The terms autism and autism spectrum disorder are relatively new diagnoses in the world of mental, behavioral, and developmental disorders.
The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) created the umbrella term autism spectrum disorders and eliminated some of the separate diagnoses, like Asperger’s syndrome, so more people with similar symptoms would receive better behavioral therapy and medical treatment.
There has been concern that these changes result in inaccurate diagnoses. Clinicians are still learning more about how the disorder manifests in a wider range of people, so they can improve their understanding and better target treatment.
Since autism isn’t diagnosed via a definitive test, mistakes can be made during the diagnostic process. Standard autism screenings don’t necessarily detect every child with autistic symptoms. Many children aren’t caught by these screenings but go on to get an autism diagnosis later in life.
Likewise, some children may be diagnosed with autism at an early age, and their symptoms seem to fade with age.
While the diagnostic process for autism isn’t perfect, the identified symptoms of autism are believed to be accurate. While one or two symptoms isn’t enough to warrant an autism diagnosis, doctors will look at the full picture to determine if a diagnosis of autism is appropriate.
The History of Autism: Continuing to Improve the Medical Understanding of the Disorder
The term autism has existed since the early 20th century, but it was not applied to the developmental disorder until the 1940s. Leo Kanner and some fellow researchers described children who were less mobile, had slower cognition and language abilities, and did not seem interested in socializing.
Kanner and his team originally believed that autism came from “refrigerator mothers,” or women who were so cold toward their children that it slowed their emotional and cognitive development. Later research into the biological underpinnings of the condition, based on a 1970s study on twins, eliminated parental involvement as a cause and suggested a genetic cause instead.
In 1980, autism was separated from schizophrenia, and it was no longer listed as one of the psychotic conditions. Instead, it increasingly became its own condition, with distinctive symptoms.
By the time the DSM-IV was released, autism was known as a developmental disorder with a range of symptoms. With the advent of the long-awaited DSM-5, autism was a widely recognized condition.
The Centers for Disease Control and Prevention (CDC) currently estimates that 1 in 54 children in the United States is on the autism spectrum. This is an increase from just 10 years ago, when 1 in 110 children reportedly had autism. With what seems like a steep rise in cases, many people might think that more children are being born with autism, but this adjustment actually reflects important changes to the accuracy of diagnosing autism spectrum disorder.
How Autism Is Currently Diagnosed
Pediatricians are more often screening for symptoms of autism starting around 6 months old, and these screenings usually continue until patients are about 4 years old. The ways your child can be screened for autism, and diagnosed if symptoms stabilize or get worse, include:
- Developmental screenings during regular checkups with your child’s pediatrician.
- Continued evaluation if your family has a history of autism.
- Behavioral assessments, including medical history and clinical observations, especially for adults.
There are several questionnaires and screening lists that doctors use to understand and rate symptoms that children or adults may experience.
A 2013 study found that some children lose their diagnosis of autism as they get older. Typically, autism is diagnosed around 2 years old, after behavioral and cognitive symptoms stabilize. However, some children can still grow out of these symptoms. With help from a behavior therapist, some children may minimize their symptoms and end up with a less severe diagnosis.
The study surveyed 34 participants between the ages of 8 and 21 who received therapy after getting an early diagnosis. They were compared to 44 children with “high-functioning” autism, or mild symptoms. The children who received early interventions reportedly behaved no differently than their neurotypical peers.
This study does not mean that children did not have developmental struggles that led to their autism diagnosis, but it did show the power of early intervention with behavior therapy. As part of care, doctors and therapists often revise their diagnoses based on observation and new information.
If a person gets a revised diagnosis, this does not necessarily mean their original diagnosis was inaccurate. Instead, new observations have been made, and a new treatment plan is needed to support the individual. In this case, revising the treatment plan means the child is more self-sufficient, so they do not need the same intensity of behavior therapy.
Misdiagnosing Children With Autism: Losing the Diagnosis Later in Childhood
A 2019 study did raise questions about the efficacy and accuracy of autism diagnoses.
Researchers examined health records for 25,999 patients between 16 and 26 months old, who were screened using the M-CHAT/F autism survey. Of the children surveyed, 91% had this questionnaire as part of their diagnostic process. Researchers followed their progress through 4 to 8 years of age. The survey reportedly found only 40% of the children who were later diagnosed with autism, showing it to not be an effective screening tool.
Problems with the survey seemed to be related to race and language.
- Children in racial minorities were less likely to receive a diagnosis than white children.
- Children from non-English-speaking households received more inaccurate diagnoses.
- Male children were more likely to be accurately diagnosed with autism than females.
The current understanding of autism is largely based on surveys of Caucasian male children, but clinicians are learning more about how autism presents in a wider range of people by gender and race. This will further improve the diagnostic criteria for autism, so pediatricians can help more people get appropriate treatment.
Another study, from 2014, suggests that early childhood manifestations of autism and attention deficit hyperactivity disorder (ADHD) might be similar enough that some children are misdiagnosed. The study looked at why some children lose their diagnosis of autism. Researchers found that many of the children surveyed instead received an updated diagnosis of ADHD when they began to display greater imagination, hyperactivity, and inattentiveness.
However, a different study involved brain scans of people who had lost their autism diagnosis, those with high-functioning autism, and those who experienced reactivation of symptoms. The study found that those who “lost” their diagnosis showed greater activation of other brain areas to help support cognitive function.
The study compared the range of autistic individuals’ brain scans on a sentence-comprehension task to those of neurotypical peers. The group with autism activated the same brain areas, while neurotypical control participants had different areas involved. However, those who had “lost” their diagnosis had brain regions in both hemispheres activated that were not part of either the high-functioning or neurotypical control groups’ scans.
Continuing Research on Autism Improves Diagnostic Accuracy
Pediatricians have reported that they also need better tools to accurately diagnose the children they treat.
First, many have been aware for a long time that the range of listed symptoms does not provide enough information to accurately diagnose non-white, non-male groups. This means that many people who are already struggling with less access to health care do not get the treatment they need.
Anecdotal evidence also suggests that pediatricians may overdiagnose autism in some children with related developmental disorders on the spectrum because Medicaid funding to support these children requires more intense diagnoses to receive more funding for care. Applied behavior analysis (ABA) therapy is typically covered at least in part by insurance since it is an evidence-based therapy. Despite this coverage, it can cost parents more money to access this therapy if their child has milder symptoms or a lower-level diagnosis, rather than a more intensive level of autism.
There are several reasons that someone may lose their diagnosis of autism, and medical research is just beginning to understand these conditions. Theories range from inaccurate initial diagnoses to therapy success that allows symptoms to be effectively managed, to the point where they seem no longer present.
Ongoing improvement in diagnostic criteria is vital to helping as many children as possible. Understanding when diagnoses fail does not mean autism is an inaccurate diagnosis, but that clinicians must continually refine their understanding and treatment of the disorder.
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The History of Autism. (2014). Parents.com.
Data & Statistics on Autism Spectrum Disorder. (March 2020). Centers for Disease Control and Prevention (CDC).
How Autism Is Diagnosed. (January 2020). Psych Central.
Study Documents That Some Children Lose Autism Diagnosis. (January 2013). National Institutes of Health (NIH).
Questions Raised About Accuracy of Autism Screening. (September 2019). Health Europa.
Losing an Autism Diagnosis. (April 2019). American Psychological Association (APA).
The Difficulties Doctors Face in Diagnosing Autism. (January 2016). The Conversation.