autism spectrum disorder (ASD) is suspected, your child will need a full assessment or evaluation and should be referred for
early intervention (EI) services. This assessment includes asking parents and caregivers a number of questions, observing the child, performing a physical examination, and administering any tests that may assist in arriving at a specific diagnosis. Ideally, this is done by a team of professionals.
Assessing Language and Social Delays
Typically, an evaluation to assess language and social delays can include:
Careful observation of play and child-caregiver interactions.
Detailed history and physical examination.
Review of records of previous early intervention services, school, or other evaluations.
Developmental assessment of all skills (motor, language, social, self-help, cognitive). ASD is suspected when the child's social and language functioning are significantly more impaired than the overall level of motor, adaptive, and cognitive skills.
Hearing test. All children with any
speech delays or those suspected of having ASD should have their hearing formally tested.
Language evaluation that provides standardized scores of expressive language (including speech) and receptive language, as well as an evaluation of pragmatic language (social use of language) and articulation (pronunciation).
Autism may be associated with a known syndrome or medical condition. Laboratory tests may be indicated to rule out other possible medical conditions that could cause ASD symptoms based on the child's history and physical examination. If needed, the child may be referred to other specialists, such as a
geneticist or a
pediatric neurologist, to help diagnose medical conditions that might cause or be associated with symptoms of ASD.
Medical tests may include:
Genetic tests. It is recommended that families be offered genetic testing, such as cytogenetic microarray testing. At present, up to 10% to 20% of children with ASD have abnormalities of their chromosomes identified using cytogenetic microarray testing. Genetic testing should be strongly considered if a child has unusual physical features or developmental delays or if there is a family history of fragile X syndrome,
intellectual disability of unknown cause, or other genetic disorders. Other genetic tests may be needed in certain cases. Recommendations for genetic testing may change as new tests are developed.
Ethical and Policy Issues in Genetic Testing and Screening of Children (AAP Policy Statement).
Lead test.Lead screening is an important component of primary care. A lead level should be performed when a child lives in a high-risk environment, such as older buildings, or continues to put things in his mouth.
Other tests. Based on the child's medical history and physical examination, an electroencephalogram (EEG), a magnetic resonance imaging (MRI) scan, or tests for metabolic disorders may be ordered. Children with ASD may be
picky eaters, so your child's pediatrician may recommend looking for evidence of
iron or vitamin deficiencies (especially vitamin D).
There is not enough clinical evidence to recommend any of the following tests specifically for ASD:
- Hair analysis
- Routine measurement of multiple vitamin or nutrient levels
- Intestinal permeability studies
- Stool analysis
- Urinary peptides
- Measurement of mercury or other heavy metals
Diagnosis of ASD
Diagnosis of ASD is made by using all the information collected by history, observation, and testing.
How is Autism Diagnosed?
If you have concerns about your child's behavior or development, talk to your pediatrician.