Study finds that together, a large number of inherited, common genetic variations “of very small effect” can increase risk for autism. Suggests risk of inherited ASD is approximately 40% in simplex families and 60% in multiplex families.
Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case–control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles).
Dr. Eric Courchesne recently published his work he previewed at this year's IMFAR in the "Journal of the American Academy of Child & Adolescent Psychiatry."
The mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral blood–based, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism.
Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.
Emory University researchers identify mutations in an autism susceptibility gene that may explain why autism spectrum disorders affect four times as many boys as girls.
