The average age for autism diagnosis is 4 years, but what if we could diagnose it sooner? IntegraGen, Inc. has announced the ARISk assessment test, which looks at gender-specific genetic markers to assess the risk of autism in children. The 65 genetic markers are associated with autism.

Other recent studies have found that there could be anywhere from 600 to 1200 genes responsible for causing autism. (link to SN article). The IntegraGen test is meant to assess the risk of autism in children from multiplex families, meaning siblings of children with an autism spectrum disorder would be tested, between 6 and 30 months of age.

Early intervention has proven to help with IQ scores and language and social skills, so diagnosing autism as late as 4 years of age might reduce the impact of intervention. The M-CHAT test for autism is only available for use after 16 months of age, so IntegraGen set out to find a reliable tool for autism assessment. Scientists, parents, and therapists realize that early intervention is the best option for helping children realize their full potential.

The turn to genetics as a source of research has helped the autism community, and more research is pointing to specific genes as a cause of autism. Of the 65 genetic markers that the ARISk examines, eight are specific to both males and females, 29 for males only, and 28 for females only. As autism often runs in families, the risk for a child with an older sibling with autism is greater.

Autism has been linked to copy number variants (CNVs), which are examined at the chromosome level. However, only about ten percent of cases of autism can be linked to CNVs. The common genetic variants known as SNPs have been shown to be related to the presence of autism, but individual SNPs do not cause autism. The IntegreGen ARISk test looks for these SNP genetic markers to assess the potential risk or likelihood that a child will develop autism.

The ARISk test is available only through licensed medical professionals. Through the DNA tests, children will be assessed as having a high or low risk (or even a decreased risk) of developing autism. Even if the child has no risk of autism from the ARISk, the child should be tested with the M-CHAT if signs of autism are observed.

Photo by micahb37

April 10, 2012