Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome

Investigation on the Effects of an Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome

Constipation consists of bowel symptoms characterized by difficulty or infrequency passage of stool, stiff stool, or a feeling of incomplete evacuation. However, its impact goes far beyond this definition. Constipation negatively impacts the quality of life (QoL) of children and adults suffering from this condition, affecting mental and physical-related QoL. Additionally, a negative impact of constipation on QoL was found in parents carrying children with constipation, affecting family functioning.

People with an intellectual disability present a constipation rate of over 33%. Rett syndrome (RTT) is a complex neurodevelopmental disorder affecting about 1/10,000 females and a few males worldwide. Chronic constipation is persistent in people with RTT, with a reported prevalence higher than 74%.

Specific recommendations for constipation management in RTT were developed, including behavioral, pharmacological, and surgical considerations. Recently, the literature has been enriched with papers describing the osteopathic treatment efficacy in reducing constipation. Emerging literature reported the efficacy of OMT in reducing constipation symptoms and improving QoL in typically developed people, as well as in children with disability. The present study aims to evaluate the efficacy of a specific OMT for managing chronic constipation in people with RTT and its impact on primary caregivers' quality of life.

Research questions:

• Can an OMT improve the constipation of people with RTT, increasing the frequency of bowel movements?
• Can the effects of an OMT aimed at reducing the constipation symptoms in people with RTT positively impact the participants' parents' constipation-related QoL?

Twelve individuals with RTT and their families will be recruited to participate in this single-blind parallel group-randomized study. Participants will be randomly divided into an experimental group (EG) and a control group (CG). After the preliminary evaluations, each participant will undergo eight OMT carried out weekly for eight weeks. The OMT will aim to facilitate bowel movements by increasing blood flow through the abdomen. At the end of the treatment, the participants will repeat the evaluation conducted before the OMT, and the collected data will be analyzed.

Study Overview

• Status: Not yet recruiting
• Conditions: Rett Syndrome
• Intervention / Treatment: Other: Osteopathic manipulative treatment

• Study Type: Interventional
• Enrollment (Anticipated): 12
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Meir Lotan, PhD; Phone Number: +972 545944157; Email: meirlo@ariel.ac.il
• Study Contact Backup: Name: Alberto Romano, MSc; Phone Number: +39 3290298593; Email: alberto.romano01@ateneopv.it

Study Locations

• Italy
  • Verona, Italy, 37122
    • Centro AIRETT Ricerca e Innovazione (CARI)
    • Contact: Michela Perina, MSc; Phone Number: +39 3317126109
    • Principal Investigator: Rosa Angela Fabio, PhD
    • Principal Investigator: Alberto Romano, MSc
    • Principal Investigator: Meir Lotan, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

Description

Inclusion Criteria:

• diagnosis of classic Rett syndrome with a mutation of the MECP2 gene;
• matching the ROME IV criteria for constipation;

Exclusion Criteria:

• the presence of specific severe heart and cardiovascular diseases;
• the presence of amenorrhea.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Experimental group; Each participant in the experimental group will receive eight weekly osteopathic manipulative treatments within eight weeks. Each treatment session will include several specific manipulations.	Other: Osteopathic manipulative treatment; Each participant in the experimental group will receive eight osteopathic manipulative treatments. Each treatment will include the following manipulations: Pompage Cv4;; Occipital-sternal technique;; Relaxining manipulation of the diaphragmatic domes;; Pelvic and abdominal diaphragm synchronization;; Dynamogenic technique;; Mesenteric traction;; Release of colic angles;; Manipulation and mobilization of the sacrum.
No Intervention: Control Group; Participants in the control group will not receive any treatment.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in number of evacuations	The number of participants' evacuations collected daily by participants' caregivers	Every day, for one week, immediately before the intervention phase.
Change in number of evacuations	The number of participants' evacuations collected daily by participants' caregivers	Every day, during the intervention phase (for 8 weeks).
Change in number of evacuations	The number of participants' evacuations collected daily by participants' caregivers	Every day, for one week, immediately after the end of the intervention phase.
Change in number of enemas and medications	The number of enemas and medication provided to the participants' to simplify or induce the evacuations collected by their caregivers.	Every day, for one week, immediately before the intervention phase.
Change in number of enemas and medications	The number of enemas and medication provided to the participants' to simplify or induce the evacuations collected by their caregivers.	Every day, during the intervention phase (for 8 weeks).
Change in number of enemas and medications	The number of enemas and medication provided to the participants' to simplify or induce the evacuations collected by their caregivers.	Every day, for one week, immediately after the end of the intervention phase.
Change in the Modified Constipation Assessment Scale (m-CAS)	The m-CAS is an eight-item scale that measures whether constipation is present and its intensity. A higher score represents more severe constipation. Cronbach α coefficient showed good internal consistency over time (α>0.70). The Pearson product-moment correlation coefficient was used to evaluate test-retest reliability and showed evident acceptance (r=0.93; P<0.001).	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).
Change in theConstipation Scoring System (CSS)	The CSS assesses the severity of constipation with a maximum score of 30 (0 = no constipation, 30 = severe constipation. The scale was initially validated with a 100-subject sample and could correctly detect the absence or presence of constipation in 96% of the subjects, thus representing a sensitive and valid tool.	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).
Change in theConstipation-Related Quality Of Life (CRQOL)	The CRQOL assesses quality-of-life domains affected by constipation. It includes four domains: social impairment, distress, eating habits, and bathroom attitudes. In our study, the primary caregiver filled this scale reporting his feelings concerning the participant's constipation management. The internal consistency of each of the four domains was higher than 0.70 using Cronbach's alpha. Excellent test-retest reliability was demonstrated (α>0.85).	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).
Change in the Short Form Health Survey-12 (SF-12)	The SF-12 is a multidimensional measure of health-related quality of life widely used in clinical trials. The SF-12 was administered to participants' primary caregivers. The Italian version of the SF-12 was validated on a large sample of Italian people showing strong psychometric proprieties.	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in the tissue tension	The pelvic tissue tension was evaluated as an index of hydration and deep fascial tension. For the assessment, the iliac cavity skin was pinched between the index and thumb fingers, and a score between 0 (normal tissue elasticity) and 4 (adherent, rigid skin, tissue detachment not possible) was assigned based on the tissue elasticity.	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).
Change in the abdomen palpability	It represents an index of abdominal stiffness and refers to the intestinal skein resistance to manual mobilization in the supine position. The right and left colic cords, ileocecal valve, and sigma were mobilized. Based on the perceived tissue consistency and resistance, scores between 0 (soft and treatable abdominal tissue) and 3 (rigid abdomen, tense and painful even in the medium-deep palpation) points were assigned.	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).
Change in the abdominal bloating	It assesses the presence and extent of intestinal gas. It is helpful to have an approximate idea of the intestinal loops' opening (or closing) level. It was assessed by observing the prominence of the four abdominal quadrants in correspondence with the navel, anterior iliac thorns, and costal ramps. And a score between 0 (flat, compressible abdomen) and 4 (globose abdomen, total compressibility not possible) was assigned.	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).
Change in the sacral pad swelling	Its presence can indicate inadequate liquids' reabsorption in the small pelvis by the iliac branches. It is evaluated in the supine position by manual pressure examination of the sacral base. Based on the sacral area swelling, a score between 0 (normally distended sacral area) and 3 (large swelling with lumbar-sacral area tissue inhibition).	15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0).

Collaborators and Investigators

• Sponsor: Ariel University
• Collaborators: Associazione Italiana Rett (AIRETT)
• Investigators: Principal Investigator: Rosa Angela Fabio, PhD, Department of Clinical and Experimental Medicine, University of Messina

Publications and helpful links

General Publications

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Study record dates

Study Major Dates

• Study Start (Anticipated): January 16, 2023
• Primary Completion (Anticipated): March 27, 2023
• Study Completion (Anticipated): March 27, 2023

Study Registration Dates

• First Submitted: December 30, 2022
• First Submitted That Met QC Criteria: January 6, 2023
• First Posted (Actual): January 18, 2023

Study Record Updates

• Last Update Posted (Actual): January 18, 2023
• Last Update Submitted That Met QC Criteria: January 6, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Signs and Symptoms, Digestive; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Syndrome; Constipation; Rett Syndrome
• Other Study ID Numbers: AU-HEA-ML-20220915

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: The investigators plan to share the anonymized IPD related to participants' age, and levels of Rett syndrome severity, motor functioning, and daily physical activity. The information will be published as a part of the scientific articles produced after the study ends.
• IPD Sharing 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.
• IPD Sharing 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.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No