Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.
Caitlin M Hudac, Kelsey Dommer, Monique Mahony and 10 others
PMID 39080977WHAT IT FOUND
People with DYRK1A variants showed little difference in brain response to new sounds, while people with SCN2A variants did not look more at a speaker addressing them.
The two rare genetic groups differed, but these findings do not guide therapy.
Key findings
01DYRK1A participants had less positive P3a amplitudes relative to SCN2A participants (p = 0.0001) and did not show a strong condition effect between novel and frequent sounds (p = 1.0).
02SCN2A participants were the only group that did not look more at the speaker when addressed; 4 of 5 had no condition effect, and one never looked at the speaker's head.
03Visual and auditory attention effects aligned in 36 of 49 neurotypical participants (73.4%) and 8 of 12 idiopathic ASD participants (75%), but less often in DYRK1A (3 of 8, 42.6%) and SCN2A (2 of 5, 40%) participants.
STILL TO COME
How it was doneWhat they found
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What it does not show
The rare genetic groups were very small: nine DYRK1A and five SCN2A participants, so the findings are preliminary. Some participants were excluded because eye tracking or EEG data were not usable, so the analysed groups may not represent all people with these variants. There was no comparison group matched for cognitive ability, so attention differences may reflect intellectual disability or developmental delay rather than the genetic variant itself. The eye tracking and EEG tasks measure different systems, and the authors could not separate attention effects from underlying vision or hearing processing differences. The authors state it is premature to call these ASD biomarkers because they were not associated with autism symptoms on the ADOS-2. The study did not test treatment, so it cannot tell therapists whether any intervention should be changed.
Declared interests
This work was supported by the National Institutes of Health and by the FamiliesSCN2A Foundation. One author is an investigator of the Howard Hughes Medical Institute.
The easy way to misread this
Do not treat these attention patterns as a diagnostic test for DYRK1A or SCN2A or as a reason to change therapy. The study is exploratory and included nine DYRK1A and five SCN2A participants, and the authors say it is premature to consider these specific biomarkers of ASD.