Screening and Diagnosis of Autism Spectrum Disorder for Healthcare Providers
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.
Research has found that ASD 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 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.
The American Academy of Pediatrics (AAP) recommends that all children be screened for developmental delays and disabilities during regular well-child doctor visits at:
- 9 months
- 18 months
- 30 months
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 ASD during regular well-child doctor visits at:
- 18 months
- 24 months
Additional screening might be needed if a child is at high risk for ASD (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.
In February 2016, the United States Preventive Services Task Force released a recommendation regarding universal screening for ASD among young children. This final recommendation statement applies to children ages 3 and younger who have no obvious signs or symptoms of ASD or developmental delay and whose parents, caregivers, or doctors have no concerns about the child’s development. The Task Force reviewed research studies on the potential benefits and harms of ASD screening in young children who do not have obvious signs or symptoms of ASD. They looked at whether screening all children for ASD helps with their development or quality of life. The final recommendation statement summarizes what the Task Force learned: There is not enough evidence available on the potential benefits and harms of ASD screening in all young children to recommend for or against this screening. This recommendation statement is not a recommendation against screening; it is a call for more research. For more information, please visit www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryFinal/autism-spectrum-disorder-in-young-children-screeningexternal icon.
Integrating routine developmental screening into the practice setting can seem daunting. Following are suggestions for integrating screening services into primary care efficiently and at low cost, while ensuring thorough coordination of care.
An example of how developmental screening activities might flow in your clinic:
For information on reimbursement for developmental screening:
Involving Families in Screening
Research indicates that parents are reliable sources of information about their children’s development. Evidence-based screening tools that incorporate parent reports (e.g., Ages and Stages Questionnaire, the Parents’ Evaluation of Developmental Status, and Child Development Inventories) can facilitate structured communication between parents and providers to discover parent concerns, increase parent and provider observations of the child’s development, and increase parent awareness. Such tools can also be time- and cost-efficient in clinical practice settings.2,3,4 A 1998 analysis found that, depending on the instrument, the time for administering a screening tool ranged from about 2 to 15 minutes, and the cost of materials and administration (using an average salary of $50/hour) ranged from $1.19 to $4.60 per visit.5
Screening children and providing parents with anticipatory guidance―that is, educating families about what to expect in their child’s development, how they can promote development, and the benefits of monitoring development―can also improve the relationship between the provider and parent.6 By establishing relationship-based practices, providers promote positive parent-child relationships, while building the strongest possible relationship between the parent and provider. Such practices are fundamental to quality services.
Screening tools are designed to help identify children who might have developmental delays. Screening tools can be specific to a disorder (for example, autism) or an area (for example, cognitive development, language, or gross motor skills), or they may be general, encompassing multiple areas of concern. Some screening tools are used primarily in pediatric practices, while others are used by school systems or in other community settings.
Screening tools do not provide conclusive evidence of developmental delays and do not result in diagnoses. A positive screening result should be followed by a thorough assessment. Screening tools do not provide in-depth information about an area of development.
Selecting a Screening Tool
When selecting a developmental screening tool, take the following into consideration:
- Domain(s) the Sreening Tool Covers
What are the questions that need to be answered?
What types of delays or conditions do you want to detect?
- Psychometric Properties
These affect the overall ability of the test to do what it is meant to do.
- The sensitivity of a screening tool is the probability that it will correctly identify children who exhibit developmental delays or disorders.
- The specificity of a screening tool is the probability that it will correctly identify children who are developing normally.
- Characteristics of the Child
For example, age and presence of risk factors.
- Setting in which the Screening Tool will be Administered
Will the tool be used in a physician’s office, daycare setting, or community setting? Screening can be performed by professionals, such as nurses or teachers, or by trained paraprofessionals.
Types of Screening Tools
There are many different developmental screening tools. CDC does not approve or endorse any specific tools for screening purposes. This list is not exhaustive, and other tests may be available.
Selected examples of screening tools for general development and ASD:
- Ages and Stages Questionnaires (ASQ)external icon
This is a general developmental screening tool. Parent-completed questionnaire; series of 19 age-specific questionnaires screening communication, gross motor, fine motor, problem-solving, and personal adaptive skills; results in a pass/fail score for domains.
- Communication and Symbolic Behavior Scales (CSBS)pdf iconexternal icon
Standardized tool for screening of communication and symbolic abilities up to the 24-month level; the Infant Toddler Checklist is a 1-page, parent-completed screening tool.
