Velocardiofacial Syndrome

Kirkpatrick, 1968, Congenital absence of the thymus, Am J Roentgenol Radium Ther Nucl Med, 103, 32, 10.2214/ajr.103.1.32 Shprintzen, 1978, A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome, Cleft Palate J, 15, 56 Carey, 1992, Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome, Am J Hum Genet, 51, 964 Driscoll, 1992, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11, Am J Hum Genet, 50, 924 Driscoll, 1992, Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome, Am J Med Genet, 44, 261, 10.1002/ajmg.1320440237 Driscoll, 1993, Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis, J Med Genet, 30, 813, 10.1136/jmg.30.10.813 Botto, 2003, A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population, Pediatrics, 112, 101, 10.1542/peds.112.1.101 Marino, 2005, Congenital cardivascular disease and velo-cardio-facial syndrome, 47 Kirscher, 2005, Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome, 83 Murphy, 1999, High rates of schizophrenia in adults with velo-cardio-facial syndrome, Arch Gen Psychiatry, 56, 940, 10.1001/archpsyc.56.10.940 Arinami, 2001, Screening for 22q11 deletions in a schizophrenia population, Schizophr Res, 52, 167, 10.1016/S0920-9964(00)00192-4 Karayiorgou, 1995, Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11, Proc Natl Acad Sci U S A, 92, 7612, 10.1073/pnas.92.17.7612 Sporn, 2004, 22q11 deletion syndrome in childhood onset schizophrenia: an update, Mol Psychiatry, 9, 225, 10.1038/sj.mp.4001477 Bassett, 1998, 22q11 deletion syndrome in adults with schizophrenia, Am J Med Genet, 81, 328, 10.1002/(SICI)1096-8628(19980710)81:4<328::AID-AJMG10>3.0.CO;2-N Gothelf, 1997, Velocardiofacial manifestations and microdeletions in schizophrenic inpatients, Am J Med Genet, 72, 455, 10.1002/(SICI)1096-8628(19971112)72:4<455::AID-AJMG16>3.0.CO;2-Q Bastain, 2002, Cytogenetic abnormalities in attention-deficit/hyperactivity disorder, J Am Acad Child Adolesc Psychiatry, 41, 806, 10.1097/00004583-200207000-00012 Shprintzen, 1989, Evaluation of velopharyngeal insufficiency, Otolaryngol Clin North Am, 22, 519, 10.1016/S0030-6665(20)31414-6 Morrow, 1995, Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome, Am J Hum Genet, 56, 1391 McDonald-McGinn, 2001, Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!, Genet Med, 3, 23, 10.1097/00125817-200101000-00006 Ryan, 1997, Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study, J Med Genet, 34, 798, 10.1136/jmg.34.10.798 Prescott, 2005, Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome, Hum Genet, 116, 486, 10.1007/s00439-005-1274-3 Funke, 2001, Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11, Genomics, 73, 264, 10.1006/geno.2000.6506 McDermid, 2002, Genomic disorders on 22q11, Am J Hum Genet, 70, 1077, 10.1086/340363 Paylor, 2006, Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome, Proc Natl Acad Sci U S A, 103, 7729, 10.1073/pnas.0600206103 Shprintzen, 2000, Velo-cardio-facial syndrome: a distinct behavioral phenotype, Ment Retard Dev Disabil Res Rev, 6, 142, 10.1002/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H Arnold, 2001, Velo-cardio-facial syndrome: implications of microdeletion 22q11 for schizophrenia and mood disorders, Am J Med Genet, 105, 354, 10.1002/ajmg.1359 Feinstein, 2002, Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk, Biol Psychiatry, 51, 312, 10.1016/S0006-3223(01)01231-8 Fine, 2005, Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome, J Autism Dev Disord, 35, 461, 10.1007/s10803-005-5036-9 Gothelf, 2003, Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study, J Clin Psychiatry, 64, 1163, 10.4088/JCP.v64n1004 Gothelf, 2004, Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome, Am J Med Genet Neuropsychiatr