Two previous epidemiological studies of autistic twins suggested that
autism was predominantly genetically determined, although the findings
with regard to a broader phenotype of cognitive, and possibly social,
abnormalities were contradictory. Obstetric and perinatal hazards wer
e also invoked as environmentally determined aetiological factors. The
first British twin sample has been re-examined and a second total pop
ulation sample of autistic twins recruited. In the combined sample 60%
of monozygotic (MZ) pairs were concordant for autism versus no dizygo
tic (DZ) pairs; 92% of MZ pairs were concordant for a broader spectrum
of related cognitive or social abnormalities versus 10% of DZ pairs.
The findings indicate that autism is under a high degree of genetic co
ntrol and suggest the involvement of multiple genetic loci. Obstetric
hazards usually appear to be consequences of genetically influenced ab
normal development, rather than independent aetiological factors. Few
new cases had possible medical aetiologies, refuting claims that recog
nized disorders are common aetiological influences.