Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial.

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.

Association of COVID-19-Related Restrictions With Changes in Functional Skills of Adults With Intellectual Disabilities in Day Programs of an Israeli Non-Profit Organization.

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.

Development and validation of a functional screening tool for adults with intellectual disabilities.

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.

Barking Up the Wrong Tree-Motor-Sensory Elements as Prodrome in Autism.

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.

Remote Physiotherapy for Children with ASD during the COVID-19 Pandemic: A Thematic Analysis of Physical Therapists' Perspectives.

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.

Use of a low-tech tool in the improvement of social interaction of patients with Rett Syndrome: an observational study.

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.

Diagnosing Pain in Individuals with Intellectual and Developmental Disabilities: Current State and Novel Technological Solutions.

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.

Psychometric Values of a New Scale: The Rett Syndrome Fear of Movement Scale (RSFMS).

(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.

The Need for a Motor Assessment Tool for Children with Autism-An Opinion Article.

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.

A Severity Comparison between Italian and Israeli Rett Syndrome Cohorts.

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.

Evaluation Tools Developed for Rett Syndrome.

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 activPALTM; (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.

The Use of the Alberta Infant Motor Scale (AIMS) as a Diagnostic Scale for Infants with Autism.

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.

The effect of group music therapy on mood, speech, and singing in individuals with Parkinson's disease--a feasibility study.

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.

A New Screening Tool for Rapid Diagnosis of Functional and Environmental Factors Influencing Adults with Intellectual Disabilities.

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.

Impact of a Remotely Supervised Motor Rehabilitation Program on Maternal Well-Being During the COVID-19 Italian Lockdown.

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.

Development and validation of a system for the prediction of challenging behaviors of people with autism spectrum disorder based on a smart wearable shirt: A mixed-methods design.

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].

Individualized Remotely Supervised Motor Activity Programs Promote Rehabilitation Goal Achievement, Motor Functioning, and Physical Activity of People with Rett Syndrome-A Single-Cohort Study.

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.

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome.

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".