Collaborating to advance interdisciplinary care for individuals with arthrogryposis

Dahan‐Oliel, Noémi; Hall, Judith G.

doi:10.1002/ajmg.c.31741

Cited by 4 publications

(4 citation statements)

References 15 publications

(15 reference statements)

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“…Potential participants will be recruited from hospitals and rehabilitation centers in North America. Participants around the world were identified through the literature review, from contacts established by the research team through previous research collaborations and from speakers at AMC annual conferences [ 30 ]. With this approach, the research team was able to identify over 300 potential participants (PTs, OTs, SWs and physiotherapy technologists) across all continents.…”

Section: Methodsmentioning

confidence: 99%

Expert guidance for the rehabilitation of children with arthrogryposis: protocol using an integrated knowledge translation approach

et al. 2022

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Background Arthrogryposis multiplex congenita (AMC) is a group of rare congenital disorders characterized by multiple joint contractures present at birth. Contractures can affect different body areas and impact activities of daily living, mobility and participation. Although early rehabilitation is crucial to promote autonomy and participation in children with AMC, 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 with AMC, parents, and clinicians) identified priorities in pediatric rehabilitation. Scoping reviews on these priorities showed a lack of high quality evidence related to rehabilitation in AMC. The objective of this project is to provide rehabilitation expert guidance 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 will be used throughout the project. Current rehabilitation practices in AMC will be identified using a clinician survey. Using the Grading of Recommendations, Assessment, Development and Evaluations framework (GRADE) approach, a panel of interdisciplinary expert clinicians, patient and family representatives, and researchers will develop expert guidance on the assessment and treatment for pediatric AMC rehabilitation based on findings from the scoping reviews and survey results. Consensus on the guidance statements will be sought using a modified Delphi process with a wider panel of international AMC experts, and statements appraised using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool. Theoretical facilitators and barriers toward implementing clinical guidance into practice will be identified among rehabilitation clinicians and managers to inform the design of dissemination and implementation strategies. Discussion This multi-phase project will provide healthcare users and providers with research-based, expert guidance for the rehabilitation of children with AMC and will contribute to family-centered practice.

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Section: Methodsmentioning

confidence: 99%

Expert guidance for the rehabilitation of children with arthrogryposis: protocol using an integrated knowledge translation approach

et al. 2022

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“…27,43 Efforts of international registries involving patient advocacy groups can largely contribute to this advancement. 44,45…”

Section: What Are Options For Prenatal Genetic Testing and Diagnosis?mentioning

confidence: 99%

“…This requires to increase our knowledge of molecular pathways in early human development and specific phenotype‐genotype correlations during fetal life 27,43 . Efforts of international registries involving patient advocacy groups can largely contribute to this advancement 44,45 …”

Section: What Are Options For Prenatal Genetic Testing and Diagnosis?mentioning

confidence: 99%

“…When MCC are diagnosed referral of the mother to a tertiary care center is recommended. Interdisciplinary management for individualized care depending on the etiology (or suspected underlying condition) will improve the child's outcome 44–46 . Pediatric orthopedics and neurologists play a pivotal and continuing role in treatment and follow‐up from birth to adulthood to improve function and therefore activity and participation of the affected individual.…”

Section: What Are Options For Treatment After Birth?mentioning

confidence: 99%

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Fetal arthrogryposis—what do we tell the prospective parents?

et al. 2023

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Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo-and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case. Key pointsWhat's already known about this topic? � Arthrogryposis, also termed multiple congenital contractures, and fetal akinesia are often missed prenatally, but can be detected by ultrasound early when looked for.� The etiology is extremely heterogeneous. There are a number of challenges for achieving a definite diagnosis during pregnancy and appropriately counsel parents for prognosis and management. What does this review add?� This review serves as an update for prenatal providers who are charged with detecting, diagnosing and counseling on congenital contractures and/or fetal akinesia prenatally. � This article is not a substitute for interdisciplinary expert opinion, consultation and counseling in the individual patient or family. | INTRODUCTIONCongenital contractures in the newborn are not rare, ranging from 1/ 100 to 1/200 for some type of single contracture such as clubfoot and hip dislocation or multiple congenital contractures. The presence of multiple congenital contractures is generally termed arthrogryposis. Arthrogryposis, also called arthrogryposis multiplex congenita (AMC), or now referred to as multiple congenital contractures (MCC), is a descriptive term for conditions of a highly heterogeneous etiology, which may lead to or be associated with MCC as a clinical sign. 1,2 MCC, however, may have specific patterns of limb involvement and/or additional clinical signs pointing to the underlying etiology or even a specific diagnosis. The prognosis may substantially differ depending on the etiology. For pregnancy and family counseling the 798

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Prenatal Cases: Clubfeet and Decreased Fetal Movement

Hall

2024

Genomics in the Clinic

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Collaborating to advance interdisciplinary care for individuals with arthrogryposis

Cited by 4 publications

References 15 publications

Expert guidance for the rehabilitation of children with arthrogryposis: protocol using an integrated knowledge translation approach

Expert guidance for the rehabilitation of children with arthrogryposis: protocol using an integrated knowledge translation approach

Fetal arthrogryposis—what do we tell the prospective parents?

Prenatal Cases: Clubfeet and Decreased Fetal Movement

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