REHABILITATION GUIDELINE DEVELOPMENT FOR CHILDREN WITH RARE DISEASES: AN INTERNATIONAL PATIENT-ORIENTED APPROACH

N. Dahan-Oliel¹, S. Cachecho², A. Fafara³, F. Lacombe⁴, A. Samargian⁵, A. Bussières¹

¹McGill University, Faculty of Medicine and Health Sciences, Montreal, Canada, ²Shriners Hospital for Children, Rehabilitation, Montreal, Canada, ³Jagiellonian University, Institute of Physiotherapy, Krakow, Poland, ⁴Centre de Réadaptation Lucie-Bruneau, Montreal, Canada, ⁵AMCSupport Inc, Spartanburg, United States

Background: Early rehabilitation is crucial to promote autonomy and participation in children with rare diseases such as arthrogryposis multiplex congenita (AMC), yet empirical evidence to inform best practice is scarce and clinical expertise hard to develop due to the rarity of AMC. Preliminary research involving stakeholders in AMC (youth, parents, and clinicians) identified priorities in pediatric rehabilitation.

Purpose: The objective of this project is to develop rehabilitation guidelines on the assessment and treatment of children with AMC in the areas of muscle and joint function, pain, mobility and self-care, participation and psychosocial wellbeing.

Methods: An integrated knowledge translation approach with the engagement of individuals with lived experience and clinicians was used. Current rehabilitation practices in AMC were identified using a clinician survey. Then, using the Grading of Recommendations, Assessment, Development and Evaluations framework (GRADE) approach, a panel of interdisciplinary expert clinicians, patient and family representatives, and researchers developed the guidelines based on the findings from the literature and survey results. Consensus on the guidelines was sought using a modifed Delphi process with a wider panel of international AMC experts. Facilitators and barriers toward implementing guidelines into practice were identified among rehabilitation clinicians and managers to inform the implementation of guidelines.

Results: Sixty-five participants from nine countries completed the clinician survey, >80% participants reported using non-standardized evaluations while <50% used patient-reported or standardized measures. Stretching of upper and lower limbs was reported by >80%, strengthening was reported by >70% mainly among children >3 years old with less severe contractures. Other interventions used included orthotics (>70%), positioning (>80%), activity-based training (>80%), assistive devices for self-care (>50%), mobility (>80%), and energy conservation (>70%). Three working groups were held with physiotherapists, occupational therapists, social workers, orthopedic surgeons, physiatrists, and individuals with lived experience from seven countries to develop the guidelines. Sixteen guidelines were developed and subsequently shared with a larger group of experts for agreement on a slider scale from 0 (strongly disagree) to 100 (strongly agree). Two rounds of Delphi were conducted (n= 41, n=38) and the content and wording of the guideline statements were reviewed with the feedback provided. To identify barriers and facilitators to guideline implementation in practice, physiotherapists (n=7), occupational therapists (n=6), social worker (n=1), physical rehabilitation technician (n=1) and rehabilitation managers (n=4) participated in qualitative interviews using the Theoretical Domains Framework. The presence of upper management support, a knowledge broker and education on guideline usage were identified as facilitators to guideline uptake. Factors likely to hinder the uptake of guidelines included lack of clinical resources and time and outdated evidence.

Conclusions: Rehabilitation guidelines in the areas of muscle and joint function, pain, mobility, self-care, participation and psychosocial wellbeing were developed with individuals with AMC and family members, clinicians and researchers. The next step is to develop a knowledge translation intervention to implement these guidelines in practice.

Implications: This multi-phase project will provide healthcare users and providers with research-based, expert guidelines for the rehabilitation of children with rare musculoskeletal diseases, specifically AMC, and will contribute to family-centered practice.

Keywords:
Rehabilitation
Guideline development
Patient-oriented research

Topics:
Disability & rehabilitation
Research methodology, knowledge translation & implementation science
Musculoskeletal

Did this work require ethics approval? Yes

Institution: McGill University

Committee: Faculty of Medicine and Health Sciences

Ethics number: A07-E51-20B