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The Whys of Autism: Parents See Mostly Benefits to Learning Their Child’s Autism is Genetic
Marina Sarris
Date Published: July 2, 2024
What’s it like to learn that your child’s autism is the result of a tiny variation in a gene? Do you feel relief, worry, hope, sadness?
Parents of autistic children in the SPARK autism study reported a mix of emotions, with most seeing more pros than cons to learning about a genetic condition. That’s according to two new research papers that expand our understanding of the effects of genetic testing for autism.
SPARK has tested the DNA of more than 150,000 autistic people and their family members. It has found variations in either genes or parts of chromosomes that caused autism in 2,200 children and adults. The children’s parents and the autistic adults decide whether they want to learn these results, and the majority do.
For the recent publications, researchers from Columbia University and SPARK focused on parents of autistic children and guardians of dependent adults.
Interest in genetic testing is growing for many conditions, not just autism, explains one of those researchers, Robert Klitzman, M.D., a psychiatrist, bioethicist, and professor at Columbia University. “It’s important to understand the impact testing has on people so parents and others can make informed decisions about whether they want to undergo genetic testing,” says Klitzman, the author of papers and books about genetic testing and ethics.
“Genetic testing for autism presents a complex picture,” he says.
For this study, researchers surveyed 148 parents who learned that a genetic condition caused their child’s autism, along with almost 700 parents who found out their autistic children did not have a known genetic condition.1 Klitzman’s team also interviewed 28 of the parents whose children received a genetic diagnosis.2
The study only involved children who did not inherit their genetic condition from their parents. They had a variation to one of the more than 200 genes and parts of chromosomes known to cause autism. Most variations are new, or de novo, meaning they arose by chance in the child before birth.
A Genetic Diagnosis and Parents’ Feelings of Guilt
For some parents, the genetic diagnosis relieved them of a nagging feeling of self-blame or guilt. No matter how unwarranted, some parents believed that something they did before or after their child was born contributed to the autism.1,2
“Psychologically, people have a desire to find a cause and to blame something. I think it’s the fact that we don’t understand much about the brain and autism. That leaves room for people to blame themselves,” Klitzman says.
A month after learning of their child’s genetic condition, the parents were less likely to say that their lifestyle, age, pregnancy and birth complications, and vaccines triggered their child’s autism.1 “They are much less likely to say things like, ‘Maybe it was that glass of wine that I had before I knew I was pregnant, or the vaccines that caused my child’s autism,'” recalls Klitzman. Research has not found any link between vaccines and autism.
These parents were more likely to say that a chance event caused their child’s autism. That is also how genetic counselors and doctors often explain non-inherited genetic conditions.1
One mother of an autistic girl said, “The relief was knowing that there was a cause other than me for some of her characteristics.”2
Besides reducing self-blame, getting the genetic diagnosis had other benefits. For some parents, it put an end to long medical journeys and validated their concerns about their child, Klitzman explains.
One mother said she was glad to have answers to complicated questions, and conflicting answers about her child. “The fact that there’s a tangible syndrome is helpful after years and years of nothing. Half of those years were, ‘No, this is not autism. This is cognitive developmental delay’, which is really worse because you do not know why,” she said.2
A Genetic Diagnosis Makes a Child’s Needs Clearer to Others
Another benefit of having a genetic test result, families said, is that they can share the information with people who doubted or misunderstood their child’s challenges and needs.
One family told their child’s school about his genetic condition because teachers there did not think the child had a “real” disability. “I think it will change their focus for him and help guide him in a way that adjusts to this [condition] some more,” a father told researchers.
A mother said that the genetic test result helped her family understand that her parenting did not cause her child’s autism. “My parents are a lot older, so still kind [of] have the mentality of, ‘It’s because you spoil him…’ But I can now say, ‘Hey, it’s not just because of my mothering.'”1
Some families even told co-workers and employers about the genetic results.1 “It may be helpful to tell your boss if it helps validate your need to take time off to go to a doctor’s visit,” says Julia Wynn, a certified genetic counselor who worked on the study.
Overall, the genetic diagnosis did not affect parents’ self-esteem, optimism, or belief in their ability to reach goals. It also did not significantly change most parents’ views of their child. Some parents said they were more patient with their children, knowing that some behaviors were outside the child’s control.1 “It helps us to understand what’s going on in her brain a little bit more and why,” a mother explained to researchers.2
“For the most part, we don’t see getting a genetic diagnosis as having a large impact on a family, parents’ identity, and their perception of their child,” Wynn says. “They know their child for who their child is, and our hope for this testing is that it will provide more information about how to best care for their child.”
Learning the Risks of Having Other Health Conditions
Parents reported both positives and negatives to learning that that their child’s genetic condition put the child at higher risk of conditions such as seizures or schizophrenia. One benefit: some parents said that they could look for symptoms of these other conditions, should these arise, and seek early treatment.
“The primary thing is the schizophrenia,” one father said. “That’s part of the things we keep an eye out for….”
Little is known about some genetic conditions, and medical treatments do not exist for them yet. For some people, this uncertainty caused sadness or lessened their hope for their child’s future.
“I wish there was more information out there that would be helpful and available to me: the gene affects this, so maybe this type of therapy would help,” one mother explained. “Maybe in the future.”2
The father of an autistic daughter said, “There is an element of sadness or grief, just putting the finality on it, knowing that this is a life sentence for her. There is no medication or magic pill that we can have to take it away from her. We already knew that, but I think just the more you dig in and find out, you just have to start coming to terms with that.”2
A year after receiving a genetic diagnosis, parents of children younger than 22 had somewhat lower expectations for their child’s future. They were a little less likely than before the diagnosis to say that their children would have romantic relationships, have children of their own, or support themselves financially.1
What Do Autistic Self-Advocates Say About Genetic Testing?
A different study by Klitzman’s research team explored the views of genetic testing among 11 autistic adults who were recruited from outside the SPARK project.
A quick look at social media might give you the impression that self-advocates generally oppose genetic testing for any reason. But that’s not what Klitzman’s team found. “The self-advocates who spoke to me had more nuanced views. Their view of whether genetic testing for autism is good or bad depended on how the information will be used,” he explains.
The adults opposed prenatal and pre-implantation genetic testing for the purposes of preventing the birth of autistic babies. But they supported testing that would make it easier for people to get an autism diagnosis and services, especially girls and women who are diagnosed later than males.
One self-advocate told researchers, “Genetic testing could lead to increased diagnosis. The more people talk about it, the more likely the rest of the public is to be aware of it. That would increase acceptance …”3
Another autistic adult said that a genetic diagnosis could help reduce misperceptions and stigma by others. “If they understood that it’s genetic and that there are very real needs, it wouldn’t be about me being lazy … There are some things I just can’t do,” this self-advocate told researchers.3
But genetic testing may not provide as much information for families as they believe, one self-advocate warned.
“I don’t think that a gene can tell you how the autism is going to live out in a person. Even though I can have some compassion and empathy for parents not wanting a non-verbal child who can’t go to the bathroom by themselves, etc., you don’t know if that child will be born that way or if they’ll be born like me, who can talk. If I didn’t tell you I was autistic, you would probably not know. I would be very wary about this gene knowledge causing more abortions, because people are afraid that people like me will be born. I don’t understand that, either. What’s wrong with us?”3
Interested in joining SPARK? Here’s what you should know.
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