Regaining walking ability in individuals with Rett syndrome: a case study

Abstract

Rett syndrome (RS) is a neurodevelopmental syndrome characterized by arrested brain development. The disorder is caused by a faulty gene on the X chromosome, mainly affecting females. The syndrome usually manifests itself through vast clinical impairments in functional abilities, including motor ones. According to different studies, only 50%–75% of all affected females will achieve walking abi­lity, and some will lose this ability later in life. The benefits of living a physically active life both for handicapped and non-handicapped individuals have been vastly described in the literature. As the life expectancy of individuals with RS is around 50 years of age and because of the medical and functional difficulties accompanying this syndrome, it is extremely important that the person with RS will have a continuous active lifestyle from a young age. Several case studies have described the re-gaining of lost walking ability, aside from the achievements of gait, in this population because of intensive intervention. The present article explores the benefits of walking for this population and describes a person with RS who regained her walking ability at the age of 28 because of an intensive and comprehensive program after being in a wheelchair for over 5 years. The present case study supports the existing literature and calls for health-related professionals working with this population to implement similar programs with individuals with RS because of the importance of maintaining an active lifestyle for all human beings, especially those with disabilities.