The Experts below are selected from a list of 2565 Experts worldwide ranked by ideXlab platform
Stephan Eliez - One of the best experts on this subject based on the ideXlab platform.
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investigation of white matter structure in Velocardiofacial Syndrome a diffusion tensor imaging study
American Journal of Psychiatry, 2003Co-Authors: Naama Barneagoraly, Allan L Reiss, Vinod Menon, Ben Krasnow, Alex Ko, Stephan EliezAbstract:OBJECTIVE: Velocardiofacial Syndrome, caused by a deletion on chromosome 22q11.2, is often accompanied by cognitive, behavioral, and psychiatric impairments. Specifically, Velocardiofacial Syndrome has been proposed as a disease model for a genetically mediated subtype of schizophrenia. Velocardiofacial Syndrome is also known to affect brain structure. The most prominent structural findings in Velocardiofacial Syndrome are reduced white matter volumes. However, the structure of white matter and extent of specific regional involvement in this Syndrome have never been investigated. The current study used diffusion tensor imaging to investigate white matter structure in children and young adults with Velocardiofacial Syndrome. METHOD: Nineteen participants with Velocardiofacial Syndrome and 19 age- and gender-matched comparison subjects underwent diffusion-weighted magnetic resonance imaging scans. Whole brain voxel-by-voxel analyses were conducted to investigate white matter fractional anisotropy difference...
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language skills in children with Velocardiofacial Syndrome deletion 22q11 2
The Journal of Pediatrics, 2002Co-Authors: Bronwyn Glaser, Allan L Reiss, Christine Blasey, Donna L Mumme, Michael A Morris, Sophie P Dahoun, Stylianos E Antonarakis, Stephan EliezAbstract:OBJECTIVE: To further define the language profile of children with Velocardiofacial Syndrome (VCFS) and explore the influence of parental origin of the deletion on language. STUDY DESIGN: Children and adolescents with VCFS (n = 27) were group-matched for sex, age, and IQ with 27 children and adolescents with idiopathic developmental delay. Fifty-four typically developing control subjects were also included in the analyses investigating word association abilities. RESULTS: Children with VCFS had significantly lower receptive than expressive language skills, a unique finding when compared with IQ-matched control subjects. However, no significant differences in word association were detected. Children with a deletion of paternal origin score significantly higher on receptive language when compared with children with a deletion of maternal origin. CONCLUSIONS: The Clinical Evaluation of Language Fundamentals-III results suggest that children with VCFS show more severe deficits in receptive than expressive language abilities. Language skills of children with VCFS could be influenced by parental origin of the deletion and thus related to neuroanatomic alterations at the deletion site.
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Velocardiofacial Syndrome are structural changes in the temporal and mesial temporal regions related to schizophrenia
American Journal of Psychiatry, 2001Co-Authors: Stephan Eliez, Christopher D White, Christine Blasey, Eric J Schmitt, David Hu, Allan L ReissAbstract:Objective: Velocardiofacial Syndrome results from a microdeletion on chromosome 22 (22q11.2). Clinical studies indicate that more than 30% of children with the Syndrome will develop schizophrenia. The authors sought to determine whether neuroanatomical features in Velocardiofacial Syndrome are similar to those reported in the literature on schizophrenia by measuring the volumes of the temporal lobe, superior temporal gyrus, and mesial temporal structures in children and adolescents with Velocardiofacial Syndrome. Method: Twenty-three children and adolescents with Velocardiofacial Syndrome and 23 comparison subjects, individually matched for age and gender, received brain magnetic resonance imaging (MRI) scans. Analysis of covariance models were used to compare regional brain volumes. Correlations between residualized brain volumes and age were standardized and compared with the Fisher r-to-z transformation. Results: Children with Velocardiofacial Syndrome had significantly smaller average temporal lobe, superior temporal gyrus, and hippocampal volumes than normal comparison children, although these differences were commensurate with a lower overall brain size in the affected children. In a cross-sectional analysis, children with Velocardiofacial Syndrome exhibited aberrant volumetric reductions with age that were localized to the temporal lobe and left hippocampal regions. Conclusions: Abnormal temporal lobe and hippocampal development in Velocardiofacial Syndrome is potentially concordant with MRI findings in the schizophrenia literature. Temporal lobe and mesial temporal structures may represent a shared substrate for the effects of the 22q11.2 deletion and for the complex etiological pathways that lead to schizophrenia. Longitudinal research may help determine which children with Velocardiofacial Syndrome are at risk for serious psychiatric illness in adulthood.
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functional brain imaging study of mathematical reasoning abilities in Velocardiofacial Syndrome del22q11 2
Genetics in Medicine, 2001Co-Authors: Stephan Eliez, Christopher D White, Vinod Menon, Christine Blasey, Eric J Schmitt, Allan L ReissAbstract:Purpose: Children with Velocardiofacial Syndrome (VCFS) often have deficits in mathematical reasoning. Previous research has suggested that structural abnormalities in the parietal lobe region might underlie these deficits. The present study utilized functional magnetic resonance imaging (fMRI) to explore the relationship between brain function and mathematical performance in VCFS. Methods: Eight children with VCFS and eight comparison subjects underwent fMRI scanning and completed an arithmetic computation task. Results: In the VCFS group, increased activation was observed in the left supramarginal gyrus (LSMG) as the task difficulty increased. Conclusion: Aberrant LSMG activation, possibly due to structural deficits of the left parietal lobe, may explain decrements in arithmetic performance observed in VCFS.
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the Velocardiofacial Syndrome in psychiatry
Current Opinion in Psychiatry, 2000Co-Authors: Carl Feinstein, Stephan EliezAbstract:Velocardiofacial Syndrome (VCFS) is a genetic disability Syndrome that is caused, in most cases, by a de-novo 3 Mb microdeletion at chromosome region 22q11.2. The behavioral phenotype includes characteristic developmental, cognitive, and linguistic deficits, and psychiatric disorders, including chil
Wendy R Kates - One of the best experts on this subject based on the ideXlab platform.
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comparing adhd in Velocardiofacial Syndrome to idiopathic adhd a preliminary study
Journal of Attention Disorders, 2007Co-Authors: K M Antshel, Wendy R Kates, Wanda Fremont, Stephen V Faraone, Michael C Monuteaux, Alysa E Doyle, Eric Mick, Joseph BiedermanAbstract:Objective: Background: Children with Velocardiofacial Syndrome (VCFS), a contiguous deletion Syndrome, have an increased prevalence of attention deficit/hyperactivity disorder (ADHD). Method: The authors compared youth with VCFS+ADHD (from the SUNY Upstate VCFS Research Program) to those with ADHD but not VCFS (from the Massachusetts General Hospital Longitudinal Family Studies of ADHD). Results: Children with VCFS+ADHD were more likely to be diagnosed with the inattentive subtype and differed from idiopathic ADHD in the frequency of several inattentive symptoms that appear linked to general cognitive functioning. After controlling for IQ differences, parents of children with VCFS+ADHD endorsed more thought and social problems on a rating checklist. Patterns of comorbidity also differed between the two groups of children with ADHD: Children with idiopathic ADHD had higher rates of comorbid major depression and disruptive behavior disorders. Conclusion: Children with VCFS+ADHD may have a different profile ...
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Temperament in Velocardiofacial Syndrome.
Journal of Intellectual Disability Research, 2007Co-Authors: K M Antshel, Robert J Shprintzen, K Stallone, N Abdulsabur, N Roizen, A M Higgins, Wendy R KatesAbstract:Background Velocardiofacial Syndrome (VCFS) is a microdeletion Syndrome caused by a 22q11.2 chromosomal deletion. Methods In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6–15), and age-, race- and gender-ratio matched samples of 47 community control participants (mean age = 10.4, SD = 2.6; range 6–15), and 18 sibling control participants (mean age = 12.1, SD = 1.9; range 9–15) took part in the current project. Results Children with VCFS have a temperament that may best be described as modestly difficult; while participants with VCFS were not more difficult across all temperamental domains, children with VCFS were rated by their parents as being: (1) less regular in their daily habits (e.g. eating at the same time each day, etc.); (2) less able to focus/sustain attention; (3) less cheerful/pleasant; (4) less likely to stay with an activity for a long time; and (5) less able to respond flexibly to changes in the environment. Conclusions The best predictors of parent report of behavioural symptoms in children with VCFS were poor concordance between parent and child temperament across general activity level and mood domains.
