Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.
First-trimester ultrasounds may worsen autism traits in boys who already carry a CNV, so clinicians should advise against non-medical scans.
01Research in Context
What this study did
Webb et al. (2017) looked back at medical charts of boys with autism who also carry a copy-number variant (CNV).
They compared boys who had a first-trimester ultrasound with boys who did not.
The team asked: does ultrasound plus a CNV make autism traits stronger?
What they found
The boys with both CNVs and early ultrasound had lower non-verbal IQ scores.
They also showed more repetitive behaviors than the boys without ultrasound.
The study hints that extra scans may add risk for kids who already carry genetic risk.
How this fits with other research
de Leeuw et al. (2024) widen the picture. They show that 16p11.2 CNVs alone bring social and behavior problems at school age.
Smith et al. (2022) add that these same kids also have big sensory issues.
Together the three papers build a chain: CNVs set the stage, ultrasound may turn up the volume, and the result shows up in IQ, repetition, and senses.
Green Snyder et al. (2016) calm one fear. Only one in five kids with a 16p11.2 duplication ever gets an ASD label, so the outcome is still wide open.
Why it matters
When you meet a family with a known CNV, urge them to skip keepsake ultrasound photos in early pregnancy. Note the child’s non-verbal skills and repetitive actions on your intake. If scores dip, add visual supports and structured play early. You cannot change genes, but you can push for fewer scans and faster therapy.
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02At a glance
03Original abstract
Current research suggests that incidence and heterogeneity of autism spectrum disorder (ASD) symptoms may arise through a variety of exogenous and/or endogenous factors. While subject to routine clinical practice and generally considered safe, there exists speculation, though no human data, that diagnostic ultrasound may also contribute to ASD severity, supported by experimental evidence that exposure to ultrasound early in gestation could perturb brain development and alter behavior. Here we explored a modified triple hit hypothesis [Williams & Casanova, ] to assay for a possible relationship between the severity of ASD symptoms and (1) ultrasound exposure (2) during the first trimester of pregnancy in fetuses with a (3) genetic predisposition to ASD. We did so using retrospective analysis of data from the SSC (Simon's Simplex Collection) autism genetic repository funded by the Simons Foundation Autism Research Initiative. We found that male children with ASD, copy number variations (CNVs), and exposure to first trimester ultrasound had significantly decreased non-verbal IQ and increased repetitive behaviors relative to male children with ASD, with CNVs, and no ultrasound. These data suggest that heterogeneity in ASD symptoms may result, at least in part, from exposure to diagnostic ultrasound during early prenatal development of children with specific genetic vulnerabilities. These results also add weight to on-going concerns expressed by the FDA about non-medical use of diagnostic ultrasound during pregnancy. Autism Res 2017, 10: 472-484. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Autism research : official journal of the International Society for Autism Research, 2017 · doi:10.1016/j.cell.2012.03.028