Autism Spectrum Disorder ( Asd )

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Autism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders that is characterized by abnormalities relating to social, behavioral, cognitive and language skills. The genetic architecture of ASD is comprised of a variety of rare mutations. These mutations include monogenic conditions involving autistic symptoms. Furthermore, single nucleotide variants and de novo copy number variants add to disease susceptibility.
Inherited Factors Related to ASDs

Autosomal recessive loci are assisting scientists in understanding the inherited factors related to autism. Scientists are hopeful that the discovery of these mutations will offer them an opportunity to detect neurodevelopmental mechanisms in disease; thus, providing researchers with some amount of convergence that may be responsive to treatment intervention.
Genetic Research Sheds Light on Factors Contributing to the Development of an ASD

Research indicates that there could be almost 1000 genes contributing to an individual’s predisposition of developing an autism spectrum disorder. Although the genetic revolution enables scientists to identify a patient’s genetic etiology, the treatments available for ASD have remained the same. For instance, the US Food and Drug Administration has approved aripiprazole and risperidone for the treatment of irritability in people who have an autism spectrum disorder; however, there are currently no drugs available to treat the two core characteristics of autism.

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