Genetic causes of mental handicap and opportunities for prevention

Prior to 1970 nearly one half of severe mental handicap (IQ less than 50) was unexplained and genetic causes were recognized in one third of all patients. In recent years the genetic contribution has risen to 50%, with the decline in importance of environmental causes and the growing recognition of X-linked forms of mental retardation and chromosomal microdeletion syndromes. Recognition of genetic conditions is vital for accurate assessment of recurrence risks and in order, in some instances, to provide specific prenatal diagnosis. With full utilization of existing prenatal screening procedures and a more detailed family history, severe mental handicap due to genetic conditions should be reduced by 30-40%.