NEW JERSEY 101.5

New research published online in the American Journal of Psychiatry by scientists at Rutgers University and The Research Institute at Nationwide Children's Hospital in Ohio, reveals that there is a genetic link connecting family members with autism like Lorenzo Miodus-Santini to those like his brother, Christian, who have specific language impairment characterized by speech and language difficulties that can't be explained by cognitive or physical problems.

Autism
Flickr User Becky Wetherington
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The research project leader Linda Brzustowicz, a Rutgers professor and chair of the Department of Genetics in the School of Arts and Sciences, said that genes in a narrow region of two chromosomes (15q23-26 and 16p12) responsible for oral and written language impairments can result in similar behavioral characteristics with one family member developing autism, and the other having only language difficulties.

Specific language impairment is one of the most common learning disabilities, affecting an estimated seven percent of children. It is not considered to be an autism spectrum disorder. Autism effects one in 88 children nationally, with nearly five times as many boys than girls diagnosed, about half of whom have some degree of language impairment.

"In this group of families we are trying to find genetic factors that might connect them," said Brzustowicz, who collaborated on the study with Christopher W. Bartlett, principal investigator in the Battelle Center for Mathematical Medicine at Nationwide Children's Hospital. "This research is important because it is hard to understand autism until we find the genes that might be involved."

While scientists don't believe that there is one single gene that causes autism, but rather a number of genes that increase the risk, Brzustowicz and her team of researchers are working to identify genetic patterns in these families in order to help gain a better understanding of the mechanisms that lead to autism, a developmental brain disorder that appears in the first three years of life.

In the Rutgers autism study, 79 families, mostly from New Jersey and Pennsylvania, with one child with autism and at least one with specific language impairment underwent extensive in-home testing. Besides taking blood samples for genetic testing, family members including parents, children, and grandparents and in some cases even uncles, aunts and cousins underwent a battery of tests to assess grammar, vocabulary and language processing.

In addition to the language findings, researchers also found strong evidence of a genetic link in the areas of obsessive-compulsive, repetitive behaviors and social interaction skills, other symptoms associated with autism.

Brzustowicz said the next step will be to sequence the whole genome of those who participated in the study in order to compare the families to see if scientists can pinpoint any specific genes or mutations that are common to all.

"This is just the beginning," said Brzustowicz. "We are finding evidence of genetic similarities with the hopes of being able to identify targets that might respond to pharmacological treatments."

If you would like to participate in the research study or get more information, click here.

 

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