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Shah, Ami J.; Sokolic, Robert; Logan, Brent; Yin, Ziyan; Iyengar, Sumathi; Scalchunes, Chris; Mangurian, Christina; Albert, Michael; Cowan, Morton J. (2019): 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. In: Journal of Clinical Immunology, Vol. 39, No. 8: pp. 786-794
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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 (TM) 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 PedsQLT 4.0 and the parent proxy form;21 completed only the PedsQLT 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.