Table 1

Clinical characteristics of the WBS individuals with associated ASD

WBS1WBS2WBS3WBS4WBS5WBS6WBS7WBS8
Birth year19871985200020062002200820012010
GenderFMMMFMFF
Relevant family historyNoNoYes*NoNoYes†NoNo
Age at WBS diagnosis7 y3 y5 m3 m3 m2 y5 y1 y
Age at ASD diagnosis4 y10 y6 y5 y12 y5 y3 y5 y
ADI-R
 A2211112214101918
 B (V)74
 B (NV)101274149
 C84688695
 D54153445
IQ (WISC-R)40<4041<40
Other neurological symptomsADHDADHDBehavioural problemsEpilepsy, ADHDADHD
Cardiovascular diseaseNDSVASCoarctation of aortaSVASSVASSVASSVASND
Endocrine abnormalitiesNDNDNDNDEarly pubertyNDEarly pubertySubclinical 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.