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Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia: a Study of the Primary Immune Deficiency Consortium (PIDTC), Immune Deficiency Foundation, and the Wiskott-Aldrich Foundation

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Abstract

Background

We undertook a study to determine the impact of Wiskott Aldrich Syndrome (WAS) and X-linked thrombocytopenia (XLT) and their therapies upon the health-related quality of life (HRQOL) of patients and their families.

Materials and Methods

We undertook a survey of patients and their families, who self-identified as having either WAS or XLT. We assessed the PedsQL™ 4.0, the parent proxy form, and the family impact module. These results were compared with normative data from previously published reports.

Results

Sixty-eight patients (29 patients completed both the PedsQL™ 4.0 and the parent proxy form; 21 completed only the PedsQL™ 4.0; and 18 completed only the parent proxy form) were included. In contrast to patient-reported outcomes, parents of patients who had a bone marrow transplant (BMT) reported that their children had better QOL scores compared with those who did not (82.6 vs. 73.3, p = 0.023). The QOL of patients vs. previously published normative data showed decreases in patient scores for psychosocial health (72.62 vs. 86.58, p = < 0.001), emotional functioning (69.91 vs. 82.64, p = < 0.001), social functioning (77.55 vs. 91.56, p = < 0.001), and school functioning (70.46 vs. 85.67, p = < 0.001). The family impact study revealed deficits in emotional, social, and cognitive functioning, communication, and worry.

Conclusion

These results show that patients with WAS/XLT are significantly impacted with respect to QOL. BMT offered a better QOL for patients according to parents, but not as reported by the patients. Future studies should incorporate QOL to provide more data and a better understanding of outcomes for long-term survivors and decision-making regarding BMT.

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Acknowledgments

The authors would like to thank patients and families who participated in this study. The authors are grateful to the advice of Kathy Ruccione RN and Wendy Packman, and Robertson Parkman, MD, and Kenneth Weinberg, MD, for critical review of the manuscript.

Funding

BL and MJC received financial support from NIH NIAID AI U54-082973.

Author information

Authors and Affiliations

  1. Division of Stem Cell Transplantation and Regenerative Medicine, Lucille Packard Children Hospital, Stanford School of Medicine, Stanford, USA

    Ami J. Shah

  2. Lifespan Cancer Institute, Alpert Medical School of Brown University, Providence, USA

    Robert Sokolic

  3. Division of Biostatistics, Medical College of Wisconsin, Milwaukee, USA

    Brent Logan & Ziyan Yin

  4. Wiskott-Aldrich Foundation, Smyrna, USA

    Sumathi Iyengar

  5. Immune Deficiency Foundation, Towson, USA

    Chris Scalchunes

  6. Department of Psychiatry, University of California-San Francisco, San Francisco, USA

    Christina Mangurian

  7. Hauner University Children’s Hospital, Ludwig-Maximilians Universitat Munich Germany, Munich, Germany

    Michael Albert

  8. Division of Allergy, Immunology and Blood and Marrow Transplantation, Benioff Children’s Hospital, University of California-San Francisco, San Francisco, USA

    Morton J. Cowan

Authors
  1. Ami J. Shah
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  2. Robert Sokolic
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  3. Brent Logan
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  4. Ziyan Yin
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  5. Sumathi Iyengar
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  6. Chris Scalchunes
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  7. Christina Mangurian
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  8. Michael Albert
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  9. Morton J. Cowan
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Contributions

AS, MC, and BL analyzed and interpreted the data.

RS, SI, CS, CM, MHA, and MC designed the study.

BL and ZY provided statistical analysis.

Corresponding author

Correspondence to Ami J. Shah.

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Conflict of Interest

The authors declare that they have no conflict of interest.

Disclaimer

The opinions expressed are those of the authors and do not represent the position of the National Institute of Allergy and Infectious Diseases, the Office of Rare Diseases Research, the National Center for Advancing Translational Research, and the National Institutes of Health, of the US Government.

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Shah, A.J., Sokolic, R., Logan, B. et al. Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia: a Study of the Primary Immune Deficiency Consortium (PIDTC), Immune Deficiency Foundation, and the Wiskott-Aldrich Foundation. J Clin Immunol 39, 786–794 (2019). https://doi.org/10.1007/s10875-019-00689-2

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  • DOI: https://doi.org/10.1007/s10875-019-00689-2

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