Health-related quality of life in children and adolescents living with Gaucher disease and their parents

Figures & data

Table 1. Sample characteristics.

Characteristics	Mean (SD), Range	Median (IQR)	(n) %
Patient age (years)	10.3 (4.60), 3–18	10 (7.88)
Age groups
2–4			3 (15)
5–7			5 (25)
8–12			5 (25)
13–18			7 (35)
Gender
Male			11 (55)
Female			9 (45)
Severity level (GD)
Mild			11 (69)
Moderate			9 (31)
Severe			0 (0)
SES (family self-report)
Low			2 (10)
Middle-low			8 (40)
Middle-high			10 (50)
High			0 (0)
Treatment frequency (past 4 weeks) (n = 18)	1.94 (0.24), 1–2	2 (0)
Time on ERT (months) (n = 18)	51.94 (38.39), 2–115	37.5 (62)
Current treatment dose (Un/kg) (n = 18)	784.06 (949.59), 30–3000	90 (1469)
Age-adjusted SSI (n = 18)	7.17 (5.59), 3–29	6 (1.75)
Splenectomy
Yes			1 (5)
No			17 (85)
Missing values			2 (10)
Patients by region of Spain
Andalucía			2 (10)
Aragón			5 (25)
Castilla y León			1 (5)
Extremadura			4 (20)
Rioja			1 (5)
Madrid			3 (15)
Murcia			1 (5)
Valencia			3 (15)

IQR: interquartile range; ERT: enzyme replacement therapy.

Table 2. Descriptive scores and reliability of the PedsQL 4.0 applied to pediatric patients with GD.

PedsQL 4.0	Number of items	Reliability α	N	Min.	Max.	Mean	SD	Median	IQR
Child self-report
Summary Score | Total Score	23	.87	17	61.96	97.83	86.76	10.89	91.30	14.67
Physical Health Summary Score	8	.77	17	59.38	100	90.25	12.44	93.75	14.06
Psychosocial Health Summary Score	15	.79	17	58.33	96.67	84.90	11.20	88.33	13.33
Emotional Functioning	5	.58	17	45	100	86.18	15.26	90	20
Social Functioning	5	.57	17	50	100	87.94	13.81	90	17.50
School Functioning	5	.54	17	55	95	80.59	10.73	80	12.50
Parent proxy-report
Summary Score | Total Score	23	.96	20	40.22	100	84.30	17.22	91.84	28.32
Physical Health Summary Score	8	.93	20	31.25	100	86.72	19.89	95.31	25.78
Psychosocial Health Summary Score	15	.94	20	41.67	100	83.01	17.40	91.67	25.77
Emotional Functioning	5	.74	20	45	100	83.50	16.94	87.50	28.75
Social Functioning	5	.88	20	40	100	87.50	19.30	100	20
School Functioning	5	.81	20	30	100	77.50	22.14	85	13.75

α: Cronbach’s alpha; SD: standard deviation; IQR: interquartile range; PedsQL (Scores range from 0 to 100; high scores indicate better health-related quality of life).

Table 3. Correlation between a GD clinical indicator (SSI) and HRQoL scores.

PedsQL 4.0 Subscales	Severity Score Index age-adjusted
	rho (p)
Child Self-Report (n = 15)
Summary Score | Total Scale Score	−.79 (.001)
Physical Health Summary Score	−.63 (.011)
Psychosocial Health Summary Score	−.68 (.005)
Emotional functioning	−.30 (.275)
Social functioning	−.79 (.000)
School functioning	−.50 (.057)
Parent Proxy-Report (n = 18)
Summary Score | Total Scale Score	−.52 (.010)
Physical Health Summary Score	−.49 (.037)
Psychosocial Health Summary Score	−.63 (.005)
Emotional Functioning	−.69 (.002)
Social Functioning	−.62 (.006)
School Functioning	−.37 (.129)

Rho: Spearman’s rank correlation; SSI (higher scores indicate worse clinical status and prognosis); PedsQL (high scores indicate better health-related quality of life).

Table 4. Associations of symptoms and perceived burden related to GD with HRQoL (PedsQL) scores.

PedsQL 4.0 Subscales	Symptoms and perceived burden associated with the illness
	Mdn (yes/no), Mann-Whitney U test (p), r
	Bone and/or joint pain	Abdominal pain	Frequent or abnormal bleeding (any type)	Fatigue	Feeling ill (I could not do what I wanted)	Feeling sad
Child self-report (n = 17)	yes = 9, no = 8	yes = 8, no = 9			yes = 6, no = 11	yes = 3, no = 14
Summary Score | Total Scale Score	ns	ns	ns	ns	79 / 92 U = 7.00 (.008), r = −.64	74 / 91 U = 2.00 (.016), r = −.58
Physical Health Summary Score	ns	ns	ns	ns	Ns	62 / 94 U = 1.00 (.009), r = −.63
Psychosocial Health Summary Score	87 / 92 U = 14.00 (.033), r = −.51	ns	ns	ns	75 / 90 U = 3.00 (.002), r = −.73	72 / 90 U = 4.00 (.031), r = −.52
Emotional Functioning	ns	ns	ns	ns	72 / 95 U = 12.50 (.036), r = −.51	70 / 95 U = 4.50 (.035), r = −.51
Social Functioning	ns	85 / 100 U = 15.00 (.038), r = −.50	ns	ns	85 / 100 U = 12.00 (.030), r = −.53
School Functioning	80 / 90 U = 11.00 (.014), r = −.59	ns	ns	ns	72 / 85 U = 7.00 (.008), r = −.65	60 / 85 U = 4.00 (.029), r = −.53
Parent proxy-report (n = 20)			yes = 3, no = 17	yes = 9, no = 11		yes = 4, no = 16
Summary Score | Total Scale Score	ns	ns	63 / 93 U = 5.00 (.030), r = −.49	76 / 94 U = 18.00 (.016), r = −.54	ns	62 / 94 U = 5.00 (.011), r = −.57
Physical Health Summary Score	ns	ns	59 / 97 U = 3.00 (.014), r = −.55	69 / 100 U = 13.50 (.005), r = −.63	ns	56 / 98 U = 5.00 (.008), r = −.59
Psychosocial Health Summary Score	ns	ns	65 / 92 U = 6.00 (.038), r = −.46	81 / 93 U = 25.50 (.027), r = −.49	ns	65 / 92 U = 5.50 (.012), r = −.56
Emotional Functioning	ns	ns	70 / 90 U = 5.50 (.031), r = −.48	ns	ns	62 / 90 U = 2.50 (.005), r = −.63
Social Functioning	ns	ns	80 / 100 U = 7.50 (.037), r = −.47	80 / 100 U = 22.00 (.022), r = −.51	ns	70 / 100 U = 10.50 (.026), r = −.50
School Functioning	ns	ns	ns	ns	ns	60 / 90 U = 8.00 (.021), r = −.52

Mdn: median; r: effect size estimate (from Rosenthal, 1991); ns: non-significant; PedsQL (Scores range from 0 to 100; high scores indicate better health-related quality of life).

Rosenthal, R. (1991). Meta-analytic procedures for social research (revised). Newbury Park, CA: Sage.

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