High frequency of autistic traits in Williams

VI CONGRESSO BRASILEIRO DE TRIAGEM
NEONATAL / XXII CONGRESSO BRASILEIRO DE
GENÉTICA MÉDICA
SALVADOR – BA, 07 A 10 DE SETEMBRO DE 2010
High frequency of autistic traits in Williams-Beuren patients
Nunes MM1; Assumpção Junior, FB1; Sayuri, RS1;Dutra, RL1; Amaral, VAS1; Bertola, DB1;Albano, LMJ1; Oh,
HK2; Kim,CA1.
1.Unidade de Genética, Instituto da Criança/FMUSP, São Paulo, Brazil. 2. College of Alternative Medicine, Jeonju, Korea..
ABSTRACT
Williams-Beuren syndrome (WBS) is characterized by elfin facies, congenital heart disease (supravalvar
aortic stenosis), mental retardation and peculiar hypersociable behavior. It is caused by microdeletion of 1.5
to 1.8Mb in 7q.11.23 region. We studied 31 WBS patients (20 M and 12 F) and their age ranged from 9 to
26 years (median 14y). The diagnosis of WBS was confirmed by FISH, MLPA or microsatellite markers
analysis in all patients. The objectives were to evaluate cognitive ability, the execution IQ, verbal and total,
the frequency of visual-spatial deficits and autistic traits. The tests used were: WISC-III, WAIS-III, Rey
Complex Figure and scale of autistic traits (ATA). All patients had cognitive impairment in all tests, the
total IQ ranged from 51 to 86 (median 63): 22 with mild mental retardation, 4 moderate, 4 borderline and 1
on average lower. All patients had marked visual-spatial deficit. The frequency of autistic traits were found
in 13/31 patients (41.94%) with predominance in males (10M:3F). No correlation was found between the
size of the deletion and the presence or absence of autism. Our study reinforces the importance of the
systematic assessment of the cognitive function in WBS patients and alert for the presence of a high
frequency of autistic traits, opposite of overfriendliness personality typically found in WBS patients. These
latter data are preliminary and further studies are necessary to confirm this specific finding in WBS.
Key-Words: Williams-Beurn syndrome. Autism. Microdeletion. Cognitive function.