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sex differences in cognitive functioning in Velocardiofacial Syndrome vcfs
Developmental Neuropsychology, 2005Co-Authors: K M Antshel, N Abdulsabur, N Roizen, Wanda Fremont, Wendy R KatesAbstract:Sex differences in cognitive functioning were investigated in children with Velocardiofacial Syndrome (VCFS), a genetic defect caused by a microdeletion on chromosome 22q.11. The study population consisted of six groups: 50 boys with VCFS (M = 11.1, SD = 2.7), 40 girls with VCFS (M = 10.8, SD = 2.5), 13 male siblings of the participant with VCFS (M = 12.3, SD = 1.9), 17 female siblings of the participant with VCFS (M = 12.2, SD = 1.9), and a race- and gender-ratio-matched sample of 28 boy community control participants (M = 10.7, SD =2.4) and 19 girl community control participants (M = 9.2, SD =2.3). Each participant received a psychological assessment including intellectual and academic achievement as well as structural magnetic resonance imaging of his or her brain. Our results indicate that boys with VCFS may be more cognitively affected than girls. In addition, and although cross-sectional in nature, our results document a negative association between age and cognitive functioning in girls with VCFS b...
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frontal and caudate alterations in Velocardiofacial Syndrome deletion at chromosome 22q11 2
Journal of Child Neurology, 2004Co-Authors: Wendy R Kates, Courtney P Burnette, Brandy A Bessette, Bradley S Folley, Leslie Strunge, Ethylin Wang Jabs, Godfrey D PearlsonAbstract:This study investigated the morphology of the frontal lobe and the caudate nucleus in Velocardiofacial Syndrome, a neurogenetic disorder caused by a microdeletion at chromosome 22q11.2 and frequently associated with severe psychiatric disturbances. Volumes of the caudate nucleus and subregions of the frontal lobe were compared on magnetic resonance images of 10 children with Velocardiofacial Syndrome and 10 age- and gender-matched controls. Frontal deep white matter was reduced significantly (by about 23%) in subjects with Velocardiofacial Syndrome relative to controls. Frontal and prefrontal volumes were also reduced in subjects with Velocardiofacial Syndrome, although not disproportionately to whole brain volume. The volume of the right caudate nucleus was increased in children with Velocardiofacial Syndrome. Associations between right caudate and right frontal regions were noted in controls but not in children with Velocardiofacial Syndrome. These findings suggest frontostriatal dysfunction in children with Velocardiofacial Syndrome. Insofar as up to 30% of adults with Velocardiofacial Syndrome (also known as chromosome 22q11 deletion Syndrome) develop schizophrenia and frontostriatal dysfunction has been noted in schizophrenia, the findings support the hypothesis that Velocardiofacial Syndrome might represent a neurodevelopmental model of schizophrenia.
