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Rett syndrome (RS) is a neurological disease affecting mainly females, characterized by an arrest of brain development caused by an X-linked mutation. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. The disease has been traced to a defective gene called MECP2. The case stories presented here and recent findings show that females with RS are able to live into old age. Due to the observed longevity of individuals with RS, and the fact that individuals with RS present the therapist/physician with specific clinical challenges, it is suggested that proper, long-term, and individually tailored, intensive care should be provided at all ages in the hope to prevent or at least reduce the age-related deterioration that is typical of this population.

Rett syndrome (RS) is a neurological disorder, affecting mainly females, caused by MECP2 mutations usually resulting in severe physical disability. Due to the physical challenges faced by the individual with RS and her family, her rehabilitation program should support her throughout different daily activities, contexts, and surroundings. Rehabilitation interventions to reverse physical impairments include exercise of various types and different physical modalities. Nevertheless, in the vast majority of cases, hands-on therapeutic intervention opportunities are available for the client through a minute part of her waking hours. Hence, a supplementary system is required in order to engulf the child with a comprehensive network of support. Supplementary intervention can support physical impairment by introducing adaptive techniques, environmental modifications, and assistive technologies. The therapy program of an individual with RS should include the use of assistive technology when such devices improve the user's performance. The term "supplementary management" relates to the fact that this intervention may be performed by nonprofessionals with the supervision of a qualified therapist. Such an intervention can further support the therapeutic goals of the child, at a time when direct intervention is not supplied. The present article will review the available literature on the topic of assistive technology, incorporating the clinical knowledge of the author in the field of RS.

The individual with Rett syndrome (RS) displays an array of challenging difficulties in all areas of daily living. Since there is no cure for the disorder at this moment, parents of the individual with Rett search for different interventional modalities that will improve the condition and quality of life for their child. During the last few years, many individuals with RS have experienced different kinds of interventions. This paper presents these methods with relevant case stories for others to share the possibilities. This paper reviews the following interventions: animal-assisted therapy, such as dolphin therapy and dog-assisted therapy; auditory integration training; hyperbaric chamber; manual therapy, such as acupuncture/acupressure, aromatherapy, craniosacral therapy, Mayo facial release, Treager massage, chiropractor, and Reiki; mental modification techniques, such as Lovas and cognitive rehabilitation; motoric interventions, such as advanced biomechanical rehabilitation, patterning/Doman-DeLacato approach, and yoga. The present paper is not a recommendation for any of the above-mentioned techniques, but merely a review of different interventions available for the inquisitive parent of the individual with RS.

Persons with Down syndrome (DS) are at risk for a life of inactivity that can result in a multitude of medical problems including heart and vascular diseases. This review presents findings regarding the physical status of individuals with DS, as well as proper interventions found to improve the physical fitness and general health for this population. This review was written with the intent to suggest practical directions in planning and implementing quality physical intervention programs for this population.

Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life. One of the affected systems is the digestive system, where 74% of persons with RS have abnormal functioning. The affected digestive system causes this population to present an array of problems, such as gastroesophageal reflux (GER), constipation, and malnutrition, leading to failure to thrive (FTT), which resolves in reduced functional ability. Due to the severe effects of the dysfunctional digestive system of individuals with RS, this article will describe the problems common to this population, as well as propose some clinical suggestions for intervention.

Osteoporosis is the reduction of calcium density in bones, usually evident in postmenopausal females, yet the tendency for osteoporosis can also be identified at a young age, especially in patients with chronic diseases, disabilities, and on chronic anticonvalsant treatment. Individuals with Rett syndrome (RS) have been found to show signs of osteoporosis at a young age. This condition may cause pathological fractures, inflict pain, and seriously damage mobility. In such cases, the quality of life of the individual and her primary caretakers will be severely hampered. This article reviews the current knowledge of the phenomenon and suggests some clinical directions for the individual with RS who shows signs of osteoporosis. The article also presents novel findings from a screening test of bone strength in 35 individuals with RS at different ages using the Sunlight Omnisense 7000P ultrasound apparatus. The primary results from this investigation showed a strong and significant positive correlation between calcium intake and bone strength (p < 0.0001) as well as bone density Z values (p < 0.005). The occurrence and frequency of fractures were found connected with reduced bone strength in measurements of both the radius (p < 0.0001) and the tibia (p < 0.004) as well as with negative bone strength Z values (p = 0.03). Other findings specified within the content of the article support the implementation of a comprehensive antiosteoporotic preventive management for this population.

Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome. Patients with RS are characterized by an array of neurological and orthopedic difficulties that mandate an intensive therapeutic intervention program for the duration of the individual's life. Many aspects of the client's well-being and functional status depend on the therapeutic intervention she receives and on her compliance to it. This article will briefly review common intervention approaches for individuals with RS and their present day's application. Due to the notion that individual intervention is the foundation on which progress and development of the functional gains rests, the present article will place basic guidelines for individual intervention with clients with RS. The article is mainly based on the clinical experience of the author and others working with individuals with RS.

Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population.

Rett syndrome (RS) is a neuro-developmental syndrome of genetic origin, which mainly affects women. Individuals diagnosed with RS exhibit a variety of functional difficulties, which impair their quality of life. The variety of impairments and the differences between each child makes it necessary to administer skilled treatment, individually tailored to each client. Since the foundation of proper treatment is based on a structured, well administered, insightful assessment, the individual with RS with her complex array of difficulties should benefit from such a procedure. This notion has led to the establishment of the Israel Rett Syndrome Center. The center includes a medical branch located at the Safra Shildren's Medical Center at Tel Hashomer and an education/rehabilitation team, who performs assessments in special education facilities and residential settings throughout Israel. The assessment team works by means of arena assessment according to the concept of play-based assessment. This article presents the working model used by the education/rehabilitation team at the Israeli Rett Syndrome Center. The principles and working characteristics of the Israel Rett Syndrome Center team are suggested here as a potential model for establishing additional teams, presenting similar evaluation services for other individuals with RS as well as for analogous populations.

Individuals with Rett syndrome (RS) present a vast array of orthopedic and neurological difficulties. Typical problems, which may need to be addressed, when treating this population are functional limitations, low cardiovascular capacity, hypotonia, ataxia, apraxia, loss of transitional movements, spasticity, scoliosis and/or kyphosis, loss of ambulation, loss of hand function, foot deformities, and spatial disorientation. Coping with such difficulties and overcoming the associated limitations carry a wearisome task for the individual with Rett as well as for her family. An informed and intensely applied physical therapy regime can help the child and the family cope and even overcome the above-mentioned limitations. The present article presents some insights regarding the intervention with individuals with RS, an overview of typical neuromuscular problems associated with RS, and appropriate suggestions pertaining to clinical intervention that have been found to contribute to this population's well-being. The information presented is mainly based on the clinical knowledge of the authors.

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.

Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. So far, only surgical intervention has succeeded in reversing the development of scoliosis in Rett syndrome. The present study describes a new management approach implemented with a girl with Rett syndrome. The core of the management regime was intensive: asymmetrical activation of trunk muscles through equilibrium reactions. The X-rays accompanying the article (evaluated by four experienced orthopedic surgeons blinded to the intervention process) suggested that the intervention was successful in reversing the progress of the scoliosis for the above-mentioned child. Discontinuation of treatment led to severe and rapid deterioration of the spinal curve. Due to the fact that this was a case study, generalization is limited, but we suggest further investigation and studies with this method.

Persons with intellectual disability (ID) and associated multiple disabilities have been found by many researchers to be a population with deficient physical fitness measures, which can be explained by an inactive lifestyle, a result of lack of awareness of the positive physical effects of physical exercise, or lack of motivation for any motor activity. Various plans for physical exercise have been put forward, but many are found impractical in nonresearch-based intervention. In this study, 15 children with ID on a motor functioning level of 7-14 months used a treadmill daily for 2 months. Our findings indicated a most significant improvement in the level of physical fitness of the participants (p < 0.005), as measured by pulse at rest and during effort. The improvement in physical fitness modestly (r = 0.5), but significantly (p < 0.05), correlated with a significant (p < 0.0007) improvement in functional ability of the participating children. Further examination a year after intervention terminated showed a return to preintervention pulse-at-rest values. The research examined the treadmill training method and found that it can be operated with the support of an unskilled staff person under the supervision of a physiotherapist. The research was performed under real-life conditions, enabling relatively easy implementation in the existing conditions of special education centers. This method is a type of exercise that is easy to operate without entailing long-term budgetary expenses and might improve the health status of children with ID, who are a population at risk for developing heart-related diseases at a young age.

In Israel today, with a total population of over 6 million persons, the Division for Mental Retardation (DMR) provides services to 23,000 persons with intellectual disability (ID). Of the 23,000, residential services are provided to more than 6,000 in close to 60 residential centers, another 2,000 are provided residential care in hostels or group homes in the community in about 50 locations, while the rest are served with day-care kindergarten, day-treatment centers, sheltered workshops, or integrated care in the community. The first Snoezelen room (controlled multisensory stimulation) in the DMR was established at the Bnei Zion residential care center in 1995. The Snoezelen method is now used in Israel in more than 30 residential care centers and 3 community settings. Since the year 2000, a physiotherapist has been employed in order to supervise the treatment and development of the method nationally. Professional staff meetings take place every 4 months. A certification course has been established on a national basis for individuals from different professions (occupational therapists, physiotherapists, teachers, music therapists, nurses, speech therapists, or caregivers). Snoezelen has proved to be an important instrument and a powerful therapeutic tool among the various treatment modules employed in Israel for persons with ID. This paper presents the concept illustrated with two case stories.