Auditory Evoked Potentials Differ from Controls and Correlate with Aspects of Cognition in Kabuki Syndrome and Rubinstein-Taybi Syndrome

Late-phase cortical auditory evoked potentials (P2 and N2) differ from typically developing controls in Kabuki syndrome and Rubinstein-Taybi syndrome, with RSTS showing consistently larger deviations.

• Why it matters: Epigenetic treatments can reverse cognitive impairment in mouse models, but clinical trials need biomarkers that track treatment response in people with these disorders.
• What they did: Participants with Kabuki syndrome, Rubinstein-Taybi syndrome, and typically developing controls completed a standardized cognitive battery while N1-P2-N2 amplitudes were measured during passive listening to monotonal auditory stimuli.
• The result: P2 and N2 amplitudes differ significantly by group and correlate with cognition, including language (positive with P2, negative with N2) and executive functioning linked to N1 and P2.

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