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regional cortical white matter reductions in Velocardiofacial Syndrome a volumetric mri analysis
Biological Psychiatry, 2001Co-Authors: Wendy R Kates, Courtney P Burnette, Ethylin Wang Jabs, Julie Rutberg, Anne M Murphy, Marco A Grados, Michael T Geraghty, Walter E KaufmannAbstract:Abstract Background: Velocardiofacial Syndrome, caused by a microdeletion on chromosome 22q.11, is associated with craniofacial anomalies, cardiac defects, learning disabilities, and psychiatric disorders. To understand how the 22q.11 deletion affects brain development, this study examined gray and white matter volumes in major lobar brain regions of children with Velocardiofacial Syndrome relative to control subjects. Methods: Subjects were ten children with Velocardiofacial Syndrome and ten age- and gender-matched unaffected children. Coronal images were acquired with a 3-D spoiled gradient echo series and partitioned into 124, 1.5-mm contiguous slices. A stereotaxic grid was used to subdivide brain tissue into cerebral lobes, which were segmented into gray, white, and CSF compartments using an algorithm based on intensity values and tissue boundaries. Nonparametric statistics were used to compare lobar volumes of gray and white matter. Results: Analyses indicated that children with Velocardiofacial Syndrome had significantly smaller volumes in nonfrontal, but not frontal, lobar brain regions. Volume reductions affected nonfrontal white matter to a greater extent than nonfrontal gray matter. Conclusions: The presence of white matter reductions may be related to disturbances in myelination or axonal integrity in Velocardiofacial Syndrome. Further work is required to delineate the nature and extent of white matter anomalies, and to link them to variation in the neurocognitive and neuropsychiatric phenotype of Velocardiofacial Syndrome.
Allan L Reiss - One of the best experts on this subject based on the ideXlab platform.
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Functional brain imaging study of mathematical reasoning abilities in Velocardiofacial Syndrome
2020Co-Authors: Christine Blasey, Christopher D White, Vinod Menon, J. Eric Schmitt, Allan L ReissAbstract:Purpose: Children with Velocardiofacial Syndrome (VCFS) often have deficits in mathematical reasoning. Previous research has suggested that structural abnormalities in the parietal lobe region might underlie these deficits. The present study utilized functional magnetic resonance imaging (fMRI) to explore the relationship between brain function and mathematical performance in VCFS. Methods: Eight children with VCFS and eight comparison subjects underwent fMRI scanning and completed an arithmetic computation task. Results: In the VCFS group, increased activation was observed in the left supramarginal gyrus (LSMG) as the task difficulty increased. Conclusion: Aberrant LSMG activation, possibly due to structural deficits of the left parietal lobe, may explain decrements in arithmetic performance observed in VCFS. Genetics in Medicine, 2001:3(1):49‐55.
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investigation of white matter structure in Velocardiofacial Syndrome a diffusion tensor imaging study
American Journal of Psychiatry, 2003Co-Authors: Naama Barneagoraly, Allan L Reiss, Vinod Menon, Ben Krasnow, Alex Ko, Stephan EliezAbstract:OBJECTIVE: Velocardiofacial Syndrome, caused by a deletion on chromosome 22q11.2, is often accompanied by cognitive, behavioral, and psychiatric impairments. Specifically, Velocardiofacial Syndrome has been proposed as a disease model for a genetically mediated subtype of schizophrenia. Velocardiofacial Syndrome is also known to affect brain structure. The most prominent structural findings in Velocardiofacial Syndrome are reduced white matter volumes. However, the structure of white matter and extent of specific regional involvement in this Syndrome have never been investigated. The current study used diffusion tensor imaging to investigate white matter structure in children and young adults with Velocardiofacial Syndrome. METHOD: Nineteen participants with Velocardiofacial Syndrome and 19 age- and gender-matched comparison subjects underwent diffusion-weighted magnetic resonance imaging scans. Whole brain voxel-by-voxel analyses were conducted to investigate white matter fractional anisotropy difference...
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language skills in children with Velocardiofacial Syndrome deletion 22q11 2
The Journal of Pediatrics, 2002Co-Authors: Bronwyn Glaser, Allan L Reiss, Christine Blasey, Donna L Mumme, Michael A Morris, Sophie P Dahoun, Stylianos E Antonarakis, Stephan EliezAbstract:OBJECTIVE: To further define the language profile of children with Velocardiofacial Syndrome (VCFS) and explore the influence of parental origin of the deletion on language. STUDY DESIGN: Children and adolescents with VCFS (n = 27) were group-matched for sex, age, and IQ with 27 children and adolescents with idiopathic developmental delay. Fifty-four typically developing control subjects were also included in the analyses investigating word association abilities. RESULTS: Children with VCFS had significantly lower receptive than expressive language skills, a unique finding when compared with IQ-matched control subjects. However, no significant differences in word association were detected. Children with a deletion of paternal origin score significantly higher on receptive language when compared with children with a deletion of maternal origin. CONCLUSIONS: The Clinical Evaluation of Language Fundamentals-III results suggest that children with VCFS show more severe deficits in receptive than expressive language abilities. Language skills of children with VCFS could be influenced by parental origin of the deletion and thus related to neuroanatomic alterations at the deletion site.
