Doctoral thesis
Open access

The underlying mechanisms of mismatch negativity response in 22q11.2 deletion syndrome

Defense date2020-11-24

The 22q11.2 Deletion Syndrome (22q11.2 DS), one of the highest genetic risk for the development of schizophrenia, offers a unique opportunity to understand neurobiological and functional changes preceding the onset of the psychotic illness. In the search for biomarkers, the altered auditory function, such as reduced auditory mismatch negativity has been proposed as a reliable marker for schizophrenia. To explore the general pattern of auditory sensory processing and its underlying mechanisms, two studies were designed hypothesising schizophrenia-like functional auditory abnormalities in 22q11.2DS. Interestingly, we observe abnormal development of auditory functioning from childhood to adolescence in non-psychotic 22q11.2 deletion carriers as compared to typically developing individuals that is not associated with lower IQ or psychotic symptoms and is unrelated to structural changes measured along the auditory pathways. Therefore, our results might reveal impaired auditory emotion recognition, a key feature of social cognition, and abnormal neuromodulation of bottom-up op-down information processing.

  • 22q11.2 Deletion Syndrome
  • Auditory processing
  • Psychosis
  • Auditory mismach negativity response
NoteDiplôme commun des univ. de Genève et Lausanne. Thèse de doctorat des Universités de Genève et Lausanne
  • Swiss National Science Foundation - The Synaptic Bases of Mental Diseases grant number 51NF40 – 185897 to Professor Christoph Michel.
Citation (ISO format)
CANTONAS, Lucia-Manuela. The underlying mechanisms of mismatch negativity response in 22q11.2 deletion syndrome. 2020. doi: 10.13097/archive-ouverte/unige:149673
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