The psychopathological phenotype of velo-cardio-facial syndrome

Vogels, Annick; Verhoeven, W.M.A.; Tuinier, S.; Devriendt, Koenraad; Swillen, Ann; Curfs, Leopold; Frijns, Jean-Pierre

doi:10.1016/s0003-3995(02)01114-0

Cited by 34 publications

(38 citation statements)

References 32 publications

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“…The most commonly reported psychiatric disorders are attention deficit/hyperactivity disorder (ADHD) (present in 30-40% of individuals with VCFS) [29][30][31] , anxiety disorders, especially simple phobias and separation anxiety (present in 30-40%) 10,30,32,33 , autism spectrum disorders (10-30%) 34, 35 , mood disorders including major depression and bipolar disorder (present in 20-30%) 30,36 and psychotic disorders (25-30%) 37,38 .…”

Section: Nih Public Accessmentioning

confidence: 99%

“…Reading, spelling and phonological processing skills as well as rote auditory/verbal memory are relatively spared in VCFS 5,[11][12][13][14][15][16][17] . Conversely, math learning disabilities 5, 11, 12, 17-22 , visuospatial deficits 14, 17, 18 , attention deficits 11,19,23,24 and executive function deficits in domains such as cognitive flexibility, response inhibition and nonverbal working memory have been reported to be an area of weakness in the VCFS cognitive profile 11-13, 15-17, 19, 25-28 .The most commonly reported psychiatric disorders are attention deficit/hyperactivity disorder (ADHD) (present in 30-40% of individuals with VCFS) [29][30][31] , anxiety disorders, especially simple phobias and separation anxiety (present in 30-40%) 10,30,32,33 , autism spectrum disorders (10-30%) 34, 35 , mood disorders including major depression and bipolar disorder (present in 20-30%) 30,36 and psychotic disorders (25-30%) 37,38 .Clearly, the most worrisome feature of the VCFS behavioral profile is the elevated risk for schizophrenia and psychosis. Only one longitudinal study of youth with VCFS has been published.…”

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Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study

Antshel

Shprintzen

Fremont

et al. 2010

Journal of the American Academy of Child & Adolescent Psych

133

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Objective-To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS).Method-70 youth with VCFS, 27 siblings of youth with VCFS and 25 community controls were followed from childhood (Mean age = 11.8 years) into mid-adolescence (mean age 15.0 years). Psychological tests measuring intelligence, academic achievement, learning/memory, attention and executive functioning as well as measures of parent and clinician ratings of child psychiatric functioning were completed at both time points.Results-Major depressive disorder, oppositional defiant disorder and generalized anxiety disorder diagnoses increased in the VCFS sample. With very low false positives, the best predictor of adolescent prodromal psychotic symptoms was parent ratings of childhood odd/eccentric symptoms and child performance on a measure of executive functioning, the Wisconsin Card Sorting Test.Conclusions-Similar to the non-VCFS prodromal psychosis literature, a combination of cognitive and psychiatric variables appears to predict psychosis in adolescence. A child with VCFS who screens positive is noteworthy and demands clinical attention. KeywordsVelocardiofacial syndrome (VCFS); 22q11 deletion syndrome; cognition; psychosis; longitudinal Velo-cardio-facial syndrome (VCFS) is caused by an interstitial deletion from chromosome 22 at the 22q11 band. The most common microdeletion syndrome yet identified in humans, VCFS has a population prevalence of approximately 1:2000 to 1:6000 live births 1, 2 . In most cases, VCFS is caused by a hemizygous deletion of 3 million base pairs of DNA encompassing 40 genes but approximately 8% have smaller nested deletions of 1.5 million base pairs spanning 34 genes 3 . Structural anomalies affect nearly every part and system of the body and may Correspondence to: Kevin Antshel, Ph.D. SUNY -Upstate Medical University Department of Psychiatry and Behavioral Sciences, 750 East Adams Street, Syracuse, NY 13210; AntshelK@upstate.edu. Disclosure: Dr. Faraone, in the past year, has received consulting fees and has been on Advisory Boards for Eli Lilly, Ortho-McNeil, and Shire Development, and has received research support from Eli Lilly, Pfizer, Shire and the National Institutes of Health. In previous years, Dr. Faraone has received consulting fees or has been on advisory boards, or has been a speaker for the following sources: Shire, McNeil, Janssen, Novartis, Pfizer, and Eli Lilly. In previous years he has received research support from Eli Lilly, Shire, Pfizer and the National Institutes of Health. Drs. Antshel, Shprintzen, Fremont, and Kates, and Ms. Higgins report no biomedical financial interests or potential conflicts of interest.Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the prod...

