Rett Syndrome
Conditions
Brief summary
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.
Interventions
OTHEROsteopathic 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.
Sponsors
Associazione Italiana Rett (AIRETT)
Ariel University
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
SINGLE (Outcomes Assessor)
Masking description
The assessors will not know which group the participants were assigned (experimental or control group) at any study stage.
Intervention model description
Single-blind parallel group-randomized design.
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in the Short Form Health Survey-12 (SF-12) | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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. |
| Change in number of enemas and medications | Every day, for one week, immediately before the intervention phase. | The number of enemas and medication provided to the participants' to simplify or induce the evacuations collected by their caregivers. |
| Change in the Modified Constipation Assessment Scale (m-CAS) | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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). |
| Change in theConstipation Scoring System (CSS) | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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. |
| Change in theConstipation-Related Quality Of Life (CRQOL) | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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). |
| Change in number of evacuations | Every day, for one week, immediately before the intervention phase. | The number of participants' evacuations collected daily by participants' caregivers |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in the abdomen palpability | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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. |
| Change in the abdominal bloating | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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. |
| Change in the sacral pad swelling | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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). |
| Change in the tissue tension | 15 minutes. Before the treatment initiation (T0) and after the treatment end (T1 - after 8 weeks from T0). | 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. |
Countries
Italy
Outcome results
None listed