ArticleNeuroImage. Clinical2014
Disrupted working memory circuitry and psychotic symptoms in 22q11.2 deletion syndrome.
Article in NeuroImage. Clinical, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Correspondence between BOLD fMRI task response and cerebrovascular reactivity across the cerebral cortex.Frontiers in physiology · 2023Article
- From Learning to Memory: A Comparison Between Verbal and Non-verbal Skills in 22q11.2 Deletion Syndrome.Frontiers in psychiatry · 2021Article
- White matter microstructural deficits in 22q11.2 deletion syndrome.Psychiatry research. Neuroimaging · 2017Article
- Multimodal investigation of triple network connectivity in patients with 22q11DS and association with executive functions.Human brain mapping · 2017Article
- Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology.Journal of autism and developmental disorders · 2017Article
- A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?Frontiers in pediatrics · 2017Article
- Spatial working memory in neurofibromatosis 1: Altered neural activity and functional connectivity.NeuroImage. Clinical · 2017Article
- Multimodal MRI reveals structural connectivity differences in 22q11 deletion syndrome related to impaired spatial working memory.Human brain mapping · 2016Article
- Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.Brain and cognition · 2016Article
- A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I.Annals of clinical and translational neurology · 2016Article
- The Danish 22q11 research initiative.BMC psychiatry · 2015Article
- Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.Progress in neurobiology · 2015Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
22q11.2 deletion syndrome (22q11DS) is a recurrent genetic mutation that is highly penetrant for psychosis. Behavioral research suggests that 22q11DS 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 22q11DS. In order to investigate the neural systems engaged during spatial WM in 22q11DS patients, we collected functional magnetic resonance imaging (fMRI) data while 41 participants (16 22q11DS patients, 25 demographically matched controls) performed a spatial capacity WM task that included manipulations of delay length and load level. Relative to controls, 22q11DS 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 22q11DS. 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 22q11DS 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 22q11DS patients show reduced neural recruitment of brain regions critical for spatial WM function, which may be related to characteristic behavioral manifestations of the disorder.
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