Rett syndrome, motor development, mobility and orthostatic reactions: loss of function, difficulties and possibilities
2013 (English)Doctoral thesis, comprehensive summary (Other academic)
Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. Research on motor function has to some extent focused on this loss, and less on the possibility to keep, regain or develop abilities. RTT is mainly verified in girls/women, and the prevalence of classic RTT in Sweden for girls born between 1965 and 1976 was 1 in 10.000-12.000. Clinical criteria are used for diagnosis, but since 1999 RTT can be confirmed by a genetic test. As there is no cure so far, development of clinical intervention and management is important, and with good treatment it is possible to improve quality of life.
The main aim was to acquire more knowledge about motor development in RTT, both, early development, and development over time. Another aim was to study if there were deviating orthostatic reactions when rising from sitting to standing, and during standing, compared with normally developed, healthy people, matched by sex and age.
Clinical experience as well as reports from parents showed that some people with RTT had lost abilities, some had been able to keep abilities, and some had been able to learn new abilities after regression. For good results, the person with RTT had to be motivated, and the intervention jointly planned; it was also important to realize that dyspraxia causes dependence on other people’s initiatives. Information about one person with RTT, collected over several years, showed the possibility to develop in some areas over time and the tendency to deteriorate in other areas. Studying orthostatic reactions when rising to standing, and standing for three minutes, revealed that those with RTT mainly had the same reactions as the healthy controls. The quicker initial drop in systolic blood pressure in people with RTT, when rising, has not been documented earlier.
In conclusion, this thesis shows that it is possible for some people with RTT to keep abilities, regain abilities, and also learn new abilities after regression. Since those with RTT recovered their blood pressure in the same way as the healthy controls, there is no reason to recommend limitations in standing, though the quicker initial drop in systolic blood pressure should be noted. The deterioration in walking found in our previous studies does not seem to be due to deviation in orthostatic reactions. Individual analysis, as well as good knowledge about the development of the disorder and variation in its expression, is essential. Since many people with RTT live to adulthood, planning for lifelong intervention and care is most important.
Place, publisher, year, edition, pages
Umeå: Umeå Universitet , 2013. , 84 p.
Umeå University medical dissertations, ISSN 0346-6612 ; 1566
Rett syndrome, child development, developmental disabilities, gait, impairment, mobility, motivation, motor skills disorders, orthostatic intolerance, physiotherapy, recovery of function.
IdentifiersURN: urn:nbn:se:umu:diva-68684ISBN: 978-91-7459-599-4OAI: oai:DiVA.org:umu-68684DiVA: diva2:617400
2013-05-17, Aulan, Vårdvetarhuset, Umeå Universitet, Umeå, 12:30 (Swedish)
Bartonek, Åsa, Docent
Lindström, Britta, DocentWitt Engerström, Ingegerd, Med.Dr.spec.neuroped
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