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Health-related quality of life in 205 children with arthrogryposis multiplex congenita
Shahrzad Nematollahi1,2, Emmanouil Rampakakis3, Michael Amara4
1School of Physical and Occupational Therapy, McGill University, Montreal, Québec, Canada. shahrzad.nematollahi@mail.mcgill.ca.
Insights
Children with arthrogryposis multiplex congenita (AMC) experience reduced health-related quality of life (HRQL), particularly in upper extremity function and mobility. Parental reports often indicate worse HRQL than child self-reports, highlighting the need for comprehensive support strategies.
Area of Science:
- Pediatric Orthopedics
- Rehabilitation Medicine
- Quality of Life Research
Background:
- Arthrogryposis multiplex congenita (AMC) is a rare condition characterized by congenital joint contractures.
- Physical impairments and participation limitations in AMC can significantly impact health-related quality of life (HRQL).
- Understanding HRQL in children and youth with AMC is crucial for developing effective interventions.
Purpose of the Study:
- To describe HRQL in children and youth diagnosed with AMC.
- To compare HRQL as reported by children versus their parents.
- To identify factors associated with variations in HRQL among individuals with AMC.
Main Methods:
- Cross-sectional study utilizing data from 205 children with AMC (ages 8-21) across eight North American sites.
- Health-related quality of life (HRQL) assessed using Patient Reported Outcome Measurement Information System (PROMIS) and EQ-5D-Youth-3 Levels (EQ-5D-Y-3L).
- Data collected via child self-report, parent proxy-report, or both.
Main Results:
- Children with AMC reported lower HRQL scores in Upper Extremity and Mobility domains compared to normative data.
- Significant challenges were reported in mobility, self-care, daily activities, and emotional well-being.
- Parental reports indicated worse HRQL outcomes than child self-reports; wheelchair use, prematurity, and caregiver stress correlated with lower HRQL.
Conclusions:
- HRQL in AMC is complex and requires consideration of both child and parent perspectives.
- Multimodal interventions should address factors influencing childhood and parental characteristics to enhance HRQL.
- Addressing physical, emotional, and social aspects is vital for improving the lives of children with AMC.
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.
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