Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application

NCT05488938 | Completed

• 1 other identifier: AU-HEA-ML-20201019
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Rett Syndrome

Keywords

Rett Syndrome; Scoliosis; Exercise Therapy; Physical Therapy Modalities

Outcome Measures

Primary Outcomes (3)

• Scoliosis progression

  The progression of scoliosis will be assessed for each participant by measuring the differences between Cobb's angle measured on three anteroposterior X-rays of the spine collected before and after the intervention of each group. The Cobb's angle will be obtained from the average value of three measurements carried out by independent blinded (to the treatment status of each subject) medical specialists with clinical experience concerning scoliosis in Rett syndrome.

  Three days 10 months apart from each other, before the start of the Group 1 intervention (T1), before the start of the Group 2 intervention (T2), and at the end of the Group 2 intervention (T3).

• Adherence to the Program

  Adherence to the Program refers to the amount of treatment conducted by the participants compared to the total amount of treatment established in their program. It will be measured by the ad hoc developed smartphone application which will record the percentage of the performance of each activity foreseen in the programs.

  10 months during the Group 1 intervention phase.

• Adherence to the Program

  Adherence to the Program refers to the amount of treatment conducted by the participants compared to the total amount of treatment established in their program. It will be measured by the ad hoc developed smartphone application which will record the percentage of the performance of each activity foreseen in the programs.

  10 months during the Group 2 intervention phase.

Secondary Outcomes (8)

• Gross Motor Function Level

  30 minutes, before the beginning of the Group 1 intervention.

• Gross Motor Function Level

  30 minutes, before the beginning of the Group 2 intervention.

• Gross Motor Function Level

  30 minutes, at the end of the Group 2 intervention.

• Behavioral Characteristics

  15 minutes, before the beginning of the Group 1 intervention.

• Behavioral Characteristics

  15 minutes, before the beginning of the Group 2 intervention.

Study Arms (2)

Immediate intervention (Group 1)

EXPERIMENTAL

Group 1 will start the rehabilitative intervention immediately after the first evaluation (T1) and carry it out for 10 months with remote supervision until the second evaluation meeting (T2). Then they will be invited to continue the intervention for the next 10 months (between T2 and T3) until the third evaluation meeting but without remote supervision.

Other: Rehabilitative Intervention

Delayed intervention (Group 2)

EXPERIMENTAL

Group 2 will not conduct the rehabilitative intervetion between T1 and T2. They will start the rehabilitative intervention immediately after the second evaluation (T2) and carry it out for 10 months with remote supervision until the third evaluation meeting (T2).

Other: Rehabilitative Intervention

Interventions

Rehabilitative Intervention OTHER

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.

Delayed intervention (Group 2); Immediate intervention (Group 1)

Eligibility Criteria

• Age: 6 Years - 16 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Diagnosis of RTT with confirmed MECP2 gene mutation;
• Diagnosis of unstructured flexible scoliosis (Cobb angle between 10° and 40°) measured radiologically with an x-ray performed no more than six months before the recruitment;
• Age between 6 and 16 years.

You may not qualify if:

• Presence of psychomotor developmental deficit evidenced in the first six months of life or diseases of neurometabolic, infectious, or secondary brain damage trauma origin;
• Previous surgical intervention to the spine or its planning within the study period;
• Use of a corset during most waking hours;
• Clinical judgment of the evaluating specialist doctor who certifies unstable health conditions that are not compatible with the performance of the rehabilitation program (e.g., ongoing or recurrent infections, severe gastrointestinal disorders, drug-resistant epilepsy with multi-day seizures).
• Clinical judgment of the research team suggesting an inability of the home environment to perform the intervention program (change in residence, a planned pregnancy, a pre-planned complex surgical/medical procedure within the period of the planned intervention program for the child or family member) within the intervention period.

Sponsors & Collaborators

• Ariel University: lead
• ASST Santi Paolo e Carlo: collaborator

Study Sites (1)

Centro AIRETT Ricerca e Innovazione (CARI)

Verona, 37122, Italy

Location

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MeSH Terms

Conditions

Rett Syndrome; Scoliosis

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Spinal Curvatures; Spinal Diseases; Bone Diseases; Musculoskeletal Diseases

Study Officials

• Meir Lotan, PhD

  Department of Physiotherapy, School of Health Sciences, Ariel University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: The orthopedic surgeons who will evaluate the participants' Cobb's angle will be blinded concerning the group to which each participant was assigned.
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: August 1, 2022
• First Posted: August 5, 2022
• Study Start: April 1, 2021
• Primary Completion: September 30, 2023
• Study Completion: September 30, 2023
• Last Updated: January 31, 2024

Record last verified: 2024-01

Data Sharing

• IPD Sharing: Will share
• Time Frame: The IPD will be available if and when scientific articles related to this study are published. Should the data be published, they will be available indefinitely in the scientific literature.
• Access Criteria: The investigators plan to submit scientific articles related to the present study to be published in an open access peer-review scientific journal. Therefore, if the articles are published, the data will be available on the website of the journal in which they were published.

Locations

IT (1)