Preventable Forms of Autism?

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Science  19 Oct 2012:
Vol. 338, Issue 6105, pp. 342-343
DOI: 10.1126/science.1229178

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Autism has attracted enormous attention in recent years primarily because of the high incidence and the impact it has on patients' lives and their families, given its medical, social, financial, and emotional burdens (1, 2). There is growing acceptance that the incidence and prevalence of autism have dramatically increased over the past 20 years (3), although some of the increase relates to changing diagnostic terminology and criteria. The use of DNA microarrays and exome sequencing to detect pathological copy number variants (CNVs) and point mutations, respectively, is making progress in identifying genetic causes of autism. The recent confirmation that paternal age is a risk factor for autism relates to the occurrence of de novo point mutations that can now be discovered through next-generation sequencing (4). However, for virtually all of the pathological CNVs and point mutations causing autism, there is no definitive or curative therapy, although CNVs can be detected using invasive prenatal diagnosis. On page 394 of this issue, Novarino et al. (5) use exome sequencing in consanguineous families to discover an inborn metabolic error associated with autism, epilepsy, and intellectual disability, in which the clinical manifestations are likely to be treatable or, even better, preventable.