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Rett syndrome and ageing: a case study.
K Jacobsen1, A Viken, S von Tetzchner
1Department of Psychology, University of Trondheim (NTNU), Norway. Karl.Jacobsen@svt.ntnu.no
Disability and Rehabilitation
|March 15, 2001
Summary
This case study highlights that functional improvements in elderly individuals with Rett syndrome (RS) may be due to increased opportunity and training, not just aging. Early identification and intervention are crucial for maximizing potential in RS patients.
Area of Science:
- Neuroscience
- Developmental Biology
- Gerontology
Background:
- Rett syndrome (RS) is a rare genetic neurodevelopmental disorder primarily affecting girls.
- Understanding functional changes in aging individuals with RS is critical for effective rehabilitation strategies.
Observation:
- A case study of a woman with RS who lived to 60 years old.
- Documented improvements in ambulation and hand function later in life.
- Changes in social interaction were observed, with initial regression followed by partial recovery.
Findings:
- Intensive physiotherapy led to regained ability to walk without support after 21 years.
- Improved hand use was noted in the years preceding death.
- Social interest fluctuated, suggesting potential for adaptation and response to environmental stimuli.
Implications:
- Functional abilities in RS may be underestimated due to dyspraxia, lack of opportunity, and insufficient training.
- Rehabilitation and environmental adaptations can significantly impact functional outcomes in aging individuals with RS.
- Early and ongoing identification of Rett syndrome is vital across all age groups to ensure appropriate support and maximize potential.