TEST FOR AUTISM SPECTRUM DISORDER FULL
TEST FOR AUTISM SPECTRUM DISORDER SERIES

She also serves as the associate director of Geisinger Health System’s Autism and Developmental Medicine Institute in Lewisburg, Pennsylvania.Some children show signs of autism spectrum disorder in early infancy, such as reduced eye contact, lack of response to their name or indifference to caregivers. Authorīrenda Finucane is the genetics consultant for NFXF and a member of its Scientific and Clinical Advisory Committee. When associated with FXS, autism is caused by the genetic change or mutation in the Fragile X gene-the most common genetic cause of autism. Misleading articles and marketing practices about promising genetic technologies only serve to add to this confusion for families who must navigate both sides of this complicated divide. Among families and professionals, in schools and therapeutic settings, there is already a great deal of confusion about the relationship between genetic test results and developmental diagnoses, such as ASD. In addition, parents of a young child found to have genetic risk factors for ASD might falsely assume their child already has autism, even if the child hasn’t been formally evaluated to see whether or not this is true. An autism diagnosis may open doors for receiving certain school and therapeutic services, and there is potential for misunderstanding and misuse of a “positive” genetic result marketed as a so-called autism blood test. From a marketing standpoint, “a-test-to-screen-for-genetic-risk-factors-that-might-cause-ASD” does not roll as nicely off the tongue as “an-autism-blood-test,” but there are important reasons to be both precise and cautious when it comes to diagnosing autism.

In the absence of a behavioral and developmental evaluation, a positive genetic test result can, at most, identify children at risk for having ASD. This is true as well for hundreds of other genetic disorders that cause ASD: they have an impact on how the brain functions, but the effects can vary widely from one person to the next, even within the same family.

TEST FOR AUTISM SPECTRUM DISORDER FULL

For a newborn boy with an FMR1 full mutation, for example, it’s impossible to predict the exact combination of Fragile X symptoms and abilities he will show as he ages. However, a positive genetic test result alone cannot predict whether a child’s symptoms meet criteria for ASD or any other behavioral disorder. Many families of individuals with Fragile X syndrome can relate to the value of knowing their genetic diagnosis.

Because ASD is a behaviorally-defined condition, it cannot be diagnosed using a genetic blood test, an MRI scan of the brain, an electroencephalogram (EEG), or any other non-behavioral method.Ī genetic diagnosis in a child with behaviorally-confirmed ASD can reveal the underlying cause, and this information can provide important insights for prognosis, treatment, and family implications. These specialists collect information from parents and teachers about a child’s milestones, skills, and behavior they also observe the child and may use standardized tests to evaluate language, learning, and social interaction. The diagnosis of ASD is typically made by psychologists, developmental pediatricians, psychiatrists, and neurologists, ideally with specialized training and experience in diagnosing ASD. There are established criteria for making an ASD diagnosis, as well as standardized measures to aid specialists in assessing whether or not a child meets those criteria. By definition, ASD is diagnosed based on the presence or absence of specific behavioral and developmental features. While great advances have been made in our ability to identify underlying genetic causes of autism, including Fragile X syndrome, the notion that autism itself can be directly diagnosed through a blood test is incorrect and misleading.Īutism spectrum disorder (ASD), as it is formally called, is a childhood-onset condition characterized by observed differences in development, social interaction, and communication. In addition to this latest testing approach, other laboratories have marketed genetic “autism testing” panels in recent years, implying, in all but the fine print, that these tests aid in the diagnosis of autism. NFXF-Led Patient-Focused Drug Development MeetingĪ press release about a laboratory’s patent for a new method of “diagnosing autism” recently gained national attention in the disability world.NFXF-Led PFDD Meeting for Fragile X Syndrome Patient-focused drug development.International Fragile X Premutation Registry.Research Readiness Program Research facilitation for researchers.Participate in Research MyFXResearch Portal.International Fragile X Premutation Registry Enroll now.

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TEST FOR AUTISM SPECTRUM DISORDER SERIES

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