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Autism spectrum disorder (ASD) has been intensely investigated since the term was first used over 80 years ago. The prevalence of ASD is constantly rising, and, currently, 1:36 children are diagnosed with this disorder. Despite the intense interest in ASD, the origins of this disorder remain obscure. This article explores motor issues and proprioceptive interoception difficulties as the prodrome of ASD. The importance of early intervention in the prognosis of ASD is common knowledge. Yet, since the communicational and social behaviors typical of ASD are observable only after the age of 18 months, diagnosis and early intervention are delayed. Therefore, the quest into the involvement of sensory-motor difficulties as a source of ASD traits, or at least as a potential early indicator, is warranted, with the intention of enabling early diagnosis and early intervention. This article examines the justification for this new avenue of early diagnosis and intervention and may open up a completely different way of viewing ASD. This new point of view may suggest an original path of assessment and intervention in infancy with this group of clients, possibly leading to improved prognosis for children and their families.

Introduction: The main aim of the present study was to examine whether the use of a low-tech tool, called click4all, inserted into cognitive and motor training can increase social interaction of patients with Rett Syndrome (RTT) with classmates in a school setting., Methods: Twenty-seven participants with RTT were randomly assigned to two groups: the experimental group received treatment with click4all, and the control group received traditional treatment without click4all. Parameters were measured before treatment (T1), 6 months after treatment (T2), 6 months after the second treatment phase (T3) and at the end of the third treatment phase (T4)., Results: The results demonstrated an increase in levels of social interaction among classmates and patients with RTT in the experimental group, over time, compared to the control group, 95% CI [5.20-15.30]. Classmates also showed a higher level of knowledge related to participants of the experimental group, and this increased over time, 95% CI [24.98-63.52]. The level of knowledge related to the control group was stable over time and lower than the experimental group., Discussion: This study demonstrated that the use of a low-tech tool can increase social interactions of patients with RTT in a school setting. This is important, as patients with RTT are often restricted in an isolation condition., Competing Interests: GZ was employed by Fondazione Asphi. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Caprì, Dovigo, Semino, Lotan, Mohammadhasani, Zamarra and Fabio.)

Background : Physical therapy plays a crucial role in addressing the physical challenges faced by individuals with autism spectrum disorder (ASD). Amidst the COVID-19 pandemic lockdown, physical therapists (PTs) working in special education centers for ASD children were tasked with deploying remote telehealth interventions (RTIs), an uncommon approach in physical therapy until then. The present article aims to describe and discuss the PTs' perspective of using RTI with children with ASD during the national Israeli COVID-19 lockdown. Methods : Reports from 13 experienced PTs who treated and supported 244 children with ASD using RTIs over six weeks were analyzed. The study employed quantitative research methods, including freely written reports and discussions addressing the question "what were your experiences as a PT treating ASD children remotely during the nationwide COVID-19 lockdown?" Results : the reports were categorized into four main themes: (a) the implications of RTIs on the children; (b) the implications of RTIs on the PTs; (c) modifications for applying RTI; and (d) PTs' family rapport as a necessary basis for RTI. Noteworthy findings include the unaffected implementation of RTIs by ASD severity level and the dependence of RTI's success on parental availability and the ability of parents to tailor activities for their child. Conclusions : The findings of the current research suggest that PT services through RTIs are well-suited for individuals with ASD and their families.

Rett syndrome (RTT) is a neurodevelopmental disorder marked by profound cognitive, communication, and motor impairments. Despite identified genotype/phenotype connections, the extent of clinical severity varies even among individuals sharing the same genetic mutation. Diverse sociocultural environments, such as the level of inclusivity of the scholar system, the time spent with family, and the intensity of the rehabilitative intervention provided, might influence their development diversely. This study examines the severity of RTT in people in Italy and Israel, countries with distinct contradictory approaches to caring for those with intricate disabilities, across two age groups. Data from 136 Italian and 59 Israeli girls and women with RTT were assessed and divided into two age categories: above and below 12 years. The RARS, a standardized RTT-specific clinical severity tool, was administered. Despite no differences in age and genetic characteristics, the Italian group showed better scores in the RARS motor and disease-related characteristics areas in both age groups. Moreover, the young Italian participants gathered better total RARS scores and emotional and behavioral characteristics area scores. Furthermore, the young group showed significantly less scoliosis, foot problems, and epilepsy than the older group. These findings endorse the inclusion of girls with RTT in the regular schooling system for a limited daily period, investing in high activity levels within the home and community environments, and suggest continuously providing the person with daily occasions of physical activity and socialization.

