A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown.

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.

Development of a tool to assess visual attention in Rett syndrome: a pilot study.

This was a two-phase study that aimed to (a) develop a tool for assessing visual attention in individuals with Rett syndrome using AAC with a communication partner during naturalistic interactions in clinical settings; and (b) explore aspects of the tool's reliability, validity, and utility. The Assessment of Visual Attention in Interaction (AVAI) tool was developed to assess visual attention operationalized as focused gazes (1 s or longer) at the communication partner, an object, and a symbol set. For the study, six video-recorded interactions with nine female participants diagnosed with Rett syndrome (range: 15-52-years-old) were used to calculate intra- and inter-rater agreement, and 18 recorded interactions were analyzed to examine sensitivity to change and acceptability. There was a significant difference in the AVAI results between two conditions (with and without aided-language modeling). Inter-rater agreement ranged from moderate and strong. There was a range in scores, indicating that the AVAI could differentiate between participants. The AVAI was found to be reliable, able to detect change, and acceptable to the participants. This tool could potentially be used for evaluating interventions that utilize aided AAC.

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome.

Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements and recommendations extracted from a review of over 300 pieces of literature combined with survey responses from communication professionals and caregivers. All statements that reached a pre-determined threshold of ≥70% agreement were incorporated into guidelines that consist of 268 statements and recommendations relating to (a) rights of the individual; (b) beliefs and attitudes of communication partners; (c) professional knowledge and team work; (d) strategies to optimize engagement; (e) assessment; and (f) intervention (targets and goals, techniques), including the use of AAC. To date, this project is the largest of its kind, with 650 participants from 43 countries contributing to development of consensus-based guidelines for Rett syndrome.

Rehabilitation interventions in Rett syndrome: a scoping review.

AIM: To summarize existing interventions and their outcomes in Rett syndrome (RTT) rehabilitation and identify gaps in the literature. METHOD: Five databases (Ovid MEDLINE, Ovid Embase Classic, Ovid PsycINFO, EBSCO CINAHL Plus, and ProQuest ERIC) were systematically searched up to 23rd July 2018 for studies describing rehabilitation interventions. Data on study participants, design, and outcomes were extracted. RESULTS: Sixty-two articles were included in the final review. Evidence consistently demonstrated that females with RTT can improve their gross motor, fine motor, and communicative skills with rehabilitation. All 11 interventions targeting gross motor function, namely ambulation, achieved functional improvements. Twenty of 24 articles describing fine motor rehabilitation studies succeeded in decreasing stereotypies, improving functional hand use, and/or reducing self-injurious behaviors. Twenty-one of 22 studies describing communication interventions succeeded in training choice-making, communicative language, or socialization behavior. Other key findings include the positive interplay between physical and communicative rehabilitation outcomes, and the ability of females with RTT to improve their cognitive abilities during intervention. INTERPRETATION: Rehabilitation can impact the daily lives of females with RTT and their caregivers in clinically meaningful ways.

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome.

BACKGROUND: Girls and women with Rett Syndrome (RTT) have low levels of daily physical activity and high levels of sedentary time. Reducing sedentary time and enhancing "uptime" activities, such as standing and walking, could be an important focus for interventions to address long-term health and quality of life in RTT. OBJECTIVE: The aim of the study was to evaluate the feasibility and health-related effects of an individualized 12-week uptime participation (U-PART) intervention in girls and women with RTT. DESIGN: The study used a single-group pretest-posttest design with 4 assessments (2 baseline, postintervention, and follow-up). METHODS: A participation-based intervention employing a whole-day approach was used. During a 12-week intervention period, individualized programs focused on participation in enjoyable uptime activities in home, school/day center, and community settings. Feasibility was assessed with a study-specific questionnaire. Primary outcome measures were sedentary time and daily step count. Secondary outcomes were gross motor skills, walking capacity, quality of life, and goal attainment scaling. RESULTS: Fourteen girls and women who were 5 to 48 years old and had RTT participated. The U-PART intervention was perceived as feasible by caregivers. Similar scores were observed at baseline assessments in all outcomes. Positive effects with small to medium effect sizes (0.27-0.54) were seen in sedentary time (- 4%), daily step count (+ 689 steps/d), walking capacity (+ 18.8 m), quality of life (+ 2.75 points), and goal attainment scaling after the intervention. Positive effects were maintained in sedentary time (- 3.2%) and walking capacity (+ 12.1 m) at short-term follow-up. LIMITATIONS: This study was limited by the lack of a control group. However, participants acted as their own control, and the stable baseline period partially mitigated this issue. CONCLUSIONS: The U-PART intervention was found to be feasible and effective in the short term in girls and women with RTT.

Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review.

In recent years, much attention has been paid to motor impairment of persons with Rett Syndrome (RTT), with increasing literature aimed to describe gross motor functioning and musculoskeletal disorders of the RTT population. The aim of this systematic review is to describe clinical evaluation tools used in the last decade to assess motor functioning and musculoskeletal abnormalities of patients with RTT. Thirty-four studies were reviewed and 20 tools were presented. Results showed that only two tools were used to measure functional change after rehabilitative or therapeutic interventions. This review underlies the lack of adequate evaluation tools to assess musculoskeletal abnormalities and deformities in RTT population. The absence of these assessments could be due to a statistical difficulty as it is challenging to build an evaluation tool that can score the entities of the abnormalities related to the amount of disability they cause.

Efficacy of an Aquatic Exercise Program for 3 Cases of Rett Syndrome.

PURPOSE: To examine functional, physiological effects of participating in an aquatic exercise program by 3 girls, diagnosed with Rett syndrome (RS), to explore areas for possible new research. SUMMARY OF KEY POINTS: RS is a severe neurodevelopmental disorder, which causes multiple disabilities and serious impairments in neuromotor and cognitive abilities. Three girls (4, 6, and 7 years), diagnosed stage III RS, participated in 20 months of aquatic exercise, with individually tailored, full body exercises, progressively targeting functional, cardiorespiratory, muscle, and flexibility training. Assessments included resting and exercise heart rates, anthropometric measures, functional, clinical aspects, and psychosocial abilities. CONCLUSIONS: The participants improved functional ability, mood status, relations with family and schoolmates, joint mobility, muscle strength, and endurance during functional activities. Periodic evaluation of exercise heart rates averaged an increase in intensity of 33% above baseline, indicating cardiorespiratory stimulus. This pilot program provides clinical rationale for future studies and clinical interventions for RS children.

Monitoring Procedural Pain and Distress in a Child With Rett Syndrome: A Case Report.

BACKGROUND AND PURPOSE: Whole body vibration training is a viable option for children with Rett syndrome; however, the positioning requirements and intense vibration may be interpreted as pain. CASE: A 13-year-old girl with a diagnosis of Rett syndrome, Stage IV, participated. The Individualized Numeric Rating Scale was developed in collaboration with the caregiver and scored by a physical therapist and student physical therapists during 16 sessions of whole body vibration training. OUTCOMES: The therapist and students reached 100% agreement on the Individualized Numeric Rating Scale ratings and successfully provided distractions to prevent pain and distress from reaching a level 5 out of 10 for 139 of 144 sessions. CONCLUSION: This is the first case in the literature to demonstrate use of the Individualized Numeric Rating Scale with a child who is nonverbal during a potentially painful physical therapy procedure.

Experimental Examination and Social Validation of a Microswitch Intervention to Improve Choice-Making and Activity Engagement for Six Girls with Rett Syndrome.

Background: The use of assistive technology, specifically microswitches, with children with RTT has been shown to effectively moderate the impact of their disability on their quality of life- by facilitating access to meaningful leisure and other activities. Objectives: This study aimed to evaluate the effectiveness of a microswitch intervention on increased choice making, engagement in a targeted sorting activity, and indices of happiness, and decreased stereotypic behaviors for six girls with Rett syndrome. Targeted dependent variables were also assessed at six months post-intervention. Following the intervention study, 90 external raters completed a social validation procedure. Method: An ABABAB experimental sequence was implemented for each participant with a cross-over effect. A social validation assessment involving 90 external raters was carried out. Results: Data emphasized an improved performance for each participants involved (i.e., adaptive responses). Five participants showed a capacity of independent choice. One participant seemed to be closely linked to the position of the container. Social raters favorably endorsed the use of the program since they positively evaluated the use of the technology on all the dimensions investigated. Conclusion: A microswitch intervention may improve choice making and activity engagement for children with Rett syndrome. Further research is needed on the development of more sophisticated forms of individualized technological options to improve opportunities for enhanced engagement and choice-making for individuals with RTT.

Parents' perception of health care services for girls with Rett syndrome.

BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder, implying impairment and disability across several domains. METHOD: We investigated parents' perception of the caregiving process in a sample of 55 mothers and fathers of girls with RTT using the MPOC-20 questionnaire. The association of parents' satisfaction with clinical variables has also been explored. RESULTS: We obtained intermediate levels of satisfaction on the MPOC-20 Coordinated and Comprehensive Care and Respectful and Supportive Care scales. The performance was lower on the scales Providing General Information and Providing Specific Information. Mothers' assessment was not associated with clinical variables such as walking disability, presence of scoliosis, or epilepsy. For children with greater degree of walking impairment, fathers expressed the need of having more information available. CONCLUSIONS: Although parents seemed satisfied of the caregiving process, clinicians should put more emphasis on their need of receiving general and specific information on RTT along the entire rehabilitation program.

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome.

BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder leading to multiple disabilities and high dependency on caregivers. This study aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristics with sedentary time. METHODS: All Danish females with RTT older than 5 years of age and with a MECP2 mutation were invited to participate. The activPAL and StepWatch Activity Monitor (SAM) were worn by participants for at least four days. Sedentary time and step counts were plotted by time to examine daily activity patterns. Associations between sedentary time and individual and environmental covariates were assessed with linear regression models. RESULTS: The median (interquartile range) age of participants was 22.0 (14.3-36.5) years. On average 83.3% (standard deviation 13.9%) of waking hours were spent in sedentary behaviours (n = 48) and the median (interquartile range) daily step count was 5128 (2829-7704) (n = 28). Females older than 33.5 years, and those unable to walk independently were more sedentary. CONCLUSIONS: This study demonstrated high levels of sedentary time and low daily step counts in a Danish population of females with RTT. Advancing age and lower walking skills were associated with higher levels of sedentary time. Implications for Rehabilitation Sedentary lifestyles in individuals with disabilities have a negative impact on health and quality of life. High levels of sedentary time and low daily step counts were demonstrated in a Danish population of females with Rett syndrome. Advancing age and inability to walk independently were strongly associated with higher levels of sedentary time in females with Rett syndrome. Understanding patterns of sedentary behaviour and physical activity can aid health care professionals in developing health-promoting physical activity interventions.

Using eye-tracking technology for communication in Rett syndrome: perceptions of impact.

Studies have investigated the use of eye-tracking technology to assess cognition in individuals with Rett syndrome, but few have looked at this access method for communication for this group. Loss of speech, decreased hand use, and severe motor apraxia significantly impact functional communication for this population. Eye gaze is one modality that may be used successfully by individuals with Rett syndrome. This multiple case study explored whether using eye-tracking technology, with ongoing support from a team of augmentative and alternative communication (AAC) therapists, could help four participants with Rett syndrome meet individualized communication goals. Two secondary objectives were to examine parents' perspectives on (a) the psychosocial impact of their child's use of the technology, and (b) satisfaction with using the technology. All four participants were rated by the treating therapists to have made improvement on their goals. According to both quantitative findings and descriptive information, eye-tracking technology was viewed by parents as contributing to participants' improved psychosocial functioning. Parents reported being highly satisfied with both the device and the clinical services received. This study provides initial evidence that eye-tracking may be perceived as a worthwhile and potentially satisfactory technology to support individuals with Rett syndrome in communicating. Future, more rigorous research that addresses the limitations of a case study design is required to substantiate study findings.

Activities that girls and women with Rett syndrome liked or did not like to do.

OBJECTIVE: Activities occur in all people's lives. This study investigated over a period of time, 15 years, what activities were enjoyed or not enjoyed and what activities parents and staff liked to do with girls/women with Rett syndrome. METHOD: A descriptive study was conducted using secondary data from three earlier questionnaires at the Swedish National Rett Center. The first questionnaire provided data on 123 girls/women with Rett syndrome, the second on 52 and the third questionnaire, on 39. Informants were parents and/or staff, in total 365. Open-ended questions were analysed using a content analysis approach. RESULTS: Three categories appeared: Being in motion, receiving impressions and having contact. Bathing/swimming, listening to music and being outdoors/walking were the most enjoyed activities over the years. Of the few activities that were reported as being unenjoyable, most were daily care activities. The activities that the parents/staff enjoyed doing with the girls/women were similar to those the girls/women themselves liked to do. CONCLUSION: A preliminary overview for both liked and disliked activities of girls/women with Rett syndrome was presented. This knowledge could facilitate the choice and use of activities.

Building the repertoire of measures of walking in Rett syndrome.

