Pediatricians, nurse practitioners, and family doctors begin screening your baby for signs of autism spectrum disorder (ASD) from the very first well-child visit. Their observations, along with your baby’s family history, medical examinations, and parental perceptions, are how they will identify children who are at risk of autism.

The Importance of a Diagnosis

Unfortunately, an autism diagnosis can sometimes be tricky because there is no lab test for it. Instead, parents must observe the behaviors of very young children and bring any concerns they might have to the child’s pediatrician. 

Autism has a wide range of symptoms. Some people who are considered to be “on the spectrum” live independently and have limited difficulties in everyday life, while others face many challenges.
An early diagnosis of autism can greatly impact children and their families. Quality of life for an autistic child improves when their parents learn how to help their child emotionally, physically, and mentally. 

Wherever your child may be on the spectrum, getting an autism diagnosis starts with screening from your child’s pediatrician.

Observational ASD Screening 

Pediatricians start screening your baby or toddler for signs of developmental or communication challenges from their very first well-child visit. They will observe how your baby responds to doctor visits during infancy and the toddler years as well as how they interact with parents.

In the office, your pediatrician will observe: 

  • How your baby laughs. 
  • How your baby points or waves. 
  • How your baby makes eye contact. 
  • How your baby tries to get your attention during the conversation. 
  • How and if your baby cries during the appointment. 

This type of general screening helps your doctor see signs of a potential condition before any overt symptoms appear.

The Parent Questionnaire

Pediatricians also ask parents and caregivers questions to screen for autism in children. Your responses to these questions are an essential part of the screening process.

These questions include information about the following milestones:

  • Was your baby starting to smile by 6 months?
  • Was your baby mimicking sounds and facial expressions by 9 months?
  • Was your baby babbling and cooing by 12 months?

Other questions will focus on specific behaviors. For example:

  • Are there problems with sleep or digestion?
  • Does your child have any unusual or repetitive behaviors?
  • Are they hypersensitive to light, noise, or temperature?
  • Do they have difficulty making eye contact with others?
  • Are they able to comfortably interact with people and share experiences?
  • Are they responsive when someone tries to get their attention?
  • How easily do they get annoyed or angry?
  • Do they understand other people’s actions and have appropriate reactions to them?
  • Do they react unusually to “normal” things?
  • Do they speak in a “flat” tone?
  • Do they dislike being touched, held, or cuddled?
  • Are they able to engage in pretend play?
  • Do they struggle with change or even minor deviations from their regular routine?
  • Do they have a tendency to repeat the same actions over and over?
  • Do they repeat words that someone says to them?

If everything checks out and neither you nor the pediatrician has any concerns, that’s generally the end of the screening. But if your child shows developmental issues or your responses to these questions have raised any red flags, you will continue to have a conversation with the pediatrician. They may recommend additional testing by a specialist. 

The pediatrician will also ask you about family history, such as whether other family members are on the autism spectrum, and seek more information about your child’s development and behavior.

Some children are at an increased genetic risk of ASD. This includes those who have a family member with autism or who have a genetic condition that is tied to ASD, such as fragile X syndrome. These children may need more screening and with more frequency.

Formalized ASD Screening

The American Academy of Pediatrics (AAP) advises that children be screened for ASD at their 18-month and 24-month well-child visits. This screening is in addition to routine developmental observation and screening. 

If the physician doing the screening indicates that a child may have autism spectrum disorder, the child should be referred to someone who is trained in diagnosing autism for a more comprehensive evaluation. Your pediatrician may also recommend genetic testing to rule out any other conditions that could cause similar symptoms.

There are several options for diagnosis, and a formal evaluation usually starts with a diagnostic instrument, such as these: 

For an official autism spectrum diagnosis, your child must meet the standards of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), issued by the American Psychiatric Association. There are two categories your child must have issues with if they will get an official diagnosis of being on the autism spectrum. These standards include the following:

  • Issues with communication and social interaction: Children who have ASD may find it difficult to read social cues, make eye contact, or engage in conversation. It is often challenging for some children with autism to connect with other people. These children frequently speak much later than other children do. They may have limited  fine motor skills, making it more difficult to play sports, draw, or write.
  • Restricted and repetitive patterns of behavior: Children with autism often say the same things  repeatedly, or they might rock their bodies. They may frequently become very distraught with any kind of change in their routine. They often have sensory issues and are intensely interested in a particular subject. 

If your child shows potential symptoms that point to ASD, they could be candidates for development monitoring with a new device authorized by the Food and Drug Administration (FDA) in 2021.  The Cognoa ASD Diagnosis Aid is a new tool that can help medical professionals diagnose ASD. This machine learning-based software helps evaluate and identify developmental issues in children ages 18 months to 5 years. 

Early Diagnosis Is Key

If you think your child might have autism, do not put off sharing your concerns with your child’s pediatrician. Getting a diagnosis as early as possible means you will have more time to gather information, build support, and create a treatment plan.

The sooner a child gets intervention, the better for the child, the parents, and the entire family. If your child is diagnosed with autism, early treatment can have maximum impact,  that your child is able to thrive.

References

AAP Schedule of Well-Child Care Visits (September 2021). Healthy Children.

Autism Spectrum Disorder Screening. MedlinePlus, U.S. National Library of Medicine.

Autism Prevalence in the United States Explained (September 2020). Spectrum.

Autism Spectrum Disorder. National Institute of Mental Health.

Communication and Symbolic Behavior Scales. Texas Autism Conference.

Diagnostic and Statistical Manual of Mental Disorders (DSM–5). American Psychiatric Association.

FDA Authorizes Marketing of Diagnostic Aid for Autism Spectrum Disorder. (June 2021). U.S. Food and Drug Administration.

Fragile X and Autism. National Fragile X Foundation. 

How Is Autism Diagnosed: Screening and Diagnosis. Autism Speaks.

Identification, Evaluation, and Management of Children With Autism Spectrum Disorder (January 2020). Pediatrics.

The Autism Diagnostic Observation Schedule-Generic: A Standard Measure of Social and Communication Deficits Associated With the Spectrum Of Autism (June 2000). Journal of Autism Developmental Disorders.