If
autism spectrum disorder (ASD) is the suspected cause of language and social delays, your child will need a full diagnostic evaluation. They should also be referred for early intervention services.
Here's what else to expect.
A full assessment or diagnostic evaluation for ASD is needed before arriving at a diagnosis.
Ideally, this is done by a team of professionals. It includes asking parents and caregivers a number of questions, observing the child, doing a physical examination and requesting 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. Although diagnostic evaluations can take some time to arrange, some early intervention services can start without a diagnosis.
Starting services through early intervention programs
If your child is under 3 years old: They should also be referred to your state's Early Intervention (EI) program.
If your child is 3 years old or older: They 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: They may be eligible to attend a developmental preschool program for children in need of more support. Contact your local school district.
Meanwhile, a doctor or psychologist with expertise in diagnosing ASD may make the diagnosis. ASD can also be diagnosed by a team of specialists that might include developmental pediatricians, child neurologists, child psychiatrists, psychologists, speech-language pathologists, occupational or physical therapists, educators and social workers.
Typically, a diagnostic evaluation for ASD includes:
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 a child's social and language functioning is significantly more impaired than their 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 gestures) and receptive language (understanding of others' speech and gestures). This should also include an evaluation of pragmatic language (social use of language) and articulation (pronunciation).
While an ASD diagnosis is based on all the information collected, such as a child's history, observations and tests, these do not have to be completed at the same time. There is value in receiving a diagnosis and continuing to add information to a supports and services plan.
Autism may be associated with a known genetic syndrome or medical condition.
Laboratory tests may be called for to evaluate for other possible medical conditions that could cause ASD symptoms. This depends on findings from the child's history and physical examination. If these tests are appropriate, your child may be referred to other specialists, such as a
geneticist or
pediatric neurologist.
Medical tests may include:
Genetic tests. It is recommended that families be offered genetic testing, such as chromosomal microarray testing, to help identify potential reasons a child might have ASD. At present, up to 42% of children on the autism spectrum have genetic abnormalities that can be identified through chromosomal microarray testing.
Depending on findings from a child's history and physical examination, other types of genetic testing may be recommended to look for specific disorders. Examples include
fragile X syndrome,
Rett syndrome or
tuberous sclerosis complex. Genetic testing should be strongly considered if a child has either unusual physical features or developmental delays. Genetic testing may also be recommended if there is a family history intellectual disability of an unknown cause or other genetic disorders.
Lead test.Lead screening is an important component of well-child checkups. A child's blood lead level should be tested when they live in a high-risk environment, such as an older building, or continue to put things in their mouth.
Other tests. Depending on findings from the child's medical history and physical examination, electroencephalography (EEG), a magnetic resonance imaging (MRI) or tests for metabolic disorders may be requested. 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 deficiency).
Medical tests not recommended:
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 peptide analysis
Measurement of mercury or other heavy metals
Diagnosing ASD
Diagnosis of ASD is made by using all the information collected by history, observation and testing.
See
How is Autism Diagnosed?
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).
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