- Parents’ Evaluation of Developmental Status (PEDS)external icon
This is a general developmental screening tool. Parent-interview form; screens for developmental and behavioral problems needing further evaluation; single response form used for all ages; may be useful as a surveillance tool.
- Modified Checklist for Autism in Toddlers (MCHAT)external icon
Parent-completed questionnaire designed to identify children at risk for autism in the general population.
- Screening Tool for Autism in Toddlers and Young Children (STAT)external icon
This is an interactive screening tool designed for children when developmental concerns are suspected. It consists of 12 activities assessing play, communication, and imitation skills and takes 20 minutes to administer.
A more comprehensive list of developmental screening toolspdf iconexternal icon is available from the American Academy of Pediatrics (AAP), including descriptions of the tools, sensitivity and specificity. The list includes general screening tools, as well as those for ASD.
There are many tools to assess ASD in young children, but no single tool should be used as the basis for diagnosis. Diagnostic tools usually rely on two main sources of information—parents’ or caregivers’ descriptions of their child’s development and a professional’s observation of the child’s behavior.
In some cases, the primary care provider might choose to refer the child and family to a specialist for further assessment and diagnosis. Such specialists include neurodevelopmental pediatricians, developmental-behavioral pediatricians, child neurologists, geneticists, and early intervention programs that provide assessment services.
Selected examples of diagnostic tools:
- Autism Diagnosis Interview – Revised (ADI-R)external icon
A clinical diagnostic instrument for assessing autism in children and adults. The instrument focuses on behavior in three main areas: reciprocal social interaction; communication and language; and restricted and repetitive, stereotyped interests and behaviors. The ADI-R is appropriate for children and adults with mental ages about 18 months and above.
- Autism Diagnostic Observation Schedule – Genericexternal icon (ADOS-G)
A semi-structured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having ASD. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language.
- Childhood Autism Rating Scale (CARS)
Brief assessment suitable for use with any child over 2 years of age. CARS includes items drawn from five prominent systems for diagnosing autism; each item covers a particular characteristic, ability, or behavior.
- Gilliam Autism Rating Scale – Second Edition (GARS-2)external icon
Assists teachers, parents, and clinicians in identifying and diagnosing autism in individuals ages 3 through 22. It also helps estimate the severity of the child’s disorder.
In addition to the tools above, the American Psychiatric Association’s Diagnostic and Statistical Manual, Fifth Edition (DSM-5) provides standardized criteria to help diagnose ASD.
|Myth #1||There are no adequate screening tools for preschoolers.|
|Fact||Although this may have been true decades ago, today sound screening measures exist. Many screening measures have sensitivities and specificities greater than 70%. , |
|Myth #2||A great deal of training is needed to administer screening correctly.|
|Fact||Training requirements are not extensive for most screening tools. Many can be administered by paraprofessionals.|
|Myth #3||Screening takes a lot of time.|
|Fact||Many screening instruments take less than 15 minutes to administer, and some require only about 2 minutes of professional time., |
|Myth #4||Tools that incorporate information from the parents are not valid.|
|Fact||Parents’ concerns are generally valid and are predictive of developmental delays. Research has shown that parental concerns detect 70% to 80% of children with disabilities.,|
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- Tadevosyan-Leyfer O, Dowd M, Mankoski R, Winklosky B, Putnam S, McGrath L, et al. A principal components analysis of the Autism Diagnostic Interview–Revised. Journal of the American Academy of Child and Adolescent Psychiatry 2003;42(7):864-872.
- Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, et al. The Autism Diagnostic Observation Schedule–Generic: a standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders 2000;30(3):205-230.
- Van Bourgondien ME, Marcus LM, Schopler E. Comparison of DSM-III-R and Childhood Autism Rating Scale diagnoses of autism. Journal of Autism and Developmental Disorders 1992;22(4):493-506.
- Gilliam JE. Gilliam Autism Rating Scale – Second Edition (GARS-2). Austin, TX: Pro-Ed; 1995.
- Committee on Children and Disabilities, American Academy of Pediatrics. Developmental surveillance and screening for infants and young children. Pediatrics 2001;108(1):192-195.
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- Glascoe FP. Evidence-based approach to developmental and behavioral surveillance using parents’ concerns. Child: Care, Health, and Development 2000;26:137-149.
- Squires J, Nickel RE, Eisert D. Early detection of developmental problems: strategies for monitoring young children in the practice setting. Journal of Developmental and Behavioral Pediatrics 1996;17:420-427.