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Velocardiofacial Syndrome are structural changes in the temporal and mesial temporal regions related to schizophrenia
American Journal of Psychiatry, 2001Co-Authors: Stephan Eliez, Christopher D White, Christine Blasey, Eric J Schmitt, David Hu, Allan L ReissAbstract:Objective: Velocardiofacial Syndrome results from a microdeletion on chromosome 22 (22q11.2). Clinical studies indicate that more than 30% of children with the Syndrome will develop schizophrenia. The authors sought to determine whether neuroanatomical features in Velocardiofacial Syndrome are similar to those reported in the literature on schizophrenia by measuring the volumes of the temporal lobe, superior temporal gyrus, and mesial temporal structures in children and adolescents with Velocardiofacial Syndrome. Method: Twenty-three children and adolescents with Velocardiofacial Syndrome and 23 comparison subjects, individually matched for age and gender, received brain magnetic resonance imaging (MRI) scans. Analysis of covariance models were used to compare regional brain volumes. Correlations between residualized brain volumes and age were standardized and compared with the Fisher r-to-z transformation. Results: Children with Velocardiofacial Syndrome had significantly smaller average temporal lobe, superior temporal gyrus, and hippocampal volumes than normal comparison children, although these differences were commensurate with a lower overall brain size in the affected children. In a cross-sectional analysis, children with Velocardiofacial Syndrome exhibited aberrant volumetric reductions with age that were localized to the temporal lobe and left hippocampal regions. Conclusions: Abnormal temporal lobe and hippocampal development in Velocardiofacial Syndrome is potentially concordant with MRI findings in the schizophrenia literature. Temporal lobe and mesial temporal structures may represent a shared substrate for the effects of the 22q11.2 deletion and for the complex etiological pathways that lead to schizophrenia. Longitudinal research may help determine which children with Velocardiofacial Syndrome are at risk for serious psychiatric illness in adulthood.
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functional brain imaging study of mathematical reasoning abilities in Velocardiofacial Syndrome del22q11 2
Genetics in Medicine, 2001Co-Authors: Stephan Eliez, Christopher D White, Vinod Menon, Christine Blasey, Eric J Schmitt, Allan L ReissAbstract:Purpose: Children with Velocardiofacial Syndrome (VCFS) often have deficits in mathematical reasoning. Previous research has suggested that structural abnormalities in the parietal lobe region might underlie these deficits. The present study utilized functional magnetic resonance imaging (fMRI) to explore the relationship between brain function and mathematical performance in VCFS. Methods: Eight children with VCFS and eight comparison subjects underwent fMRI scanning and completed an arithmetic computation task. Results: In the VCFS group, increased activation was observed in the left supramarginal gyrus (LSMG) as the task difficulty increased. Conclusion: Aberrant LSMG activation, possibly due to structural deficits of the left parietal lobe, may explain decrements in arithmetic performance observed in VCFS.
Kathleen E Sullivan - One of the best experts on this subject based on the ideXlab platform.
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Chromosome 22q11.2 deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome).
