Table 1 Summary of patient characteristics
From: Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update
| Â | KKI | NIH | Full sample |
|---|---|---|---|
n | 22 | 11 | 33 |
Male, n (%) | 13 (59Â %) | 6 (55Â %) | 19 (58Â %) |
Age, years (M ± SD) | 8.04 ± 3.63 | 10.84 ± 6.29 | 8.98 ± 4.78 |
Anatomical severity (M ± SD) | 13.45 ± 7.22 | 11.73 ± 5.12 | 12.88 ± 6.56 |
Simvastatin, n (%) | 0 | 1 (9Â %) | 1 (3 %) |
Cholesterol supplementation, n (%) | 22 (100Â %) | 8 (73Â %) | 30 (91Â %) |
Clinical judgment of autism diagnosis | |||
 ASD | 15 (68 %) | 3 (27 %) | 18 (55 %) |
 Nonspectrum | 7 (32 %) | 8 (73 %) | 15 (45 %) |
ADOS classification | |||
 Autism | 16 (73 %) | 4 (36 %) | 20 (61 %) |
 Autism spectrum | 2 (9 %) | 2 (18 %) | 4 (12 %) |
 Nonspectrum | 4 (18 %) | 5 (45 %) | 9 (27 %) |
ADI-R classification | |||
 Autism | 11 (50 %) | 8 (73 %) | 19 (58 %) |
 Nonspectrum | 11 (50 %) | 3 (27 %) | 14 (42 %) |
Vineland-II Adaptive Behavior Composite (M ± SD) | 49.18 ± 17.56 | 58.82 ± 12.94 | 52.39 ± 16.60 |
Nonverbal IQ (M ± SD) | 47.45 ± 24.22 | 45.15 ± 17.56 | 46.68 ± 21.96 |
Verbal IQ (M ± SD) | 39.44 ± 30.23 | 41.50 ± 17.86 | 40.17 ± 26.19 |
Full-scale IQ (M ± SD) | 44.20 ± 25.26 | 42.41 ± 16.75 | 43.57 ± 22.33 |