ABSTRACT

The effect of genetic syndromes on cognitive ability was widely investigated during the 1990s. Cognitive patterns connected with gene mutations have generally been associated with conditions of mental retardation. However, this classification is now considered an over-simplification since: (1) several studies have demonstrated that the different conditions produce different intellectual levels; and (2) similar general intelligence scores can also present typical cognitive patterns. There are evident differences between Down and Williams syndromes, as well as between Turner syndrome and Fragile-X mutations. In particular, a peculiar pattern of visuo-spatial abilities has been highlighted in the different pathologies and often investigated in a direct comparison, for example, between Down and Williams syndromes. In the following paragraphs we will analyse visuo-spatial functions in the different populations from neurobiological, neuropsychological, and behavioural perspectives.