Testing for Autism

Written by Jacquelyn Cafasso | Published on October 13, 2014
Medically Reviewed by Kenneth R. Hirsch, MD on October 13, 2014

What Is Autism?

Autism is a developmental disease that causes social, communication, and behavioral problems. These issues vary in severity between individuals. The diagnosis of autism now includes three conditions that used to be diagnosed separately. They are collectively now all called autism spectrum disorder (ASD):

  • autistic disorder
  • pervasive developmental disorder, not otherwise specified (PDD-NOS)
  • Asperger syndrome

According to the Centers for Disease Control and Prevention (CDC), in 2010 ASD was estimated to occur in about one in every 68 children. Autism spectrum disorders are reported in all racial, ethnic, and socioeconomic groups. They are about four to five times more common among boys than girls. At the present time, ASD has no cure and the exact cause of the disorder is not yet known. There may be many different factors that make a child more likely to have ASD, including environmental, biologic, and genetic factors.

The disorder is typically diagnosed in early childhood. However, given that the symptoms and severity of the disorder vary greatly, and the cause of the disorder has not yet been found, autism spectrum disorder can often be quite difficult to diagnose.

What Are the Symptoms of Autism?

According to the Wirral Autistic Society, the word “autism” comes from the Greek word “autos” meaning self. Children with autism seem to be to varying degrees, concerned only                                                                                                                                                                                                                                                                                                 with themselves. The early signs and symptoms of autism vary widely. Some children with ASD only have mild symptoms, and others have severe behavioral problems. Every child with autism experiences problems with the following three areas:

  • communication (verbal and non-verbal)
  • interacting with others and social skills
  • repetitive behaviors

Developmentally, typical infants are very interested in the world and people around them. A child with ASD might not be interested or have difficulty interacting with the world around them.

Early symptoms of ASD include the following:

  • delayed language development
  • no pointing at objects or people or waving goodbye
  • not following people by eye
  • lack of responsiveness
  • does not imitate facial expressions
  • does not reach out to be picked up
  • running into or close to walls
  • wanting to be alone
  • not playing “pretend” games like feeding a doll
  • have obsessive interests
  • causing injury to himself or herself
  • temper tantrums
  • unusual reactions to the way things smell or taste

What Tests are Available to Diagnose Autism?

At present, there is no official test for diagnosing autism. A parent or doctor may notice early indications of ASD in an infant. An official diagnosis of ASD is typically made by an entire team of specialists and experts.

Early Indications

Normal toddlers are very interested in interacting with people and the environment they live in. Most often parents are the first to notice that their child is showing atypical behavior. Parents should be aware of the early warning signs of autism, and should share any concerns with a doctor. Some of the early indications of ASD include:

  • avoidance of making eye contact
  • not responding to his or her own name
  • no babbling by one year of age
  • no smiling or joyful expressions by six months of age
  • no gesturing like pointing, showing, or waving by one year
  • no meaningful phrases by two years of age
  • loss of speech or social skills

If you think your child might have ASD or you notice that your child plays, learns, speaks, or acts in unusual ways, share your concerns with your child’s doctor.

Developmental Screening

Every child should be screened for developmental disorders during routine and regular visits with a doctor starting at birth. If a parent raises concerns about a child’s development, a primary care doctor may refer the child to a specialist. This is especially true if a child has a sibling or other family member with ASD. The specialist will conduct tests to determine if there is a physical reason for the observed behaviors (such as a hearing test to evaluate for deafness/difficulty hearing) and other screening tools for autism, such as the Modified Checklist for Autism in Toddlers.

According to the National Institutes of Health (NIH), the M-CHAT-R/F is an updated screening tool given to parents to help determine a child’s risk of having autism as low, medium, or high. The test is free and is based on the parents’ answers to 20 questions.

If the test scores in the high-risk range, a more comprehensive diagnostic evaluation is needed. If the test scores in the medium-risk range, follow-up questions may be asked to help definitively classify the results.

Comprehensive Behavioral Evaluation

The next step in autism diagnosis is a complete physical and neurologic examination. This may involve a team of specialists. Some of the types of medical professionals that may be involved include:

  • developmental pediatricians
  • child psychologists
  • child neurologists
  • speech and language pathologists
  • occupational therapists

The evaluation may also include screening tools. There are many different developmental screening tools and no single tool should be used to diagnose autism. Rather, a combination of many tools should be used for an autism diagnosis. Some examples of screening tools include:

  • Ages and Stages Questionnaires (ASQ)
  • Autism Diagnostic Observation Schedule (ADOS)
  • Childhood Autism rating Scale (CARS)
  • Autism Diagnostic Observation Schedule – Generic (ADOS-G)
  • Pervasive Developmental Disorders Screening Test - Stage 3
  • Parents’ Evaluation of Developmental Status (PEDS)
  • Gilliam Autism Rating Scale
  • Screening Tool for Autism in Toddlers and Young Children (STAT)

There are also specific screening tools available for Asperger syndrome. Asperger syndrome is sometimes thought of as the “high-functioning” form of autism, however such a reductionist nomenclature is probably not useful either in a clinical diagnostic sense nor for the overall well being of the child. These particular screening tools include:

  • Autism Spectrum Screening Questionnaire (ASSQ)
  • Childhood Asperger Syndrome Test (CAST)

According to the CDC, the American Psychiatric Association's Diagnostic and Statistical Manual, Fifth Edition (DSM-5) also offers standardized criteria to help diagnose ASD.

Genetic Testing

Genes are made of DNA. DNA gives our bodies instructions on how to grow and develop properly.  If a disorder has a genetic component it means that at least some of the problems that make us ill are “hard wired” into our biology through these changes in DNA. Genetic testing is used to find the changes in a person’s DNA associated with specific disorders or conditions, assuming such a mutation (DNA change) has been identified and it has clearly been associated with the disease in question.  It can help determine whether a person has a genetic disease and the risk that other family members have the same condition or the chance that it can be passed on to their future children.

According to the Emory Genetics Laboratory at Emory University, a genetic cause has been identified in roughly 15 to 20 percent of ASD cases.

Genetic tests for ASD are available at certain laboratories. The tests detect the most common known genetic contributors to ASD.  An abnormal result on one of these genetic tests means that genetics is probably significantly contributing to the presence of the ASD.

A normal result does not indicate the absence of an ASD diagnosis, nor even that a previously unrecognized ASD with a genetic component is not present. It only means the cause is still unknown. More testing will be needed.   

What Should You Do If Your Child Is Diagnosed With Autism?

An accurate and timely diagnosis of ASD is very important. Early intervention and treatment can greatly reduce the challenges associated with the disorder and give your child the possibility of independence. If ASD is found to have one of the known genetic causes, it’s important that other family members receive counseling about their risk of having another child with ASD.

Treatment for ASD is most successful when it’s tailored toward the child's needs. A team of specialists, teachers, therapists, and doctors should design a program for each individual child. In general, the earlier a child is enrolled in a program, the better their long-term outlook.

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