Autism Diagnosis: Screening and Testing

Given that there’s no medical test for autism that can conclusively confirm a diagnosis, such as a blood test or genetic test, identifying the neurological and developmental disorder can be challenging in some cases.

Diagnosis of the condition is based on monitoring and analyzing an individual’s behaviors and overall development, and determining whether or not they fit criteria that characterize autism. (1) Although autism screening is part of most routine pediatric checkups, ensuring that parents and those who work with kids know the red flags for the disorder and are on the lookout for them can help make sure children get the support they need as soon as possible.

“We know quite a lot about behavioral treatments,” explains Jeremy Veenstra-Vanderweele, MD, director of child and adolescent psychiatry at Columbia University College of Physicians and Surgeons. “Diagnosing a child early and treating them starting in their early school-age years clearly improves outcomes for a lot of kids.”

If you suspect your child or a child you know is showing signs of autism or a routine screening indicates that to be the case, here are the steps that could lead to an autism diagnosis.

Your Pediatrician Is Probably Already Regularly Screening Your Child for Autism

Most pediatricians regularly screen all children for developmental delays and disabilities between 9 and 30 months. (Although the 2015 American Academy of Pediatrics recommendations do call for routine autism screening in young children, other guidelines, such as those from the U.S. Preventive Services Task Force, do not.) (2,3)

Routine screenings can involve different steps. The doctor might ask the parent questions about the child’s behavior or observe how the child responds in a social situation, like being asked to join a game. He or she is looking for behaviors in the child such as lack of eye contact, repetitive gestures or movement, or focusing obsessively on one topic. A comprehensive evaluation will be done if the doctor notices any indication of a problem.

Kids who are at higher risk for autism, including children who were born prematurely, those who had a low birth weight, and those with a sibling or parent with autism, may be screened more frequently. (4)

Additionally, if you or someone who cares for your child (such as a teacher or a daycare worker) notices warning signs of autism, you can ask your child’s doctor to conduct a screening at any time. (5)

Parents’ observations of their child’s behaviors and habits are important in helping to identify problems and allowing clinicians to make an accurate diagnosis, in addition to the screenings and tests medical providers do, notes Thomas Frazier, PhD, a professor of psychology at John Carroll University in Ohio and board member of Autism Speaks, an advocacy organization.

Comprehensive Diagnostic Evaluations for Autism: What to Expect

There are multiple diagnostic tools that clinicians use to make an autism diagnosis. (Some examples include the Gilliam Autism Rating Scale-Second Edition [GARS-2] and the Autism Diagnostic Interview-Revised [ADI-R].) The tools help the clinician determine if the child meets certain criteria that indicate the child has autism. The tools typically require the doctor to rank the child on a number of criteria, such as behaviors, past behavior as reported by the parents, and other direct observations. The results and how the child compares with other children with autism and other healthy children indicate whether or not the child has autism.

The tools are helpful because clinicians aren’t just looking for one characteristic to make an autism diagnosis. In some cases, learning delays alone may be severe enough that a child should be diagnosed with autism. In other cases it might be a combination of a child having mild learning delays, mild problems socializing, and sometimes making repetitive gestures that leads a doctor to make an autism diagnosis.

Most tools involve (and all autism diagnoses should be based on) both input from the child’s parents about behaviors and habits and a clinician’s direct observation of the child. Full evaluations for autism can also involve vision and hearing tests and genetic and neurological testing.

Sometimes pediatricians complete autism evaluations, and in other cases your child’s doctor might recommend that you and your child see a developmental pediatrician, child neurologist, or child psychologist, who may have more expertise that would be helpful to make an accurate diagnosis (and get your child the help they need).

If your child scores positively on the tests and the results show your child does have autism, the diagnosis is a significant one and can be overwhelming for parents and the entire family, Dr. Veenstra-Vanderweele notes.

“Parents always, rightfully, have a lot of questions at that time of diagnosis. It can be overwhelming, consuming, and emotionally devastating,” he says. But getting treatment started for your child, talking to other parents that have been through it, and taking care of yourself through the process are important. (6)

Why and When Autism Is Diagnosed in Adults

Adults do not develop autism, but in some cases people with the condition did not receive a diagnosis as a child. Or in some cases autism may have been mistakenly diagnosed as another condition. (7)

For example, autism can be confused with obsessive-compulsive disorder (OCD) because of the similar symptoms, according to the National Autistic Society in the United Kingdom. Individuals with both conditions display repetitive or compulsive behaviors. (This can also lead autistic people who are exhibiting OCD to have such symptoms written off as merely autistic traits.) (8)

Getting an accurate diagnosis if you’re an adult with autism is important. Even if you’ve coped for decades with the problem, knowing what’s going on can help you face struggles that continue to be a problem and treatment might make it easier to manage the burden you do face.

Making an autism diagnosis in an adult involves looking at a lot of the same factors that get observed in children, says Veenstra-Vanderweele. Adults go through observation and analysis with a doctor or a therapist, who’s looking at social interactions, communication skills, and sensory issues. They’re also looking for those warning signs of autism, like repetitive behaviors and having limited interests. The clinician may also ask the individual to recall specific experiences in their childhood that would indicate there was a developmental problem, like learning to talk late or having trouble in social situations. There are no criteria used to diagnose autism in adults that are distinct from the ones used to diagnose the disorder in children.

Who diagnoses autism in adults? There are not many clinicians who specialize in evaluating and diagnosing autism in adults. Consulting a developmental pediatrician, child psychiatrist, or pediatric neurologist — whose experience with treating children could help them make a diagnosis for adults — might be a good place to start. (7)

Autism centers that specialize in treatment of the disorder may have clinicians who can help you, or they may be able to recommend where to get further help. Another resource is the Autism Speaks Autism Treatment Network, which helps individuals find specialists who treat all types of autism. (9)

It can also be helpful to discuss your concerns with your primary care provider, who knows your medical history and may be able to help you decide how best to proceed.

Does At-Home Autism Screening Work?

Google “autism screening” and you will find many online quizzes and self-screening evaluations. Do they work? Veenstra-Vanderweele says that you should raise a skeptical eyebrow to these kinds of self-tests.

“There are many of us who have ‘autism traits,’ and the difference between those traits and actual autism spectrum disorder comes down to the life course, the degree of severity, and actual impairment from these traits,” he says. “This is usually something that is best determined in conversation with a clinician, who will typically also need to speak with family members to evaluate the course of these traits.”

Plus, such self-tests can trigger unnecessary worry and anxiety in healthy people, he says. His suggestion: If you do have concerns, talk to your clinician.

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