Autism is a pervasive developmental disorder that is aetiologically and cli
nically heterogeneous. Twin and family genetic studies provide evidence for
strong genetic components.An international consortium using an affected si
b pair strategy has found a promising linkage to a region on chromosome 7.
In 10-15 % of the cases autism is due to associated medical conditions that
affect normal brain functioning. Post-mortem studies on small case series
report cellular abnormalities in the limbic system and cerebellum. Between
10 and 20 % of subjects with autism have macrocephalia, which is in accorda
nce with MRI findings of an increased total brain tissue volume and enlarge
ment most prominent in the occipital and parietal lobes. The most robust an
d well-replicated neurobiological abnormality in autism is an elevation of
whole blood serotonin found in over 30 % of the patients. Pharmacological i
nterventions with serotonin reuptake blockers or with atypical neuroleptics
that block both dopamine (D-2) and serotonin (5-HT2) receptors seem to off
er clinical benefit and merit further study.