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| Name | Class |
|---|---|
| ASST Santi Paolo e Carlo | OTHER |
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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.
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:
Secondary objectives:
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| 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). |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Gross Motor Function Level | The gross motor function level, including the ability to walk, will be measured for each participant during the rehabilitation assessments using the Rett Syndrome Motor Evaluation Scale. This scale includes 25 items that examine motor function divided into six sections: standing, sitting, postural transfers, walking, running, and climbing / descending stairs. Sixteen items are rated on a discrete scale, ranging from 0 (indicates no or very mild impairment) and 4 (severe impairment). Nine items related to walking skills are evaluated on a discrete scale with a score from 0 to 2 where 0 indicates that the activity could always be completed by the subject and 2 that is assigned if the item cannot be carried out. The items' scores are added together, thus giving a total RESMES score (range: 0 to 82). Moreover, a score for each section can be calculated. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Meir Lotan, PhD | Department of Physiotherapy, School of Health Sciences, Ariel University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centro AIRETT Ricerca e Innovazione (CARI) | Verona | 37122 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 10508514 | Background | Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct;23(2):185-8. doi: 10.1038/13810. | |
| 12745327 | Background | Fombonne E, Simmons H, Ford T, Meltzer H, Goodman R. Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health. Int Rev Psychiatry. 2003 Feb-May;15(1-2):158-65. doi: 10.1080/0954026021000046119. |
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The investigators plan to share the anonymized IPD related to participants' age, level of Rett syndrome severity, Scoliosis Progression, Adherence to the Program, Gross Motor Function Level, Behavioral Characteristics, and Caregivers' Burden. The information will be attached to scientific articles published after the study ends as supplementary materials.
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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.
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.
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP_ICF | Yes | Yes | Yes | Study Protocol, Statistical Analysis Plan, and Informed Consent Form | Jul 22, 2022 | Jul 22, 2022 | Prot_SAP_ICF_000.pdf |
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| ID | Term |
|---|---|
| D015518 | Rett Syndrome |
| D012600 | Scoliosis |
| ID | Term |
|---|---|
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
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The orthopedic surgeons who will evaluate the participants' Cobb's angle will be blinded concerning the group to which each participant was assigned.
|
| 30 minutes, before the beginning of the Group 1 intervention. |
| Gross Motor Function Level | The gross motor function level, including the ability to walk, will be measured for each participant during the rehabilitation assessments using the Rett Syndrome Motor Evaluation Scale. This scale includes 25 items that examine motor function divided into six sections: standing, sitting, postural transfers, walking, running, and climbing / descending stairs. Sixteen items are rated on a discrete scale, ranging from 0 (indicates no or very mild impairment) and 4 (severe impairment). Nine items related to walking skills are evaluated on a discrete scale with a score from 0 to 2 where 0 indicates that the activity could always be completed by the subject and 2 that is assigned if the item cannot be carried out. The items' scores are added together, thus giving a total RESMES score (range: 0 to 82). Moreover, a score for each section can be calculated. | 30 minutes, before the beginning of the Group 2 intervention. |
| Gross Motor Function Level | The gross motor function level, including the ability to walk, will be measured for each participant during the rehabilitation assessments using the Rett Syndrome Motor Evaluation Scale. This scale includes 25 items that examine motor function divided into six sections: standing, sitting, postural transfers, walking, running, and climbing / descending stairs. Sixteen items are rated on a discrete scale, ranging from 0 (indicates no or very mild impairment) and 4 (severe impairment). Nine items related to walking skills are evaluated on a discrete scale with a score from 0 to 2 where 0 indicates that the activity could always be completed by the subject and 2 that is assigned if the item cannot be carried out. The items' scores are added together, thus giving a total RESMES score (range: 0 to 82). Moreover, a score for each section can be calculated. | 30 minutes, at the end of the Group 2 intervention. |
