Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders

Abstract

Background: Arthrogryposis multiplex congenita is a term used to describe congenital contractures in at least two body parts with an overall prevalence of 1 in 3000 live births. It is often caused by lack of fetal movement in utero and presents as contractures of varying severity, which may affect the upper and lower extremities, the spine and jaw. Currently, no practice recommendations exist to inform best clinical practice for arthrogryposis multiplex congenita.

Purpose: To identify the needs surrounding rehabilitation as experienced by youth with arthrogryposis multiplex congenita, caregivers, and clinicians and to propose solutions to develop family- and client-centred rehabilitation recommendations.

Materials and methods: A modified experience-based co-design methodology was used where qualitative interviews were conducted with key stakeholders.

Results: Twenty-seven participants completed the interviews and demographic information was collected where early-active rehabilitation began at birth in most cases and became less frequent through adolescence. Three overarching themes were determined for each stakeholder group.

Conclusions: All participants reported that early-active rehabilitation is beneficial as it helps determine future treatments. Transition times and participation need to be at the center of interventions to ensure that the needs of youth with arthrogryposis multiplex congenita are being met. The development a condition-specific outcome-measure and rehabilitation practice recommendations will assist clinicians in addressing the needs of youth with arthrogryposis multiplex congenita.

Implications for rehabilitation

• Arthrogryposis multiplex congenita presents in at least two different areas of the body as multiple congenital contractures of varying severity which may affect the upper and lower extremities, spine and jaw.

• Youth with arthrogryposis multiplex congenita identified participation as an essential component of their life, however caregivers and clinicians did not emphasize this need.

• Gathering information from different stakeholders is important to ensure varying needs are addressed.

• Rehabilitation was reported to be beneficial from early childhood to late adolescence by youth, caregivers, and clinicians.

• Frequency of rehabilitation diminished over time, emphasizing the need for continued follow-up into adolescence.

Keywords:

• arthrogryposis multiplex congenita
• qualitative methods
• rehabilitation
• pediatric
• client-centred research

Acknowledgements

We wish to thank the youth, caregivers, occupational and physical therapists for participating. We acknowledge Julie Létourneau and Marie-Josée Morissette for assistance in ethics submission and recruitment. We thank Sarah Cachecho, Carla Evangéliste and Guylaine Bédard from the Shriners Hospitals for Children in Montreal, Canada and Julie Fortin from the Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires.

Disclosure statement

No potential conflict of interest was reported by the authors.

Data availability

The data that support the findings of this study are available on request from the corresponding author, CE. The data are not publicly available due to privacy restriction (i.e their containing information that could compromise the privacy of research participants).

Additional information

Funding

This work was supported by the Edith Strauss Research Project fund. CG holds a career-grant funding from Fonds de recherche en santé du Québec (no 31011).