The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory

Bearden, Carrie E.; Woodin, Michael; Wang, Paul P.; Moss, Edward; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Emannuel, Beverly; Cannon, Tyrone D.

doi:10.1076/jcen.23.4.447.1228

Cited by 208 publications

(183 citation statements)

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“…We also observed a correlation between genotype at marker D16Mit100 and spatial memory using a small number of strains (n ¼ 11). This finding is particularly interesting given the results of human studies reporting deficits in spatial memory in subjects with schizophrenia (Waldo et al, 2005) and the velocardiofacial syndrome (22q11 deletion syndrome) (Bearden et al, 2001). …”

Section: Discussionmentioning

confidence: 81%

Quantitative trait loci linked to thalamus and cortex gray matter volumes in BXD recombinant inbred mice

et al. 2007

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To investigate whether there are separate or shared genetic influences on the development of the thalamus and cerebral cortex, we identified quantitative trait loci (QTLs) for relevant structural volumes in BXD recombinant inbred (RI) strains of mice. In 34 BXD RI strains and two parental strains (C57BL/ 6J and DBA/2J), we measured the volumes of the entire thalamus and cortex gray matter using point counting and Cavalieri's rule. Heritability was calculated using analysis of variance (ANOVA), and QTL analysis was carried out using WebQTL (http://www.genenetwork.org). The heritability of thalamus volume was 36%, and three suggestive QTLs for thalamus volume were identified on chromosomes 10, 11 and 16. The heritability of cortical gray matter was 43%, and four suggestive QTLs for cortex gray matter volume were identified on chromosomes 2, 8, 16 and 19. The genetic correlation between thalamus and cortex gray matter volumes was 0.64. Also, a single QTL on chromosome 16 (D16Mit100) was identified for thalamus volume, cortex gray matter volume and Morris water maze search-time preference (r ¼ 0.71). These results suggest that there are separate and shared genetic influences on the development of the thalamus and cerebral cortex.

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Section: Discussionmentioning

confidence: 81%

Quantitative trait loci linked to thalamus and cortex gray matter volumes in BXD recombinant inbred mice

et al. 2007

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“…The F test for equality of variances and the KolmogorovSmirnov test (47,48) were used to examine distribution properties and normality. The one variable with unequal variances in the two groups (time of peak in pulse trials) was successfully normalized by using log 10 . Group variances of its complement variable (time of peak in prepulse trials) were not unequal, but values for this variable were also log-transformed to allow for the calculation of inhibition effects (as already described).…”

Section: Discussionmentioning

confidence: 99%

“…Marked deficits have been found in visual location memory and working memory (9,10), selective and executive visual attention (11)(12)(13), and sensorimotor functioning (13), perhaps suggesting impairment in the prefrontal cortex and in pathways linking prefrontal and subcortical regions. However, neuropsychological tests alone can lack functional specificity.…”

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confidence: 99%

Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

Sobin¹,

Kiley-Brabeck²,

Karayiorgou³

2005

AJP

100

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Objective-The 22q11 deletion syndrome is associated with a range of possible physical anomalies, probable ongoing learning disabilities, and a specific constellation of neuropsychological deficits, including impairments in selective and executive visual attention, working memory, and sensorimotor functioning. It has been estimated that 25% of the children with 22q11 deletion syndrome go on to develop schizophrenia in late adolescence or adulthood. This is of urgent concern. Specification of early brain network vulnerabilities may provide a basis for early intervention while indicating critical links between genes and severe psychiatric illness. Neuropsychological studies of children with 22q11 deletion syndrome have implicated an array of potentially aberrant brain pathways. This study was conducted to determine whether preattentive processing ("sensorimotor gating") deficits are present in this population.Method-The authors administered a test of prepulse inhibition to 25 children with 22q11 deletion syndrome and their 23 sibling comparison subjects, ages 6-13. It was predicted that the children with 22q11 deletion syndrome would have lower prepulse inhibition than the comparison subjects.Results-Prepulse inhibition in the children with 22q11 deletion syndrome (26.06%) was significantly less than that of the sibling comparison subjects (46.41%). Secondary analyses suggested that this decrement did not reflect developmental delay, and lower prepulse inhibition was associated with particular subsyndromal symptoms in some children.Conclusions-Sensorimotor gating is lower in children with 22q11 deletion syndrome. These findings may indicate specific brain circuits that are anomalous in 22q11 deletion syndrome.The 22q11 deletion syndrome results from a meiotic deletion of genetic material at the q11.2 site on chromosome 22. It occurs in 1 of every 6,000 births (1) and in over 90% of the cases is de novo (2). Associated congenital anomalies occur in some but not all children and may include heart defects, immunologic deficits, craniofacial dysmorphologies, velopharyngeal defects such as overt or submucous cleft palate, or inflammation-related pain syndromes (3). Before the identification of a single underlying deletion, the different clinical labels described a child's primary physical anomaly and included "conotruncal anomaly face syndrome" (heart defect with facial dysmorphologies), "velocardiofacial syndrome" (velopharyngeal, heart, and facial anomalies), and "DiGeorge syndrome" (immunologic insufficiency).Broadly speaking, the academic and neuropsychological profile of children with 22q11 deletion syndrome is more consistent than their physical phenotype. Gross motor, fine motor, and expressive language delays have been identified in the early years (4) and are followed by learning disabilities and academic failures, attention impairment, and behavioral anomalies in an estimated 90%-100% of the school-age children with this syndrome (5,6 NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manu...

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“…Impairments in specific cognitive domains have recently been reported. Bearden et al (2001) established that one of the primary functional impairments in DS22q11.2 is in the domain of visual-spatial processing. The pattern of impairments is likely to include the temporal domain (Debbane, Glaser, Gex-Fabry, & Eliez, 2005), as well as the numerical processing domain (Simon et al, 2005a).…”

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confidence: 99%

Domain specific attentional impairments in children with chromosome 22q11.2 deletion syndrome

Bish

Chiodo

Mattei

et al. 2007

Brain and Cognition

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One of the defining cognitive characteristics of the chromosome 22q deletion syndrome (DS22q11.2) is visuospatial processing impairments. The purpose of this study was to investigate and extend the specific attentional profile of children with this disorder using both an object-based attention task and an inhibition of return task. A group of children with the disorder was compared in these tasks with a group of age-matched typically developing children. The children with DS22q11.2 demonstrated impaired spatially based orienting which is consistent with previous findings in this group. Strikingly, the children with DS22q11.2 also demonstrated an improved ability to use objectbased cues, relative to the typically developing group. Finally, the children with DS22q11.2 demonstrated an intact inhibition of return system, however, it appears to be delayed developmentally.

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The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory

Cited by 208 publications

References 0 publications

Quantitative trait loci linked to thalamus and cortex gray matter volumes in BXD recombinant inbred mice

Quantitative trait loci linked to thalamus and cortex gray matter volumes in BXD recombinant inbred mice

Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

Domain specific attentional impairments in children with chromosome 22q11.2 deletion syndrome

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