Featured Research

from universities, journals, and other organizations

Biomarker progress offers hope for early autism spectrum disorder detection

Date:
November 30, 2012
Source:
IOS Press
Summary:
Autism spectrum disorders (ASD) are neurodevelopmental disorders typically characterized by difficulties in social interactions and delayed or abnormal language development. Although ASD reportedly affects 1 in 88 people in the United States, to date there have been no distinctive biomarkers to diagnose the disease. Investigators now report on the current understanding of ASD genetics and the possibilities of translating genetic research toward biomarker development in ASD.

Autism spectrum disorders (ASD) are neurodevelopmental disorders typically characterized by difficulties in social interactions and delayed or abnormal language development. Although ASD reportedly affects 1 in 88 people in the United States, to date there have been no distinctive biomarkers to diagnose the disease. In a special themed issue of Disease Markers, investigators report on the current understanding of ASD genetics and the possibilities of translating genetic research toward biomarker development in ASD.

"Although some individuals with ASD are highly functional, many are severely impaired and require permanent care. The significant level of impairment combined with the fact that no specific therapy is yet available for ASD, make ASD a devastating illness for patients and families, and a heavy financial burden for the healthcare system," says guest editor, Irina Voineagu, MD, PhD, RIKEN Omics Science Center, Yokohama, Japan. "The most effective intervention for ASD has proven to be early behavioral therapy. Thus the identification of biological markers for ASD, allowing very early detection, even before the onset of symptoms, would be of tremendous value."

Five articles comprise this comprehensive issue, providing an overview of ASD genetic models, an exploration of several key emerging concepts in understanding ASD's molecular basis, and discussion of current biomarker development, focusing on genomic data.

Following an introduction by Voineagu, Yuri Bozzi and colleagues review the phenotype characteristics of currently available mouse models of ASD. Carmen Panaitof then discusses the role of the songbird as an experimental model system for investigating the genetic basis of human language and its ASD-related impairments. Michael Bowers and Genevieve Konopka further explore language deficits and provide new evidence for the role of the FOXP gene to regulate language. Alka Saxena, Dave Tang, and Piero Carninci focus on the functional roles of the gene MECP2, which is mutated in most cases of Rett syndrome, one of the ASDs.

A review rounding out the issue is "Subphenotype-Dependent Disease Markers for Diagnosis and Personalized Treatment of Autism Spectrum Disorders," by Valerie W. Hu, PhD, The George Washington University, School of Medicine and Health Sciences, Washington, DC, PhD, which discusses current progress toward identifying ASD biomarkers based on genome-wide data.

"Without genetic or molecular markers for screening, individuals with ASD are typically not diagnosed before the age of 2, with milder cases diagnosed much later," writes Dr. Hu. "Because early diagnosis is tantamount to early behavioral intervention, which has been shown to improve individual outcomes, an objective biomarker test that can diagnose at-risk children perinatally is a medical imperative."

Hu demonstrates the possibility and importance of developing ASD subtypes to help identify relevant disease markers, which can ultimately aid in developing specific targeted therapies.

Voineagu concludes, "It is exciting times for genetic research and although the phenotypic and genetic heterogeneity of ASD often seem to be a daunting conundrum, well-defined diagnostic criteria, larger cohort sizes for genetic studies and integrative approaches of genomic and epigenomic data already delineate a promising avenue for elucidating the mechanisms of ASD."


Story Source:

The above story is based on materials provided by IOS Press. Note: Materials may be edited for content and length.


Cite This Page:

IOS Press. "Biomarker progress offers hope for early autism spectrum disorder detection." ScienceDaily. ScienceDaily, 30 November 2012. <www.sciencedaily.com/releases/2012/11/121130110700.htm>.
IOS Press. (2012, November 30). Biomarker progress offers hope for early autism spectrum disorder detection. ScienceDaily. Retrieved April 19, 2014 from www.sciencedaily.com/releases/2012/11/121130110700.htm
IOS Press. "Biomarker progress offers hope for early autism spectrum disorder detection." ScienceDaily. www.sciencedaily.com/releases/2012/11/121130110700.htm (accessed April 19, 2014).

Share This



More Mind & Brain News

Saturday, April 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Study On Artists' Brain Shows They're 'Structurally Unique'

Study On Artists' Brain Shows They're 'Structurally Unique'

Newsy (Apr. 17, 2014) The brains of artists aren't really left-brain or right-brain, but rather have extra neural matter in visual and motor control areas. Video provided by Newsy
Powered by NewsLook.com
Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com
Are School Dress Codes Too Strict?

Are School Dress Codes Too Strict?

AP (Apr. 16, 2014) Pushing the limits on style and self-expression is a rite of passage for teens and even younger kids. How far should schools go with their dress codes? The courts have sided with schools in an era when school safety is paramount. (April 16) Video provided by AP
Powered by NewsLook.com
Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins