What Are The Limitations And Complexities Of Genetic Testing For Autism Spectrum Disorder
There are several complexities to genetic testing such as uncertain results. Not every genomic variation has been classified as either benign or pathogenic. This sort of result can neither confirm nor rule out a specific genetic etiology and can be frustrating for families and providers. Another complex result is an ASD risk variant with incomplete penetrance. This is one of the most difficult scenarios for genetic counseling3. In this circumstance it is difficult to determine the chance of familial recurrence. This genetic change may have been inherited from an affected, mildly affected or even unaffected parent.
Not all individuals will have an identifiable genetic diagnosis. While the genetic contribution to ASD has been well established, todays technology and knowledge will identify a genetic etiology in about 15-40% of individuals with ASD. Individuals and families who attend a genetic consultation with the expectation of receiving a diagnosis may feel disappointed.
Find the contact information for your local genetics centre here.
For community support and research opportunities for your patient and his/her family, see Autism Speaks Canada.
For a complete Reference and Resource list please see the GEC-KO Messenger.
A point of care tool can be found here.
For an excellent review on ASD diagnosis in the primary care setting, please see Anagnoustou and colleagues1.
How Does A Chromosomal Microarray Test Work
There are many different ways of analyzing an individuals genetic information. CMA is designed to detect small regions of abnormalities called copy number variants . A copy number variant is a change to the expected amount of DNA in a chromosome. In general, each person should have two copies of each chromosome in their cells one is inherited from each parent.
The Importance Of Early Detection For Better Autism Outcomes
As a parent, you may want to help your child in any way possible, but at the same time, youre scared of a potential diagnosis of a serious condition. Its important to understand that early intervention by medical professionals can have a very beneficial impact upon a child with autism. The sooner medical professionals are involved, the better.
Genetic testing offers a way for parents to understand one aspect of their childs potential risk for autism.
While Sequencing.com does not perform genetic testing thats specific for autism or ASD, our Ultimate Genome Sequencing service includes whole genome sequencing that will sequence the EN2 gene as well as all other genes that are known to be associated with autism and ASD. This is because whole genome sequencing obtains data on all 30,000 genes .
Genome sequencing data, however, can be quite technical to interpret so if you are interested in using this service to sequence genes associated with autism, you may need a genetic counselor or healthcare professional to help interpret the data.
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Autism Linked To Inherited Gene Mutations Particularly From Dad
Scientists use whole-exome sequencing to pinpoint autism genetic link.
Autism Linked to Fathers Age
April 4, 2012 Joslyn Gray, 38, of Drexel Hill, Pa., resisted her pediatricians recommendation that she have her 4-year-old son tested for autism. She didnt think he fit the classic description of autism.
He showed emotion. He showed affection toward her. That wouldnt be possible for someone with autism, Gray believed.
I didnt understand what autism was and the vast spectrum of the disorder, said Gray, who blogs for Babble.com, a Disney-owned online parenting magazine . I got him evaluated because I didnt want to be seen as a mom in denial.
Grays son was diagnosed with Aspergers syndrome a higher functioning form of autism at age 4. In hindsight, Gray said she could see how his symptoms progressed until his diagnosis, and his diagnosis prompted her to have her daughter tested too. Two years later, in January 2012, her daughter, now 10 years old, received the same diagnosis as her brother.
The latest statistics released by the U.S. Centers for Disease Control and Prevention estimate that autism spectrum disorder increased by 23 percent from 2006 to 2008 to include nearly one in 88 children.
Experts said the growing numbers reflect an all-encompassing disorder that just as often includes children who speak or dont speak, make eye or dont make eye contact, recognize their names or not.
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Reasons Autism Begins In Pregnancy
These days it is pretty hard to make sense of everything we see in the news and through social media. With so much contradictory information, inflamed personal views, misinterpretations, and assumptio
These days it is pretty hard to make sense of everything we see in the news and through social media. With so much contradictory information, inflamed personal views, misinterpretations, and assumptions about Autism and what causes, it can be easy to have our judgment clouded. Many of us are left wondering what the truth is and what isnt. While there are many beliefs and stigmas surrounding the definitive reasons that we are seeing an increase in Autism diagnosis, there has never been one single source identified as the culprit. According to experts in the field, there are many potential causes of Autism, but one thing that many of them have in common is a link between the disorder and pregnancy. Science is telling us in so many words, that Autism probably begins in the womb, in most cases.
The verdict is still out, about whether or not we can control, suppress, or even prevent the causes that are linked with Autism. The truth is, we just don´t know yet. But, if you are interested to know what medicine and science have unveiled about pregnancy and Autism, it is best to compile research from reputable sources like medical journals and scientific studies.
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Yes The Behavioral Diagnosis Is Strengthened By The Genetic Diagnosis When Combined They Form A More Effective Way To Treat Autism Especially Since There Are Many Possible Permutations Of The Condition
The diagnosis is simply a description of the condition that can be important for a number of reasons, but it does not answer the why that is the root cause of autism in that particular individual.
Genetic testing provides a new level of information that can be used to help more clearly define how to best monitor, treat and react to the various challenges of autism. Genetic testing provides a critical roadmap on how to treat someone going forward.
Find Other Parents Who Will Understand And Support You
It always has been invaluable to have other parents who are going through the same thing as you are, to call them up and say I cant believe this is happening to me today. Because to the rest of the community, the things that happen to us, theyre really not the norm.Ruth Singer Strunck, the mom of two young adults with autism
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Prioritize Independence And Communication
After baseline medical needs are met and you figure out how to deal with the everyday, I recommend that parents pay particular attention to the areas of communication, self-help and socially appropriate skills. A child who has a high academic ability, but poor communication skills, hygiene or a proclivity to hurt others will greatly limit their opportunities.
Nicole Sugrue, Port Washington, New York
Icipants And Study Design
This study was part of a larger study designed to examine views regarding genetic testing among parents of children with ASD in Taiwan . The research team retrieved a list of all public elementary schools with special education classes in Hsinchu City and County, Taoyuan County, and Miaoli County from the official website of the Department of Education in Taiwan. The research team then made phone calls to the special education teachers in these schools to obtain the exact number of children with ASD in their schools as well as to ask the teachers to help with the recruitment for this study. Parents of all the children with ASD enrolled in these schools were directly contacted by their special education teachers and invited to participate in this study. Subsequently, a package containing the survey and information sheet was distributed to all potential participants. To increase the sample size, the research team also expanded the recruitment to other areas, including Taipei City, New Taipei City, Taichung City, Tainan City, Kaohsiung City, Yilan County, Chiayi City, Chiayi County, and Yunlin County. A total of 236 schools participated in this study among the 862 surveys that were sent out, 451 surveys were returned yielding a response rate of 52.3%. The final sample size was 443 after removing incomplete and duplicated surveys. All research protocols were approved by the Institutional Review Board at Texas A& M University.
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How Can I Find Out If My Childs Case Is Genetic Can We Tell Which Side Of The Family The Autism Came From
Experts maintain that the cause of autism is largely genetic they attribute about 80% of the risk to inherited genes, leaving only 20% to environmental factors. This is a monumental finding for the causation and treatment for autism spectrum disorder , but much is left to be discovered.
Because no single gene causes autism , there are no genetic tests available to diagnose autism. Many different changes and mutations in a persons genes can lead to them developing autism. However, a genetic test can explain why your child developed ASD, as well as other information that could benefit your family.
If your child has been diagnosed with ASD, our therapists and behavior specialists at Therapeutic Pathways will help them develop and strengthen their social, emotional, and intellectual skills to improve their quality of life.
We are involved in the scientific community and follow the latest research involving genetics and the role they play in autism. Our approach at Therapeutic Pathways is to use evidence-based autism treatment that will help your child live a satisfying and well-rounded life.
Please call 422-3280 or contact us for more information.
Can You Do Genetic Testing For Autism
Scientists who focus on autism research are increasingly making discoveries to determine whether ASD is a genetic condition . This is leading to more investigations into the potential use of genetic testing for diagnosis.
Genetic testing can be offered to individuals who are suspected of being autistic but these tests dont test for specific autism genes, but rather test syndromic forms of autism such as abnormalities in the chromosomesthere are certain deletions or duplications that occur in the chromosomes found to be related to the expression of autism symptoms .
Current genetic testing for autism diagnosis includes chromosomal microarray analysis, G-banded karyotyping, and fragile X testing. According to DeThorne & Ceman, , postnatal testing is the most common form of genetic testing associated with autism spectrum disorders .
According to Chen, et al. , genetic testing has become a useful tool for people with a history of autism or those showing possible symptoms. Unfortunately, despite the fact, a genetic cause of autism is identified in less than 25% of individuals on the spectrum. Schaefer, G. B. & Mendelsohn indicates a success rate of 6-15% but this includes the range of autism spectrum disorders i.e. pervasive developmental disorder not otherwise specified , atypical autism, and asperger syndrome.
