New Genes Linked to Autism
Rachel Szczepinski
Introduction
Autism is one of the most mysterious disorders today because the exact cause is still unknown. There are many theories that surround the cause of Autism but, there has been new research that indicates that certain genes may be the cause of this complex disorder. To date, they have discovered 65 genes that contribute to Autism with 28 being more likely to directly lead to the development of Autism, (Brooks, 2015). In the video, they discuss the various causes of Autism including genetic mutations.
What Causes Autism?
Why is this important?
Today, most people know someone who has been diagnosed with some form of Autism whether it is a mild or severe case. This new development is important because it brings us one step closer to truly understanding what causes Autism. It is thought that 60% of the risk for Autism is genetic, (Brooks, 2015), so the narrowing down of the exact genes can help pinpoint what can be done to treat and possibly cure Autism.
What does this mean for the future of medicine?
These advances can help us build on previous knowledge and help us better understand what causes Autism. It is believed that it stems from a defect in the genes that control neural synapses and a problem with the genes that are involved with the makeup of serotonin, (Hadley, 2014). New research has also found that Autism is diagnosed three to four times more in boys than girls, (Brooks, 2015). According to the article, New Autism Genes Discovered, "The analysis find that the same genetic risk factors lead to ASD in both boys and girls, although girls with ASD have a much greater number of dnCNV. This suggests that girls are protected from ASD, unless their mutation burden reaches tipping point." This means that though both girls and boys may have the risk factors for Autism, boys are more likely to present the symptoms. These are just a few of the genes that they believe to be involved in Autism but with these new discoveries, doctors and other medical staff can gain more knowledge about the disorder as whole. Recognizing Autism early and proper education of parents can help children who are diagnosed acquire the best treatment.
What does it mean for nurses?
As a nurse, it is important to know what it means when someone is diagnosed with ASD; "Autism spectrum disorders (ASDs) are characterized by impaired socialization, reduced communication, and restricted, repetitive, or stereotyped activities and interests," (Hardley, 2014). This mean that your patient may be fully aware of what you are saying, but has a difficulty relaying their understanding to you. It is vital that as a nurse you have patience when communicating and you treat these patients as you would any other by giving them the greatest possible care. These new developments can help us as nurses understand our patients and their needs better as well as deliver the most effective care. This new knowledge can also help you better individualize your care to each patients needs.
In Conclusion...
Autism remains a mystery in its entirety but, everyday new discoveries, including gene involvement, shed light on the disorder. We have learned so much about how certain genes involving synapses and gender can increase the likelihood that a child will have Autism. We also know that it hasn't been linked to just one gene rather upwards of 65 that can cause ASD and with this information medical professionals can help patients pinpoint which plan of care would be best suited for their individual case. It is important to recognize that a cohesive care strategy from not only the doctors but from nurses, parents and teachers can help the child receive the most holistic and beneficial care. Overall, there is no cure for Autism yet, but there is hope that one day we may know exactly why it occurs.
Citations
Megan Brooks. (2015, July 22). Medscape log in. Retrieved November 27, 2015, from http://www.medscape.com/viewarticle/828641
(, 2015)
Dexter Hadley MD, Karl S Roth, & Hakon Hakonarson. (2015, June 20). Genetics of autism spectrum disorders: Background, genetic Etiology, clinical implications of genetic changes. Retrieved November 27, 2015, from http://emedicine.medscape.com/article/2024885-overview#a1
(, 2015)
Megan Brooks. (2015, October 6). Medscape log in. Retrieved November 27, 2015, from http://www.medscape.com/viewarticle/852193
(, 2015)