Table 1.
Clinical characteristics of the WBS individuals with associated ASD
| WBS1 | WBS2 | WBS3 | WBS4 | WBS5 | WBS6 | WBS7 | WBS8 | |
| Birth year | 1987 | 1985 | 2000 | 2006 | 2002 | 2008 | 2001 | 2010 |
| Gender | F | M | M | M | F | M | F | F |
| Relevant family history | No | No | Yes* | No | No | Yes† | No | No |
| Age at WBS diagnosis | 7 y | 3 y | 5 m | 3 m | 3 m | 2 y | 5 y | 1 y |
| Age at ASD diagnosis | 4 y | 10 y | 6 y | 5 y | 12 y | 5 y | 3 y | 5 y |
| ADI-R | ||||||||
| A | 22 | 11 | 11 | 22 | 14 | 10 | 19 | 18 |
| B (V) | – | 7 | 4 | – | – | – | – | – |
| B (NV) | 10 | – | – | 12 | 7 | 4 | 14 | 9 |
| C | 8 | 4 | 6 | 8 | 8 | 6 | 9 | 5 |
| D | 5 | 4 | 1 | 5 | 3 | 4 | 4 | 5 |
| IQ (WISC-R) | 40 | <40 | 41 | <40 | ||||
| Other neurological symptoms | ADHD | ADHD | Behavioural problems | Epilepsy, ADHD | ADHD | |||
| Cardiovascular disease | ND | SVAS | Coarctation of aorta | SVAS | SVAS | SVAS | SVAS | ND |
| Endocrine abnormalities | ND | ND | ND | ND | Early puberty | ND | Early puberty | Subclinical hypothyroidism |
ADI-R scores: A. Social interaction (cut-off: 10); B. Communication and language, (V): verbal (cut-off: 8), (NV): non-verbal (cut-off: 7); C. Restricted and repetitive behaviours (cut-off: 3); D. Developmental alterations earlier than 36 months (cut-off: 1).
*Paternal aunt with ASD and severe ID.
†Father committed suicide.
ADHD, attention deficit hyperactivity disorder; ADI-R, Autism Diagnostic Interview-Revised; ASD, autism spectrum disorder; F, female; IQ, intellectual quotient; M, male; m, month; ND, not detected by standard testing; SVAS, supravalvular aortic stenosis; WBS, Williams-Beuren syndrome; WISC-R, Wechsler Intelligence Scale for Children-Revised; y, year.