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. 2025 Jan;34(1):247-260.
doi: 10.1007/s11136-024-03808-8. Epub 2024 Oct 22.

Health-related quality of life in 205 children with arthrogryposis multiplex congenita

Shahrzad Nematollahi  1   2 , Emmanouil Rampakakis  3 , Michael Amara  4 , Reggie C Hamdy  5   3 , Frank Rauch  5   3 , Lauren C Hyer  6 , Michelle A James  7 , Haluk Altiok  8 , Ellen Raney  9 , Jonathan Pellett  10 , Cary Mielke  11 , Sarah B Nossov  12 , Sena Tavukcu  5 , Philip F Giampietro  13   14 , Noémi Dahan-Oliel  4   5
Affiliations

Health-related quality of life in 205 children with arthrogryposis multiplex congenita

Shahrzad Nematollahi et al. Qual Life Res. 2025 Jan.

Abstract

Purpose: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of rare congenital conditions. Health-related quality of life (HRQL) may be reduced in AMC due to broadly heterogeneous physical impairments and participation limitations. This study described HRQL in children and youth with AMC, compared HRQL between child self- and parent-proxy reports, and identified factors associated with better/worse HRQL.

Methods: Data on 205 children with AMC (age 8-21 years) from a North American AMC registry across eight hospital sites was used. HRQL was assessed cross-sectionally using the Patient Reported Outcome Measurement Information System (PROMIS) and European Quality of Life-5 Dimensions-Youth-3 Levels (EQ-5D-Y-3 L) by self-report, parent proxy-report or both.

Results: Mean child-reported PROMIS T-scores were significantly lower than the normal mean for the Upper Extremity (mean = 33.0) and Mobility (mean = 37.2) but in the normal range for Pain Interference (mean = 46.6) and Peer Relationships (mean = 51.7). A lot of problems in EQ-5D-Y-3 L was reported by 37% in Feeling Worried/ Sad/ Unhappy, 46% in Having Pain/Discomfort, 50% in Doing Usual Activities, 56% in Mobility, and 57% in Looking After Myself. Compared to child-report, parents reported significantly worse PROMIS T-scores and higher problems in EQ-5D domains. Wheelchair use, being small for gestational age, prolonged hospitalization after birth, increased number of orthopedic surgeries, and caregiver's stress were associated with lower HRQL scores.

Conclusion: Findings indicate the importance of considering both the child's and parents' reports of HRQL, and to provide multimodal interventions that focus on the effect of childhood and parental characteristics to promote HRQL among children with AMC.

Keywords: Arthrogryposis multiplex congenita; Health-related quality of life; Patient reported outcome measures; Rare diseases; Registries.

Plain language summary

Our study describes health aspects of quality of life (HRQL) in a large sample of children with arthrogryposis multiplex congenita (AMC). Information on HRQL is crucial for clinicians treating AMC to improve treatment outcomes, and for individuals with AMC and their families to understand various aspects of life in AMC. Our results showed that most children with AMC have mild to moderate problems in mobility (e.g., getting around, walking), self-care (e.g., taking shower), and doing usual activities. We found that the parents tend to perceive worsened HRQL for the child with AMC. Our findings also showed that children who had low birthweight for gestational age, were hospitalized for prolonged periods as an infant, had multiple orthopedic surgeries, and use a wheelchair are more likely to have lower HRQL. Children who have a parent who expressed high caretaking stress tend to have lower mobility and physical functioning. Our findings will help develop more personalized care plans for children with AMC considering various individual and familial characteristics.

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Conflict of interest statement

Declarations. Competing interests: The authors have no competing interests to declare that are relevant to the content of this article. Ethics approval: Data was extracted from a multisite North American registry for children with AMC across eight hospital sites [26]. Administrative approval was obtained from the Department of Medical Research at Shriners’ Children in Canada (CAN1903) and from the Shriners’ Children partner sites in Chicago (Illinois), Greenville (South Carolina), Northern California, Portland (Oregon), Philadelphia (PA), Honolulu (Hawaii), and Shreveport (Louisiana). Approval for the lead site in Canada was obtained from the McGill University Faculty of Medicine Institutional Review Board (IRB) (A08-M30-19B), as well as approval from the US sites. Consent to participate: Written informed consent was obtained from all individual participants and the parents.

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