Genetic testing for autism offers potential benefits such as:
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In Favor Of Asd Genetic Testing
lists parents reasons for supporting ASD genetic testing, ranging from the highest to the lowest frequencies. Early intervention and treatment was the most frequently identified reason . For instance, a mother with one autistic and one normally developing child said she would like to learn about ASD genetic testing because this information would help her affected child to receive early intervention, resulting in a better outcome. In addition, 13 parents supported genetic testing because they would like to find the etiology of ASD. These parents perceived genetics as the contributing factor to ASD. For example, one mother with a high SES stated, I personally support genetic testing for autismespecially seeing the percentage go up makes me think thatsomebody is genetically susceptible. Another father with a low SES remarked, I think that its a good development. We are trying to figure out how DNA works to help us understand our bodiesI might know why I had kids with autism from it. I think it is useful.
What Are The Contributing Factors To Autism
Some deem it offensive to speak of high risk factors when it comes to autism. Many autistic adults express pride in who they are despite difficulties of living in a neurotypical world, they celebrate their unique talents and differently wired brains. These are mostly high functioning individuals who are successful, with fulfilling lives. Perhaps referring to factors that may contribute to an individual being diagnosed with autism, or factors raising probability are more appropriate terms to use.
So what raises the probability of having an autistic child? Despite years of research, a specific cause of autism has not been determined and there is much debate. Instead research suggests that a number of influences may elevate the chance that an individual may be on the spectrum. These influences include mostly genetic but also environmental factors.
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Genetic Testing And Autism Spectrum Disorder
If your child is diagnosed with ASD, the doctor might refer your child for genetic counseling and testing.Genetic testing looks for causes of ASD but cannot be used to diagnose ASD. Some people with ASD have syndromic ASD, meaning that they have other specific features in addition to having ASD, such as looking different from other people in the family or having birth defects. Most people with syndromic ASD have a genetic cause for their ASDexternal icon.
Genetic testing is more likely to find a genetic cause for ASD if
- Your child or another family member has syndromic ASD
- A family member has an ASD-related genetic change found through genetic testing or
- Multiple family members have ASD.
The most commonly ordered test for people with ASD is called a chromosomal microarray . This test looks at chromosomes to see if there are extra or missing parts that could cause ASD. CMA finds a genetic cause in 5% to 14% of people with ASDexternal icon who have the test.
In addition, children with ASD should be checked for genetic disorders that can cause ASD, including the following:
- Rett syndromeexternal icon: This disorder mainly affects females. About 4% of females with ASD have Rett syndromeexternal icon. Rett syndrome testingexternal icon should be considered for females with ASD.
Pathogenic Yield Of Genetic Testing In Autism Spectrum Disorder
POTENTIAL CONFLICT OF INTEREST: Dr Harris is a coinvestigator on a study funded by Clinical Research Associates, LLC, an affiliate of the Simons Foundation. Dr Harris is also a coinvestigator on a study funded by Ionis Pharmaceuticals the other authors have indicated they have no potential conflicts of interest to disclose.
FINANCIAL DISCLOSURES: Dr Harris is a coinvestigator on a study funded by Clinical Research Associates , LLC, an affiliate of the Simons Foundation. Dr Harris is also a coinvestigator on a study funded by Ionis Pharmaceuticals the other authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics
Holly K. Harris, Georgios D. Sideridis, William J. Barbaresi, Elizabeth Harstad Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder. Pediatrics October 2020 146 : e20193211. 10.1542/peds.2019-3211
Genetic testing is recommended for individuals with autism spectrum disorder . Pathogenic yield varies by clinician and/or patient characteristics. Our objectives were to determine the pathogenic yield of genetic testing, the variability in rate of pathogenic results based on subject characteristics, and the percentage of pathogenic findings resulting in further medical recommendations in toddlers with a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnosis of ASD.
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Why Is It Important To Know If You Have A Family Health History Of Autism Spectrum Disorder
Having a family health history of ASD makes you more likely to have a child with ASD, or to have ASD yourself. If you have a child with ASD, you are more likely to have another child with ASDexternal icon, especially if you have a daughter with ASD or more than one child with ASDexternal icon. Your other family members would also be more likely to have a child with ASD.
If you are pregnant or planning a pregnancy, tell your doctor if you or your partner have a family health history of ASD. This information can help your doctor determine how likely you are to have a child with ASD.
When collecting family health history information,
- Include your and your partners children, parents, sisters, brothers, grandparents, aunts, uncles, nieces, and nephews
- Include anyone with a diagnosis of ASDexternal icon, learning disorder, intellectual disability, schizophreniaexternal icon, epilepsy/seizures, personality disorderexternal icon, or attention-deficit/hyperactivity disorder
- Note if anyone had genetic testing and the results of that testing
- Include anyone with a genetic disorder that can cause ASD, such as fragile X syndrome or Rett syndromeexternal icon
- Be sure to include anyone who received a diagnosis that is no longer used, such as Asperger syndrome or mental retardation and
- Consider including older family members who have or had signs of ASD, even if they were not diagnosed with ASD, as ASD diagnoses were less common in the past and might have been missed.