Table I.
Clinical characteristics of study and comparison groups
| Characteristic | TSC (n=64) | NF1 (n=50) | EUC (n=66) | AC-ASD (n=210) | AC comparison group (n=130) |
|---|---|---|---|---|---|
| Sex | |||||
| Male n (%) | 27 (42) | 31 (62) | 32 (48) | 167 (79) | 60 (46) |
| Female (%) | 37 (58) | 19 (38) | 34 (52) | 43 (21) | 71 (54) |
| Age at evaluation, y (range) | 22 (4–62) | 25 (4–63) | 16 (4–49) | 9 (4–22) | 10 (4–21) |
| Epilepsy n (%) | 53 (83) | 3 (6) | 100 | 15 (7) | 0 (0) |
| Mean age at onset, y (range) | 2.1 (0–21) | 2.0 (0–5) | 6 (0–17) | 3 (0–12) | – |
| Refractory n (%) | 26 (49) | 0 (0) | 25 (38) | 5 (42) | – |
| Mean nr of AEDs (range) | 1.5 (0–4) | 1 (0–1) | 1.6 (0–5) | 2 (1–5) | – |
| Seizure type (%) | |||||
| IS | 23 (36) | – | – | 3 (20) | – |
| Prim gen | – | 1 (33) | 34 (52) | 3 (20) | – |
| Absence | – | – | 8 (23) | 1 (33) | – |
| TC | – | – | 32 (60) | – | – |
| TC + absence | – | 1 (100) | 4 (11) | 2 (67) | – |
| Other | – | – | 2 (6) | – | – |
| Focal simple | 4 (8) | – | 4 (6) | – | – |
| Focal complex | 49 (92) | 2 (67) | 28 (42) | – | – |
| Unknown | – | – | – | 12 (80) | – |
| Mean IQ/DQ | 76 (15–134) | 101 (88–113a) | 80 (40–128) | 95 (34–148) | 111 (83–145) |
| Intellectual disability n (%) | 30 (47) | 3 (6) | 21 (32) | 40 (19) | 0 |
| Specific learning disability n (%) | 12 (19) | 23 (46) | 13 (20) | 103 (49) | n/a |
| ASD diagnosis | 15 (23) | 1 (2) | 10 (15) | 100 | 0 (0) |
| Autism | 15 (100) | – | 40 (44) | 188 (89) | – |
| Other ASD | – | 1(100) | 60 (56) | 22 (11%) | – |
| SRS | |||||
| Total score, mean (range) | 67 (36–95) | 60 (34–95) | 62 (35–95) | 81 (43–95) | 49 (34–95) |
| Social awareness | 59 (30–95) | 53 (30–77) | 54 (30–81) | 72 (36–95) | 45 (30–88) |
| Social cognition | 65 (36–95) | 60 (36–95) | 62 (36–95) | 79 (45–95) | 49 (36–95) |
| Social communication | 65 (37–95) | 58 (36–95) | 60 (37–95) | 79 (39–95) | 51 (37–95) |
| Social motivation | 64 (37–95) | 59 (37–95) | 61 (37–95) | 73 (37–95) | 51 (37–95) |
| Mannerisms | 69 (41–95) | 65 (40–95) | 64 (40–95) | 82 (42–95) | 50 (40–95) |
Numbers and percentages in subgroups are reflected as a fraction of the total of the subgroup.
a
Only three IQ scores were available for the NF1 cohort.
TSC, tuberous sclerosis complex; NF1, neurofibromatosis type 1; EUC, childhood-onset epilepsy of unknown cause; AC, Autism Consortium; ASD, autism spectrum disorder; AED, antiepileptic drug; IS, infantile spasms; Prim gen, primary generalized; TC, tonic–clonic; DQ, developmental quotient; n/a, no information available; SRS, Social Responsiveness Scale.