BACKGROUND: The repertoire of measures of walking in Rett syndrome is limited. This study aimed to determine measurement properties of a modified two-minute walk test (2MWT) and a modified Rett syndrome-specific functional mobility scale (FMS-RS) in Rett syndrome. METHODS: Forty-two girls and women with Rett syndrome (median 18.4 years, range 2.4-60.9 years) were assessed for clinical severity, gross motor skills, and mobility. To measure walking capacity, 27 of this group completed a 2MWT twice on two different assessment days. To assess walking performance, the FMS-RS was administered to the total sample of parents (n = 42) on two occasions approximately one week apart. RESULTS: There were negative correlations between clinical severity and 2MWT (r = -0.48) and FMS-RS (r = -0.60-0.66). There were positive correlations between gross motor skills and mobility and 2MWT (r = 0.51, 0.43) and FMS-RS (r = 0.71-0.93, 0.74-0.94), respectively. Test-retest reliability for the 2MWT was good with high intraday and interday correlations (ICC = 0.86-0.98). For the 2MWT, the standard error of measurement was 13.8 m and we would be 95% confident that changes greater than 38 m would be greater than within subject error. There was good test-retest reliability for all three distances on the FMS-RS (ICC = 0.94-0.99). CONCLUSIONS: Walking capacity as measured by the 2MWT showed expected but limited relationships with measures of different constructs, providing some support for concurrent validity. Walking performance as measured with the FMS-RS was more strongly consistent with other clinical measures supporting its concurrent validity. Test-retest reliability was good for both the FMS-RS and the 2MWT. Therefore, these measures have the potential to be used in clinical practice and research. Implications for Rehabilitation Walking is one of the commonest daily physical activities in ambulant girls and women with RTT. Comprehensive knowledge about the walking abilities in this population is limited. Evidence of validity and test-retest reliability have been demonstrated for the modified two-minute walk test (2MWT) and the Rett syndrome-specific functional mobility scale (FMS-RS). The 2MWT and FMS-RS offer detailed information of the capacity and performance of walking, respectively, in girls and women with RTT.

Síndrome de Rett: uma revisão da literatura / Rett Syndrome: a review of the literature

Síndrome de Rett (SR) é uma desordem neurológica severa do desenvovimento, e a sua incidência é de 1:10.000 nascimentos do sexo feminino, uma das causas genéticas mais comuns de atraso mental severo em mulheres. O desenvolvimento é aparentemente normal nos primeiros seis a 18 meses de vida até que ocorre a regressão das habilidades cognitivas, sociais e motoras. A progressão e severidade da desordem são avaliadas de forma clássica e divididas em estágio I, de estagnação precoce, estágio II, rapidamente destrutivo, estágio III, pseudo estacionária, e estágio IV, de deterioração motora tardia. As mutações no gene ligado ao X metil-CpG de ligação a proteína 2 (MECP2) está presente na maioria das pacientes com a SR. O tratamento fisioterapêutico é bastante eficaz, visto que melhora ou mantém as capacidades funcionais, funções sensoriais e motoras na SR. Benefícios estes que causam grande impacto na qualidade de vida desses indivíduos com deficiências severas.

Rett syndrome (RS) is a severe neurological developmental disorder, and its incidence is 1: 10,000 female births, one of the most common genetic causes of severe mental retardation in females. The development is apparently normal in the first six to 18 months of life until regression occurs cognitive, social and motor skills. The progression and severity of the disorder are assessed and classically divided into stage I, early stagnation, stage II, rapidly destructive, stage III, stationary pseudo, and stage IV, the late motor deterioration. Mutations in the X-linked gene 2 protein binding of methyl-CpG (MECP2) is present in most patients with MR. The physical therapy is quite effective, as it improves or maintains the funcional, sensory and motor functions in SR. These benefits that greatly impact quality of life of individuals with severe disabilities.

Cognitive training modifies frequency EEG bands and neuropsychological measures in Rett syndrome.

Rett syndrome (RS) is a childhood neurodevelopmental disorder characterized by a primary disturbance in neuronal development. Neurological abnormalities in RS are reflected in several behavioral and cognitive impairments such as stereotypies, loss of speech and hand skills, gait apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. Cognitive training can enhance both neuropsychological and neurophysiological parameters. The aim of this study was to investigate whether behaviors and brain activity were modified by training in RS. The modifications were assessed in two phases: (a) after a short-term training (STT) session, i.e., after 30 min of training and (b) after long-term training (LTT), i.e., after 5 days of training. Thirty-four girls with RS were divided into two groups: a training group (21 girls) who underwent the LTT and a control group (13 girls) that did not undergo LTT. The gaze and quantitative EEG (QEEG) data were recorded during the administration of the tasks. A gold-standard eye-tracker and a wearable EEG equipment were used. Results suggest that the participants in the STT task showed a habituation effect, decreased beta activity and increased right asymmetry. The participants in the LTT task looked faster and longer at the target, and show increased beta activity and decreased theta activity, while a leftward asymmetry was re-established. The overall result of this study indicates a positive effect of long-term cognitive training on brain and behavioral parameters in subject with RS.

Technological aids to support choice strategies by three girls with Rett syndrome.

This study was aimed at extending the use of assistive technology (i.e., photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. A second purpose of the study was to reduce stereotypic behaviors exhibited by the participants involved (i.e., body rocking, hand washing and hand mouthing). Finally, a third goal of the study was to monitor the effects of such program on the participants' indices of happiness. The study was carried out according to a multiple probe design across responses for each participant. Results showed that the three girls increased the adaptive responses and decreased the stereotyped behaviors during intervention phases compared to baseline. Moreover, during intervention phases, the indices of happiness augmented for each girl as well. Clinical, psychological and rehabilitative implications of the findings are discussed.

Communication intervention in Rett syndrome: a survey of speech language pathologists in Swedish health services.

PURPOSE: To investigate communication intervention that speech language pathologists (SLPs) provide to people with Rett syndrome. METHODS: A web-based survey targeting all Swedish SLPs working with people currently receiving support from habilitation services. RESULTS: The SLPs reportedly followed recommended practice in the following aspects: (1) Information on communicative function was collected from several sources, including observation in well-known settings and reports from the client s social network, (2) Multimodal communication was promoted and, (3) Responsive partner strategies were largely targeted in the intervention. However, few instruments or standard procedures were used and partner instruction was given informally. Most SLPs used communication aids in the intervention and their general impression of using communication aids was positive. Further, augmentative and alternative communication (AAC) was estimated to increase and clarify communicative contributions from the person. CONCLUSIONS: Communication aids were reported to have a positive influence on communicative functions. Swedish SLP services followed best practice in several aspects, but there are areas with potential for development. Tools and best practice guidelines are needed to support SLPs in the AAC process for clients with Rett syndrome. [Box: see text].

Fostering Ambulation for a Preschool Child with Rett Syndrome: A Case Report.

UNLABELLED: Children with Rett Syndrome (RS) have neuromotor impairments that impact their mobility. Poor hand function among children with RS limits the selection of an assistive device for ambulation. PURPOSE: The purpose of this case report is to describe the process of selecting an assistive device for a child with RS to promote ambulation. METHOD: This single subject case reports on a 5-year-old girl with RS at a suburban mid-western early childhood special education setting. RESULTS: The child in this case was able to walk the farthest distances with a metal toy shopping cart and then with an anterior facing four-wheeled walker. CONCLUSION: The outcome suggests that physical therapists and health professionals caring for young children with RS consider using a metal toy shopping cart to establish and practice ambulation prior to selection of a longer term, adjustable anterior facing walker like the one in this case report.

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders.

BACKGROUND: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. METHODS: Twenty-six participants (mean 18 years, SD 8) wore an Actigraph, ActivPAL and StepWatch Activity Monitor (SAM) during a video-taped session of activities. Agreement was determined between step-counts derived from each accelerometer and observation. Repeatability of SAM-derived step counts was determined using pairs of one-minute epochs during which the same participant was observed to walk with the same cadence. RESULTS: The mean difference (limit of agreement) for the Actigraph, ActivPAL and SAM were -41 (SD 33), -16 (SD 21) and -1 (SD 16) steps/min, respectively. Agreement was influenced by a device/cadence interaction (p < 0.001) with greater under-recording at higher cadences. For SAM data, repeatability of step-count pairs was excellent (intraclass correlation coefficient 0.91, 95% CI 0.79-0.96). The standard error of measurement was 6 steps/min and we would be 95% confident that a change ≥17 steps/min would be greater than within-subject measurement error. CONCLUSIONS: The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials. Implications for Rehabilitation Many girls and women with Rett syndrome are able to walk on their own or with assistance but with altered movement patterns. Validated measures of physical activity, such as step counts, have potential to monitor function during daily life. Compared with other forms of accelerometer-type devices, such as ActiGraph and ActivPAL, the StepWatch Activity Monitor (SAM) measured step counts with good accuracy and repeatability. The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials.