'Uptime' Participation Intervention in Girls and Women With Rett Syndrome

Feasibility and Effectiveness of an Individualized 12-week 'Uptime' Participation Intervention (U-PART) in Girls and Women With Rett Syndrome

The aim of the study is to evaluate the feasibility and health-related effects of an individualized 12wk 'uptime' participation intervention in girls and women with Rett syndrome. Girls and women above 5 years of age with Rett syndrome and a confirmed MECP2 mutation will be included. Each individual program focuses on participation in enjoyable activities to promote 'uptime' in home, school/day center and community settings. Primary outcomes are sedentary time and daily steps. Secondary outcomes are gross motor skills, walking capacity, quality of life and participation-level goals. Outcomes are evaluated on four occasions: at baseline and after a 6-week interval, immediately following the 12-week intervention program and 12 weeks after the intervention program.

Study Overview

• Status: Completed
• Conditions: Rett Syndrome
• Intervention / Treatment: Other: 'Uptime' participation

• Study Type: Interventional
• Enrollment (Actual): 14
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Denmark
  • København Ø
    • Copenhagen, København Ø, Denmark, 2100
      • Center for Rett syndrome, Department of Paediatrics and Adolescents Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

Description

Inclusion Criteria:

• Girls and women above 5 years of age with Rett syndrome and a confirmed MECP2 mutation
• Hoffer ambulation scale levels I-IV

Exclusion Criteria:

• Girls and women who have undergone orthopedic surgery in the lower extremities within the last 6 months
• Girls and women who have undergone spinal fusion within the last 12 months

Study Plan

How is the study designed?

Design Details

• Primary Purpose: OTHER
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

EXPERIMENTAL: UPART intervention group; A 1-group pretest-posttest design was conducted. Outcomes were evaluated on four occasions; twice during baseline separated by six weeks and immediately following a 12-week 'uptime' participation intervention and after a further 12 weeks (follow-up).

Other: 'Uptime' participation; The intervention are designed for each individual and are consistent with the model for participation-based interventions. The interventions are goal-oriented (meaningful and family/client-selected goals), family/client-centered (promoted self-determination and decision making), collaborative (partnership between caregivers), strength-based (built on participant and caregiver strengths) and ecological (natural environment and real-life experiences). Design of the intervention comprised three steps: 1) Preparation period (6 weeks); 2) Intervention period (12 weeks); 3) Follow-up period (12 weeks)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
ActivPAL	Change in sedentary time	Assessed four times; twice at baseline; once after the 12 week intervention and once after a further 12 week follow-up
Stepwatch Activity Monitor	Change in daily step count	Assessed four times; twice at baseline; once after the 12 week intervention and once after a further 12 week follow-up

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rett Syndrome Gross Motor Scale	Change in gross motor skills	Assessed four times; twice at baseline; once after the 12 week intervention and once after a further 12 week follow-up
2 minute walk test	Change in walking capacity	Assessed four times; twice at baseline; once after the 12 week intervention and once after a further 12 week follow-up
Quality of Life Inventory - Disability, questionnaire	Change in quality of life. The Quality of Life Inventory-Disability was used to assess quality of life. This 32 item-questionnaire was developed for children 5-18 years of age with ID. Responses are used to calculate an overall score and six subscale scores (social interaction, positive emotions, physical health, negative emotions, leisure/outdoors and independence), each scored on a 0-100 scale with higher scores representing better quality of life.	Assessed four times; twice at baseline; once after the 12 week intervention and once after a further 12 week follow-up
Goal attainment scaling	Change in participation level goals. Goal attainment scaling is a validated method for evaluating achievement of individual goals. Individual goals were assessed on a five-point rating scale ranging from -2 to +2. Baseline was set at -2, the expected level after the intervention at zero and the most favorable outcome at +2. The goals were graded in relation to frequency or duration of an activity.	Assessed twice; at baseline and after the 12 week intervention

Collaborators and Investigators

• Sponsor: Rigshospitalet, Denmark

Study record dates

Study Major Dates

• Study Start (ACTUAL): February 7, 2017
• Primary Completion (ACTUAL): December 15, 2017
• Study Completion (ACTUAL): December 15, 2017

Study Registration Dates

• First Submitted: February 8, 2019
• First Submitted That Met QC Criteria: February 19, 2019
• First Posted (ACTUAL): February 20, 2019

Study Record Updates

• Last Update Posted (ACTUAL): February 21, 2019
• Last Update Submitted That Met QC Criteria: February 20, 2019
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Syndrome; Rett Syndrome
• Other Study ID Numbers: Center for RTT- 2017

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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