Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome

Simon, Tony J.; Wu, Zhongle; Avants, Brian B.; Zhang, Hui; Gee, James C.; Stebbins, Glenn T.

doi:10.1186/1744-9081-4-25

Cited by 51 publications

(74 citation statements)

References 29 publications

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“…Observing parietal resting-state functional dysconnectivity for the first time provides the missing link between previously reported structural alterations of parietal gray and white matter (Gothelf et al, 2008) and visuo-spatial/ arithmetic impairments in 22q11DS (Bearden et al, 2001;De Smedt et al, 2007b;Simon et al, 2008). Most probably, this altered cerebral development is sustained by cerebral structure dysmaturation, functional dysconnectivity and their interactions with developing skills in the visuo-spatial domain (Simon et al, 2005(Simon et al, , 2008.…”

Section: Discussionmentioning

confidence: 79%

“…Consistently, parietal lobe gray matter volumes are often found to be reduced in children with 22q11DS (Eliez et al, 2000;Kates et al, 2001), and a recent report suggests that gyrification in the precuneus/PCC regions is more affected in children with 22q11DS as a result of congenital heart defects associated with this deletion syndrome (Schaer et al, 2009b). Observing parietal resting-state functional dysconnectivity for the first time provides the missing link between previously reported structural alterations of parietal gray and white matter (Gothelf et al, 2008) and visuo-spatial/ arithmetic impairments in 22q11DS (Bearden et al, 2001;De Smedt et al, 2007b;Simon et al, 2008). Most probably, this altered cerebral development is sustained by cerebral structure dysmaturation, functional dysconnectivity and their interactions with developing skills in the visuo-spatial domain (Simon et al, 2005(Simon et al, , 2008.…”

Section: Discussionmentioning

confidence: 89%

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Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Debbané

Lazouret

Lagioia

et al. 2012

Schizophrenia Research

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Atypical functional connectivity in the maturing brains of 22q11.2 deletion syndrome (22q11DS) may contribute to the expression of early psychotic symptoms commonly reported by these youths. This study's objective was to examine functional connectivity in cerebral networks at rest (Resting-State Networks; RSNs) and their relationship to symptomatic and neuropsychological characteristics putting them at very high risk factor for developing psychosis. Twenty-seven adolescents with 22q11DS and 33 typically developing control adolescents matched for age, gender and handedness underwent an 8-minute resting state functional MRI session. RSNs identification procedure employed Independent Component Analysis (ICA). We tested for potential group differences in functional connectivity within-networks. Then, we examined relationships between network connectivity and symptomatic/neuropsychological characteristics in the 22q11DS group. A total of nine resting-state networks were identified. Between-group differences suggested both increased and decreased functional connectivity in the 22q11DS group, involving the default-mode, sensorimotor, visuo-spatial, and high level visual networks. Finally, atypical connectivity in the default-mode network, specifically within the left superior frontal gyrus region, correlated with prodromal symptom intensity and neuropsychological performances in the 22q11DS group. The results suggest that atypical functional connectivity may sustain both increased vulnerability to psychosis and characteristic cognitive impairments in 22q11DS.

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Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 89%

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Debbané

Lazouret

Lagioia

et al. 2012

Schizophrenia Research

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“…The lack of inverse correlation between FA and MD, while less common, has been reported in individuals with MCI [17], as well as in studies of patients with HIV [48] and children with 22q deletion syndrome [44]. Unfortunately, the mechanism for tissue disruption cannot be definitively determined using DTI.…”

Section: Discussionmentioning

confidence: 99%

Changes in Parahippocampal White Matter Integrity in Amnestic Mild Cognitive Impairment: A Diffusion Tensor Imaging Study

