Disrupted working memory circuitry and psychotic symptoms in 22q11.2 deletion syndrome.

[22q11.2 deletion syndrome]

22 q 11 .2 deletion syndrome (22 q 11 DS ) is a recurrent genetic mutation that is highly penetrant for psychosis . Behavioral research suggests that 22 q 11 DS patients exhibit a characteristic neurocognitive phenotype that includes differential impairment in spatial working memory (WM ). Notably , spatial WM has also been proposed as an endophenotype for idiopathic psychotic disorder , yet little is known about the neurobiological substrates of WM in 22 q 11 DS . In order to investigate the neural systems engaged during spatial WM in 22 q 11 DS patients , we collected functional magnetic resonance imaging (fMRI ) data while 41 participants (16 22 q 11 DS patients , 25 demographically matched controls ) performed a spatial capacity WM task that included manipulations of delay length and load level . Relative to controls , 22 q 11 DS patients showed reduced neural activation during task performance in the intraparietal sulcus (IPS ) and superior frontal sulcus (SFS ). In addition , the typical increases in neural activity within spatial WM-relevant regions with greater memory load were not observed in 22 q 11 DS . We further investigated whether neural dysfunction during WM was associated with behavioral WM performance , assessed via the University of Maryland letter-number sequencing (LNS ) task , and positive psychotic symptoms , assessed via the Structured Interview for Prodromal Syndromes (SIPS ), in 22 q 11 DS patients . WM load activity within IPS and SFS was positively correlated with LNS task performance ; moreover , WM load activity within IPS was inversely correlated with the severity of unusual thought content and delusional ideas , indicating that decreased recruitment of working memory-associated neural circuitry is associated with more severe positive symptoms . These results suggest that 22 q 11 DS patients show reduced neural recruitment of brain regions critical for spatial WM function , which may be related to characteristic behavioral manifestations of the disorder .

Diseases
Validation

Diseases presenting "the typical increases in neural activity within spatial wm-relevant regions with greater memory load" symptom

22q11.2 deletion syndrome

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