Table 1.
Epileptic spasm subgroups according to aetiology including age at CSF sampling, neuroimaging, follow-up duration and outcomes. Individual data available in Supplementary Table 1.
| Aetiology | Med. age, range | Detailed aetiology | Follow-up, med. (range) | Ongoing epilepsy % a | Developmental outcomes (%) |
||||
|---|---|---|---|---|---|---|---|---|---|
| Norm. | Mild DD | Mod-sev DD | ASD | CP | |||||
| Genetic (n=8) | 0.95 (0.2–1.6) | CDKL5, FOXG1, SCN2A (all heterozygote), TBCK (homozygous), Trisomy 21, 16p13.11 microdeletion, 14q12 dup including FOXG1, progressive leukoencephalopathy (all n=1). | 2.75 (2–14) | 62.5 | 0 | 12.5 | 87.5 | 25 | 50 |
| Structural (n=11) | 0.7 (0.5–1.5) | FCD (n=6), hemispheric mal. (n=2), brain injury due to hypoglycaemia, HSVE and HIE (all n=1) | 2.5 (0.3–8.5) | 73 | 9 | 27 | 64 | 9 | 45 |
| Unknown (n=15) | 0.51 (0.25–0.8) | Unknown | 2.87 (0.1–9.5) | 20b | 13 | 47 | 33 | 13 | 0 |
a
Ongoing seizures or ongoing anti-epileptic treatment.
b
one patient had no follow-up (left country).
ASD: autistic spectrum disorder, CP: cerebral palsy, DD: developmental delay, FCD: focal cortical dysplasia, HSVE: Herps simplex virus encephalitis, mal.: malformation, med.: median, mod-sev: moderate-severe.