Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants

Area of Science:

• Neuroscience
• Genetics
• Developmental Psychology

Background:

• Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
• Identifying reliable biomarkers for ASD is crucial for early diagnosis and intervention.
• Rare genetic mutations, such as those in DYRK1A and SCN2A genes, are associated with ASD.

Purpose of the Study:

• To investigate attention biomarkers using electroencephalography (EEG) and eye tracking.
• To compare attention profiles in individuals with DYRK1A-ASD and SCN2A-ASD against idiopathic ASD and neurotypical groups.
• To explore the alignment of auditory and visual attention markers across different ASD populations.

Main Methods:

• Utilized electroencephalography (EEG) during an auditory oddball paradigm.
• Employed eye gaze tracking during visual tasks involving social interactions.
• Compared attention metrics between monogenic ASD groups (DYRK1A, SCN2A), idiopathic ASD, and neurotypical controls.

Main Results:

• Individuals with DYRK1A-ASD showed reduced auditory attention differences.
• Individuals with SCN2A-ASD exhibited diminished visual attention differences.
• Attention marker alignment observed in idiopathic ASD and neurotypical groups, but not in monogenic ASD groups.

Conclusions:

• Attention profiles differ between monogenic ASD forms and idiopathic ASD.
• Auditory and visual attention markers may not align in individuals with DYRK1A or SCN2A mutations.
• These findings support the development of attention-based translational biomarkers for ASD.