The symptoms of autism spectrum disorder affect each patient differently and are often difficult to identify, but new research suggests a cutting-edge method of genetic testing could pinpoint "genetically discrete" forms of the disorder.
Using chromosomal microarray analysis and whole-exome sequencing, researchers were able to test children with autism spectrum disorder (ASD) for elusive genetic mutations, the University of Missouri reported.
The patients were split up into two groups: those with "essential" autism; and those with "complex autism. The findings showed children with "complex autism" were diagnosed with a known mutation 37.4 percent of the time, while patients with "essential autism" were only diagnosed 4.2 percent of the time. Complex autism is defined by clinically assessing each child for "minor congenital anomalies" that may have been present in early fetal development. The findings offer a significant improvement over conventional genetic testing.
"Foremost, the data indicates that physicians responsible for diagnosing children with autism spectrum disorder should arrange genetic evaluations using techniques that have the best chance of determining a conclusive diagnosis," Miles said. "It is undeniable that precise diagnoses pave the way to better medical care, improved surveillance, better functional outcomes and informed genetic counseling." Miles said.
The researchers hope this new type of genetic testing will be useful to patients in the future, but worry insurance coverage complications and need for genetic experts could be potential roadblocks. In these cases,noninvasive, inexpensive dysmorphology examination could be used to determine which patients would most likely have identifiable genetic mutations.
"This recent work in ASD diagnosis shows just some of the remarkable strides made over the last decade," Miles said. "The latest research provides an ideal illustration of how broad, symptom-based diagnoses such as autism can and should be dissected into relevant subgroups and transformed into hundreds if not thousands of specific genetic diagnoses. By doing so, each diagnosis will then end up with its own clinical characteristics, potential medical risk factors, ways, rules for handling symptoms and heritability details, and eventually better treatment."
The findings were published in a recent edition of the Journal of the American Medical Association (JAMA).
