An Intensive Anti-Scoliosis Postural Intervention Supported by an Application for Individuals With Rett Syndrome

Study Aims The current study aims to evaluate the effectiveness of an anti-scoliotic physiotherapy program carried out during daily life and focuses on hypercorrective postures and increasing the level of activity to assess whether or not it is possible to slow the progression of scoliosis in girls with Rett syndrome (RTT). The current research project has the following research objectives: * Primary objectives: 1. Build, implement and evaluate a physiotherapy program for contrasting scoliosis trajectory adapted to individuals with RTT; 2. Develop a secondary deformity prevention program through early intervention for people with RTT. * Secondary objectives: 1. Build and evaluate the efficiency of a support application for carrying out rehabilitation exercises; 2. Explore the factors influencing adherence and implementation of intervention from the perspective of both families and therapists in light abovementioned applicationd above. Study Design A randomized controlled study with a waiting list design will be applied. Ethical Issues The Ariel University Institutional Review Board (IRB) approved the study (no. AU-HEA-ML-20201019) that will be conducted according to the ethical principles of the Helsinki Declaration and local regulations. All details relating to the study procedure will be discussed with participants' parents or legal representatives, and an informed consent form will be signed for participation. Enrolment will be voluntary, with participants not receiving any financial or otherwise incentives for participation. Study Population According to a sample size calculation analysis, a group of 20 girls aged between six and 16 years with genetically confirmed classic RTT and scoliosis will be recruited from the San Paolo Hospital (Milan, Italy) or the Italian Rett Association (AIRett - Verona, Italy). Procedure The participants' parents will receive an information sheet regarding the study and informed consent for participating and collecting video materials at the recruitment. A reference telephone number and an e-mail address will be provided to be contacted in case they would like further information or would like to communicate the exit from the study. The eligibility of the candidates will be assessed at the time of recruitment (T1) through an initial neurological or physiatrist evaluation. At the same time, each participant will undergo a rehabilitation evaluation to collect the outcome measures (see section "Data collection") and create an individualized intervention plan specific to the participant's scoliosis, functional abilities, and parental/educational setting's availability. During the evaluation, the postural needs of the participants will also be identified, and a qualified technician will build or adjust the positioning devices, making them suitable for each intervention plan. Participating girls will be randomly divided into treatment (Group 1) or delayed treatment (Group 2) groups using block randomization. Participants in Group 1 will begin carrying out the rehabilitation program immediately after the first assessment session (T1). Each program will require the daily performance of different postures and therapeutic activities at the girls' educational facilities and homes, based on the availability of families, for 10 months. Specific strategies that will be implemented will include maintaining asymmetrical postures that oppose the scoliosis curve during activities and exercises in sitting, standing, and walking positions (according to each participant's functional abilities). These strategies refer to a hypercorrective postural positioning of scoliosis. In addition, activities involving weight bearing on the lower limbs, such as walking and standing for at least two hours a day, will be encouraged, and passive stretching and spinal mobilization exercises will be conducted. Participants' parents and local reference physiotherapists who will supervise the program in the educational or home setting will be involved in training sessions to learn the performance of the child's program activities. In addition, a smartphone "ActivRett" activity application will be constructed for this research. The application will be downloaded and used by the group that takes care of each participant. It will contain the participant's individualized therapeutic indications and allow the collection of data relating to the development and execution of the program. Further support for parents, caregivers, and therapists will be provided via Skype by an Italian therapist (AR) experienced in treating individuals with RTT at the program's start and every two months. These meetings will discuss the program's progress, solve problems, reorganize schedules, adjust the suggested exercises, assess the achievement of objectives, and if needed, set other goals. At the end of the intervention of Group 1 (10 months after its start), the outcome measures will be collected again for all participants (T2), and those in group 1 will be allowed to continue using the application without receiving the Skype mentioned above calls. Then, those included in Group 2 will be reevaluated and actively participate in the planned intervention, which will be carried out for the second period of 10 months. At the end of the intervention phase of Group 2, the outcome measures will be collected again for all participants (T3), and the data obtained will be analyzed by the researchers. At the end of each intervention phase, a specific questionnaire will be administered to the parents, therapists, teachers, and other caregivers involved in the intervention program mentioned above to assess the participants' satisfaction with different aspects of the intervention. Data analysis The normality of each variable's distribution will be assessed using the Shapiro-Wilk normality test. The ages, amount of received physical rehabilitation interventions, scoliotic curve degrees, behavioral characteristics, and activity and gross motor functional levels obtained at T1 will be compared between the two groups to assess their comparability through Wilcoxon's signed-rank test or Student's T-test (dependent of the variable distribution characteristics). Changes in the variables of each group at T1, T2, and T3 will be evaluated with Friedman's test or with the repeated measure ANOVA (dependent on the variable distribution characteristics). Between groups comparison for each variable collected at T1, T2, and T3 and for their variations that occurred between T1 and T2 and between T2 and T3 will be conducted using the Wilcoxon's signed-rank test or Student's T-test (dependent on the variable distribution characteristics), applying an appropriate adjustment for the age and gross motor skills of the participants. Relations will be searched between variables collected at T1 and the changes in the scoliosis curve degree and motor functioning after the treatment using Spearman's rank correlation coefficient or Pearson's correlation coefficient (dependent on the variable distribution characteristics). Moreover, a relation between the compliance with the proposed program and the changes in the scoliosis curve degree and motor functioning after the treatment will be searched using Spearman's rank correlation coefficient or Pearson's correlation coefficient (dependent on the variable distribution characteristics). The threshold for significance of the above-described analyses will be set at α = 0.05. No correction for multiple comparisons will be applied.