(1) Background: One of the characteristics associated with Rett syndrome (RTT) is a fear of movement (FOM). Despite the grave consequences on health, function, and the caregiver's burden associated with bradykinesia accompanying FOM, there is no specific FOM assessment tool for RTT. (2) Objective: To construct and assess the psychometric values of a scale evaluating FOM in RTT (Rett syndrome fear of movement scale-RSFMS). (3) Methods: Twenty-five girls aged 5-33, including a research group (N = 12 individuals with RTT) and control group (N = 13 typically developing girls at equivalent ages). The Pain and Discomfort Scale (PADS) and Facial Action Coding System (FACS) assessed the participants' behavior and facial expressions in rest and movement situations. (4) Results: Significant behavioral differences were recorded in these rest and movement situations within the research groups using the RSFMS ( p = 0.003), FACS ( p = 0.002) and PADS ( p = 0.002). No differences in reactions were found within the control group. The new scale, RSFMS, was found to show a high inter- and intra-rater reliability (r = 0.993, p < 0.001; r = 0.958, p < 0.001; respectively), good internal consistency (α = 0.77), and high accuracy (94.4%). (5) Conclusions: The new scale for measuring FOM in RTT, the RSFMS, was validated using the FACS and PADS. The RSFMS was found to be a tool that holds excellent psychometric values. The new scale can help clinicians working with individuals with RTT to plan appropriate management strategies for this population.

There is a lot of evidence that early developmental therapy achieves impressive therapeutic results for those who require it. Therefore, developmental follow-up, which includes the process of monitoring the child's development over time, makes it possible to identify possible developmental problems and treat them from a young age. This assumption is true in relation to all children with developmental difficulties but is mainly true in the context of children with a diagnosis of autism. However, despite the abundance of developmental scales for the neurotypical population, there are currently no valid scales for assessing motor function for children with autism. The current article focuses on the presentation of the motor delay, identified according to the literature, in many of the children with autism and requires the provision of professional and compatible treatment for these children. This motor delay and the lack of a motor assessment tool for children with autism raises the need for an adapted motor developmental assessment tool, which will produce measurable results, to enable the monitoring of the aforementioned disability and the receiving of tailored treatment from the physiotherapists who deal with the development of children with autism at an early age. The article reviews common existing assessment tools for use in assessing normal development in children with autism, presents the limitations and the challenges that arise when using these assessment tools with children on the autism spectrum and presents the need for a new developmental assessment tool that will be built and validated specifically for children with autism.

Intellectual disability (ID) is assumed to be a dynamic phenomenon influenced by personal and environmental factors. During the 18 months of the coronavirus disease (COVID-19) pandemic, most day centers remained open for adults with ID who lived with their families (most of them with severe/profound [S/P] ID) but were closed to those who lived in group homes (with moderate and mild ID). Owing to the fewer participants in day centers, adults with S/P ID received more hours of therapy than before the pandemic. Using a functional screening tool, functional and environmental changes were mapped and discussed in team meetings. As expected, the pandemic caused environmental and personnel changes that affected all groups. The moderate ( n = 29) and mild ( n = 31) groups deteriorated over the 18 months of the study, especially the senior ones. However, the functional state of the S/P group ( n = 16) improved. These results support the understanding that ID is truly dynamic throughout the lifespan. Functional improvements for S/P ID can occur during adulthood with intense and individually adapted interventions., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. This opinion paper aims to present up-to date evaluation tools which have specifically been adapted for individuals with RTT often used by the authors in their clinical and research practice and to provide the reader with essential considerations and suggestions regarding their use. Due to the rarity of Rett syndrome, we found it important to present these scales in order to improve and professionalize their clinical work. The current article will review the following evaluation tools: (a) the Rett Assessment Rating Scale; (b) the Rett Syndrome Gross Motor Scale; (c) the Rett Syndrome Functional Scale; (d) the Functional Mobility Scale-Rett Syndrome; (e) the Two-Minute Walking Test modified for Rett syndrome; (f) the Rett Syndrome Hand Function Scale; (g) the StepWatch Activity Monitor; (h) the activPAL TM ; (i) the Modified Bouchard Activity Record; (j) the Rett Syndrome Behavioral Questionnaire; and (k) the Rett Syndrome Fear of Movement Scale. The authors recommend that service providers consider evaluation tools validated for RTT for evaluation and monitoring to guide their clinical recommendations and management. In this article, the authors suggest factors that should be considered when using these evaluation tools to assist in interpreting scores.

Aim: To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome (RTT)., Method: In this multicentre randomized waitlist-controlled trial, we recruited 43 ambulatory individuals with RTT in Australia and Denmark. Adequate baseline data were obtained from 38 participants (mean age 20 years, range 6-41, SD 10 years 6 months, one male). All completed the trial. Participants received 12 weeks of usual care (n = 19) or a goal-based, telehealth-supported programme in which activities occurred in their familiar environments (n = 19). Sedentary time and daily steps were assessed at baseline, post-test, and 12-week follow-up. The data analyst was blinded to group allocation., Results: Sedentary time decreased in the intervention group by 2.7% (95% confidence interval [CI] -6.0 to 0.6) and increased in the control group by 1.3% (95% CI -4.8 to 7.4). Intervention and control groups increased the number of their steps per day by 264.7 (95% CI -72.2 to 601.5) and 104.8 (95% CI -178.1 to 387.7) respectively. No significant differences were found on any outcomes at post-test. There were three minor adverse events., Interpretation: A goal-based telehealth intervention seemed to produce small improvements in physical activity for individuals with RTT. Families require more support to increase these individuals' extremely low physical activity levels., What This Paper Adds: A telehealth-supported intervention may produce small changes in physical activity in Rett syndrome (RTT). Increasing physical activity in individuals with RTT is challenging for caregivers. Families require substantial out-of-home support to increase their children's activity levels., (© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Autism spectrum disorder (ASD) is a group of developmental disabilities presenting difficulties in social interaction and language and an increased occurrence of cognitive, sensory, and motor gaps. Early intervention has been reported to improve the function of children with ASD. However, motor screening for children with ASD is difficult, as there are no specific tools for identifying this specific population. This study reports the results of using the Alberta Infant Motor Scale (AIMS), which assesses gross infant motor skills from ages 0 to 18 months, as a screening tool for detecting motor developmental delay (MDD) in small children with ASD., Methods: This retrospective cohort study included all children registered at one health care organization in Israel born between 2011 and 2017 (N = 240,299). Early childhood MDD was defined as having at least one recorded developmental physiotherapy (DPT) visit before the age of 2 years. Reasons for referral to DPT and the results of using AIMS as an appropriate tool for revealing developmental delays in infants with ASD are presented., Results: ASD diagnosis was reported in 1821 children (prevalence rate 0.75%). Of those, 388 (odds ratio 4.1, 95% CI 3.6-4.6) children were referred to DPT. Children with ASD mostly received DPT for motor delays (46.19%), torticollis (19.52%), developmental delay (15.48%), and preterm birth (7.38%). The use of AIMS as an early detection tool suggests that more than 87% of children with ASD and MDD present with a developmental delay or risk for one when using this scale., Conclusions: The prevalence of ASD among children referred to DPT for MDD is higher than its prevalence within the general population. The most common reasons for a child with ASD to be referred for DPT services are MMDs. AIMS was found to be a sensitive tool to pinpoint relevant candidates for ASD screening among children treated in DPT. Possible effects of the study: The use of AIMS as a relevant assessment scale for this group of clients is recommended. Training DPTs in identifying initial ASD signs and developing their clinical reasoning abilities will increase the chance of implementing early intervention with this group of clients.

Pain assessment poses a challenge in several groups of clients, yet specific barriers arise when it comes to pain assessment of individuals with intellectual and developmental disabilities (IDD), due mostly to communication challenges preventing valid and reliable self-reports. Despite increased interest in pain assessment of those diagnosed with IDD within recent years, little is known about pain behavior in this group. The present article overviews the current state of pain diagnosis for individuals with IDD, focusing on existing pain assessment scales. In addition, it suggests technological developments offering new ways to diagnose existence of pain in this population, such as a Smartphone App for caregivers based on unique acoustic characteristics of pain-related vocal responses, or the use of smart wearable shirts that enable continuous surveillance of vital physiological signs. Such novel technological solutions may improve diagnosis of pain in the IDD population, as well as in other individuals with complex communication needs, to provide better pain treatment and enhance overall quality of life.

Background: Gross motor function in Rett syndrome (RTT) is always limited. The complex clinical picture typical of most people with RTT requires intensive and specific rehabilitation programs. Previous reports on remotely supervised motor activity programs suggested positive outcomes for this population. The current article describes the impact of a remote-supervised motor activity program carried out by family members of individuals with RTT on achieving rehabilitation goals and improving gross and fine motor functioning and daily physical activity., Methods: Forty subjects with RTT followed a three-month remotely supervised motor activity program carried out by their family members at home after a three-month baseline period. After the end of the intervention, a three-month wash-out period was implemented. Rehabilitation goal achievement, motor functioning, and level of daily physical activity were measured., Results: 82.4% of rehabilitation goals were achieved or overachieved. Participants' motor functioning and physical activity significantly increased after the intervention ( p ˂ 0.001). Improvements were maintained after the wash-out phase., Conclusions: The proposed intervention was effective for people with RTT of various ages and severity levels. The results highlight the need for lifelong, individualized, daily based, and professionally supervised rehabilitation possibilities for individuals with RTT.

Purpose: People with a disability may spend more time sitting and lying ("downtime") and less time standing and walking ("uptime"). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in "uptime" activities., Method: An anonymous online survey including open ended questions about the enablers and barriers to "uptime" was administered to parent/caregivers and therapists/health professionals in an international sample. Responses were coded to the International Classification of Functioning, Health and Disability (ICF) framework identifying barriers, enablers, and strategies for increasing uptime activities., Results: Parents ( N  = 115) and therapists ( N  = 49) completed the survey. Barriers and enablers to "uptime" were identified for all ICF domains and additional data coded to enabling access to the physical environment. Strategies to promote "uptime" activities and participation particularly related to the individual's physical capacity and personal factors as well as social and physical environmental factors., Conclusions: Findings can inform the design of interventions aiming to increase "uptime" in individuals with Rett syndrome. Strategies should create individualised support by considering how to build fitness using activities that are motivating, at the same time creating opportunities for social interactions within a range of environments.IMPLICATIONS FOR REHABILITATION"Uptime" participation comprised a dynamic interaction of "doing" the standing or walking activity, with a sense of self-engagement with the activities and interaction with others.Strategies to promote "uptime" participation should consider how to create support for person-related attributes, including building physical capacity for a greater volume of "uptime" in activities that are enjoyable and motivating.Strategies to promote "uptime participation should also include creating a supportive environment, comprising opportunities for social interaction within a range of environments".

