Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application
Condition: Rett Syndrome
MeSH terms: Scoliosis; Rett Syndrome; Syndrome
Study type: Interventional

Summary: 
      Background: Scoliosis is the most common orthopedic comorbidity in Rett syndrome (RTT), with
      a prevalence of 94% and a mean curve progression of 14-21° Cobb annually. A scoliosis
      prevention intervention based on daily activity programs was proposed for people with RTT
      within uncontrolled study designs.

      Aim: The current study aims to evaluate the effectiveness of a home-based activity program
      carried out during daily life to slow the progression of scoliosis in girls with RTT.

      Ethics: The proposal was approved by Ariel university IRB. All participants' parents will
      sign informed consent forms.

      Participants: Twenty Italian girls aged between six and 16 years with a genetically confirmed
      classic RTT and scoliosis at a severity level between 10° and 40° Cobb will be recruited and
      randomly divided into two groups (immediate intervention - Group 1; wait-list-intervention -
      Group 2). Both groups will follow the same 10-month intervention program, 10 months apart.

      Outcome measures: Participants' scoliosis Cobb's angle, motor functioning, and behavioral
      characteristics will be assessed three times.

      Procedure: Each participant will be evaluated three times: at T1, T2, and T3. Participants in
      the Group 1 will conduct the intervention for 10 months between T0 and T1. Group 2 will
      perform the intervention between T1 and T2. The interventions will comprise daily home-based
      activity programs carried out by participants' caregivers within everyday living
      environments. An expert therapist will remotely supervise each program through an ad hoc
      developed smartphone application. Specific strategies that will be implemented during the
      intervention will include the maintenance of 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.
    

Detailed description: 
      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.
    

Intervention name(s): Rehabilitative Intervention
Intervention type(s): Other
Intervention description(s): 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.
Allocation: Randomized
Intervention model: Crossover Assignment
Masking: Single (Outcomes Assessor)
Primary purpose: Treatment
Keywords: Rett Syndrome; Scoliosis; Exercise Therapy; Physical Therapy Modalities