Scientists identify potential biomarker to help diagnose autism

April 27, 2012 By Elizabeth Sharpe

(Medical Xpress) -- Autism is difficult to diagnose because of a lack of specific biological markers and a variability of symptoms, ranging from mild in some individuals to severely disabling in others.

Now a team of University of Washington  and Battelle scientists have identified metabolites in urine that could potentially predict young children at risk of developing autism.

The varying degrees and manifestations of this developmental brain condition are collectively called autistic spectrum disorder.  ASD is characterized by impaired social interactions, difficulty in communicating, and repetitive behaviors. Many other symptoms also can be present, including anxiety, depression, learning disabilities, sleep disorders, and gastrointestinal problems.

Currently, diagnosing a child with ASD requires a thorough evaluation by a team of health professionals from a wide range of specialties. Early intervention often can reduce or prevent the more severe symptoms and disabilities associated with ASD.

Autism specialists and many other people look forward to a day when a test for a  biological marker might detect autism risk in young children. To this end, Seattle researchers evaluated porphyrins in the urine of children to determine if the levels of these metabolites could predict ASD.

The research team included James Woods, professor of environmental and occupational health sciences at the UW School of Public Health, and Nicholas Heyer and Diana Echeverria, senior scientists at Battelle Centers for Public Health Research and Evaluation

While porphyrins are found in everyone’s urine, the research team observed that certain kinds of these metabolic byproducts are much higher in  the urine of some children with autism, compared with typically developing, non-autisitic children of the same age.

Additionally, when children with autism were randomly compared with typically developing children or children with other developmental disorders, the porphyrin biomarkers correctly identified more than thirty percent of autistic children without incorrectly identifying a single non-autistic child.

The ability to detect porphyrins in a urine sample opens new clinical possibilities. Simple tests, if they prove effective, could become a rapid, low-cost, widely available  way to screen for this type of autism risk.

“The significance of this is not only that it may facilitate earlier detection of autism risk," said Woods, "but also that it might help identify those ASD children whose symptoms are specifically associated with altered porphyrin metabolism."

He added, "When validated in a larger study, this biomarker could help to identify a specific subset of ASD kids and improve the search for more focused treatment options for these ."

The findings were published in this month’s edition of Autism Research to coincide with Awareness Month. The paper can be found online.

Explore further: Study explores autism co-occurring conditions and diagnosis change

Related Stories

Study explores autism co-occurring conditions and diagnosis change

January 24, 2012
(Medical Xpress) -- In a new Pediatrics article, researchers at the Johns Hopkins Bloomberg School of Public Health examined the relationship between the co-occurring conditions in children with Autism Spectrum Disorders ...

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 ...

Low birthweight infants have five times rate of autism

October 17, 2011
Autism researchers at the University of Pennsylvania School of Nursing have found a link between low birthweight and children diagnosed with autism, reporting premature infants are five times more likely to have autism than ...

ADHD symptoms worsen quality of life for individuals with autism

September 19, 2011
Research supported by the Autism Speaks Autism Treatment Network (ATN), demonstrating that symptoms of attention deficit and hyperactivity worsen quality of life for individuals with autism spectrum disorders (ASD), was presented ...

Recommended for you

Signaling pathway may be key to why autism is more common in boys

October 17, 2017
Researchers aiming to understand why autism spectrum disorders (ASD) are more common in boys have discovered differences in a brain signaling pathway involved in reward learning and motivation that make male mice more vulnerable ...

Whole genome sequencing identifies new genetic signature for autism

October 12, 2017
Autism has genetic roots, but most cases can't be explained by current genetic tests.

Mum's immune response could trigger social deficits for kids with autism

October 10, 2017
The retrospective cohort study of 220 Australian children, conducted between 2011-2014, indicates that a "an immune-mediated subtype" of autism driven by the body's inflammatory and immunological systems may be pivotal, according ...

Largest study to date reveals gender-specific risk of autism occurrence among siblings

September 25, 2017
Having one child with autism is a well-known risk factor for having another one with the same disorder, but whether and how a sibling's gender influences this risk has remained largely unknown.

Faulty cell signaling derails cerebral cortex development, could it lead to autism?

September 20, 2017
As the embryonic brain develops, an incredibly complex cascade of cellular events occur, starting with progenitors - the originating cells that generate neurons and spur proper cortex development. If this cascade malfunctions ...

Predicting atypical development in infants at high risk for autism?

September 12, 2017
New research from the Sackler Institute for Developmental Psychobiology at Columbia University Medical Center (CUMC) identifies a potential biomarker that predicts atypical development in 1- to 2-month-old infants at high ...

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.