Summary results of Autism Diagnostic Observation Schedule-Generic (ADOS-G) and IQ/developmental assessments in subjects with TCF20 mutations
| Family # | Patient ID | TCF20 abnormality | ADOS-G social communication score (age at assessment in years) | IQ/developmental quotient (test, age at assessment in years) |
|---|---|---|---|---|
| 1 | II-4 (proband) | Inversion break intron 1 | 13 (10 years) | Full scale 79, verbal 79, performance 79 (WPPSI-3, 3.5 years) |
| 1 | II-2 (brother) | Inversion break intron 1 | 16 (12 years) | Communication 45, daily living 55, socialisation 44 (VABS, 7 years) |
| 2 | proband | p.K512E | 16 (7 years) | Full scale 120 (WASI, 13 years) |
| 3 | proband | p.P1557L | 11 (8 years) | Performance 100 (Raven's matrices) |
| 4 | proband | p.P1557L | NA | NA |
| 5 | proband | p.P1557L | 11 (10 years) | Performance 80 (Raven's matrices) |
| 5 | brother | p.P1557L | NA | Performance 107 (Raven's matrices) |
| 6 | proband | p.K1173Rfs*5 | 12 (25 years) | Full scale 45, verbal 50, performance 47 (WISC-3, 14 years) |
NA, not available; VABS, Vineland Adaptive behaviour Scales; WASI, Wechsler Abbreviated Scale of Intelligence; WISC, Wechsler Intelligence Scale for Children; WPPSI, Wechsler Preschool and Primary Scale of Intelligence.