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 @entity2438 parent research organizations to review research data on screening and diagnosis of @entity72 . 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 @entity2438 unequivocally from other @entity717 . In the interim, research on @entity1 screening and diagnosis might lower the threshold age for diagnosis to 8-12 months. The role of @entity3481 in early diagnosis needs further research. Earlier and better diagnosis of co-occurring, potentially treatable disorders, including @entity302 and @entity302 , 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.

Research on screening and diagnosis in XXXX : a work in progress.

@entity1 :: ('9606', 'Species') :: ['infant'] @entity2438 :: ('MESH:D001321', 'Disease') :: ['autism'] @entity3481 :: ('MESH:D015417', 'Disease') :: ['sensory-motor disorders'] @entity72 :: ('MESH:D002659', 'Disease') :: ['autism spectrum disorders'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epileptic', 'epileptiform disorders'] @entity717 :: ('MESH:D009069', 'Disease') :: ['developmental disabilities']
@entity2438 :: (MESH:D001321,Disease) :: ['autism']
