Atypical processing of tones and phonemes in Rett Syndrome as biomarkers of disease progression

This study investigated early auditory cortical processing of pure tones and phonemes in females with Rett Syndrome (RTT) using high-density auditory evoked potentials (AEP). Comparing AEPs of 12 females with RTT to 21 typically developing (TD) peers (aged 4–21 years), researchers analyzed the P1, N1, P2, and N2 components. RTT participants showed atypicalities in early processing; the P1's modulation by stimulus complexity, present in TD participants, was absent in RTT. While N1 didn't differ between groups, P2 was significantly diminished in RTT regardless of stimulus complexity. The N2 was also smaller in RTT. The robust P2 difference between groups, coupled with its association with RTT symptom severity, suggests its potential as a biomarker for disease monitoring and treatment response. The reduced P2 in RTT patients mirrors findings in animal models, offering translational value.

Olga V. Sysoeva, Sophie Molholm, Aleksandra Djukic, Hans-Peter Frey, John J. Foxe