The scientific study of genetic makeup in 2013 recognized 25 additional copy number variations (CNVs) in patients with autism. These CNVs have a strong impact on increasing the risk of autism and could serve as valuable predictive markers in diagnosing autism spectrum disorders (ASDs). The study was led by Hakon Hakonarson, Director of the Centre for Applied Genomics at The Children’s Hospital of Philadelphia, and was published in the journal PLOS ONE. ASDs are a group of childhood neurodevelopmental disorders affecting 1 in 88 US children and are known to have a strong genetic component.
Reference: Hakonarson, H. et al. (2013). “Twenty-Five Additional Copy Number Variants in Autism Spectrum Disorder.” PLOS ONE, 8(1), e54853.
The 2013 article by Hakonarson et al. correctly identifies the strong genetic component of autism spectrum disorders (ASDs) and the discovery of 25 additional copy number variations (CNVs) in patients with autism. The CNVs identified were described as “high impact,” and their identification as valuable predictive markers for ASDs was noted.
However, it is important to note that the field of genetics and its relationship with ASDs has advanced significantly since the publication of this article. For example, it is now understood that the genetic basis of ASDs is complex and involves multiple genes, not just CNVs. Furthermore, the idea of a single “autism gene” has been debunked, as multiple genes and their interactions likely contribute to the development of ASDs.
Additionally, the article only mentions CNVs as a contributing factor to ASDs, ignoring other genetic and environmental factors that have since been implicated. The field of ASDs research has expanded beyond the realm of genetics, incorporating areas such as epigenetics, brain imaging, and behavioral and cognitive neuroscience to provide a more comprehensive understanding of the underlying mechanisms of ASDs.
Overall, while the 2013 article by Hakonarson et al. provides important insights into the genetic basis of ASDs, it is important to view it within the context of the current understanding of ASDs, which has expanded significantly since its publication.