Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Table 1 Population characteristics and disease history

Parameter	Pediatric cohort (age < 18 at baseline) N = 30			Adult cohort (age ≥ 18 at baseline) N = 29
Age range at baseline year	7–17			18–64
Age distribution n (years)	BL N = 30	Yr1 N = 28	Final N = 15	BL N = 29	Yr1 N = 22	Final N = 17
6–11	12	7	0	0	0	0
12–17	18	19	1	0	0	0
18–23	0	2	10	10	9	2
24–30	0	0	4	3	2	2
31–40	0	0	0	9	7	4
41–50	0	0	0	5	3	7
> 50	0	0	0	2	1	2
Sex, n (%)
Male	20 (66.7)			11 (37.9)
Female	10 (33.3)			18 (62.1)
Ethnicity, n (%)
Caucasian	27 (90.0)			27 (93.1)
Black	0			1 (3.4)
Hispanic	0			0
Asian	0			0
Other	3 (10.0)			1 (3.4)
Age at symptom onset
Mean (SD), years	2.52 (2.8)			7.94 (8.8)
Median (range)	2.00 (0.1,14.0)			4.00 (0.9, 30)
Age at diagnosis
Mean (SD), years	5.23 (3.6)			15.10 (13.5)
Median (range)	3.63 (1, 14.3)			11.00 (2, 45.1)
Splenectomy n (%)
Partial	0			1 ( 3.4)
Total	0			4 ( 13.8)

ISSN: 1750-1172