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Quantitative Assessment of Cortical Auditory-tactile Processing in Children with Disabilities
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Abnormal Auditory Processing and Underlying Structural Changes in 22q11.2 Deletion Syndrome.

Lucia-Manuela Cantonas1, Valentina Mancini2, Tonia A Rihs1

  • 1Functional Brain Mapping Laboratory, Department of Basic Neuroscience, University of Geneva, Geneva, Switzerland.

Schizophrenia Bulletin
|August 5, 2020
PubMed
Summary
This summary is machine-generated.

Individuals with 22q11.2 deletion syndrome (22q11.2 DS) show reduced auditory mismatch negativity (MMN) responses and altered auditory brain structures. These findings suggest MMN may indicate functional changes linked to psychosis risk.

Keywords:
DiGeorge Syndromeauditory processinghallucinationsmedial geniculate volume reductionpsychosis

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • 22q11.2 deletion syndrome (22q11.2 DS) is a significant genetic risk factor for schizophrenia.
  • Reduced auditory mismatch negativity (MMN) is linked to sensory processing deficits in schizophrenia.
  • The neurobiological underpinnings of MMN alterations in 22q11.2 DS are not well understood.

Purpose of the Study:

  • To investigate the relationship between MMN response and auditory brain structure in individuals with 22q11.2 DS.
  • To explore neurobiological differences in 22q11.2 DS carriers compared to typically developing individuals.
  • To examine the influence of hallucinations on MMN and brain structure in 22q11.2 DS.

Main Methods:

  • High-density electroencephalogram (EEG) was used to measure MMN responses to auditory stimuli.
  • Structural magnetic resonance imaging (MRI) provided volumetric estimates of auditory cortical and thalamic areas.
  • 130 participants (70 with 22q11.2 DS, 60 typically developing) were included.

Main Results:

  • 22q11.2 DS carriers exhibited reduced MMN, altered MMN topography, and decreased gray matter volume in auditory areas compared to controls.
  • No significant correlation was found between MMN alterations and structural brain changes.
  • Hallucination status in 22q11.2 DS did not affect MMN, but hallucination-positive individuals showed reduced superior temporal gyrus and medial geniculate volume.

Conclusions:

  • MMN may serve as a neurophysiological marker for functional auditory pathway changes associated with psychosis risk in 22q11.2 DS.
  • Structural auditory brain abnormalities are present in 22q11.2 DS, but their direct link to MMN deficits requires further investigation.
  • Specific auditory regions are affected in 22q11.2 DS individuals experiencing hallucinations, suggesting distinct neurobiological pathways.