Medicine, 2020Co-Authors: Donna M. Mcdonald-mcginn, Kathleen E SullivanAbstract:AbstractChromosome 22q11.2 deletion Syndrome is a common Syndrome also known as DiGeorge Syndrome and Velocardiofacial Syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this Syndrome
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DiGeorge Syndrome/Velocardiofacial Syndrome: The Chromosome 22q11.2 Deletion Syndrome
Advances in Experimental Medicine and Biology, 2020Co-Authors: Kathleen E SullivanAbstract:Chromosome 22q11.2 deletion (CH22qD) Syndrome is also known as DiGeorge Syndrome or Velocardiofacial Syndrome. This deletion Syndrome is extremely common with nearly one in 4000 children being affected. Recent advances and a holistic approach to patients have improved the care and well-being of these patients. This review will summarize advances in understanding the health needs and immune system of patients with CH22qD Syndrome. Patients will most often need interventions directed at maximizing function for many organ systems but can ultimately have a high level of functioning.
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chromosome 22q11 2 deletion Syndrome digeorge Syndrome Velocardiofacial Syndrome
Medicine, 2011Co-Authors: Donna M Mcdonaldmcginn, Kathleen E SullivanAbstract:AbstractChromosome 22q11.2 deletion Syndrome is a common Syndrome also known as DiGeorge Syndrome and Velocardiofacial Syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this Syndrome
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Velocardiofacial Syndrome digeorge Syndrome the chromosome 22q11 2 deletion Syndromes
The Lancet, 2007Co-Authors: Lisa Kobrynski, Kathleen E SullivanAbstract:Summary Velocardiofacial Syndrome, DiGeorge Syndrome, and some other clinical Syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2. This deletion Syndrome is very common, affecting nearly one in 3000 children. Here, we focus on recent advances in cardiac assessment, speech, immunology, and pathophysiology of Velocardiofacial Syndrome. The complex medical care of patients needs a multidisciplinary approach, and every patient has his own unique clinical features that need a tailored approach. Patients with chromosome 22q11.2 deletion Syndrome might have high level of functioning, but most often need interventions to improve the function of many organ systems.
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allergies in patients with chromosome 22q11 2 deletion Syndrome digeorge Syndrome Velocardiofacial Syndrome and patients with chronic granulomatous disease
Pediatric Allergy and Immunology, 2005Co-Authors: Lauren Staple, Donna M Mcdonaldmcginn, Elaine H Zackai, Timothy Andrews, Kathleen E SullivanAbstract:: Humoral immunodeficiencies have a recognized association with atopy. This study investigated the association of a T-cell disorder (chromosome 22q11.2 deletion) and a neutrophil disorder [chronic granulomatous disease (CGD)] with asthma, eczema, and rhinitis using a standardized survey instrument. Patients were recruited from either a national referral center (chromosome 22q11.2 deletion Syndrome) or from a registry (CGD). Controls consisted of siblings of patients. Chromosome 22q11.2 deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) was found to be significantly associated with both eczema and asthma but not allergic rhinitis. CGD was not found to be significantly associated with atopic diseases.
Roger V Lebo - One of the best experts on this subject based on the ideXlab platform.
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chromosome 22q11 2 microdeletions in Velocardiofacial Syndrome patients with widely variable manifestations
American Journal of Medical Genetics, 1996Co-Authors: Britt J Ravnan, Emily Chen, Mahin Golabi, Roger V LeboAbstract:Velocardiofacial Syndrome (VCFS) and the DiGeorge sequence (DGS) are caused by 22q11.2 deletions. Fluorescence in situ hybridization (FISH) using the DiGeorge chromosome region (DGCR) probe (Oncor) was used to detect 31 deletions in 100 patients with possible VCFS. Retrospective FISH analysis of archived slides from 14 patients originally studied only by high-resolution G banding detected 6 patients with a DGCR deletion, and only 2 of these 6 had a microscopically visible chromosome deletion. The 4 familial deletions found exhibited a wide range of clinical presentations within each family. Comparison of clinical characteristics of patients with and without the DGCR deletion determined findings predictive of the deletion: abundant or unruly scalp hair; narrow palpebral fissures; a laterally “built-up” nose; velopharyngeal inadequacy; thymic hypoplasia; and congenital heart defects, specifically tetralogy of Fallot, ventriculoseptal defect, and interrupted aortic arch. © 1996 Wiley-Liss, Inc.
