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Table 1 Main features of patients affected by Williams Beuren syndrome (WBS) and Autism Spectrum Disorder (ASD)

From: Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

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
  1. +: present; N negative. ADOS Autism Diagnostic Observation Schedule, CARS Childhood Autistic Rating Scale. -: not available