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Visual processing deficits in 22q11.2 Deletion Syndrome.

Marjan Biria1, Miralena I Tomescu1, Anna Custo2

  • 1Functional Brain Mapping Laboratory, Department of Fundamental Neuroscience, University Medical School, University of Geneva, Geneva, Switzerland.

Neuroimage. Clinical
|March 13, 2018
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Summary
This summary is machine-generated.

Individuals with 22q11.2 Deletion Syndrome (DS) show early visual processing deficits, similar to schizophrenia. However, increased brain responses to illusory contours later on may indicate reduced psychosis risk in 22q11.2DS patients.

Keywords:
22q11.2 Deletion SyndromeBiomarkersHigh-density EEGIllusory contoursProdromal symptomsSchizophrenia

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • 22q11.2 Deletion Syndrome (DS) is linked to schizophrenia risk and presents with psychiatric symptoms.
  • Visual processing deficits are known in schizophrenia but less studied in 22q11.2DS.
  • Understanding visual processing in 22q11.2DS can offer insights into psychosis risk.

Purpose of the Study:

  • To investigate visual processing differences in 22q11.2DS using high-density EEG.
  • To compare visual evoked components between 22q11.2DS participants and healthy controls.
  • To explore the relationship between visual processing and psychiatric symptoms in 22q11.2DS.

Main Methods:

  • High-density electroencephalography (EEG) and source imaging were employed.
  • An illusory contour discrimination task was administered.
  • 25 participants with 22q11.2DS and 26 healthy controls were studied.

Main Results:

  • Reduced early visual processing amplitudes and source activations in dorsal and ventral visual streams were observed in 22q11.2DS.
  • An increase in global amplitudes during a later visual completion window (240-285 ms) was found in 22q11.2DS.
  • Increased amplitudes for illusory contours in this later window inversely correlated with positive prodromal symptoms.

Conclusions:

  • Early visual processing impairments in 22q11.2DS mirror those in schizophrenia.
  • Enhanced brain responses to illusory contours in later visual processing stages may be associated with reduced psychosis risk in 22q11.2DS.
  • These findings highlight distinct visual processing patterns in 22q11.2DS and their potential link to schizophrenia prodrome.