Resumo

PUENTE FERRERAS, Aníbal; FERNANDEZ LOZANO, María Paz; ALVARADO IZQUIERDO, Jesús María  e  JIMENEZ RODRIGUEZ, Virginia. Williams syndrome: A rare disease with contradictory symptomatology. rev.latinoam.psicol. [online]. 2011, vol.43, n.2, pp. 217-228. ISSN 0120-0534.

Williams syndrome (WS) is considered one of the rare or uncommon diseases. It has an incidence of a case each 20.000 live births. It is a genetic disorder, located on chromosome 7 (band 7q11.23), in 99% of cases. This genetic alteration affects the development and operation of the central nervous system. Does not exist cure for the disease but the social, emotional and cognitive symptoms can smooth. WS occurs almost exclusively in girls and exceptionally in children. The most striking feature of the WS is the discrepancy between the general intellectual functioning (mild or moderate delay) accompanied by outstanding linguistic skills, much higher than expected for their chronology and mental age. High number of cases shows cardiac and endocrine problems, sleep disturbances, selective hyperacusis and spatial cognition disorders.

Palavras-chave : rare diseases; genetic, cognitive functioning; linguistic functioning; social and emotional disorders.