Table 1.
CSF and serum sample characteristics and assayed methods.
| Group | Age (years) | Sex, n (%) | Assay Method | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| n | Median | Range | Female | Male | CSF | Serum | ||||
| Q1 | Q3 | Full | PEA | ELISA | Simoa™ | |||||
| CLN3 | 21 | 11.4 | 7.8 | 15.4 | 6.8 - 20.7 | 10 (48) | 11 (52) | ✓ | ✓ | ✓ |
| Comparators (n) | 32 | 33 | 34 | |||||||
| Pediatric Laboratory Controls | 20 | 12.5 | 7.5 | 15.5 | 3.0 – 20.0 | 10 (50) | 10 (50) | ✓ | ||
| PLC subset | 9 | 14.0 | 7.0 | 17.0 | 4.8 – 20.0 | 2 (22) | 7 (78) | ✓ | ✓ | |
| Pediatric Healthy Siblings | 10 | 10.8 | 9.4 | 13.3 | 6.3 - 18.7 | 4 (40) | 6 (60) | ✓ | ||
| CTD | 12 | 7.0 | 3.9 | 10.8 | 3.2 - 14.3 | 0 | 12 | ✓ | ✓ | ✓ |
| SLOS | 12 | 9.4 | 5.2 | 13.7 | 2.6 – 21.0 | 5 (42) | 7 (58) | ✓ | ✓ | |
CSF: cerebrospinal fluid. CTD: creatine transporter deficiency. ELISA: enzyme-linked immunosorbent assay. PEA: proximal extension assay. PLC: pediatric laboratory controls. Q1: quartile 1, 25th percentile. Q3: quartile 3, 75th percentile. Simoa™: single molecule array. SLOS: Smith-Lemli-Opitz syndrome.