Doc-mobility fellowship project

3.5 Further directions


3.5 Further directions

The auditory processing impairments we measure in 22q11.2 DS might be promoted by two main effects: local subtle structural and molecular brain alterations, and abnormal functional integration between the auditory brain areas. In this view, the future work should explore the link between cortical changes, functional connectivity, glutamate dysfunction and the

variability of the mismatch negativity response across ages in the 22q11.2 DS population with respect to the severity of social cognition symptoms.

3.6 Conclusion

In conclusion, we observe auditory neurophysiological abnormalities, namely reduced MMN response, in non-psychotic 22q11.2 deletion carriers that are not present in typically

developing individuals. Additionally, the deletion carriers additionally show increased N1 and reduced P300 responses, suggesting a pattern of abnormal auditory processing that might underly altered neuromodulation and might be specific to this clinical population rather than following the abnormal auditory pattern measured in patients with schizophrenia.

The reduced MMN might be explained by impaired prediction error rising from abnormal repetition suppression and by altered functional integration of the bottom-up\top-down interactions, being unrelated to the structural changes measured along the auditory pathway.

Further, MMN reduction is not related to lower IQ or to psychotic symptom, and thus

impaired auditory pitch procession might underly altered auditory emotion recognition, a key feature of social cognition.

These findings highlight that reduced MMN response is a promising index of abnormal auditory sensory processing that can add value to clinical assessments when aiming to verify the functional integrity of auditory pathways in 22q11.2 DS.


Appendix A













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