The dynamic nature of intellectual disability (ID) and its many comorbidities necessitate repeated screening and functional diagnosis. However, the existing scales are lengthy and expensive and cannot be implemented at all levels of ID. During phase one of this study (September 2019-September 2020), the functional screening tool (FST-ID) was validated for adults with ID and then used as a clinical tool to collect data for 76 participants from their direct service providers (DSP). Their age ranged from 21 to 71 years (mean = 37.63, SD ± 14.61), and they were diagnosed with severe/profound (N = 16) and moderate (N = 29), and mild (N = 31) levels of ID. The scale was found to hold high psychometric values. During phase two (September 2020-June 2022), the scale was found to be reliable as a continuous, clinical on-going screening tool, enabling the screening of functional and environmental changes experienced by adults with ID during acute times of the pandemic and regular times alike. All 76 adults experienced changes at the senior's daycare center mostly. The new scale may also help in the future to determine whether those changes only relate to post COVID-19 symptoms or other comorbidities as well.

Background: Most people with autism spectrum disorder (ASD) present at least one form of challenging behavior (CB), causing reduced life quality, social interactions, and community-based service inclusion., Objectives: The current study had two objectives: (1) to assess the differences in physiological reaction to stressful stimuli between adults with and without high-functioning ASD; (2) to develop a system able to predict the incoming occurrence of a challenging behaviors (CBs) in real time and inform the caregiver that a CB is about to occur; (3) to evaluate the acceptability and usefulness of the developed system for users with ASD and their caregivers., Methods: Comparison between physiological parameters will be conducted by enrolling two groups of 20 participants with and without ASD monitored while watching a relaxing and disturbing video. To understand the variations of the parameters that occur before the CB takes place, 10 participants with ASD who have aggressive or disruptive CBs will be monitored for 7 days. Then, an ML algorithm capable of predicting immediate CB occurrence based on physiological parameter variations is about to be developed. After developing the application-based algorithm, an efficient proof of concept (POC) will be carried out on one participant with ASD and CB. A focus group, including health professionals, will test the POC to identify the strengths and weaknesses of the developed system., Results: Higher stress level is anticipated in the group of people with ASD looking at the disturbing video than in the typically developed peers. From the obtained data, the developed algorithm is used to predict CBs that are about to occur in the upcoming 1 min. A high level of satisfaction with the proposed technology and useful consideration for further developments are expected to emerge from the focus group., Clinical Trial Registration: [https://clinicaltrials.gov/], identifier [NCT05340608]., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zwilling, Romano, Hoffman, Lotan and Tesler.)

Background: The dynamic nature of intellectual disability necessitates repeated screening., Method: The functional screening tool (FST-ID) for individuals with intellectual disabilities was carefully constructed., Results: The FST-ID General Adaptive Composite score (GAC) runs between 0 and 68 points. Criterion validity-high-positive correlations were found between FST-ID and ABAS-II (Gold standard), and between the severity of the intellectual disability and the FST-ID (r = 0.78, p < .001). The scale holds high-internal consistency and intra- and inter-rater reliability values. The cut-off point between mild and moderate disability is 50.4 (Sensitivity: 87%, Specificity 86%, p < .001) and 29.4 between moderate to severe-profound (Sensitivity: 96%, Specificity 94%, p < .001)., Conclusions: The FST-ID presents high-psychometric properties and requires less than 5 min to complete. Using this tool may support efficient screening practices and improved supports for adults with intellectual disability., (© 2022 John Wiley & Sons Ltd.)

Purpose: In this study, the effect of a remotely supervised, home-based, family-centered individualized rehabilitation program of motor activities for individuals with Rett syndrome (RTT) was evaluated., Materials and Methods: Thirteen participants with classic genetically confirmed RTT followed by a three-month program of motor activities at home. A total of 47 rehabilitative goals were set. Goals achievement, motor function, and parental satisfaction were evaluated. Each program was carried out by the participant's parents and remotely supervised via Skype calls, twice by a therapist experienced in RTT rehabilitation., Results: Thirty-seven (78.7%) rehabilitative goals were achieved or overachieved. Ten participants (76.9%) significantly increased their gross motor functional level with a medium size effect (0.604). Parental reports of the involved families suggest, on average, a high level of usefulness of the program (4.4/5), adherence to the program (4.4/5), and general satisfaction (4.5/5)., Conclusions: Our findings strongly support the implementation of such programs for this population. As these programs were remotely supervised, they can be implemented when the children are away from referenced facilities for long durations, such as during long holidays or a Covid-19 type lockdown.Implications for rehabilitationA remote supervised motor activity program carried out by the primary caregiver supports motor functioning in RTT.Therapists should consider family members' motivation to carry out the activities and integrate them into the family's daily routine.The program should be flexible to adapt to any sudden change in medical and environmental conditions, functional ability, and family members' motivational levels.

