The Long, Long Road to Autism Diagnoses
Date Published: September 27, 2022
Tom and Melissa Evans first heard the word autism in connection with one of their children about seven years ago.
An occupational therapist seeing their oldest son, then 7, said he might have autism.
“‘What? No,'” Melissa recalls saying to the therapist. “I had no clue.”
Wouldn’t autism have been obvious to them or their pediatrician? Despite their shock, they made an appointment for autism testing for their son and younger daughter. Both had problems with processing information from their senses, one possible sign of autism.
But these early suspicions did not lead to an early diagnosis for either child. The Evans family discovered how difficult, and lengthy, it can be sometimes to get a diagnosis for children who do not quite fit the classic picture of autism.
Today, seven years since that first autism evaluation, three of their four children have been diagnosed with autism, two just this year. And they are awaiting the results of an autism evaluation for their youngest child.
They recently joined SPARK, the largest study of autism, hoping to contribute to what science knows about autism and how it may run in families. About 16 percent of the families in SPARK have more than one member with autism. “We hope we can help others going through the same situation,” Melissa says.
Is this Autism?
Their journey started with the family’s effort to help their third child, Sariah, with sensory processing problems. Sariah, who was 3, did well with occupational therapy, so Melissa took her eldest, son Trenton, for the therapy. That is when the therapist told her that he suspected Trenton has autism.
The Evans, who were living in California at the time, took Trenton and Sariah for autism evaluations, but they left without any diagnoses. Although the children had some symptoms of autism, they were told, Trenton and Sariah were “too social” to have the condition.
Both children were outgoing, sometimes in unusual ways, their parents say. Sariah would talk freely to strangers, and Trenton would organize games for other children he saw at a play area, for example.
Almost two years later, the family moved to another town. Trenton had a rough transition to the new school. He was frequently upset, so his parents took him to a therapist. “The first thing she said is, “I think this is Asperger’s,” Melissa recalls.
Asperger syndrome is a milder form of autism that is now, like other types of autism, simply called autism spectrum disorder. Shortly afterward, Trenton received a formal diagnosis of autism and an Individualized Education Plan (IEP) to help with social and behavioral challenges at school. Now 14, Trenton does not have any academic problems. He receives accommodations at school, and he no longer has an IEP.
Seeking Help for Another Child with Autism Traits
The Evans became concerned about their second child, Matthew, when he was about 6. He had some meltdowns, which are fairly common in children on the spectrum. He also became obsessed with scary stories. A very intense interest in a topic or object is another possible sign. His parents took him to see a psychologist, who did not believe Matthew had autism.
A few years later, the family moved to Texas, and Matthew went to a new school. He struggled to make friends and manage his emotions. Finally, he too received an autism diagnosis this year. He is 12.
Matthew also works with a specially trained service dog, a shelter mutt named Clarence. A therapist had recommended a service dog for Matthew several years ago. “From the very beginning, Clarence bonded with Matthew, like he just knew that he was his person,” Melissa says. “When Clarence is working, he is a major comfort to Matthew.”
Another Diagnosis, Years Later
As Sariah got older, the youngster who was once pronounced “too social” to have autism began experiencing social problems. She told her mother that classmates were being mean and also making annoying noises. “She wants friends so badly, and she doesn’t quite understand why they get annoyed when she’s in their faces saying, ‘Play with me! Play with me!'” Melissa says. “She doesn’t quite understand the social cues, and she gets her feelings hurt.”
At one point, desperate to get answers, the family made an appointment for Sariah to see a busy pediatric neurologist more than an hour from their home. After months of waiting, they arrived at the appointment, only to be told by the doctor, “I don’t diagnose autism.”
Sariah’s struggles to fit in began affecting her previously happy mood. Finally, Sariah, now 10, received an autism diagnosis in 2022, years after her first autism evaluation. Like her older brothers, she did not receive a diagnosis until after age 9.
The Evans children were all diagnosed much later than is typical. The average age of autism diagnosis for children in the SPARK study, and in the United States, is 4.
As young children, the Evans siblings did not seem to have some of the typical autism symptoms, such as obvious speech and social delays, although they had other behavioral signs that their parents brought to the attention of doctors and therapists.
In Sariah’s case, she had two factors that often delay an autism diagnosis: she is a girl, and she had a previous diagnosis of attention deficit hyperactivity disorder, also called ADHD.
Research suggests that an ADHD diagnosis can delay an autism diagnosis by three years. The authors of that study urged doctors to consider autism in small children with ADHD symptoms.1
Many youth and adults with autism also have ADHD. Anxiety, depression, and other mental health conditions are more common in people on the spectrum than in others, too, according to research.
Girls, like Sariah, are diagnosed with autism later than boys, who greatly outnumber them. Some researchers wonder if the tools used to diagnose autism, developed from research that mostly involved boys, might not work as well in girls on the spectrum.
Getting a diagnosis as soon as possible is important, doctors and researchers say. The sooner children are diagnosed, the sooner they can begin receiving autism interventions, therapies, and special education and accommodations at school.
One healthcare provider had recommended that Sariah begin behavioral therapy for autism when she was in first grade, Melissa says. But Sariah could not receive the therapy then because she did not have an autism diagnosis yet.
A professional diagnosis of autism is necessary to participate in SPARK research, although the parents and siblings of people on the spectrum may join, too.
A Possible Fourth Diagnosis
Tom and Melissa suspect that their youngest child, Caleb, 7, also has autism. Like some children on the spectrum, he has particular routines he wants to follow. “He has very specific ways of doing things,” Melissa says. For example, he will only eat his food cold, even foods like frozen waffles that are meant to be heated.
The Evanses recently took Caleb to be evaluated for autism, but they have not received results yet. Tom worries that Caleb may have to wait years for a diagnosis, like his siblings did.
He hopes research can smooth the path for families like his, so they may arrive at answers and help much sooner. “We were missing out on a lot of support at a young age,” he says. “I would love to see answers eventually come as to why these things aren’t apparent at a younger age. Why do parents of young children struggle so much before people finally believe them?” he asks. “I’m not making this up about my child. There’s something going on.”
Maybe, Melissa says, SPARK’s genetic research will make it easier for doctors to help people on the spectrum. “I’m hoping that will shed some light on finding faster answers.”
Interested in joining SPARK? Here’s what you should know.
Photo provided by Melissa Evans.
- Miodovnik A. et al. Pediatrics 136, e830-e837 (2015) PubMed