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Rett syndrome, motor development, mobility and orthostatic reactions: loss of function, difficulties and possibilities
Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
2013 (Engelska)Doktorsavhandling, sammanläggning (Övrigt vetenskapligt)
Abstract [en]

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.

Ort, förlag, år, upplaga, sidor
Umeå: Umeå Universitet , 2013. , s. 84
Serie
Umeå University medical dissertations, ISSN 0346-6612 ; 1566
Nyckelord [en]
Rett syndrome, child development, developmental disabilities, gait, impairment, mobility, motivation, motor skills disorders, orthostatic intolerance, physiotherapy, recovery of function.
Nationell ämneskategori
Sjukgymnastik
Identifikatorer
URN: urn:nbn:se:umu:diva-68684ISBN: 978-91-7459-599-4 (tryckt)OAI: oai:DiVA.org:umu-68684DiVA, id: diva2:617400
Disputation
2013-05-17, Aulan, Vårdvetarhuset, Umeå Universitet, Umeå, 12:30 (Svenska)
Opponent
Handledare
Tillgänglig från: 2013-04-25 Skapad: 2013-04-23 Senast uppdaterad: 2018-06-08Bibliografiskt granskad
Delarbeten
1. Gross motor ability in Rett syndrome: the power of expectation, motivation and planning
Öppna denna publikation i ny flik eller fönster >>Gross motor ability in Rett syndrome: the power of expectation, motivation and planning
2001 (Engelska)Ingår i: Brain & development (Tokyo. 1979), ISSN 0387-7604, E-ISSN 1872-7131, Vol. 23, nr Suppl. 1, s. S77-S81Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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.

Nyckelord
Physiotherapy; Walking; Re-learning; Analysis; Individual plan; Retraining; Pedagogics; Orthoses
Nationell ämneskategori
Sjukgymnastik
Identifikatorer
urn:nbn:se:umu:diva-68399 (URN)10.1016/S0387-7604(01)00334-5 (DOI)
Tillgänglig från: 2013-04-18 Skapad: 2013-04-18 Senast uppdaterad: 2018-06-08Bibliografiskt granskad
2. Odd MECP2-mutated Rett variant: long-term follow-up profile to age 25
Öppna denna publikation i ny flik eller fönster >>Odd MECP2-mutated Rett variant: long-term follow-up profile to age 25
2003 (Engelska)Ingår i: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 7, nr 6, s. 417-421Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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.

Nyckelord
Rett syndrome; Odd variant; Long-term follow-up
Nationell ämneskategori
Sjukgymnastik
Identifikatorer
urn:nbn:se:umu:diva-68386 (URN)10.1016/j.ejpn.2003.09.003 (DOI)
Tillgänglig från: 2013-04-18 Skapad: 2013-04-18 Senast uppdaterad: 2018-06-08Bibliografiskt granskad
3. Rett syndrome from a family perspective: the Swedish Rett Center survey
Öppna denna publikation i ny flik eller fönster >>Rett syndrome from a family perspective: the Swedish Rett Center survey
2005 (Engelska)Ingår i: Brain & development (Tokyo. 1979), ISSN 0387-7604, E-ISSN 1872-7131, Vol. 27, nr Suppl 1, s. S14-S19Artikel i tidskrift (Refereegranskat) Published
Nyckelord
Autonomic dysfunction; Foot deformities; Loss of function; Motor development; Physiotherapy; Posture; Regain function; Scoliosis
Nationell ämneskategori
Sjukgymnastik
Forskningsämne
sjukgymnastik
Identifikatorer
urn:nbn:se:umu:diva-7045 (URN)10.1016/j.braindev.2005.03.015 (DOI)16182488 (PubMedID)
Tillgänglig från: 2008-01-03 Skapad: 2008-01-03 Senast uppdaterad: 2018-06-09Bibliografiskt granskad
4. Normal reactions to orthostatic stress in Rett syndrome
Öppna denna publikation i ny flik eller fönster >>Normal reactions to orthostatic stress in Rett syndrome
Visa övriga...
2013 (Engelska)Ingår i: Research in Developmental Disabilities, ISSN 0891-4222, E-ISSN 1873-3379, Vol. 34, nr 6, s. 1897-1905Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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.

Ort, förlag, år, upplaga, sidor
Oxford: Pergamon Press, 2013
Nyckelord
Rett syndrome, Autonomic function, Healthy controls, Orthostatic reaction, Orthostatic hypotension
Nationell ämneskategori
Sjukgymnastik
Identifikatorer
urn:nbn:se:umu:diva-68402 (URN)10.1016/j.ridd.2013.02.027 (DOI)000318663300006 ()
Tillgänglig från: 2013-04-18 Skapad: 2013-04-18 Senast uppdaterad: 2018-06-08Bibliografiskt granskad

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