Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations
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Published on: February 25, 2022
Pauline Le Tanno1, Xenia Latypova2, John Rendu2
1Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut of Advanced Biosciences, 38000 Grenoble, France.
Insights
Diagnosing arthrogryposis multiplex congenita (AMC) is challenging due to over 400 causes. This study recommends a two-step diagnostic approach, prioritizing non-invasive methods and advanced genetic testing for better etiological identification in children with AMC.
Area of Science:
- Medical Genetics
- Pediatric Orthopedics
- Clinical Diagnostics
Background:
- Arthrogryposis multiplex congenita (AMC) presents as congenital contractures across multiple body areas, posing diagnostic challenges due to over 400 potential underlying conditions.
- Establishing a definitive etiological diagnosis is crucial for appropriate management but remains complex in clinical practice.
- This study aims to develop evidence-based diagnostic recommendations for AMC using a national cohort and literature review.
Approach:
- A retrospective, single-center observational study was conducted involving 125 pediatric patients evaluated at an AMC clinic from 2007 to 2019.
- Data on diagnostic procedures were collected, and a comprehensive literature review assessed the relevance of various paraclinical investigations.
- The study focused on developing a structured, two-phase diagnostic strategy.
Key Points:
- Amyoplasia was diagnosed in 43% of patients, distal arthrogryposis in 27%, and other forms in 30%.
- A definitive etiological diagnosis was achieved in 66% of the included cases.
- The recommended diagnostic process involves initial non-invasive investigations for classification, followed by targeted investigations for specific patient subsets.
Conclusions:
- The etiological diagnosis and management of AMC are complex but can be improved with systematic approaches.
- Next-generation sequencing, coupled with detailed phenotyping, shows promise for enhancing diagnostic yield.
- Minimizing invasive investigations is advised due to their limited diagnostic utility in AMC.
Introduction:
Arthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the aetiological diagnosis challenging. The objective of this work was to set up evidence-based recommendations for the diagnosis of AMC by taking advantage of both data from our nation-wide cohort of children with AMC and from the literature.
Material And Methods:
We conducted a retrospective single-centre observational study. Patients had been evaluated at least once at a paediatric age in the AMC clinic of Grenoble University Hospital between 2007 and 2019. After gathering data about their diagnostic procedure, a literature review was performed for each paraclinical investigation to discuss their relevance.
Results:
One hundred and twenty-five patients were included, 43% had Amyoplasia, 27% had distal arthrogryposis and 30% had other forms. A definitive aetiological diagnosis was available for 66% of cases. We recommend a two-time diagnostic process: first, non-invasive investigations that aim at classifying patients into one of the three groups, and second, selected investigations targeting a subset of patients.
Conclusion:
The aetiological management for patients with AMC remains arduous. This process will be facilitated by the increasing use of next-generation sequencing combined with detailed phenotyping. Invasive investigations should be avoided because of their limited yield.
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