Journal of Pediatric Sciences A diagnostic protocol for autism: an Italian experience

Introduction Pervasive developmental disorders (PDD) are characterized by social and communication deficits, repetitive and stereotyped behaviours and onset before 3 years of age [1]. Prevalence of PDD has increased over the past 10 years and now it is ranging from 60 to 70 per 10.000 [2], with a male-to-female ratio of 3-4:1; these data do not include the Rett disorder. The dramatic increment of PDD has been attributed mostly to a broader diagnosis due to the improved public awareness and a higher degree of professional understanding of the disorders, although a biologic increase should also be considered [3,4]. The disorders most frequently associated with autism are epilepsy and mental retardation. Since the first description by Kanner in 1943 [5], the association between PDD and epilepsy has been observed in a percentage ranging from 4 to 42% of the patients; these values are largely higher than those in the general population [6]. Mental retardation is frequently present in subjects with PDD, in fact 70-90% of cases has an intelligence quotient (IQ) < 70 and 40% of the latter cases has an IQ < 50 [7]. Abstract: Background and aims: The usefulness of a protocol for aetiologic diagnosis in pervasive developmental disorders (PDD) has been considered in literature and the results are heterogeneous. We addressed this topic, evaluating an Italian sample of patients with PDD.