Autism Spectrum Disorder (ASD) represents a diverse group of neurodevelopmental conditions. If researchers can better understand the genetics of ASD, it may be possible to identify and diagnose at-risk children sooner. A new study looked at the results of two newer genetic testing technologies, chromosomal microarray and whole-exome sequencing, in children diagnosed with ASD.
Researchers from Newfoundland, Canada studied more than 250 children diagnosed with ASD. All participants underwent the chromosomal microarray analysis, however, only 95 randomly selected participants had whole-exome sequencing. Results found that sixteen percent of the children had an ASD related genetic finding on either microarray or whole-exome sequencing.
In addition to the new tests, researchers also closely examined the children for subtle physical differences and screened them for birth defects. Based on these exams, they were put into three groups of increasing physical severity: essential, equivocal, and complex. Researchers found that thirty-five percent of children in the complex group had a positive genetic test. In that group, the diagnosis of autism was more delayed than in the children of the other groups.
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