1/11. rett syndrome: photographic evidence of rapid regression.rett syndrome is known to occur in females, around the second year, with loss of hand use, onset of stereotypes and acquired microcephaly. Such regression is often very rapid, but this has never been documented. In one of our patients, photographs taken at different times clearly demonstrate the rapid progression of first symptoms. Moreover, in the present case, the occurrence of a febrile illness, which preceded the onset of the neurological picture, support the hypothesis that environmental factors may trigger the onset of rett syndrome in genetically predisposed subjects.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
2/11. Analysis of aberrant behaviour associated with rett syndrome.PURPOSE: The purpose of this study was to identify the variables involved in the maintenance of aberrant behaviours associated with rett syndrome. The occurrence of aberrant behaviours associated with rett syndrome is typically attributed to biological variables associated with the disorder. In some cases. however, these behaviours have been shown to be sensitive to manipulations of environmental variables (i.e. operant contingencies). However, little research exists regarding the variables involved in the maintenance of these behaviours and the manner in which these variables can be manipulated to effectively reduce the occurrence of these behaviours. METHOD: We conducted functional analyses of the aberrant behaviours exhibited by two females diagnosed with rett syndrome. Following the functional analyses, treatments were developed to disrupt the relationship between the aberrant response and the reinforcer maintaining it. RESULTS: Results from the functional analysis suggested that in both cases the aberrant behaviours (i.e. hand wringing and hand mouthing) were maintained by automatic reinforcement. Treatment, which included interrupting hand wringing for one individual and preventing hand mouthing for the other participant, resulted in dramatic changes in the levels of aberrant behaviour for both participants. These changes suggested that preventing reinforcement delivery reduced the motivation to engage in aberrant behaviour. CONCLUSIONS: These results suggest that operant variables can be manipulated to influence the occurrence of aberrant behaviour associated with rett syndrome.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
3/11. rett syndrome and ageing: a case study.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.- - - - - - - - - - ranking = 3keywords = environment (Clic here for more details about this article) |
4/11. Having friends and rett syndrome: how social relationships create meaningful contexts for limited skills.PURPOSE: The experiences of a teenage girl with rett syndrome who was being educated in an inclusive middle school are described to provide a better understanding of how social relationships create meaningful contexts for individuals with limited skills. The case example is used to illustrate the principle that contexts (including expectancies, acceptance, philosophical principles) can be designed to support meaningful social relationships, despite social and intellectual disabilities. METHOD: Naturalistic observations of social interactions over a two year period are reported to illustrate the possible types of social relationship between this young person and her adolescent friends and peers. RESULTS/CONCLUSIONS: While someone with this syndrome might be judged objectively to have minimal social skills, an accepting social environment willing to read minimal communicative cues provided the context for many typical social interactions. Since contexts require subjective judgement. the post-modern concept that disability represents a social construction can be viewed as a metaphor compatible with the reality that careful planning and structuring of the environment is in some instances the most appropriate intervention focus rather than the person with a disability. The sorts of positive friendship experiences described in this paper did not occur spontaneously, or by chance alone, nor were they the result of social skills instruction. Instead, they were associated with observable social behaviour by caregivers and peers who were extending their own repertoires to accommodate someone objectively determined to have a severe disability.- - - - - - - - - - ranking = 2keywords = environment (Clic here for more details about this article) |
5/11. rett syndrome phenotype following infantile acute encephalopathy.rett syndrome is a progressive neurodevelopmental disorder with a well-defined clinical spectrum and course. Recently, mutations in the gene encoding X-linked methyl-CpG binding protein 2 (MECP2) have been identified as the cause of rett syndrome. Along with the classic form, variant forms of rett syndrome and rett syndrome phenotypes are also recognized. We report on a girl who, at age 2 months, developed an acute encephalopathy with destructive brain damage 12 hours after acellular pertussis vaccination. Peripheral lymphocyte subset analysis revealed the existence of T lymphocytes double positive for CD4 and CD8 markers. This pattern normalized over the following 3 months. Months later, the girl manifested a rett syndrome phenotype. dna screening of the MECP2 gene was unrevealing in the child and her parents. This previously unreported association emphasizes the notion that rett syndrome phenotypes can result from different (either genetic or environmental) causes.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
6/11. 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 = environment (Clic here for more details about this article) |
7/11. An analogue assessment of repetitive hand behaviours in girls and young women with rett syndrome.BACKGROUND: rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. In addition to neurodevelopmental regression and loss of hand skills, apraxia, deceleration of head growth, and increasing spasticity and scoliosis, a number of behavioural features are also seen, including stereotypic hand movements, hyperventilation and breath holding. The aim of the study was to investigate the extent to which analogue environmental conditions affected the frequency of repetitive hand behaviour in eight girls and young women with rett syndrome. METHOD: The frequency of repetitive hand movements was observed every 10 s for four 4-min sessions under the following conditions: Continuous adult attention, adult Demands, Stimulation and No Stimulation. RESULTS: The frequency of repetitive hand movements was high -- they occurred in above 60% of all intervals in all conditions for all participants and at nearly 100% for some participants in some conditions. For one participant the frequency of repetitive hand movements was somewhat reduced in the Stimulation condition; for another it was relatively increased in the No Stimulation condition. CONCLUSIONS: overall, environmental manipulations had relatively limited effects on repetitive hand behaviours. Repetitive hand behaviour in Rett syndrome may be maintained by automatic reinforcement or neurochemical processes and may not be primarily influenced by contingent reinforcement.- - - - - - - - - - ranking = 2keywords = environment (Clic here for more details about this article) |
8/11. 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 = 6keywords = environment (Clic here for more details about this article) |
9/11. Difference in early development of presumed monozygotic twins with rett syndrome.Normal early development has generally been insisted on as an essential criterion for the diagnosis of rett syndrome. A new set of monozygotic female twins is reported. Twin 1 was considered to be abnormal from birth while delay was not suspected in twin 2 until she was about one year old. Some regression occurred during the second year in both twins, who are now clinically indistinguishable from each other at age 4 years. Other than a slight difference in head circumference at birth, no environmental factor which could account for the clinical difference has been identified.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
10/11. L-carnitine as a treatment for rett syndrome.A 17-year-old girl with rett syndrome, who was taking no other medications, was treated with L-carnitine (50 mg/kg/day). Within 2 months of initiation of treatment, she became much more alert, developed good eye contact, started reaching for objects with both hands, and answered simple questions with one or two words. L-carnitine was discontinued and within 1 week she lapsed into her pretreatment condition of lethargy with no interest in her environment, not reaching for objects, poor eye contact, and not speaking. One week after L-carnitine was resumed, she again became alert, started reaching for objects, and saying one or two words. Her serum carnitine levels (free and total) were within normal limits before and after L-carnitine treatment, but were higher while she was taking L-carnitine. Her serum ammonia was within normal limits prior to starting L-carnitine. L-carnitine appears to be an effective treatment for this girl with advanced rett syndrome.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
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