Autism Screening and Diagnosis


Diagnosing autism spectrum disorders (ASDs) can be difficult, since there is no medical test, like a blood test, to diagnose the disorders.  Doctors look at the child’s behavior and development to make a diagnosis.  

ASDs can sometimes be detected at 18 months or younger.  By age 2, a diagnosis by an experienced professional can be considered very reliable. However, many children do not receive a final diagnosis until much older.  This delay means that children with an ASD might not get the help they need.

Diagnosing an ASD takes two steps:

Developmental Screening

Developmental screening is a short test to tell if children are learning basic skills when they should, or if they might have delays.  During developmental screening the doctor might ask the parent some questions or talk and play with the child during an exam to see how she learns, speaks, behaves, and moves.  A delay in any of these areas could be a sign of a problem.  

All children should be screened for developmental delays and disabilities during regular well-child doctor visits at:
•        9 months
•        18 months
•        24 or 30 months
•        Additional screening might be needed if a child is at high risk for developmental problems due to pre-term birth, low birth weight or other reasons.

In addition, all children should be screened specifically for ASDs during regular well-child doctor visits at:

•        18 months
•        24 months
•        Additional screening might be needed if a child is at high risk for ASDs (e.g., having a sister, brother or other family member with an ASD) or if behaviors sometimes associated with ASDs are present

It is important for doctors to screen all children for developmental delays, but especially to monitor those who are at a higher risk for developmental problems due to preterm birth, low birth weight, or having a brother or sister with an ASD.

If your child’s doctor does not routinely check your child with this type of developmental screening test, ask that it be done.

If the doctor sees any signs of a problem, a comprehensive diagnostic evaluation is needed.

Comprehensive Diagnostic Evaluation

The second step of diagnosis is a comprehensive evaluation.  This thorough review may include looking at the child’s behavior and development and interviewing the parents.  It may also include a hearing and vision screening, genetic testing, neurological testing, and other medical testing.

In some cases, the primary care doctor might choose to refer the child and family to a specialist for further assessment and diagnosis. Specialists who can do this type of evaluation include:

•        Developmental Pediatricians (doctors who have special training in child development and children with special needs)
•        Child Neurologists (doctors who work on the brain, spine, and nerves)
•        Child Psychologists or Psychiatrists (doctors who know about the human mind

Developmental screening can be done by a number of professionals in health care, community, and school settings. However, primary health care providers are in a unique position to promote children’s developmental health.  

Primary care providers have regular contact with children before they reach school age and are able to provide family-centered, comprehensive, coordinated care, including a more complete medical assessment when a screening indicates a child is at risk for a developmental problem.

Screening Recommendations

Research has found that ASDs can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliableHowever, many children do not receive a final diagnosis until they are much older. This delay means that children with an ASD might not get the help they need. The earlier an ASD is diagnosed, the sooner treatment services can begin.

Additional screening might be needed if a child is at high risk for developmental problems because of preterm birth or low birth weight.

In addition, all children should be screened specifically for ASDs during regular well-child doctor visits at:
•        18 months
•        24 months

Additional screening might be needed if a child is at high risk for ASDs (e.g., having a sibling with an ASD) or if symptoms are present.

It is important for doctors to screen all children for developmental delays, but especially to monitor those who are at a higher risk for developmental problems due to preterm birth, low birth weight, or having a sibling or parent with an ASD.  

Early identification of developmental disorders is critical to the well-being of children and their families. It is an integral function of the primary-care medical home and an appropriate responsibility of all pediatric health care professionals.

AAP recommends that developmental surveillance be incorporated at every well-child preventive care visit. Any concerns raised during surveillance should be addressed promptly with standardized developmental screening tests. In addition, screening tests should be administered regularly at the 9-, 18-, and 24- or 30-month visits.
The early identification of developmental problems should lead to further developmental and medical evaluation, diagnosis, and treatment, including early developmental intervention. Children diagnosed with developmental disorders should be identified as children with special health care needs, and chronic-condition management should be initiated. Identification of a developmental disorder and its underlying etiology may also drive a range of treatment planning, from medical treatment of the child to genetic counseling for his or her parents.

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