Researchers in Canada have developed a pair of genetic tests designed to provide doctors and parents better understanding of the challenges that a child, diagnosed with autism, could potentially encounter for the rest of his or her life.
Dr. Bridget Fernandez and her colleagues at the Memorial University of Newfoundland first identified genes present in almost 16 percent of autism cases that could help explain the susceptibility of children to the condition.
When the research team made use of innovative tests to examine children with specific physical abnormalities, they saw the initial increase to around 38 percent.
Fernandez said the birth defects that they observed are an indication that the children had experienced problems in their development from the time they were still in their mother's wombs.
Based on the findings, the researchers and other experts believe that doctors should continue to encourage parents to have their children tested for autism, especially those who show physical signs of issues with their development.
Fernandez said that the new tests can help doctors provide better care to young patients with autism. The tests will allow them to have a basic understanding of the genetics behind the children's condition.
The genes of a child with autism, for example, could potentially predispose them to other health conditions such as diabetes or obesity.
Autism Speaks' vice president and chief of genomic discovery Mathew Pletcher said that another gene associated with autism can make children more susceptible to seizures.
Pletcher said that, with this knowledge, medical professionals can begin to plan for and treat these possible health problems.
Chromosomal Microarray Analysis and Whole-Exome Sequencing
In their research, Fernandez and her colleagues made use of two relatively new and comprehensive tests called chromosomal microarray analysis and whole-exome sequencing.
The first test, chromosomal microarray analysis, allowed the researchers to identify certain abnormalities in the chromosomes of an individual. This method is already used as part of initial genetic testing for people with symptoms of autism.
The second test, whole-exome sequencing, helped the team examine genes in the human body capable of encoding protein, allowing them to determine anomalies that could develop into diseases.
Fernandez explained that whole-exome sequencing is mainly applied in research settings.
One in 68 children in the United States is estimated to be on the autism spectrum, a term that pertains to a collection of complex brain development disorders.
The researchers examined the potential of the tests by using them to study 258 children suffering from autism spectrum disorder. The participants had an average age of 4.5 years.
When they carried out the tests separately, the researchers discovered that each test equally tracked the potential genetic triggers of autism. The whole-exome sequencing was over eight percent effective at identifying autism, while the chromosomal microarray analysis was around nine percent effective at pinpointing the condition.
When the two tests were combined, they were effective at identifying the condition around 16 percent of the time. This result more than doubled when the tests were used to assess children with symptoms of developmental problems. The researchers said that these subtle physical signs include differences in the palm's creases or even an ear that is oddly shaped.
The researchers expect that the tests will become more effective over time as more and more genes associated with autism are identified.
The findings of the Memorial University of Newfoundland study are featured in the Journal of the American Medical Association.