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

被引:0
|
作者
Hermansen, My Vuong [1 ]
Wekre, Lena Lande [2 ]
Lidal, Ingeborg B. [2 ]
机构
[1] Oslo Univ Hosp, Ullevaal Hosp, Dept Neurol, N-0450 Oslo, Norway
[2] Sunnaas Rehabil Hosp, TRS Natl Resource Ctr Rare Disorders, N-1453 Oslo, Norway
关键词
Amyoplasia; arthrogryposis multiplex congenita; distal arthrogryposis; scoping review; DIAGNOSTIC-APPROACH; CLASSIFICATION; ETIOLOGY; CONTRACTURES; GENETICS;
D O I
10.1002/ajmg.a.63201
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:1693 / 1703
页数:11
相关论文
共 28 条
  • [1] Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review
    Taqi, Doaa
    Nematollahi, Shahrzad
    Lemin, Sarah
    Rauch, Frank
    Hamdy, Reggie
    Dahan-Oliel, Noemi
    BONE, 2024, 179
  • [2] A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita
    Hansen-Jaumard, Delphine
    Elfassy, Caroline
    Montpetit, Kathleen
    Ghalimah, Bayan
    Hamdy, Reggie
    Dahan-Oliel, Noemi
    JOURNAL OF PEDIATRIC REHABILITATION MEDICINE, 2020, 13 (03) : 263 - 271
  • [3] Participation among Children with Arthrogryposis Multiplex Congenita: A Scoping Review
    Elfassy, Caroline
    Cachecho, Sarah
    Snider, Laurie
    Dahan-Oliel, Noemi
    PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS, 2020, 40 (06) : 610 - 637
  • [4] Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review
    Cirillo, Alexa
    Collins, Jessica
    Sawatzky, Bonita
    Hamdy, Reggie
    Dahan-Oliel, Noemi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (03) : 436 - 453
  • [5] Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review
    Arduc, Arda
    De Vries, Johanna I. P.
    Tan-Sindhunata, Maria B.
    Stoelinga, Femke
    Jansen, Remco
    Linskens, Ingeborg H.
    ORPHANET JOURNAL OF RARE DISEASES, 2025, 20 (01)
  • [6] Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review
    Gagnon, Marianne
    Caporuscio, Kevin
    Veilleux, Louis-Nicolas
    Hamdy, Reggie
    Dahan-Oliel, Noemi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (03) : 410 - 426
  • [7] Rehabilitation in Patients Diagnosed with Arthrogryposis Multiplex Congenita: A Systematic Review
    Garcia Aguilar, Catalina E.
    Garcia-Munoz, Cristina
    Carmona-Barrientos, Ines
    Vinolo-Gil, Maria Jesus
    Martin-Vega, Francisco Javier
    Gonzalez-Medina, Gloria
    CHILDREN-BASEL, 2023, 10 (05):
  • [8] Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry
    Dahan-Oliel, Noemi
    van Bosse, Harold J. P.
    Bedard, Tanya
    Darsaklis, Vasiliki B.
    Hall, Judith G.
    Hamdy, Reggie C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (03) : 427 - 435
  • [9] Arthrogryposis multiplex congenita and limitation of mouth opening: Presentation of a case and review of the literature
    Benard, M.
    Sesque, A.
    Barthelemy, I.
    Depeyre, A.
    JOURNAL OF STOMATOLOGY ORAL AND MAXILLOFACIAL SURGERY, 2021, 122 (01) : 101 - 106
  • [10] Infantile systemic hyalinosis diagnosed as arthrogryposis multiplex congenita - A case report and literature review
    Gupta, Kritika
    Khan, Hania Q.
    Amin, Syed S.
    Chandra, Mithilesh
    JOURNAL OF DERMATOLOGY & DERMATOLOGIC SURGERY-JDDS, 2023, 27 (02): : 78 - 81