Diagnosis and Evaluation

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Diagnosing autism involves behavioral observation and history. Learn about the autism diagnosis process, the ADOS-2 test, and genetic screening options.

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The Diagnostic Puzzle

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Diagnosing Autism Spectrum Disorder (ASD) is a detailed process based on behavior, history, and development, since no single test can confirm it. At LIV Hospital, a multidisciplinary team carefully evaluates each child using gold-standard tools to ensure an accurate diagnosis and guide effective early intervention.

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Routine Screening Tests

The journey often begins at your regular well-child visits.

  • Developmental Surveillance: At every check-up (9, 15, and 30 months), the pediatrician asks about milestones. Are they pointing? Are they smiling back?
  • M-CHAT-R/F: This stands for the Modified Checklist for Autism in Toddlers. It is a questionnaire given at 18 and 24 months. It asks simple questions like “Does your child play pretend?” or “Does your child get upset by everyday noises?”

The Result: A high score on the M-CHAT does not mean your child has autism, but it flags them as “at-risk.” This triggers a referral for a full diagnostic evaluation.

The "Gold Standard" Evaluations

The "Gold Standard" Evaluations

If screening suggests ASD, we move to formal diagnostic testing. We use specific tools recognized globally for their accuracy.

Autism Diagnostic Observation Schedule (ADOS-2)

This is the most respected diagnostic tool in the field.

  • The Process: It looks like a play session. The doctor engages the child with specific toys, games, and conversation starters.
  • The Goal: It is not a test of intelligence. It is a “social press.” We set up situations to see how the child asks for help, shares enjoyment, or responds to social cues.

Scoring: The doctor rates the child’s behaviors in real-time. This provides an objective score regarding social communication and repetitive behaviors.

Autism Diagnostic Interview-Revised (ADI-R)

While the ADOS-2 looks at the child now, the ADI-R looks at the past. It is an extensive interview with the parents. We ask detailed questions about the child’s early development. We need to know if symptoms were present before age 3, even if they were subtle. This history is crucial because autism is a developmental disorder, meaning it has been there from the start.

Medical and Sensory Exclusion

Before confirming a brain-based social disorder, we must rule out physical barriers to communication.

  • Audiology Exam: Every child suspected of autism must have a hearing test. A child who cannot hear well will not respond to their name or develop speech, mimicking autism perfectly.
  • Vision Screening: We check for visual impairments that might prevent eye contact or tracking.

Lead Screening: We check blood lead levels, as lead poisoning can cause developmental delays and behavioral changes.

Genetic and Metabolic Testing

Genetic and Metabolic Testing

While genes play a huge role in ASD, there is no “autism gene.” However, there are genetic syndromes associated with autism. Identifying them helps us understand the child’s future medical needs.

  • Chromosomal Microarray (CMA): This blood test looks for missing or extra pieces of DNA (copy number variations). It is the first-tier genetic test for ASD.
  • Fragile X Testing: Fragile X Syndrome is the most common inherited cause of intellectual disability and autism. We test for this to provide genetic counseling for the family.

Metabolic Screening: If a child has seizures or regression (loss of skills), we check for metabolic disorders that affect how the body produces energy.

How to Prepare for the Evaluation

An autism evaluation can be long and emotional. Preparation helps it go smoothly.

  • Bring Records: Bring all previous speech or occupational therapy reports and school evaluations.
  • Videos: Children often behave differently in a doctor’s office. Bring short videos on your phone showing the behaviors that concern you at home (like hand flapping or tantrums).

Comfort: Bring snacks and favorite toys. A hungry or tired child will not perform well, which can skew the results.

Understanding Your Test Results

Understanding Your Test Results

If a diagnosis is made, the doctor will classify it by Level of Support (Level 1, 2, or 3) based on the DSM-5 criteria.

  • Level 1: Requires support. The child can speak but struggles with social back-and-forth.
  • Level 2: Requires substantial support. The child has marked deficits in verbal and nonverbal skills and inflexible behavior.

Level 3: Requires very substantial support. The child may be non-verbal and experience extreme distress with change. The doctor will also specify if there is an accompanying intellectual impairment or language impairment.

When Do You Need Advanced Imaging?

Parents often ask for an MRI. In routine autism cases, an MRI is not necessary. An MRI shows brain structure (anatomy), not brain function (behavior). Children with autism usually have normal-looking MRIs. We only order advanced imaging like MRI or EEG (brain wave test) if there are “red flags” for other conditions, such as:

  • Seizures or staring spells.
  • Significant head size differences (macrocephaly or microcephaly).
  • Asymmetric movements (using only one hand).
  • Severe regression (loss of skills) after age 3.

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FREQUENTLY ASKED QUESTIONS

What tests are used to diagnose autism?

There is no medical test, like a blood draw, for autism itself. Diagnosis uses behavioral assessments. The ADOS-2 (a play-based observation) and ADI-R (a parent interview) are considered the gold standards. Doctors also use developmental history and questionnaires like the M-CHAT.

Ensure your child is well-rested and fed. Bring their glasses or hearing aids if they use them. It is helpful to bring videos of your child’s behavior at home, as they might not show specific repetitive behaviors (like spinning or flapping) during the short office visit.

Genetic testing involves a blood draw, which involves a momentary pinch. While seeing a child cry is hard, the test itself is quick. Finding a genetic cause can be crucial for understanding future health risks and family planning, making the momentary discomfort worthwhile.

When performed by a specialist using the ADOS-2 and DSM-5 criteria, the diagnosis is very reliable and stable, especially for children over age 2. Screening tools like the M-CHAT are less accurate and can have false positives, which is why a full evaluation is always needed to confirm.

You typically do not need an MRI for an autism diagnosis. Imaging is only used if the child has symptoms suggesting a neurological problem other than autism, such as seizures, distinct facial features suggesting a syndrome, or a very large or small head size.

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