Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry

Dahan‐Oliel, Noémi; Bosse, Harold J. P. van; Darsaklis, Vasiliki; Rauch, Frank; Bedard, Tanya; Bardai, Ghalib; James, Michelle A.; Raney, Ellen M.; Freese, Krister; Hyer, Lauren C; Altiok, Alex; Pellett, Jonathan; Giampietro, Philip F.; Hall, Judith G.; Hamdy, Reggie C.

doi:10.1136/bmjopen-2021-060591

Cited by 4 publications

(2 citation statements)

References 31 publications

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“…Our results for arthrogryposis multiplex congenita were based on 169 children. An American database studying the outcome of children with this diagnosis includes data on 40 children with the aim of extending the database to 400 children [18]. Treatment is early and intensive physiotherapy combined with surgery.…”

Section: Discussionmentioning

confidence: 99%

Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies—A Population-Based Data Linkage Study

Garne

Tan

Damkjær

et al. 2023

IJERPH

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Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995–2014 with 18 rare structural congenital anomalies from nine EUROCAT registries in five countries. In the first year of life, the median length of stay (LOS) ranged from 3.5 days (anotia) to 53.8 days (atresia of bile ducts). Generally, children with gastrointestinal anomalies, bladder anomalies and Prune-Belly had the longest LOS. At ages 1–4, the median LOS per year was ≤3 days for most anomalies. The proportion of children having surgery before age 5 years ranged from 40% to 100%. The median number of surgical procedures for those under 5 years was two or more for 14 of the 18 anomalies and the highest for children with Prune-Belly at 7.4 (95% CI 2.5–12.3). The median age at first surgery for children with atresia of bile ducts was 8.4 weeks (95% CI 7.6–9.2) which is older than international recommendations. Results from the subset of registries with data up to 10 years of age showed that the need for hospitalisations and surgery continued. The burden of disease in early childhood is high for children with rare structural congenital anomalies.

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Section: Discussionmentioning

confidence: 99%

Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies—A Population-Based Data Linkage Study

Garne

Tan

Damkjær

et al. 2023

IJERPH

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“…More knowledge about how different types of AMC implicates in the daily life is needed. The development and implementation of a multicenter registry is critical to gather these data (Dahan‐Oliel et al, 2022). A pediatric registry was introduced in 2018 in North America, but there is currently no registry for adults.…”

Section: Discussionmentioning

confidence: 99%

The range of publications on arthrogryposis multiplex congenita from 1995 to 2022—A scoping review

Hermansen

Wekre

Lidal

2023

American J of Med Genetics Pt A

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Arthrogryposis multiplex congenita (AMC) is defined as “a group of congenital conditions characterized by joint contractures in two or more body areas.” Given its heterogeneity, the definition of AMC has changed multiple times. This scoping review provides an overview of how AMC is defined in scientific publications, on existing knowledge and trends regarding the concept of AMC. Our review illuminates possible knowledge gaps and provides directions for future research. A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta‐Analyses extension for Scoping Reviews guidelines. Quantitative studies on AMC from 1995 to date were included. We summarized information about definitions/descriptions of AMC, study objectives, study designs, methods, funding, and involvement of patient organizations. A total of 2729 references were screened, and 141 articles fulfilled our inclusion criteria. Our scoping revealed that the majority of publications were cross‐sectional or retrospective studies of children and young people, commonly about orthopedic management. Explicit or good definitions of AMC were provided in 86% of the cases. Recent publications on AMC mostly used consensus‐based definitions. The research gaps were primarily related to adults, aging, etiology, and new medical treatment, in addition to implications on daily life.

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The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano,

Matentzoglu,

Coleman

et al. 2023

Nucleic Acids Research

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The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

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Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry

Cited by 4 publications

References 31 publications

Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies—A Population-Based Data Linkage Study

Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies—A Population-Based Data Linkage Study

The range of publications on arthrogryposis multiplex congenita from 1995 to 2022—A scoping review

The Human Phenotype Ontology in 2024: phenotypes around the world

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