Literature DB >> 11247011

Rett syndrome and ageing: a case study.

K Jacobsen1, A Viken, S von Tetzchner.   

Abstract

PURPOSE: This case study of an elderly women with Rett syndrome is used to consider whether observed changes may be related to physiological processes involved in ageing or environmental adaptations, which is important for delivery of rehabilitation.
METHOD: The life story of a woman with Rett syndrome who lived to the age of 60 is presented. It is based on medical records, older and more recent videotapes, and interviews with her sister and care staff.
RESULTS: After 21 years without walking, following intensive physiotherapy, she regained the ability to walk without support. She also showed improvement in hand use a few years before she died. During the early regression she appeared to lose social interest. The interest improved after some time, but she remained wary of people she did not know.
CONCLUSION: The walking and hand use indicate that these functions may have been present to a greater extent than assumed by people in the environment and that her poor function reflects dyspraxia and lack of opportunity and training rather than lack of ability. Although more studies of elderly women with Rett syndrome is needed to answer whether the observed changes were due to physiological processes involved in ageing or environmental adaptations, the present case story demonstrates that identification of females with Rett syndrome is important at all age levels.

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Year:  2001        PMID: 11247011     DOI: 10.1080/09638280150504234

Source DB:  PubMed          Journal:  Disabil Rehabil        ISSN: 0963-8288            Impact factor:   3.033


  3 in total

1.  The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Authors:  Daniel C Tarquinio; Wei Hou; Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; Kathleen J Motil; Steven A Skinner; Hye-Seung Lee; Alan K Percy
Journal:  Pediatr Neurol       Date:  2015-06-26       Impact factor: 3.372

2.  Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.

Authors:  Hanneke E Borst; Gillian S Townend; Mirjam van Eck; Eric Smeets; Mariëlle van den Berg; Aleid Laan; Leopold M G Curfs
Journal:  J Dev Phys Disabil       Date:  2018-01-02

Review 3.  Impact of a Remotely Supervised Motor Rehabilitation Program on Maternal Well-Being During the COVID-19 Italian Lockdown.

Authors:  Moti Zwilling; Alberto Romano; Martina Favetta; Elena Ippolito; Meir Lotan
Journal:  Front Psychol       Date:  2022-03-07
  3 in total

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