The strategy of investigating autistic syndromes in childhood

The authors report the main clinical, histological and biochemical criteria for the diagnosis of the syndromes in which autistic behavior is one of the main signs: neurocutaneous syndromes (tuberous sclerosis, hypomelanosis of Ito, incontinentia pigmenti, Peuts-Jeghers syndrome), abiotrophic encephalopathies (neuroaxonal dystrophy, neuronal intranuclear inclusion disease), dismetabolic encephalopathies (diseases impairing lysosomal, peroxisomal, mitochondrial metabolism). Particular attention is focused on the mitochondrial alterations in Rett syndrome. The authors conclude that in each case an extensive strategy of investigation must be developed including accurate genetic history, clinical examination, morphological analyses of bioptic material, biochemical investigations of lysosomal, mitochondrial and peroxisomal metabolism.