Adult Autism Screening: Where to Start
Begin by scheduling an evaluation with a clinician specifically trained in adult autism assessment who can administer standardized diagnostic tools including the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R). 1, 2
Initial Steps Before Formal Evaluation
Find the Right Clinician
- Seek a developmental pediatrician, neurologist, child psychiatrist, or psychologist with specific training in autism assessment for adults 1, 2
- The diagnostic process requires clinicians trained in using objective, standardized criteria—not all mental health professionals have this specialized training 1
- Consider requesting a referral to a clinical genetics specialist, as they can coordinate both diagnostic evaluation and genetic testing 3, 1
Pre-Evaluation Medical Screening
Before your autism evaluation, you need two essential medical tests:
- Complete audiogram (formal hearing test): Hearing loss can mimic autism symptoms, particularly difficulties with socialization and communication 4, 1, 5
- Cognitive/psychological testing: This establishes your baseline developmental level and helps distinguish autism from other conditions 4
The Diagnostic Evaluation Process
What to Expect
The comprehensive evaluation includes:
- Standardized direct observation using ADOS (sensitivity 91%, specificity 76%) where the clinician observes your social communication and behavior patterns 2
- Structured developmental interview using ADI-R (sensitivity 80%, specificity 72%) focusing on your developmental history and current behaviors 2
- Comprehensive psychiatric evaluation to identify co-occurring conditions like depression (20% prevalence in adults with ASD vs 7% without), anxiety (11% vs 5%), and sleep difficulties (13% vs 5%) 1, 2
Common Pitfall to Avoid
Do not rely on online screening questionnaires or self-assessment tools as definitive—these are not diagnostic and the formal evaluation with trained clinicians using ADOS and ADI-R is the criterion standard 2
Genetic Evaluation (Recommended for All)
Why Genetic Testing Matters
A thorough genetic evaluation identifies an underlying cause in 30-40% of individuals with ASD, which can inform medical management and family planning 4, 1
First-Tier Genetic Tests
Your clinician should order:
- Chromosomal microarray (CMA): 10% diagnostic yield 1
- Fragile X DNA testing: 1-5% diagnostic yield 1
- High-resolution karyotype: 3% diagnostic yield 1
Second-Tier Tests (Based on Specific Features)
- MECP2 gene testing if you are female: 4% diagnostic yield 1
- PTEN gene testing if your head circumference is >2.5 standard deviations above mean: 5% diagnostic yield 1
Important: You do not need to wait for specialty referrals to order CMA and Fragile X testing—your primary care provider can order these first-tier tests immediately. 5
After Diagnosis: What Comes Next
Treatment Options
- Intensive behavioral interventions focusing on social communication skills are first-line therapy, showing small to medium effect sizes 1, 2
- Medications are reserved for co-occurring psychiatric conditions (anxiety, depression, ADHD), not for core autism features 1, 2
- Approximately 75% of individuals with ASD have comorbid psychiatric conditions that may benefit from targeted treatment 6
Genetic Counseling
All individuals with confirmed ASD should receive genetic counseling, regardless of whether a specific genetic cause is identified 1
- Full sibling recurrence risk ranges from 3-10% 1
- Risk is modified by sex: 7% if the affected individual is female, 4% if male 1
Long-Term Considerations
The diagnosis often brings relief and clarity about past experiences, impacts identity and self-esteem, and creates opportunities to connect with other autistic individuals, though appropriate adult support services remain widely lacking 7