoid contractures for several years. A thorough neurologic, orthopaedic and physiotherapeutic assessment and analysis is essential. We stress the importance of keeping the feet in good position, using surgery and well fitting orthoses when needed, making standing possible and for some persons, walking. For the effect of treatment the following factors were of vital importance: the expectations of the persons treating the girl/woman – what they believed she could do, the motivation of the girl/woman herself, a joint plan for intervention including everyone involved, and well educated personnel, well informed about Rett syndrome – its problems and possibilities.

A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.

The aim of this study was to investigate orthostatic reactions in females with Rett syndrome (RTT), and also whether the severity of the syndrome had an impact on autonomic reactions. Based on signs of impaired function of the central autonomic system found in RTT, it could be suspected that orthostatic reactions were affected. The orthostatic reactions in 21 females with RTT and 14 normally developed femalesmatched by age were investigated when they rose from a sitting position, and during standing for 3 min. Reactions of the heart, the blood pressure and the time for recovery of systolic blood pressure, were studied in real time, heartbeat by heartbeat, simultaneously. There was no difference between participants with RTT and the normally developed controls regarding general orthostatic reactions (heart rate, systolic and diastolic blood pressure, and mean arterial pressure) when getting up from a sitting position, and when standing erect for 3min. In the specific immediate response by the heart to standing up, the 30:15 ratio, significantly lower values were found for females with RTT. In the RTT group, the maximum fall of systolic blood pressure showed a tendency to a larger decrease, and the initial decrease in systolic blood pressure was significantly faster. The time for recovery of systolic blood pressure from standing erect did not differ between groups. At baseline the females with RTT had significantly lower systolic blood pressure and a tendency to a higher heart rate. The results do not indicate any autonomic limitations for people with RTT in getting up from a sitting position and standing. The participants with RTT had normal orthostatic reactions indicated by the heart and blood pressure responses when standing erect for 3 min. A faster initial drop in systolic blood pressure in people with RTT was notable.