Table 1.
Demographic and baseline characteristics of 23 pediatric NOMID patients
| Demographics | Baseline clinical characteristics | ||
|---|---|---|---|
| Age-years+/− SD | 6.3 ± 5.7 | Growth retardation (< 3rd %) | 17 (71) |
| Age group | CNS damage | ||
| 0–3 years | 11 (46) | Stroke | 2 (8) |
| 4–8 years | 5 (25) | Seizures | 4 (17) |
| 9–12 years | 3 (13) | Papilledema₰ | 21 (100) |
| 13–18 years | 2 (8) | Below average cognitive function (IQ) | 11 (46) |
| ≥18 years | 2 (8) | Extremely low (<70) | 5 (21) |
| Sex | Borderline (70–79) | 2 (8) | |
| Female | 12 (50) | Low average (80–89) | 4 (16) |
| Male | 11 (50) | Abnormalities on brain MRI | |
| Race | Ventriculomegaly | 12 (54) | |
| White | 10 (46) | Arachnoid adhesions | 13 (54) |
| Latino | 8 (33) | Leptomeningeal enhancement τ | 7 (43) |
| Asian | 4 (17) | Dura enhancement τ | 7 (43) |
| Black | 1 (4) | Cochlear enhancement τ | 14 (94) |
| Native American | 0 | VP shunt | 2 (8) |
| NLRP3* mutations | 23 (100) | Inner ear damage (hearing loss) | 19 (83) |
| Mild (>20 to ≤40 dB) | 6 (32) | ||
| Moderate (>40 to ≤70dB) | 7 (37) | ||
| Severe (>70 to ≤95 dB) | 5 (26) | ||
| Profound (>95 dB) | 1 (5) | ||
| Bone damage | |||
| Bone overgrowth | 10 (46) | ||
| Joint contractures | 13 (58) | ||
| Limb length discrepancies | 4 (21) | ||
Except otherwise, values are the number (%) of patients.
₰
recorded in 21 patients
τ
assessed in 15/17 patients, 6/23 patients were on anakinra prior to enrollment
*
4 patients had germline mosaicism