1/4. mutation analysis of the MECP2 gene in British and Italian rett syndrome females.rett syndrome is an X-linked dominant neurological disorder, which appears to be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives, representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2 mutations in rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, which is conserved among brain-specific regulatory factors.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/4. hydrotherapy for rett syndrome.OBJECTIVE: The effects of hydrotherapy on an 11-year-old girl with stage III rett syndrome were investigated. methods: The Halliwick method was used to apply hydrotherapy in a swimming pool twice a week for 8 weeks. The girl's physical abilities were assessed 3 times: before and 5 minutes after a single hydrotherapy session and after 8 weeks of hydrotherapy. The tests included analysis of stereotypical movements, functional hand use, hand skills, gait and balance, hyperactive behaviour, communication and social interaction. RESULTS: Immediately after hydrotherapy, stereotypical movements decreased and this decrease continued during the following 8 weeks. The girl's feeding activities and hand skills increased markedly. After 8 weeks of hydrotherapy, her walking balance was improved, interaction with her environment increased and hyperactive behaviour and anxiety decreased. CONCLUSION: In conclusion, after the application of hydrotherapy, stereotypical hand movements had decreased and purposeful hand functions and feeding skills increased in this case. Whether hydrotherapy has a positive effect on the functional use of the hand in rett syndrome should be investigated using more subjects.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/4. Management of rett syndrome in the controlled multisensory (Snoezelen) environment. A review with three case stories.rett syndrome (RS) is a neurological disorder resulting from an X-linked dominant mutation. It is characterized by a variety of physical and perceptual disabilities, resulting in a need for continuous intervention programs to be administered on a regular basis throughout life. Many of these individuals with RS show fear of movement and, therefore, find it hard to accept external facilitation (so common in physical therapy intervention). In a search for novel intervention techniques that might improve their ability to cope with difficulties in daily situations, while also reducing their difficulty in handling motion inflicted by an external physical facilitator, we examined the use of the Snoezelen room. The Snoezelen, also known as the controlled multisensory environment, can provide a soothing atmosphere that appeals to the individual with RS, while at the same time it can improve physical, sensorial, and functional abilities. This article suggests various intervention goals that are appropriate for individuals with RS at different stages of the disorder. Since the management of young children with RS in the multisensory environment has been discussed at length in the past, this article will mainly describe intervention with adults with RS, focusing on three case stories. The present article reviews the available scientific materials on the topic of Snoezelen, incorporating clinical knowledge in the field of RS and suggesting this approach as an appropriate intervention method for this population.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
4/4. Two sisters with rett syndrome.We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of rett syndrome as defined by the rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |