OtherAutism research : official journal of the International Society for Autism Research2022

Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities.

Stephania Assimopoulos, Christopher Hammill, Darren J Fernandes and 7 others

PMID 35445787

WHAT IT FOUND

Mouse models of autism-related genetic changes showed small, inconsistent heart structure and function differences compared with normal mice.

No single cardiac pattern emerged, and the authors caution against translating the results to other genetic subtypes or autism without a known genetic cause.

Key findings

01The 16p11.2 deletion mouse group showed the most cardiac differences compared with wild-type controls, affecting 6 of 15 measures, while Arid1b and Fmr1 showed 3 of 15 each.

02Differences between the mutant groups were more numerous than differences between mutant groups and wild-type controls.

03The analysis did not find a shared pattern of cardiac similarity across the mutant groups.

STILL TO COME

How it was doneWhat they found

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What it does not show

The work was done in adult male mice, so it does not show what happens in female mice, children, or people with autism without these genetic changes. The mouse heart differs from the human heart in heart rate, pacemaker location, blood flow to the brain, and how the ventricles fill during relaxation. The study did not directly examine some heart structures often reported in human congenital heart disease, such as the atrioventricular septum, the right side of the heart, and the conduction system. The authors could not directly compare their mouse measurements with clinical human studies because designs, assessment protocols, sample sizes, and patient sex differed. The method used to compare redundancy between cardiac measures and genetic groups was not standard and needs further verification.

Declared interests

The authors declared no conflict of interest.

The easy way to misread this

Do not read these mouse findings as evidence that people with autism have a specific heart abnormality or that therapists should change care. The study used adult male mice with autism-related genetic changes, found small and inconsistent differences, and the authors caution against translating results to other genetic subtypes or autism without a known genetic cause.

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The study

Participants
9 mutant groups of 20 mice each and 21 wild-type controls
Certainty of evidence
Low

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    Stephania Assimopoulos, Christopher Hammill, Darren J Fernandes, et al. Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities. Autism research : official journal of the International Society for Autism Research. 2022.

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