COVID-19 Lockdown was particularly challenging for most mothers of people with intellectual disabilities, including those with Rett syndrome (RTT), leading to feelings of abandonment from healthcare services of their children. Within those days, telerehabilitation has represented a valid alternative to support physical activity and treatment, supporting parents in structuring their children's daily routine at home. This article aims to describe the well-being level of two groups of mothers of girls and women with RTT who were involved in a home-based remotely supervised motor rehabilitation program, respectively, before and during the COVID-19 Italian lockdown. Forty participants with classic RTT were recruited before the lockdown and randomly assigned to two groups that performed the intervention immediately before (Group 1) and during (Group 2) the lockdown, respectively. The intervention included an individualized daily physical activity program carried out for 12 weeks by participants' parents and fortnightly supervised throughout Skype contacts to plan, monitor, and accommodate individual activities in the participant's life at home. The short form Caregivers Well-Being Scale was collected for the mothers in each group 12 weeks before intervention (T1), at intervention initiation (T2), immediately after intervention termination (T3), as well as at 12 weeks after intervention termination (T4). Mothers of participants in the Group 1 showed a stable level of well-being across all four evaluations with a slight improvement during the lockdown, without significant change. Similarly, the well-being level of mothers in the Group 2 showed a statistically significant increase in their well-being between T2 and T3 (during the lockdown) and its reduction to the pre-intervention level between T3 and T4 (after the lockdown). The results suggest that the lockdown did not negatively affect the participants' mothers' well-being, leading to its improvement. Moreover, the proposed intervention could have supported the mothers in managing the new daily routine at home, positively affecting maternal well-being., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zwilling, Romano, Favetta, Ippolito and Lotan.)

Background: A scoliosis prevalence of 94% was reported in the population with Rett syndrome (RTT), with an annual progression rate of 14 to 21° Cobb which may result in pain, loss of sitting balance, deterioration of motor skills, and lung disfunction. This paper describes the efficacy of an intensive conservative individualized physical and postural activity program in preventing scoliosis curvature progression in patients with RTT., Methods: Twenty subjects diagnosed with RTT and scoliosis were recruited, and an individualized intensive daily physical activity program was developed for each participant. Each program was conducted for six months by participants' primary caregivers in their daily living environment. Fortnightly remote supervision of the program implementation was provided by an expert therapist. Pre- and post-intervention radiographs and motor functioning were analyzed., Results: An averaged progression of +1.7° ± 8.7° Cobb, over one year (12.3 ± 3.5 months) was observed in our group, together with motor function improvements. A relation between curve progression and motor skill improvement was observed., Conclusions: The intervention prevented scoliosis progression in our group. The achievement of functional motor improvements could enable better body segment control and muscle balancing, with a protective effect on scoliosis progression. The intervention was effective for individuals with RTT across various ages and severity levels. Individual characteristics of each participant and the details of their activity program are described.

Balance problems have been found among 57% of adults with Intellectual Developmental Disorder (IDD). Moreover, these adults have only partially participated in conventional activity programs. There is a clear need for new interventions that will enhance these individuals' interest and motivation toward improving their balance skills. Virtual gaming training experiences are a promising prospect in that regard. The purpose of this study was to examine the effect of virtual reality games on improving balance for adults with IDD. We recruited 31 individuals with mild-moderate IDD who had fallen at least twice in the year prior to initiating this intervention, and we evaluated these participants using the Timed Up and Go (TUG) test. The participants were randomly assigned to control and experimental groups, and only the latter group took part in a series of twelve 30-minute bi-weekly virtual game sessions, designed to improve balance using the SeeMe virtual game system. We found significant (p <  .001) pre-post improvements in balance abilities in the experimental group and no significant pre-post change in the control group (p <  .77). These data suggest that virtual game technology is a viable tool for improving balance among adults with IDD.

Individuals with Rett syndrome (RTT) experience impaired gross motor skills limiting their capacity. Therefore, they need support to participate in physical activities, and it is crucial to work with primary caregivers when developing appropriate strategies, thereby leading to an active lifestyle. There is limited evidence supporting the effectiveness of remotely supported physical activity interventions. This project aimed to evaluate the effects of a skype-based, telehealth-delivered physical activity program carried out by participants' parents at home. This article will focus on parental points of view. A mixed-methods design evaluating parental satisfaction was conducted. Forty participants with a confirmed genetic diagnosis of RTT and their families were recruited. The intervention included a 12-week individualized daily physical activity program carried out by participants' parents and bi-weekly supervised by expert therapists. Parents' impressions and feelings related to the program implementation were collected throughout semi-structured interviews, and an ad hoc developed questionnaire and discussed. The current project results suggest that a remote physical rehabilitation program, supported fortnightly by video calls, represents an effective way of conducting a remote physical therapy intervention for this population and that it can be easily carried out at home by primary caregivers, promoting positive functional changes, without bringing feelings of frustration due to the required workload. The strategies that families have learned during the program to support the motor activities of their daughters represent an easily performed set of tools that they can maintain and use in everyday life even after the cessation of the program., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Lotan, Ippolito, Favetta and Romano.)

