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

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 selfidentified 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.

Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life

“…The included studies stemmed from 10 different countries: Australia [ 29 ], Brazil [ 30 ], Canada [ 31 ], Germany [ 32 , 33 , 34 , 35 ], Iran [ 36 , 37 , 38 ], Ireland [ 39 ], the Netherlands [ 40 , 41 , 42 , 43 , 44 , 45 ], Poland [ 46 ], Sweden [ 47 ], and the U.S. [ 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 ]. Of the 31 studies, 28 used a cross-sectional design [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 46 , 47 , 48 , 50 , 51 , 52 , …”

“…Of the 31 studies, 28 used a cross-sectional design [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 46 , 47 , 48 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 58 , 59 ], whereas three were cohort studies [ 45 , 49 , 55 ]. Table 2 lists the children’s rare diseases by clinical category, which included chromosomal disorders [ 40 , 53 , 54 , 58 ], congenital diseases [ 34 , 44 , 45 ], hematologic and oncologic diseases [ 33 , 37 , 43 , 47 , 56 , 58 ], inflammatory diseases [ 39 , 41 , 48 , 49 , 59 ], metabolic disorders [ 32 , 36 ,…”

“…Table 2 lists the children’s rare diseases by clinical category, which included chromosomal disorders [ 40 , 53 , 54 , 58 ], congenital diseases [ 34 , 44 , 45 ], hematologic and oncologic diseases [ 33 , 37 , 43 , 47 , 56 , 58 ], inflammatory diseases [ 39 , 41 , 48 , 49 , 59 ], metabolic disorders [ 32 , 36 , 38 , 42 , 50 , 51 , 57 ], musculoskeletal diseases [ 30 , 35 , 46 , 52 ], and neuromuscular and neurologic disorders [ 29 , 31 , 40 , 55 ]. Four studies examined only mothers [ 37 , 43 , 54 , 55 ], 27 studies examined both mothers and fathers [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 38 , 39 , 40 , 41 , 42 , ...…”

“…Four studies examined only mothers [ 37 , 43 , 54 , 55 ], 27 studies examined both mothers and fathers [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 38 , 39 , 40 , 41 , 42 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 58 , 59 ]. Five studies did not differentiate between male and female caregivers [ 31 , 36 , 50 , 51 , 58 ]. The gender distribution showed a higher percentage of women compared to men in all studies.…”

“…In this regard, a variety of QoL instruments was used. The most frequently used instrument was the PedsQL™ Family Impact Module, used in seven studies [ 31 , 50 , 52 , 53 , 54 , 55 , 56 ]. A wide range of studies also used the Short Form Inventory in the different versions SF-8 [ 34 , 35 ], SF-12 [ 29 , 49 , 56 ], and SF-36 [ 36 , 47 , 55 ].…”