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Why autism is still missed: comorbidity and diagnostic overshadowing

Why autism is still missed: comorbidity and diagnostic overshadowing

NeuroDifferent Research Digest

Contents

In one sentence

A narrative review argues that autism is still missed or delayed in some people — especially girls and women, people with strong cognitive skills, and ethnic minorities — because screening and diagnostic pathways were built largely around white male presentations and can be thrown off by co-occurring conditions.

What the researchers did

The authors published a narrative review in 2025, searching databases on autism screening and diagnosis with special attention to the Autism Diagnostic Observation Schedule (ADOS-2). They summarised more than 50 mostly recent articles on under-identification, wait times, tool performance, and diagnostic overshadowing (when another condition’s label hides autism).

What they found

  • U.S. estimates for 8-year-olds rose from about 1 in 44 (2022 reporting) to 1 in 36 (2023 reporting) in the sources they cite.
  • Many services report long waits: 61% of organisations cited waits over four months; 15% over a year.
  • The M-CHAT screen can miss many children in the figures they summarise (sensitivity about 33–39%; positive predictive value about 15–18% in cited work).
  • Girls, children with higher measured cognitive ability, ethnic minorities, children in poverty, and rural families face higher risk of late or missed recognition.
  • ADOS-2 is often treated as a gold-standard observational tool; the review notes limited item-level gender/race differences in one study and still urges caution about who tools were validated on.

What this means for families and therapists

  • A negative brief screen does not rule autism out — especially for girls, camouflaging presentations, or strong verbal skills.
  • Ask for a fuller developmental assessment when concerns persist, and name overlapping conditions (ADHD, anxiety, language differences) so they do not “explain away” autism.
  • Rural and minority families may need proactive advocacy for wait-list navigation, telehealth, or second opinions.

Limitations and what we don't know yet

  • Narrative review, not a new trial or meta-analysis.
  • Evidence base skewed toward U.S. and English-language literature.
  • Some tool-specific claims rest on single studies.
  • The paper highlights problems more than it tests new solutions.

This is a plain-language summary of Rethinking psychometric testing in autism: overcoming the challenges of comorbidity and diagnostic overshadowing by Gupta N., Srinivasan S., Gupta M., CNS Spectrums (2025). Source license: CC-BY-4.0. It is not medical advice — talk to a qualified clinician before changing therapy.

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