Background : Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Methods : Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. Goal Attainment Scaling was used to evaluate progress and a parental satisfaction questionnaire was administered. Results : Four goals were established for each participant and progress was greater than would be expected in 16 of 20 goals. Parents evaluated the program as feasible and useful for their daughters. Discussion : A telehealth model of home-based intervention supported individuals with RTT to achieve gross motor skills and was found to be feasible. This model is important at present times during COVID-19 outbreak and lockdown.

Pain is difficult to assess in non-verbal populations such as individuals with intellectual and developmental disability (IDD). Due to scarce research in this area, pain assessment for individuals with IDD is still lacking, leading to maltreatment. To improve medical care for individuals with IDD, immediate, reliable, easy to use pain detection methods should be developed. The goal of this preliminary study was to examine the sensitivity of acoustic features of vocal expressions in identifying pain for adults with IDD, assessing their feasibility as a pain detection indicator for those individuals. Such unique pain related vocal characteristics may be used to develop objective pain detection means. Adults with severe-profound IDD level ( N = 9) were recorded in daily activities associated with pain (during diaper changes), or without pain (at rest). Spontaneous vocal expressions were acoustically analyzed to assess several voice characteristics. Analyzing the data revealed that pain related vocal expressions were characterized by significantly higher number of pulses and higher shimmer values relative to no-pain vocal expressions. Pain related productions were also characterized by longer duration, higher jitter and Cepstral Peak Prominence values, lower Harmonic-Noise Ratio, lower difference between the amplitude of the 1st and 2nd harmonic (corrected for vocal tract influence; H1H2c), and higher mean and standard deviation of voice fundamental frequency relative to no-pain related vocal productions, yet these findings were not statistically significant, possibly due to the small and heterogeneous sample. These initial results may prompt further research to explore the possibility to use pain related vocal output as an objective and easily identifiable indicator of pain in this population., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Icht, Wiznitser Ressis-tal and Lotan.)

Introduction: Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT., Methods and Analysis: This is a multicentre study, conducted in Australia, Denmark and Israel. It is a randomised waitlist-controlled trial comparing an intervention to support physical activity with usual care. Participants are children and adults with RTT, recruited from the Australian Rett Syndrome Database, the Danish Center for Rett Syndrome and the Rett Syndrome Association of Israel. The intervention duration is 12 weeks, including fortnightly telephone contact to plan, monitor and develop individual activity programmes. Outcomes are measured at baseline, at 13 weeks and then at 25 weeks. The primary outcomes are sedentary behaviour assessed with an activPAL accelerometer and the number of daily steps measured with a StepWatch Activity Monitor. Secondary outcomes include sleep, behaviour and quality of life. Caregiver experiences will be assessed immediately after the intervention using a satisfaction questionnaire. Group differences for each outcome will be evaluated with analysis of covariance, adjusting for baseline values on an intention-to-treat basis., Ethics and Dissemination: Ethics approval has been obtained in Western Australia from the Child and Adolescent Health Services (RGS3371), in Denmark from the Capital Region Ethics Committee (H-19040514) and in Israel from the Ariel University Institutional Review Board (AU-HEA-ML-20190331). Manuscripts on the development of the intervention from pilot work and the results of the intervention will be submitted to peer-reviewed journals. Results will be presented at conferences and consumer forums. We will develop an online resource documenting the physical activity programme and available supporting evidence., Trial Registration Number: NCT04167059; Pre-results., Competing Interests: Competing interests: JD is employed at Telethon Kids Institute where she is program head of Child Disability. The protocol for this study was developed for this grant received from Rettsyndrome.org. The authors do not have competing interests to declare in relation to this study., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives: We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians., Methods: An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions., Results: Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended., Conclusion: A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.

Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome., Methods: We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment., Results: There is little published information on management of hand function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning., Conclusion: Additional studies are needed to determine the best treatments for hand function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor control and motor learning.

Recent research findings suggest that many children with Autism Spectrum Disorders (ASD) demonstrate delayed and atypical motor achievements. It has now become clear that a more holistic, integrative and multi-disciplinary intervention is required to effectively address the motor-related impairments of this population. It is also crucial to ensure that this group of clients has access to early physical therapy (PT) interventions. Despite accumulating research on physical interventions, little is known about intervention model for implementation at a national level. This report introduces a model that uniquely illustrates implementation of PT services for a large number of children with ASD. The model has been operating for the past 2 years in one country (Israel), and includes an optional implementation model of PT practice settings for young children diagnosed with ASD. The Israeli setting offers a unique opportunity for implementing PT services for a multitude of children with ASD on a regular basis as an accepted/needed service. The initial outcomes of the present implementation suggest that an intensive PT intervention program might enhance therapeutic outcomes for this population, and contribute to our knowledge on the potential of PT for individuals with ASD.