Rogalskı

Murphy

deToledo-Morrell

et al. 2009

Behavioural Neurology

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Abstract. In the present study, changes in the parahippocampal white matter (PWM), in the region that includes the perforant path, were investigated, in vivo, in 14 individuals with amnestic mild cognitive impairment (aMCI) compared to 14 elderly controls with no cognitive impairment (NCI). For this purpose, (1) volumetry; (2) diffusion tensor imaging (DTI) derived measures of mean diffusivity (MD) and fractional anisotropy (FA); and (3) tractography were used. In addition, regression models were utilized to examine the association of PWM measurements with memory decline. The results from this study confirm previous findings in our laboratory and others, showing that compared to controls, individuals with aMCI have PWM volume loss. In addition to volume reduction, participants with aMCI demonstrated a significant increase in MD, but no difference in FA, both in the PWM region and in fibers modeled to pass through the PWM region. Further, the DTI metric of MD was associated with declarative memory performance, suggesting it may be a sensitive marker for memory dysfunction. These results indicate that there is general tissue loss and degradation (decreased volume; increased MD) in individuals with aMCI compared to older people with normal cognitive function. However, the microstructural organization of remaining fibers, as determined by measures of anisotropic diffusion, is not significantly different from that of controls.

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“…Although these discriminative connections were widespread, functional connectivity of the frontal lobe played an important role in classification. Several studies using DTI have already identified a widespread alteration of the structural brain network in 22q11DS (Barnea-Goraly et al 2003;Simon et al 2005;Sundram et al 2010;Radoeva et al 2012) that also affect tracts originating from the frontal lobe (Simon et al 2008;Barnea-Goraly et al 2003;Radoeva et al 2012). This has been further confirmed by a recent tractographic study showing alterations in the number of reconstructed fibers in several brain lobes, including the frontal lobes (Ottet et al 2013a).…”

Section: Discriminating Patients With 22q11ds From Healthy Controlsmentioning

confidence: 99%

“…Apart from the somatic consequences of this deletion, the disorder is characterized by a high incidence of cognitive and psychiatric disabilities (Baker and Vorstman 2012), including notably a mild decrease in IQ (Antshel et al 2008a) and a high prevalence of psychotic symptoms (Baker and Skuse 2005) and schizophrenia (Murphy et al 1999). In this disorder, structural alterations of the brain networks are sustained by white matter alterations including a well described 11-16 % loss of volume (Simon et al 2005;Eliez et al 2000) and widespread microstructural defects (Sundram et al 2010;Barnea-Goraly et al 2003;da Silva et al 2011;Simon et al 2008) that have furthermore been associated to various cognitive deficiencies (Radoeva et al 2012;Barnea-Goraly et al 2005;Simon et al 2008) and psychiatric symptoms (Radoeva et al 2012) including schizotypal traits (Sundram et al 2010). The alteration of the structural wiring of the brain in 22q11DS has recently been confirmed using tractography (Ottet et al 2013a).…”

Section: Introductionmentioning

confidence: 99%

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

et al. 2014

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The clinical picture associated with 22q11.2 deletion syndrome (22q11DS) includes mild mental retardation and an increased risk of schizophrenia. While the clinical phenotype has been related to structural brain network alterations, there is only scarce information about functional connectivity in 22q11DS. However, such studies could lead to a better comprehension of the disease and reveal potential biomarkers for psychosis. A connectivity decoding approach was used to discriminate between 42 patients with 22q11DS and 41 controls using resting-state connectivity. The same method was then applied within the 22q11DS group to identify brain connectivity patterns specifically related to the presence of psychotic symptoms. An accuracy of 84 % was achieved in differentiating patients with 22q11DS from controls. The discriminative connections were widespread, but predominantly located in the bilateral frontal and right temporal lobes, and were significantly correlated to IQ. An 88 % accuracy was obtained for identification of existing psychotic symptoms within the patients group. The regions containing most discriminative connections included the anterior cingulate cortex (ACC), the left superior temporal and the right inferior frontal gyri. Functional connectivity alterations in 22q11DS affect mostly frontal and right temporal lobes and are related to the syndrome's mild mental retardation. These results also provide evidence that resting-state connectivity can potentially become a biomarker for psychosis and that ACC plays an important role in the development of psychotic symptoms.

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Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome

Cited by 51 publications

References 29 publications

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Changes in Parahippocampal White Matter Integrity in Amnestic Mild Cognitive Impairment: A Diffusion Tensor Imaging Study

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

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