Possible New Genetic Signature Found for Some Types of Autism

in #health7 years ago
Lead researcher Evan Eichler from the University of Washington said: “We are excited by these early findings because they suggest that multiple new mutations in a child, both coding and non-coding, are important to understand the genetics of the disease”. Although some forms of autism appear to run in families, most cases occur in families with no history of the disorder.This form of autism, called simplex autism, is thought to occur from new mutations that first appear when the parents' sperm or eggs form.

I have read a bit about autism, although I am far from an expert, and this is an interesting finding (assuming it can be replicated). Typically you see autism classified by the degree of impairment or abnormality, not by how it occurred. Changing how researchers classify autism might help better treat the severe impairments caused by some forms of it although it isn't without downsides.

For example, if one were able to detect autism in utero, would parents abort the child? Leaving aside an individual's perspective on the morality of abortion, will it be beneficial or harmful to eliminate most forms of autism? We have seen that the eugenic impulse runs high in parents - e.g., most down syndrome children are aborted prior to birth. If one could detect and then abort High Functioning Autism or Asperger's, what would the cost be in future discoveries and evolution for humanity? 

While I think it is important to applaud the advances in medical sciences, I am always a bit cautious when these sorts of articles come up because society has a tendency of pathologize some personalities or behaviors that are out of the norm but not necessarily always harmful (e.g., Asperger's, melancholy, etc...). Any sort of neurodiversity is treated as a new disease to be treated or eliminated. The loss of diversity in perspective and outlook is just as harmful for the human race as the loss of ethnic or cultural diversity because it is those who have a different outlook that often push us in new directions.


References

http://www.tribuneindia.com/news/health/autism-often-linked-to-multiple-new-mutations/482217.html



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