Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Essl, M.
Development of hand function and stereotypies in Rett Syndrome during the first year of life
[ Diplomarbeit ] Medical University of Graz; 2013. pp. 149
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Einspieler Christa
- Marschik Peter
- Altmetrics:
- Abstract:
- Background: One of the specific signs of Rett Syndrome is the loss of functional hand use within the first 18 months of life, followed by compulsive hand movements such as wringing and washing. Aim of this study was to analyse the development of both normal and abnormal hand movements within the first 12 months of life. Material and Method: Twohundred-sixty-seven family video sequences (duration: 10 seconds to 4 minutes) of a girl with classic Rett Syndrome (MECP2 mutation-positive) were carefully analysed for hand movements and postures. Results: Nineteen normal and twelve abnormal patterns were observed in each hand. Although the girl fulfilled all developmental milestones such as hand-to-midline, transfer of objects, pincer grasp, index finger pointing or turning pages, abnormal hand and finger movements have been noted from 5 weeks onwards. The first abnormalities were short tremulous hand movements followed by an abnormal thumb posture from 7 weeks onwards. The first hand stereotypies occurred already during the 5th month of life: From 18 weeks onwards the girl showed abnormal rotations of the wrist and from 22 weeks onwards repetitive opening and closing of the hands was observed. The first washing movements were seen at 32 weeks (8 months) although at the same age the girl showed variable finger movements. Both abnormal and normal hand patterns were present during each month of the observation period. However the consistency of normal patterns was always higher than that of abnormal behaviours. Conclusion: Our meticulous and close follow-up study is a further contribution to refute the paradigm of a seemingly inconspicuous early development. Yet, we could not confirm the hypothesis that abnormal behaviours would increase and normal patterns would decrease with age.