When autism spectrum disorder (ASD) is suspected, your child will need a full assessment or evaluation and should be referred for intervention.
A full assessment or evaluation for ASD is needed before arriving at a diagnosis.
Ideally, this is done by a team of professionals and includes includes asking parents and caregivers a number of questions, observing the child, performing a physical examination, and administering various tests.
Intervention for ASD consists of several different things.
First, your child’s pediatrician may prescribe medically necessary therapies such as speech, behavioral, and/or occupational therapy.
- If your child is under 3 years old: He or she should also be referred to your state’s Early Intervention (EI) program.
- If your child is 3 years old or older: He or she can be evaluated, and likely enrolled, in your local school district’s special education services.
- If your child is between 3 and 5 years old: He or she may be eligible to attend a developmental preschool program for children in need of more support. Contact your local school district.
Typically, an evaluation to assess speech/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/language 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 (understanding language), as well as an evaluation of pragmatic language (social use of language) and articulation (pronunciation).
Autism may be associated with a known genetic syndrome or medical condition.
Laboratory tests may be indicated to evaluate for 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, 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 Chromosomal Microarray (CMA) testing and Fragile X testing. At present, up to 20% of children with ASD have abnormalities of their chromosomes identified using genetic testing. Some studies report up to 25-35% of patients are identified with certain types of genetic tests. 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.
- 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).
| Medical tests not recommended: There is not enough clinical evidence to recommend any of the following tests specifically for ASD:Hair analysisRoutine measurement of multiple vitamin or nutrient levelsIntestinal permeability studiesStool analysisUrinary peptides Measurement of mercury or other heavy metals |
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Diagnosis of ASD
Diagnosis of ASD is made by using all the information collected by history, observation, and testing.
If you have concerns about your child’s behavior or development, talk with your pediatrician.
Editor’s note: Children with ASD may have other medical problems that may need further evaluation and treatment. These may include seizures, problems with sleep, gastrointestinal problems (feeding problems, abdominal pain, constipation, diarrhea, and behavioral health problems (such as anxiety, ADHD, irritability, and aggression).