The autor report the main clinical, histological and biochemical criteria for the diagnosis of the syndromes wich autistic behavior is one of the main signs: neurocutaneus syndromes, abiotrophic encephalopathies, dismetabolic encephalopathies. Particular attention is focused on the mitochondrial alterations in Rett Syndrome. The autors 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 the lysosomal, mitochondrial and peroxisomal metabolism.

The strategy of investigating autistic syndrome in childhood.

FABRIZI, Gian Maria;
1990-01-01

Abstract

The autor report the main clinical, histological and biochemical criteria for the diagnosis of the syndromes wich autistic behavior is one of the main signs: neurocutaneus syndromes, abiotrophic encephalopathies, dismetabolic encephalopathies. Particular attention is focused on the mitochondrial alterations in Rett Syndrome. The autors 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 the lysosomal, mitochondrial and peroxisomal metabolism.
1990
autism; neurometabolic disease; abiotrophic disease; neurocutaneus syndrome
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/429183
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