Introduction: Adults with intellectual disabilities have higher rates of mental ill-health and problem behaviors than the general population., Method: In this study, we present data on trends in challenging behavior in residential care centers in Israel from 1998 to 2008 and further data on trends in employment of psychiatrists from 1998 to 2009 and psychotropic medication use from 1998 to 2008. Data was collected from annual questionnaires sent out to all residential care centers in Israel, from the Office of the Medical Director, Division for Intellectual and Developmental Disabilities, Ministry of Social Affairs and Social Services., Results: Rates of challenging behaviors in people with intellectual disabilities living in residential care centers in Israel continues to rise. Alongside this, trends in regular psychotropic medication use also continues to increase., Conclusion: Consideration of biological, psychological, social, and environmental factors in the assessment and management of people with intellectual disabilities and challenging behaviors is important. This is best conducted using a multidisciplinary approach, which may include psychiatric assessment. Non-pharmacological interventions should always be considered either alongside, or instead of medication.

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder where patients exhibit impairments in speech production. Few studies have investigated the influence of music interventions on vocal abilities of individuals with PD., Objectives: To evaluate the influence of a group voice and singing intervention on speech, singing, and depressive symptoms in individuals with PD., Methods: Ten patients diagnosed with PD participated in this one-group, repeated measures design study. Participants received the sixty-minute intervention, in a small group setting once a week for 20 consecutive weeks. Speech and singing quality were acoustically analyzed using a KayPentax Multi-Dimensional Voice Program, voice ability using the Voice Handicap Index (VHI), and depressive symptoms using the Montgomery and Asberg Depression rating scale (MADRS). Measures were taken at baseline (Time 1), after 10 weeks of weekly sessions (Time 2), and after 20 weeks of weekly sessions (Time 3)., Results: Significant changes were observed for five of the six singing quality outcomes at Time 2 and 3, as well as voice range and the VHI physical subscale at Time 3. No significant changes were found for speaking quality or depressive symptom outcomes; however, there was an absence of decline on speaking quality outcomes over the intervention period., Conclusions: Significant improvements in singing quality and voice range, coupled with the absence of decline in speaking quality support group singing as a promising intervention for persons with PD. A two-group randomized control study is needed to determine whether the intervention contributes to maintenance of speaking quality in persons with PD.

Introduction: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT., Objective: Assessing functional abilities of individuals with RTT due to CE intervention., Design: A single subject, AB design. method: This study assessed the functional skills of three girls with RTT aged 3-5 years before and during participation in a CE programme., Results: Gross motor function improvements were observed at the end of the intervention period. Gross motor skills declined slightly in all participants over the summer holidays but improved again a few months after recommencement of the educational year., Conclusion: Replication of this study with more subjects is justified as is comparison with other educational methods. A home intervention programme should be constructed to prevent decline of skills over the summer vacation.

In 1998, a questionnaire was developed by the Health Services, Office of the Medical Director at the Ministry of Social Affairs and Social Services. This questionnaire was aimed to assess, on a yearly basis, the health of the residents with intellectual disability and the services provided to them by specific residential care centers within Israel. The present study was conducted to examine trends in the number of children with intellectual disability in residential care centers in Israel during 1999-2008. We demonstrated a clear downward trend with regard to the percent of children living in residential care facilities, from 18.1% of the total population in 1999 to 12.8% in 2008.

In Israel, the Office of the Medical Director of the Ministry of Social Affairs is responsible for the medical service in residential-care centers for persons with intellectual disability (ID). A standard annual questionnaire was developed during 1997-1998, and the first national survey study was conducted in 1998. This present paper presents the findings of the seventh national survey in 2007, for which the following information was gathered via questionnaires: age, gender, and level of intellectual disability of persons served at the residential care center in question, status of the population served, functional profile, nursing, medical, and allied professional staff, number of annual examinations, preventive medicine aspects, medications, number of annual cases of infectious disease, annual unintentional injuries, number of deaths, number of hospitalizations, internal residential center hospitalization, ambulatory out-patient use, use of outside laboratory examinations, and dental care. In 2007, 6,872 persons were served in 9 government, 37 private, and 13 public centers. The average number of persons served per center was 116.47 (range 24 to 341). The survey in 2007 showed that 79% of the population with ID in residential care in Israel was between the ages of 20 and 60 years old, 44% with severe or profound ID, 43% with moderate and 13% with mild ID. Twenty-seven percent were nursing patients, and 18% were confined to a wheelchair, 34% had epilepsy, 86% were found to be receiving medication daily for chronic illness, and 51% received psychotropic medication for psychiatric illness.

Individuals with intellectual and developmental disabilities (IDD) are in need of effective and motivating physical fitness training programs. The aim was to test the effectiveness of a virtual reality (VR)-based exercise program in improving the physical fitness of adults with severe IDD when implemented by on-site caregivers. A research group (N=20; mean age+/-standard deviation=47.9+/-8.6 years; severe IDD level) was matched for age, IDD level and functional abilities with a comparison group (N=24, mean age=46.2+/-9.3 years; severe IDD level). An 8-week fitness program consisting of 2-3 30-min sessions per week included game-like exercises provided by the IREX/GX video capture VR system. Changes in physical fitness were monitored by changes in heart rate at rest. A significant (P<0.005) reduction in heart rate was demonstrated for the research group. No change in heart rate was monitored in the comparison group. Despite statistically significant improvements in heart rate, the results are not strong enough functionally to claim that this program improved physical fitness of individuals with severe intellectual disability.

