Different Kinds of Autism

Evan Eichler, a genome professor from the University of Washington does a study and predicts there a several kinds of autism. Eichler does a test between two boys Geoffrey Ondrich and Waylon Cude that are the same age and both have autism. Both boys are attached to their computer and that is the only thing that is similar between the two. Waylon likes to play video games and is more serious than Geoffrey. Geoffrey on the other hand like to go on the computer and listen to music or watches shows or movies. When Waylon is being tested, he is asked to do a serious of motor tests. When he gets something wrong Waylon automatically gets angry at himself and makes a pouting face. When asked questions, Waylon is polite but is only engaged in the conversations that are factual, anything else he says quiet. Geoffrey on the other hand before testing was able to use his iPad and found his favorite song and he starts bopping and dancing in his chair and when the music is off he sits in his chair rocking back and forth and slapping his right hand on his left wrist. With these results, researchers say autism is a heterogenous disorder. They looked at disorders that are similar to autism which is Rett syndrome and Fragile X syndrome.

"Beginning in the mid-2000s, microarray technology revealed that people with autism tend to carry many copy number variations, deletions or duplications of large stretches of DNA that encompass multiple genes. Researchers soon saw that people who harbor the same copy number variants often share other characteristics and symptoms as well"(Eichler). As a results, it is proven that no autism patient is the same, and all have their unique characteristics.

I think it is good that as a society we are growing to treat people with disorders and individuals and appreciate their uniqueness. Im sure that back in the day anyone with a disorder was treated and looked at the same. Their treatments were probably not as effective as they are now since everyone was treated the same and not to each individual needs.

Link:http://www.wired.com/2014/11/autism-genetics/

Gene Mutations Passed Down From Older Fathers

An article posted in Health Day magazine explains how it may be possible that older fathers can pass down mutations that cause lower intellect. It is common knowledge that an older maternal age increases the chances of Down Syndrome and other birth defects, but what about paternal age? Research is showing that an older paternal age can result in copy number variations. This study focused on children with an IQ less than 70. The research showed that 70% of the mutations that cause low IQ were passed down through the father. In almost all of the cases these father were approximately two years older than fathers that produced unaffected offspring. Another study shows that out of 118 children, 90 of them had intellectual disabilities that were caused my mutations that were passed down from the father. Higher paternal age was associated with almost all if the intellectual disabled children. The children with intellectual disabilities were found to have copy number variations, and in most cases the children were missing sequences of DNA. The study is still too new to make any definite conclusions but it does seem that a high paternal age leads to a higher risk of having offspring with intellectual disabilities.

Short genes?

In recent studies conducted by researchers at the University Children's Hospital of Boston, 12,000 children were surveyed and the test concluded that there is a correlation between a person's height and the number of deletions on certain chromosomes in the human genome. Up until today's genetic research, geneticists are only aware of approximately ten percent of the genetic makeup responsible for determining a person's height later in development. Recently, researchers have spent more and more time trying to find a link between a person's height and their genetic makeup. After careful research such as the studies completed at the University Children's Hospital of Boston, genetic abnormalities, coined copy number variants, are responsible for too little or too much DNA on certain chromosomes in the body. In shorter people, it was found that there was too little or even missing copies of height-determining DNA that could definitely contribute to the patient's height. For example, in his article Collins states, "While everyone has at least some of these deletions in their genome, covering thousands of individual components of DNA, others have several million."

Although this is a remarkable and reasonable accusation between a person's lack of DNA and thus shorter stature, the conductor of the research at the University Children's Hospital of Boston, Dr. Joel Hirschhorn, stated, "it showed a small but firm link between the amount of genetic material missing and a decrease in height." Therefore, no definite link has been established, but it is definitely an interesting step in the direction towards explaining a person's height.