A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
Stuart K Shapira, Lin H Tian, Arthur S Aylsworth and 9 others
PMID 30783897WHAT IT FOUND
In children with ASD, 17.1% were classified as having many dysmorphic physical features, compared with 4.6% of population controls.
The difference remained after excluding known genetic disorders and major birth defects.
Key findings
01Children with ASD were classified as Dysmorphic more often than population controls: 17.1% versus 4.6%.
02After excluding children with reported genetic disorders and major morphologic anomalies, 12.6% of children with ASD were classified as Dysmorphic, compared with 4.3% of controls.
03Among children with ASD, 21.6% of those classified as Dysmorphic had a reported genetic disorder, compared with 2.2% of those classified as Non-dysmorphic.
STILL TO COME
How it was doneWhat they found
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What it does not show
Many families identified for possible inclusion could not be located or contacted, although the authors thought this probably reflected eligibility rather than dysmorphology or genetic disorders. The dysmorphology assessment was a research examination, not a clinical exam, and it could not be used for genetic diagnosis. SEED did not include a comprehensive systematic genetic evaluation, so reported genetic disorders were likely underestimates. ASD and control groups were not matched, and potential unmeasured confounding could not be entirely dismissed. Children were assessed at a young age, from 34 to 84 months, so milder ASD may be underrepresented and the results should not be generalized to older children and adults. Some physical features were difficult to review from photographs, and this led to missing data, although sensitivity analyses and multiple imputation showed no significant effect of missing data on the observed results.
Declared interests
The authors declared no conflicts of interest.
The easy way to misread this
Do not use the Dysmorphic classification as a clinical diagnosis or genetic test. It was a research classification of physical features, and the SEED dysmorphology assessment was not a clinical exam and could not be used for genetic diagnosis.