| Behavioral Characteristics | The behavioral characteristics of the participants will be evaluated through the Rett Syndrome Behavior Questionnaire (RSBQ) administration. The RSBQ is a questionnaire created by comparing the behavioral aspects of people with Rett syndrome with those of individuals with severe intellectual disability. The questionnaire is filled in by parents who are asked to provide an evaluation of the behavioral characteristics shown by their child at the time of completion. The RSBQ includes elements describing behavioral characteristics and assessing physical capabilities, including hand function, sitting, and walking skills. Other items evaluated by the questionnaire include sleep disturbances, respiratory difficulties, mood disturbances, self-harm, social skills, and stereotyped hand movements. The RSBQ comprises 45 items scored on a three-point Likert scale (0 - Not true; 2 - Very or often true), providing a total score between 0 and 90 points. | 15 minutes, before the beginning of the Group 1 intervention. |
| Behavioral Characteristics | The behavioral characteristics of the participants will be evaluated through the Rett Syndrome Behavior Questionnaire (RSBQ) administration. The RSBQ is a questionnaire created by comparing the behavioral aspects of people with Rett syndrome with those of individuals with severe intellectual disability. The questionnaire is filled in by parents who are asked to provide an evaluation of the behavioral characteristics shown by their child at the time of completion. The RSBQ includes elements describing behavioral characteristics and assessing physical capabilities, including hand function, sitting, and walking skills. Other items evaluated by the questionnaire include sleep disturbances, respiratory difficulties, mood disturbances, self-harm, social skills, and stereotyped hand movements. The RSBQ comprises 45 items scored on a three-point Likert scale (0 - Not true; 2 - Very or often true), providing a total score between 0 and 90 points. | 15 minutes, before the beginning of the Group 2 intervention. |
| Behavioral Characteristics | The behavioral characteristics of the participants will be evaluated through the Rett Syndrome Behavior Questionnaire (RSBQ) administration. The RSBQ is a questionnaire created by comparing the behavioral aspects of people with Rett syndrome with those of individuals with severe intellectual disability. The questionnaire is filled in by parents who are asked to provide an evaluation of the behavioral characteristics shown by their child at the time of completion. The RSBQ includes elements describing behavioral characteristics and assessing physical capabilities, including hand function, sitting, and walking skills. Other items evaluated by the questionnaire include sleep disturbances, respiratory difficulties, mood disturbances, self-harm, social skills, and stereotyped hand movements. The RSBQ comprises 45 items scored on a three-point Likert scale (0 - Not true; 2 - Very or often true), providing a total score between 0 and 90 points. | 15 minutes, at the end of the Group 2 intervention. |
| Caregivers' Burden | The burden related to the implementation of the treatment will be assessed through the administration, at the of each intervention phase, of an ad hoc developed questionnaire to all parents, therapists, teachers, and other caregivers involved in the intervention. The items included in this questionnaire will address the burden derived from the treatment implementation, the parental satisfaction, and the intervention's perceived efficacy concerning functional skills and the trunk and spine posture. The questionnaire comprises 10 items scored on a five-point Likert scale (0 - Completely disagree; 4 - Completely agree), providing a total score between 0 and 50 points. | 15 minutes, at the end of the Group 1 intervention. |
| Caregivers' Burden | The burden related to the implementation of the treatment will be assessed through the administration, at the of each intervention phase, of an ad hoc developed questionnaire to all parents, therapists, teachers, and other caregivers involved in the intervention. The items included in this questionnaire will address the burden derived from the treatment implementation, the parental satisfaction, and the intervention's perceived efficacy concerning functional skills and the trunk and spine posture. The questionnaire comprises 10 items scored on a five-point Likert scale (0 - Completely disagree; 4 - Completely agree), providing a total score between 0 and 50 points. | 15 minutes, at the end of the Group 2 intervention. |
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| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D013121 | Spinal Curvatures |
| D013122 | Spinal Diseases |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |