Table 1.
Demographic and clinical characteristics of patients included in the study.
| Characteristic | Adult patients | Pediatric/adolescent patients |
|---|---|---|
| (N = 17) | (N = 12) | |
| Age (years) | ||
| Mean (SD) | 38.7 (14.5) | 10.5 (4.7) |
| Range | 18.0–62.0 | 2.4–17.0 |
| Gender, n | ||
| Male | 5 | 6 |
| Female | 12 | 6 |
| Race/ethnicity, n | ||
| White | 16 | 2 |
| Asian | 0 | 2 |
| Other | 1a | 0 |
| Not collected | 0 | 8 |
| Type of ASMD, n | ||
| Type B | 14 | 9 |
| Type A/B | 2 | 1 |
| Missing | 1 | 2 |
| Age at ASMD diagnosis (years) | ||
| Mean (SD) | 14.3 (16.7) | 2.0 (1.1) |
| Median [range] | 4.0 [0.5–42.0] | 1.8 [0.8–3.5] |
| Age at onset of ASMD symptoms (years) | ||
| Mean (SD) | 6.6 (8.4) | 1.7 (1.0) |
| Median [range] | 2.0 [0.0–24.0] | 1.5 [0.5–3.0] |
| ASMD severityb (n, %) | ||
| Mild | 4 | – |
| Moderate | 10 | – |
| Severe | 2 | – |
| Very severe | 1 | – |
| Missing | 0 | – |
ASMD acid sphingomyelinase deficiency, SD standard deviation.
aOther reported race as White and Asian.
bAdult patient self-report; pediatric/adolescent patients did not self-report severity.