Biomarker progress offers hope for early autism spectrum disorder detection

November 30, 2012

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 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 , an exploration of several key emerging concepts in understanding ASD's molecular basis, and discussion of current biomarker development, focusing on .

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 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 , 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 ," 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."

Explore further: 18 novel subtype-dependent genetic variants for autism spectrum disorders revealed

More information: "Autism: From Genetics to Biomarkers." Irina Voineagu. Disease Markers, Volume 33, Issue 5 (November 2012).

Related Stories

18 novel subtype-dependent genetic variants for autism spectrum disorders revealed

April 27, 2011
By dividing individuals with autism spectrum disorders (ASD) into four subtypes according to similarity of symptoms and reanalyzing existing genome-wide genetic data on these individuals vs. controls, researchers at the George ...

At 6 months, development of children with autism like those without

October 30, 2012
The development of children with Autism Spectrum Disorder (ASD) is much like that of children without ASD at 6 months of age, but differs afterwards. That's the main finding of the largest prospective, longitudinal study ...

Eye-tracking reveals variability in successful social strategies for children with autism

February 27, 2012
In a study published in the March 2012 issue of the Journal of the American Academy of Child and Adolescent Psychiatry, Katherine Rice and colleagues, from the Marcus Autism Center, Children's Healthcare of Atlanta, and Emory ...

Study explains functional links between autism and genes

June 21, 2012
A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 ...

Genetic test developed for those at-risk for Autism Spectrum Disorder: Accuracy to be studied

September 12, 2012
(Medical Xpress)—A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD.

Recommended for you

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Females with autism show greater difficulty with day-to-day tasks than male counterparts

July 14, 2017
Women and girls with autism may face greater challenges with real world planning, organization and other daily living skills, according to a study published in the journal Autism Research.

Researchers investigate possible link between carnitine deficiency and autism

July 13, 2017
Researchers are always looking for new clues to the causes of autism, with special emphasis on prevention or treatment. At Baylor College of Medicine, Dr. Arthur Beaudet has been following clinical and genetic clues in patients ...

How children look at mom's face is influenced by genetic factors and altered in autism

July 12, 2017
New research has uncovered compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at people's eyes and faces or at objects.

Oxytocin improves social abilities in some kids with autism, study finds

July 10, 2017
Children with autism showed improved social behavior when treated with oxytocin, a hormone linked to social abilities, according to a new study by researchers at the Stanford University School of Medicine. Children with low ...

Possible early diagnosis of autism spectrum disorder

June 29, 2017
Measuring a set of proteins in the blood may enable earlier diagnosis of autism spectrum disorder (ASD), according to a study from the Peter O'Donnell Jr. Brain Institute at UT Southwestern Medical Center.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.