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Cited by 258Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

Essential versus complex autism: definition of fundamental prognostic subtypes

Miles, J.H., Takahashi, T.N., Bagby, S., Sahota, P.K., Vaslow, D.F., Wang, C.H., Hillman, R.E., Farmer, J.E.·2005·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.30590
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Abstract

Heterogeneity within the autism diagnosis obscures the genetic basis of the disorder and impedes our ability to develop effective treatments. We found that by using two readily available tests, autism can be divided into two subgroups, “essential autism” and “complex autism,” with different outcomes and recurrence risks. Complex autism consists of individuals in whom there is evidence of some abnormality of early morphogenesis, manifested by either significant dysmorphology or microcephaly. The remainder have “essential autism.” From 1995 to 2001, 260 individuals who met DSM‐IV criteria for autistic disorder were examined. Five percent (13/260) were microcephalic and 16% (41/260) had significant physical anomalies. Individually, each trait predicted a poorer outcome. Together they define the “complex autism” subgroup, comprising 20% (46/233) of the total autism population. Individuals with complex autism have lower IQs (P = 0.006), more seizures (P = 0.0008), more abnormal EEGs (46% vs. 30%), more brain abnormalities by MRI (28% vs. 13%). Everyone with an identifiable syndrome was in the complex group. Essential autism defines the more heritable group with higher sib recurrence (4% vs. 0%), more relatives with autism (20% vs. 9%), and higher male to female ratio (6.5:1 vs. 3.2:1). Their outcome was better with higher IQs (P = 0.02) and fewer seizures (P = 0.0008). They were more apt to develop autism with a regressive onset (43% vs. 23%, P = 0.02). Analysis of the features predictive of poor outcome (IQ < 55, functionally non‐verbal) showed that microcephaly was 100% specific but only 14% sensitive; the presence of physical anomalies was 86% specific and 34% sensitive. The two tests combined yielded 87% specificity, 47% sensitivity, and an odds ratio of 4.8:1 for poor outcome. Separating essential from complex autism should be the first diagnostic step for children with autism spectrum disorders as it allows better prognostication and counseling. Definition of more homogeneous populations should increase power of research analyses. © 2005 Wiley‐Liss, Inc.

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Authors
Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., Vaslow, D. F., Wang, C. H., Hillman, R. E., & Farmer, J. E.
Affiliations
University of Missouri (US)
Corresponding author
Miles, J.H.
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2005-05-10
Volume
135A
Issue
2
Pages
171-180
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.30590
OpenAlex
W2157460679
Cited by
258
References
93
Citations by year
2026: 2 · 2025: 3 · 2024: 7 · 2023: 6 · 2022: 20 · 2021: 13 · 2020: 14 · 2019: 15 · 2018: 7 · 2017: 23 · 2016: 10 · 2015: 10 · 2014: 19 · 2013: 14 · 2012: 9
FWCI
5.37
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords
autism spectrum disorder, autism subtypes, prognosis, recurrence risk, microcephaly, dysmorphology, intellectual disability, seizures, EEG abnormalities, regressive autism, heritability, diagnostic classification, genetic heterogeneity
MeSH terms
Adolescent, Adult, Autistic Disorder, Brain, Child, Child, Preschool, Family Health, Female, Humans, Infant, Intelligence, Intelligence Tests, Language Disorders, Magnetic Resonance Imaging, Male, Middle Aged, Prognosis, Radiography, Logistic Models

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