New Study Claims Genetic Tests Can Accurately Diagnose Autism

Susanne.Posel-Headline.News.Official- autism.asd.genetic.test_occupycorporatism Susanne Posel ,Chief Editor Occupy Corporatism | Co-Founder, Legacy Bio-Naturals
September 1, 2015


Investigators with the Hospital for Sick Children (HSC) in Toronto, Canada, have published a study proposing that 2 genetic tests could assist doctors and parents in diagnosing autism in young children.

The inexact science behind diagnosis has plagued the industry; however this new report pushes for the genetic identification of autism spectrum disorder (ASD).

The team at HSC preformed experimental genetic tests on 258 children who had previously been diagnosed with some form of ASD to see if their tests could accurately diagnose the participants.

Using the chromosomal microarray analysis (CMA) and the whole-exome sequencing (WES) tests, the researchers accessed correctly that 16% of the children had ASD.

In participants with “certain physical anomalies” linked to autism, the molecular diagnosis was 37%.

Stephen Scherer, director of the Center for Applied Genomics at the HSC and co-author on the study explained that although the statistic might “sound low there is a significant range in the level of impairment associated with autism, and likely many factors that contribute to its development, both genetic and otherwise.”

Judith Miles, researcher at the Thompson Center for Autism and Neurodevelopmental Disorders in the Department of Child Health with the University of Missouri Health Care, wrote in an editorial about the study: “The new findings show that doctors who treat children with autism should help arrange for testing that may help provide additional information about whether genetic factors are at play.”

Miles continued: “It is incontrovertible that precise diagnoses pave the way to better medical care, improved surveillance, better functional outcomes and informed genetic counseling. Children with ASD are often grouped together and the opportunity to provide patient-specific care is missed.”

The reason this study is being hailed as a holy grail for ASD is because last month the US Preventative Services Task Force (PSTF) announced that more evidence is needed to support universal screening for autism in infants and toddlers who do not display developmental issues.

Children ages 18 to 30 months that are not showing signs of autism spectrum disorder (ASD) are being tested for the disorder as a pre-emptive measure.

The American Academy of Pediatrics (AAP) recommends universal screening for autism in children ages 18 to 24 months.

However the PSTF wants “to make sure this recommendation” is reserved for “children who are exhibiting signs and symptoms” and only those children should be tested for ASD.

Two years ago the PSTF discovered that there are “research gaps regarding the benefits and harms of screening all children for autism.”

For example, the PSTF is unclear as to the outcomes of children who are diagnosed with ASD who do not have symptoms or signs of the disorder.

When it comes to diagnosis, most ASD have been combined and renamed social communication disorder (SCD).

SCDs are “ defined as ‘the synergistic emergence of social interaction, social cognition, pragmatics (verbal and nonverbal), and receptive and expressive language processing’.”

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