Lorena Verucci, M. Cristina Digilio, Stefano Vicari

La sindrome del cromosoma 22q11.2

  • Abstract

Informations and abstract


The 22q11.2 deletion (del22) is a relatively common congenital anomaly syndrome (1/4000). Its major features are a characteristic facial appearance, velopharyngeal insufficiency, cleft palate and cardiac anomalies. Concerning the neuropsychological profile, several study report that individuals with del22 showed a discrepancy between language skills, relativity preserved, and visual-spatial abilities, impaired. In addition a review of literature, in this work we describe preliminary results of study in 11 children with del22 and in 11 typically developing (TD) children, matched for mental age (MA) in language, memory, visual-perceptive and visual-spatial tasks. The individuals with del22 were impaired in cognitive abilities commonly related with areas posterior of brain (parietal lobe), demonstrated reduced in this population.

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