Research on screening and diagnosis in autism: a work in progress.
A 1999 NIH wish list still shapes autism assessment today, and later studies have filled some gaps while leaving others open.
01Research in Context
What this study did
A 1998 NIH panel wrote a wish list. They asked for better autism screening tools and biological markers.
The paper is a narrative review, not a new experiment. It lists gaps that still needed research.
What they found
The panel found two big holes. First, no test could reliably spot autism before 12 months. Second, no lab marker was ready for clinic use.
They said every tool needed field-testing in real-world settings.
How this fits with other research
Courchesne et al. (2019) answered the IQ-testing gap. They showed strength-based tests help minimally-verbal preschoolers finish testing and reveal truer scores.
Shahrokhi et al. (2025) built a 1,120-child registry in Iran. This large field sample is exactly the kind the 1999 panel asked for.
McGlade et al. (2023) looked at very early intervention trials started after 1999. They found no clear gain on core autism signs by age 3, showing the screening wish list did not yet lead to strong toddler treatments.
Why it matters
The 1999 roadmap still guides your intake process. Use strength-based cognitive tests for young or non-speaking clients, as later work shows they work better. Keep screening early, but know toddler interventions may not show quick payoff. Track new registry data to see which tools hold up across cultures.
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02At a glance
03Original abstract
In June 1998, the National Institutes of Health Autism Coordinating Committee (NIH/ACC) invited representatives of 13 major medical and other professional academies and associations and six national autism parent research organizations to review research data on screening and diagnosis of autism spectrum disorders. Ten review papers and more than 4,000 publications were consulted in this effort. This paper highlights some promising areas for research identified in this process. One of the highest priorities is the search for the ultimate diagnostic indicator, a biological marker(s), for example, genetic, metabolic, immunologic, neurologic, that will distinguish autism unequivocally from other developmental disabilities. In the interim, research on infant screening and diagnosis might lower the threshold age for diagnosis to 8-12 months. The role of sensory-motor disorders in early diagnosis needs further research. Earlier and better diagnosis of co-occurring, potentially treatable disorders, including epileptic and epileptiform disorders, has implications both for diagnosis and treatment. Pharmacogenetic and pharmacogenomic research strategies could help diagnose subtypes and responders versus nonresponders to potential treatments. Better endpoints and outcome measures are needed, including improved procedures for cognitive and neuropsychological testing, more knowledge about verbal and nonverbal communication milestones, and less invasive and more sensitive neuroimaging measures. Critical questions remain regarding regression after apparently normal development, and about possible environmental precipitants. Finally, field trials of the reliability and validity of screening and diagnosis using the newly developed practice guidelines are needed.
Journal of autism and developmental disorders, 1999 · doi:10.1023/a:1021991718423