Neuropsychological Characteristics of Children With the 22q11 Deletion Syndrome: A Descriptive Analysis

Sobin, Christina; Kiley-Brabeck, Karen; Daniels, Sarah; Khuri, Jananne; Taylor, Lisa; Blundell, Maude L.; Anyane‐Yeboa, Kwame; Karayiorgou, Maria

doi:10.1080/09297040590911167

Cited by 79 publications

(89 citation statements)

References 25 publications

(23 reference statements)

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“…However, cognitive and neuropsychological testing of this study group revealed extremely broad subtest score scatter for each child tested on both IQ and neuropsychological batteries, invalidating the calculation and use of composite IQ scores for this group (13). Selection of a single subtest score would have been arbitrary, and we did not attempt to conceptualize an IQ estimation for these subjects.…”

Section: Limitationsmentioning

confidence: 99%

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Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

Sobin¹,

Kiley-Brabeck²,

Karayiorgou³

2005

AJP

Self Cite

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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Section: Limitationsmentioning

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.…”

mentioning

confidence: 99%

Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

Sobin¹,

Kiley-Brabeck²,

Karayiorgou³

2005

AJP

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100

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“…Some of the cognitive abnormalities observed in patients with 22q11DS are thought to originate in the prefrontal cortex and hippocampus including deficits in attention, working memory, executive function and short-term verbal memory [74][75][76] . Approximately 25% of 22q11DS patients suffer from schizophrenia or schizoaf- [77][78][79] .…”

Section: Q11mentioning

confidence: 99%

Estudos traducionais de neuropsiquiatria e esquizofrenia: modelos animais genéticos e de neurodesenvolvimento

Gottschalk

Sarnyai

Guest

et al. 2012

Arch. Clin. Psychiatry (São Paulo)

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Psychiatric symptoms are subjective by nature and tend to overlap between different disorders. The modelling of a neuropsychiatric disorder therefore faces challenges because of missing knowledge of the fundamental pathophysiology and a lack of accurate diagnostics. Animal models are used to test hypotheses of aetiology and to represent the human condition as close as possible to increase our understanding of the disease and to evaluate new targets for drug discovery. In this review, genetic and neurodevelopmental animal models of schizophrenia are discussed with respect to behavioural and neurophysiological findings and their association with the clinical condition. Only specific animal models of schizophrenia may ultimately lead to novel diagnostic approaches and drug discovery. We argue that molecular biomarkers are important to improve animal to human translation since behavioural readouts lack the necessary specificity and reliability to assess human psychiatric symptoms.Gottschalk MG, et al. / Rev Psiq Clín. 2013;40(1):41-50 Keywords: Translational research, neuropsychiatry, genetic, neurodevelopment, animal model, schizophrenia. ResumoSintomas psiquiátricos são subjetivos por natureza e tendem a se sobrepor entre diferentes desordens. Sendo assim, a criação de modelos de uma desordem neuropsiquiátrica encontra desafios pela falta de conhecimento dos fundamentos da fisiopatologia e diagnósticos precisos. Modelos animais são usados para testar hipóteses de etiologia e para representar a condição humana tão próximo quanto possível para aumentar nosso entendimento da doença e avaliar novos alvos para a descoberta de drogas. Nesta revisão, modelos animais genéticos e de neurodesenvolvimento de esquizofrenia são discutidos com respeito a achados comportamentais e neurofisiológicos e sua associação com a condição clínica. Somente modelos animais específicos de esquizofrenia podem, em último caso, levar a novas abordagens diagnósticas e descoberta de drogas. Argumentamos que biomarcadores moleculares são importantes para aumentar a tradução de animais a humanos, já que faltam a especificidade e a fidelidade necessárias às leituras comportamentais para avaliar sintomas psiquiátricos humanos.Gottschalk MG, et al. / Rev Psiq Clín. 2013;40(1):41-50

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“…Neuropsychological test results suggested that the primary deficits among children with 22q11DS were likely to include attention, executive function, [6][7][8] and motor behavior, 7 three functional domains that are linked in the brain. Performance of children with 22q11DS on tasks that tapped more specific brain pathways within these relatively broad functional regions have helped to substantiate these initial findings.…”

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confidence: 99%

Associations between prepulse inhibition and executive visual attention in children with the 22q11 deletion syndrome

2004

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The 22q11 deletion syndrome (DS) results in the loss of approximately 30 gene copies and is associated with possible physical anomalies, varied learning disabilities, and a specific cluster of neurocognitive deficits, including primary impairment in working memory, executive visual attention, and sensorimotor processing. Retrospective studies have suggested that children with 22q11DS are at 25 times greater risk of developing schizophrenia, thus specification of early brain network vulnerabilities among children with 22q11DS is critical. Previously, we reported that children with 22q11DS as compared with sibling controls had selective deficits in visual executive attention, and subsequently found lowered prepulse inhibition (PPI) in these same children. Visual executive attention and PPI recruit the same brain pathways linking prefrontal cortex to basal ganglia structures. To test the specificity of brain pathway vulnerability among children with 22q11DS, we examined visual executive attention and PPI paradigm data collected during the same test session from 21 children with 22q11DS and 25 sibling controls. We predicted lower %PPI and less efficient executive attention scores, and a significant inverse correlation between measures. %PPI in children with 22q11DS as compared with sibling controls was 20% lower, and visual executive attention efficiency scores 40% worse. As predicted, %PPI was inversely correlated only with executive attention efficiency scores. The implications of these findings with regard to brain pathway vulnerability in children with 22q11DS are considered. These results suggest that children with 22q11DS have early functional abnormality in pathways linking the prefrontal cortex and basal ganglia. Molecular Psychiatry (2005) 10, 553-562.

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Neuropsychological Characteristics of Children With the 22q11 Deletion Syndrome: A Descriptive Analysis

Cited by 79 publications

References 25 publications

Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

Estudos traducionais de neuropsiquiatria e esquizofrenia: modelos animais genéticos e de neurodesenvolvimento

Associations between prepulse inhibition and executive visual attention in children with the 22q11 deletion syndrome

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