Table 1 Main features of patients affected by Williams Beuren syndrome (WBS) and Autism Spectrum Disorder (ASD)
WBS patients | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
Gender | M | M | F | M | M | M |
Typical dysmorphic features | + | + | + | + | + | + |
Age at last examination | 15y6m | 23y9m | 9y10m | 18y | 10y8m | 16y |
ASD | + | + | + | + | + | + |
ADOS | Module 1 | Module 1 | Module 1 | Module 3 | – | – |
Communication (cut-off autism) | 5 (≥4) | 4 (≥4) | 6 (≥4) | 3 (≥3) | – | – |
Reciprocal social interaction (cut-off autism) | 13 (≥7) | 11 (≥7) | 12 (≥7) | 9 (≥6) | – | – |
Communication + social interaction total (cut-off autism) | 18 (≥12) | 15 (≥12) | 18 (≥12) | 12 (≥10) | – | – |
Play | 4 | 4 | 4 | 3 | – | – |
Repetitive behaviors and stereotyped patterns | 4 | 3 | 5 | 2 | – | – |
CARS (cut-off: mild/moderate ASD > 30; severe ASD > 37) | – | – | – | – | 34 | 45,5 |
Motor stereotypies | + | + | + | + | + | + |
Speech | No speech | No speech | Few words | Sentences | Sentences | Few words |
Fragile X molecular analysis | N | N | N | N | N | N |
7q11.23 typical deletion | + | + | + | + | + | + |
Parental origin of the deleted 7q11.23 allele | Maternal | Maternal | – | Maternal | Maternal | Paternal |