New tool to diagnose autism within minutes

Researchers are developing a new tool that will diagnose autism in young children within mere minutes instead of the hours that it currently takes.

Diagnosing autism is complex and subjective. Dennis Wall, associate professor of pathology and director of computational biology initiative, Harvard Medical School, is working on algorithms to detect autism rapidly and with high accuracy.


They are designed to work within a mobile architecture, combining a small set of questions and a short home video of the subject, to enable rapid online assessments, the journal Nature Translational Psychiatry reports.

This tool could reduce the time for autism diagnosis from hours to minutes and can be integrated with routine child screening practices to include more of the population at risk, according to a Harvard statement.

"We believe this approach will make it possible for more children to be accurately diagnosed during the early critical period when behavioural therapies are most effective," said Wall.

Autism is a developmental disorder that appears in the first three years of life, characterised by impaired social interaction and communication, and by restricted and repetitive behaviour.

Children suspected of autism typically take the Autism Diagnostic Interview-Revised, known as the ADI-R, a 93-question questionnaire, and/or the Autism Diagnostic Observation Schedule, known as the ADOS exam, which measures several behaviours.

Together these test can take up to three hours and must be administered by a trained clinician. Often, there is a delay of more than a year between initial warning signs and diagnosis because of the waiting times to see a clinical professional who can administer the tests and deliver the formal diagnosis, Wall said.

Autism linked to mutation in sperm?

Mutations in a parent`s sperm or egg cells may increase a child`s risk for autism, and fathers are more likely to pass these defects to their children than their mothers, researchers have claimed.


Three large-scale studies, published in journal Nature, have highlighted the importance of defects in the DNA of eggs and sperm to the development of autism, and one in seven cases of autism in families are caused this way.

One study by a team from the University of Washington showed sperm to be a much bigger culprit than eggs. For every four such genetic alterations, known as "de novo" mutations, traced back to sperm, there was just one that began life in an egg, it found.

For their study, the researchers analysed the DNA of children with autism and their parents in 209 families where the child was the only autistic person, as well as 50 unaffected siblings.

They found 248 "de novo" mutations, 60 of which they identified as the most likely to raise the risk of autism, the Daily Mail reported.

Pooling the results of the three studies revealed that three genes to be peppered by these de novo mutations.

The scientists said that it is likely that hundreds of genes are involved in autism and their study shows the picture to be even more complex than thought.

It is hoped that unravelling the genetics will speed up both the search for new treatments for the condition and the development of diagnostic tests.

Stephen Sanders, who led the project at Yale University, said: "With every new gene we discover, we learn more about potential treatments for patients with autism."

Autism, and related conditions like Asperger`s syndrome, affect more than one in 100 children in the UK alone. But with the causes unclear, current treatment consists of managing individual symptoms, such as hyperactivity.

The lead scientist on the third project, Mark Daly of Massachusetts General Hospital, said: "These results clearly demonstrate the potential of DNA sequencing technology to articulate specific risk factors for autism.

"We have only scratched the surface but, with continued collaborative efforts, these gene discoveries will point us towards the underlying biological roots of autism."

Kevin Mitchell, a Trinity College Dublin geneticist, said work such as this would allow the underlying cause of autism to be treated, rather than just the symptoms.

Premature babies more likely to have autism

Premature infants are five times more likely to have autism than children born at normal weight, according to new research.

The children, some born as small as about a pound, were followed for 21 years making this study.

The infants were born between September 1984 through July 1987 in Middlesex, Monmouth, and Ocean counties in New Jersey at birthweights from 500 to 2000 grams or a maximum of about 4.4 pounds.

“As survival of the smallest and most immature babies improves, impaired survivors represent an increasing public health challenge,” said lead author Jennifer Pinto-Martin, MPH, PhD, director of the Center for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) at Penn Nursing.

“Emerging studies suggest that low birthweight may be a risk factor for autism spectrum disorders.”

Links between low birthweight and a range of motor and cognitive problems have been well established for some time, but this is the first study that establishes that these children are also at increased risk for autism spectrum disorders (ASD).

“Cognitive problems in these children may mask underlying autism,” said Dr. Pinto-Martin.

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“If there is suspicion of autism or a positive screening test for ASD, parents should seek an evaluation for an ASD. Early intervention improves long-term outcome and can help these children both at school and at home,” she added.

The study has been published in journal Pediatrics.