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Section: Nih Public Accessmentioning

confidence: 99%

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confidence: 99%

Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study

Antshel

Shprintzen

Fremont

et al. 2010

Journal of the American Academy of Child & Adolescent Psych

133

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“…Attention-deficit hyperactivity disorder (ADHD) is the most common psychiatric morbidity in children with VCFS, affecting approximately one-third to two-fifths of children (Antshel et al, 2006;Gothelf et al, 2004a). In addition to ADHD, mood, anxiety and oppositional defiant disorders are observed at increased prevalence rates compared to the general population (Antshel et al, 2006;Feinstein et al, 2002;Gothelf et al, 2004b;Papolos et al, 1996;Vogels et al, 2002). Furthermore, individuals with VCFS may be predisposed to psychiatric conditions in adulthood, most commonly schizophrenia (Shprintzen et al, 1992;Murphy, Jones, & Owen, 1999).…”

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Associations Between Performance on the Rey-Osterrieth Complex Figure and Regional Brain Volumes in Children with and without Velocardiofacial Syndrome

Antshel¹,

Peebles²,

AbdulSabur³

et al. 2008

Developmental Neuropsychology

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Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race and gender-ratio comparable sample of 59 control participants were included in the project. Participants received a MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the current report is the Rey-Osterrieth Complex Figure (ROCF). Children with VCFS performed less well on the ROCF and have lower whole brain volume compared to controls. After controlling for whole brain volume differences, children with VCFS have bilaterally less parietal lobe gray and white matter yet more frontal lobe white matter. Brain -behavior relationships include: (a) for both groups, parietal volumes (both gray and white matter) predicted ROCF Copy Organization performance and frontal volumes (both gray and white matter) predicted ROCF Copy Accuracy performance; (b) for controls, frontal white matter also predicted ROCF Copy Organization performance; (c) ROCF Recall Organization performance was best predicted by frontal gray matter volume only in our controls; ROCF Recall Accuracy performance was best predicted by frontal gray matter volume in both groups; and (d) in children with VCFS, performance on the ROCF-Copy Structural Elements Accuracy scale was predicted by right hemisphere white matter volume. Our hypotheses were also retested using IQmatched and whole brain volume-matched subsamples. Identical results were obtained in these analyses. Assumptions about the organization of and the localization of the brain structures that subserve specific cognitive functions in the typically developing brain may not apply in the abnormally developing brain. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptVelocardiofacial syndrome (VCFS), a chromosomal deletion disorder of 22q11.2 (3 Mb, 25-30 genes) affects 1 in 2000-5000 individuals . The deletion syndrome is associated with multiple congenital anomalies, including cardiac malformations, hearing loss, hypocalcaemia, velopharyngeal insufficiency and cleft palate (Ryan et al., 1997). Phenotypic facial abnormalities include a long face, pear-shaped nose, small ears with overfolded helicies, and vertically narrow eyes (Antshel et al., 2005). VCFS is associated with cognitive and developmental delays and the vast majority of children with VCFS experience academic difficulties, especially in math (Simon et al., 2002;Swillen et al., 1997;Swillen et al., 1999). Executive functioning deficits including difficulties shifting attention and a poorly developed working memory have also been indicated (Woodin et al., 2000). Most, but not all, children with VCFS exhibit deficits in abstract and nonverbal reasoning and visuospatial abilities (Moss et al., 1999). Some have hypothesized that VCFS is an exemplar of the nonverbal learning disability (NLD; Rourke et al., 2002;Swillen et al., 1999).The VCFS behavioral phenotype includes poor social skills, introversion, disinhibition, impulsivity, anxiet...

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“…1 The COMT gene is located on chromosome 22q11, a region that showed positive results in some linkage studies [2][3][4] but was negative in others. [5][6][7][8] The region is also associated with the velocardiofacial syndrome (VCFS), 9 a genetic disorder characterized by cleft palate, heart defects and characteristic facial appearance. Studies have shown that patients with VCFS are at increased risk for schizophrenia.…”

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Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families

et al. 2004

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The enzyme catechol-o-methyltransferase (COMT) transfers a methyl group from adenosylmethionine to catecholamines including the neurotransmitters dopamine, epinephrine and norepinephrine. This methylation results in the degradation of catecholamines. The involvement of the COMT gene in the metabolic pathway of these neurotransmitters has made it an attractive candidate gene for many psychiatric disorders. In this article, we reported our study of association of COMT with schizophrenia in Irish families with a high density of schizophrenia. Three single nucleotide polymorphisms (SNPs) were genotyped for the 274 such families and within-family transmission disequilibrium tests were performed. SNP rs4680, which is the functional Val/Met polymorphism, showed modest association with the disease by the TRANSMIT, FBAT and PDT programs, while the other two SNPs were negative. These SNPs showed lower level of LDs with each other in the Irish subjects than in Ashkenazi Jews. Haplotype analysis indicated that a haplotype, haplotype A-G-A for SNPs rs737865-rs4680-rs165599, was preferentially transmitted to the affected subjects. This was different from the reported G-G-G haplotype found in Ashkenazi Jews, but both haplotypes shared the Val allele. We concluded that COMT gene is associated with schizophrenia and carries a small but significant risk to the susceptibility in the Irish subjects. Molecular Psychiatry (2004) 9, 962-967.

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The psychopathological phenotype of velo-cardio-facial syndrome

Cited by 34 publications

References 32 publications

Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study

Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study

Associations Between Performance on the Rey-Osterrieth Complex Figure and Regional Brain Volumes in Children with and without Velocardiofacial Syndrome

Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families

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