Autism, macrocephaly and epilepsy: Is it a casual association?

Objective Autistic disorder (AD) has been classified among the pervasive developmental disorders according to DSM IV (1994). At present, its etiopathogenesis seems to be related to a neurobiological multifactoriality. Epilepsy is frequently reported in AD; previously we found a prevalence of 23.6'7r. Neurological examination in cases of AD does not generally disclose important signs but macrocephaly is sometimes reported. Materials and methods We describe 16 patients with AD who presented macrocephaly of whom 37.5% had epilepsy or febrile convulsions (FC). They did not have any acquired or congenital encephalopathy. Results They were 15 males. 1 female (mean age. 15 years 5 months). Cerebral CT and MRI. performed in all cases, showed mild cerebral lesions in 8 of 16 cases (50.0%). Epilepsy was present in 6 of 16 cases (37.5%): 4 partial. 1 generalized epilepsies, 1 FC. Seizures were frequently partial with or without secondary generalization. All 16 cases presented different degrees of mental retardation. Discussion Few literature reports describe macrocephaly in AD even if this association does not seem to be a casual one. However these data are generally reported as an autologus sign not associated, with epilepsy. Primary macrocephaly is more frequently reported in males and mental retardation is commonly associated in these cases. Similarly, in AD males prevail and most individuals present mental retardation. Moreover, as reported above, epilepsy prevalence is higher in AD than in the general population. Conclusions All these data might account for the particular association between macrocephaly, autism and epilepsy. However the hypothesis that the relation between these factors is not casual but represents a peculiar clinical picture must he entertained and deserves further investigation.