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.

Background: The Snoezelen is a multisensory intervention approach that has been implemented with various populations. Due to an almost complete absence of rigorous research in this field, the confirmation of this approach as an effective therapeutic intervention is warranted., Method: To evaluate the therapeutic influence of the Snoezelen approach. Twenty-eight relevant articles relating to individual (one-to-one) Snoezelen intervention with individuals with intellectual and developmental disabilities (IDD) were reviewed. A meta-analysis regarding the significance of the reduction of maladaptive behaviour and the enhancement of adaptive behaviour was implemented. An analysis of standardised mean differences was used through the use of fixed effect models., Results: The primary finding was that the Snoezelen approach, when applied as an individual intervention for individuals with IDD, enabled significant and large effect size in adaptive behaviours, with generalisation to the participants' daily life., Conclusions: Weaknesses in the examined research methodologies, the heterogeneity between research designs, the small number of available research projects, and the small number of participants in each research project, prevent a confirmation of this method as a valid therapeutic intervention at this time.

Unlabelled: Despite enhanced interest in manifestations of pain in adults with intellectual and developmental disabilities (IDD), the characteristics of pain behavior in this group have seldom been examined. The aim of the present study was to provide a sensitive pain behavior scale for adults with IDD. The participants, 228 adults (mean age, 38.7 years) with different levels of IDD, were videotaped before and during an influenza vaccination and scored using the Non-Communicating Children's Pain Checklist-Revised (NCCPC-R). Observed pain behaviors not captured by the NCCPC-R, was also registered. Sensitivity to pain of all 27 items was examined by Signed Rank test, internal consistency by Cronbach's alpha, and sensitivity to change of the total scale by Standardized Response Mean (SRM). Thirteen items were excluded from the original NCCPC-R scale; 4 new items were added, making a modified scale of 18 items. This scale, named the Non-Communicating Adults Pain Checklist-Revised (NCAPC), was rescored and examined for psychometric properties in a random sample (N = 89). Sensitivity to pain of all items (P < .05) and high internal consistency (alpha = 0.773) were demonstrated. Large sensitivity to pain at all levels of IDD was shown (SRM, 1.20 to 2.07). Better psychometric properties were demonstrated for NCAPC than NCCPC-R in the target population., Perspective: This article presents initial psychometric properties of a new measure, the NCAPC, evaluating pain behavior in adults with IDD. This measure could help clinicians to better capture pain expressions in this population and contribute to better pain management for this group of patients.

Individuals with intellectual and developmental disabilities (IDD) are in need of effective physical fitness training programs. The aim was to test the effectiveness of a Virtual Reality (VR)-based exercise program in improving the physical fitness of adults with IDD. A research group (N=30; mean age=52.3+/-5.8 years; moderate IDD level) was matched for age, IDD level and functional abilities with a control group (N=30, mean age=54.3+/-5.4 years). A 5-6 week fitness program consisting of two 30 min sessions per week included game-like exercises provided by the Sony PlayStation II EyeToy VR system. Changes in physical fitness were monitored by the Energy Expenditure Index (EEI), the modified 12 min walk/run and the Total Heart Beat Index (THBI). Significant (p<0.05) improvements in physical fitness were demonstrated for the research group in comparison to the control group for the Modified Cooper test and the THBI but not for the EEI test. The EEI, Modified Cooper and THBI tests were found feasible to evaluate physical fitness levels and change of individuals with IDD under clinical conditions. VR technology intervention was suitable for adults with IDD and resulted in significant improvements in the physical fitness levels of the participants.

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.

The present study investigated whether the level of cognitive impairment (CI) affects acute pain behavior and how it is manifested. Participants were 159 individuals (mean age 42+/-12), 121 with CI (divided into four groups according to the level of CI: mild, moderate, severe, profound) and 38 with normal cognition (controls). The behavior of the participants before and during acute pain (influenza vaccination) was coded by two raters with the Facial Action Coding System (FACS - scores facial reactions to pain) and the Non-Communicating Children's Pain Checklist (NCCPC-R - scores both facial and general body reactions). Individuals with severe-profound CI exhibited elevated FACS and NCCPC-R values at baseline compared with all other groups (p<0.01). Both FACS and NCCPC-R scores of individuals with mild-moderate CI and controls increased significantly during vaccination (p<0.001). In contrast, individuals with severe-profound CI exhibited high rates of "freezing reaction" (stillness) during vaccination, manifested mainly in the face and therefore resulting in elevation of only NCCPC-R scores but not of FACS's. The results suggest that the level of CI affects baseline as well as pain behavior and it is therefore necessary to choose an appropriate behavioral tool to measure pain in these individuals accordingly. For example, tools based on facial reactions alone might provide the false impression that individuals with severe-profound CI are insensitive to pain (due to freezing).

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.