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Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions

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Abstract

Purpose

Measuring health-related quality of life (HRQoL) of children with suspected genetic conditions is important for understanding the effect of interventions such as genomic sequencing (GS). The Pediatric Quality of Life Inventory (PedsQL) is a widely used generic measure of HRQoL in pediatric patients, but its psychometric properties have not yet been evaluated in children undergoing diagnostic GS.

Methods

In this cross-sectional study, we surveyed caregivers at the time of their child’s enrollment into GS research studies as part of the Clinical Sequencing Evidence Generating Research (CSER) consortium. To evaluate structural validity of the PedsQL 4.0 Generic Core Scales and PedsQL Infant Scales parent proxy-report versions, we performed a confirmatory factor analysis of the hypothesized factor structure. To evaluate convergent validity, we examined correlations between caregivers’ reports of their child’s health, assessed using the EQ VAS, and PedsQL scores by child age. We conducted linear regression analyses to examine whether age moderated the association between caregiver-reported child health and PedsQL scores. We assessed reliability using Cronbach’s alpha.

Results

We analyzed data for 766 patients across all PedsQL age group versions (1–12 months through 13–18 years). Model fit failed to meet criteria for good fit, even after modification. Neither age group (categorical) nor age (continuous) significantly moderated associations between PedsQL scores and caregiver-reported child health. Cronbach’s alphas indicated satisfactory internal consistency for most PedsQL scales.

Conclusion

The PedsQL Generic Core Scales and Infant Scales may be appropriate to measure HRQoL in pediatric patients with suspected genetic conditions across a wide age range. While we found evidence of acceptable internal consistency and preliminary convergent validity in this sample, there were some potential problems with structural validity and reliability that require further attention.

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Funding

The Clinical Sequencing Evidence-Generating Research (CSER) consortium is funded by the National Human Genome Research Institute (NHGRI) with co-funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the National Cancer Institute (NCI), supported by U01HG006487 (UNC), U01HG007292 (KPNW), U01HG009610 (Mt Sinai), U01HG006485 (Baylor), U01HG009599 (UCSF), U01HG007301 (HudsonAlpha), and U24HG007307 (Coordinating Center). HSS is supported by an NHGRI career development award (K99HG011491). The contents of this paper are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. More information about CSER can be found at https://cser-consortium.org/.

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Authors and Affiliations

  1. Department of Population Medicine, Harvard Medical School, 401 Park Drive, Suite 401, Boston, MA, 02215, USA

    Hadley Stevens Smith

  2. Kaiser Permanente Center for Health Research, Portland, OR, USA

    Michael Leo

  3. Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Portland, OR, USA

    Katrina Goddard & Kristin Muessig

  4. Institute for Sexual and Gender Minority Health and Wellbeing, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA

    Frank Angelo

  5. Department of Internal Medicine, Division of Epidemiology, University of Utah, Salt Lake City, UT, USA

    Sara Knight

  6. Program in Bioethics, University of California San Francisco, San Francisco, CA, USA

    Simon Outram

  7. Department of Pediatrics, Division of Pediatric Genetic Medicine, Children’s Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA

    Nicole R. Kelly

  8. Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, The Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL, USA

    Christine Rini

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  1. Hadley Stevens Smith
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Contributions

All authors contributed to the study conception and design. Data analysis was performed by ML. The first draft of the manuscript was written by HSS and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Hadley Stevens Smith.

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Dr. Smith reports receiving consulting income from Illumina, Inc. unrelated to this work. The other authors declare no competing interests.

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Smith, H.S., Leo, M., Goddard, K. et al. Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions. Qual Life Res (2024). https://doi.org/10.1007/s11136-024-03623-1

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