RESUMEN
AIM: Recent studies on the neuroanatomic, neurofunctional and/or neurochemical features of the autistic disorder (AD) gave many evidences suggesting the hypothesis that different organic factors may lead to a disruption of the cerebral development finally expressing with an autistic pattern. The aim of this study was to study a sample of subjects with AD with a wide protocol, including neurophysiological and radiological investigations as well as laboratory investigations in order to investigate the neurobiologic basis of the syndrome. METHODS: The patients group included 80 subjects diagnosed as having AD. All were examined with a protocol of investigations including: brain MRI; wakefulness and sleep EEG; VEP, ABR; karyotype and search of the fragile X; serum and urinary levels of serotonin, catecolamines, omovanillic acid, aminoacids, ammonium, lactic acid, creatine kinase, piruvic acid, calcium, uric acid, total proteins, antibodies against neurotrophic agents. RESULTS: Eighty-eight percent of subjects had at least one pathologic neurobiological parameter. CONCLUSIONS: This study highlights the different noxae involved in the etiopathogenesis of AD and the percentage that every biological factor has in the development of the autistic phenotype. Furthermore, it confirms that AD corresponds to an atypical behavioural phenotype expression of a cerebral dysfunction with heterogeneous etiology.