Genet, 126, 99, 10.1002/ajmg.b.20124 Papolos, 1996, Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?, Am J Psychiatry, 153, 1541, 10.1176/ajp.153.12.1541 Prinzie, 2002, Personality profiles of youngsters with velo-cardio-facial syndrome, Genet Couns, 13, 265 Swillen, 2001, Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age, Genet Couns, 12, 309 Baker, 2005, Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group, Br J Psychiatry, 186, 115, 10.1192/bjp.186.2.115 Antshel, 2006, ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome, J Am Acad Child Adolesc Psychiatry, 45, 596, 10.1097/01.chi.0000205703.25453.5a Debbane, 2005, Temporal perception in velo-cardio-facial syndrome, Neuropsychologia, 43, 1754, 10.1016/j.neuropsychologia.2005.02.006 Dykens, 1996, Obsessions and compulsions in Prader-Willi syndrome, J Child Psychol Psychiatry, 37, 995, 10.1111/j.1469-7610.1996.tb01496.x Mervis, 2000, Williams syndrome: cognition, personality, and adaptive behavior, Ment Retard Dev Disabil Res Rev, 6, 148, 10.1002/1098-2779(2000)6:2<148::AID-MRDD10>3.0.CO;2-T Antshel KM, Aneja A, Strunge L, et al. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord 2007, in press. Niklasson, 2001, Neuropsychiatric disorders in the 22q11 deletion syndrome, Genet Med, 3, 79, 10.1097/00125817-200101000-00017 Vorstman, 2006, The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms, J Am Acad Child Adolesc Psychiatry, 45, 1104, 10.1097/01.chi.0000228131.56956.c1 Gothelf D, Feinstein C, Thompson T, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 2007;164(4):663–9. Bassett, 2003, The schizophrenia phenotype in 22q11 deletion syndrome, Am J Psychiatry, 160, 1580, 10.1176/appi.ajp.160.9.1580 Usiskin, 1999, Velocardiofacial syndrome in childhood-onset schizophrenia, J Am Acad Child Adolesc Psychiatry, 38, 1536, 10.1097/00004583-199912000-00015 Turner, 1989, Schizophrenia and mental handicap: an historical review, with implications for further research, Psychol Med, 19, 301, 10.1017/S0033291700012344 Murphy, 2002, Schizophrenia and velo-cardio-facial syndrome, Lancet, 359, 426, 10.1016/S0140-6736(02)07604-3 Swillen, 1997, Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS, J Med Genet, 34, 453, 10.1136/jmg.34.6.453 Simon, 2005, A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children, Dev Psychopathol, 17, 753, 10.1017/S0954579405050364 Campbell, 2005 Henry, 2002, An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS), Neuropsychologia, 40, 471, 10.1016/S0028-3932(01)00136-1 Gothelf, 2005, COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome, Nat Neurosci, 8, 1500, 10.1038/nn1572 Sobin, 2004, Networks of attention in children with the 22q11 deletion syndrome, Dev Neuropsychol, 26, 611, 10.1207/s15326942dn2602_5 Woodin, 2001, Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion, Genet Med, 3, 34, 10.1097/00125817-200101000-00008 Kates, 2004, Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2), J Child Neurol, 19, 337, 10.1177/088307380401900506 Eliez, 2002, Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2), Biol Psychiatry, 52, 68, 10.1016/S0006-3223(02)01361-6 Simon, 2005, Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome, Cortex, 41, 145, 10.1016/S0010-9452(08)70889-X Campbell, 2006, Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study, Brain, 129, 1218, 10.1093/brain/awl066 Eliez, 2000, Children and adolescents with velocardiofacial syndrome: a volumetric MRI study, Am J Psychiatry, 157, 409, 10.1176/appi.ajp.157.3.409 Kates, 2001, Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis, Biol Psychiatry, 49, 677, 10.1016/S0006-3223(00)01002-7 Eliez, 2001, Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2), Genet Med, 3, 49, 10.1097/00125817-200101000-00011 Gothelf D, Hoeft F, Hinard C, et al. Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Hum Brain Mapp 2007, in press. Bish, 2005, Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome, Dev Sci, 8, 36, 10.1111/j.1467-7687.2005.00391.x Debbane, 2006, Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: neuropsychological and behavioral implications, Schizophr Res, 84, 187, 10.1016/j.schres.2006.01.019 Poulton, 2000, Children's self-reported psychotic symptoms and adult schizophreniform disorder: a 15-year longitudinal study, Arch Gen Psychiatry, 57, 1053, 10.1001/archpsyc.57.11.1053 Niemi, 2003, Childhood developmental abnormalities in schizophrenia: evidence from high-risk studies, Schizophr Res, 60, 239, 10.1016/S0920-9964(02)00234-7 Gothelf, 2006, Association of the low-activity COMT 158 Met allele with ADHD and OCD in subjects with velocardiofacial syndrome, Int J Neuropsychopharmacol, 31, 1 Egan, 2001, Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia, Proc Natl Acad Sci U S A, 98, 6917, 10.1073/pnas.111134598 Mattay, 2003, Catechol O-methyltransferase val158-met genotype and individual variation in the brain response to amphetamine, Proc Natl Acad Sci U S A, 100, 6186, 10.1073/pnas.0931309100 Goldman-Rakic, 2000, D(1) receptors in prefrontal cells and circuits, Brain Res Brain Res Rev, 31, 295, 10.1016/S0165-0173(99)00045-4 Zahrt, 1997, Supranormal stimulation of D1 dopamine receptors in the rodent prefrontal cortex impairs spatial working memory performance, J Neurosci, 17, 8528, 10.1523/JNEUROSCI.17-21-08528.1997 Cai, 1997, Dose-dependent effects of the dopamine D1 receptor agonists A77636 or SKF81297 on spatial working memory in aged monkeys, J Pharmacol Exp Ther, 283, 183 Seamans, 2004, The principal features and mechanisms of dopamine modulation in the prefrontal cortex, Prog Neurobiol, 74, 1, 10.1016/j.pneurobio.2004.05.006 Bearden, 2004, Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome, Am J Psychiatry, 161, 1700, 10.1176/appi.ajp.161.9.1700 Glaser, 2006, No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome, Am J Psychiatry, 163, 537, 10.1176/appi.ajp.163.3.537 Bender, 2005, Functional consequences of PRODH missense mutations, Am J Hum Genet, 76, 409, 10.1086/428142 Paterlini, 2005, Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice, Nat Neurosci, 8, 1586, 10.1038/nn1562 Liu, 2002, Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia, Proc Natl Acad Sci U S A, 99, 3717, 10.1073/pnas.042700699 Raux, 2007, Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome, Hum Mol Genet, 16, 83, 10.1093/hmg/ddl443 McGlashan, 2006, Randomized, double-blind trial of olanzapine versus placebo in patients prodromally symptomatic for psychosis, Am J Psychiatry, 163, 790, 10.1176/appi.ajp.163.5.790 McGorry, 2002, Randomized controlled trial of interventions designed to reduce the risk of progression to first-episode psychosis in a clinical sample with subthreshold symptoms, Arch Gen Psychiatry, 59, 921, 10.1001/archpsyc.59.10.921 Thomas, 2006, The schizophrenia prodrome: a developmentally informed review and update for psychopharmacologic treatment, Child Adolesc Psychiatr Clin N Am, 15, 109, 10.1016/j.chc.2005.08.011 Gothelf, 1999, Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome, Schizophr Res, 35, 105, 10.1016/S0920-9964(98)00114-5 Graf, 2001, Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism, Neurology, 57, 410, 10.1212/WNL.57.3.410 O'Hanlon, 2003, Replacement of antipsychotic and antiepileptic medication by L-alpha-methyldopa in a woman with velocardiofacial syndrome, Int Clin Psychopharmacol, 18, 117, 10.1097/00004850-200303000-00010 DuBois, 2002, Effectiveness of mentoring programs for youth: a meta-analytic review, Am J Community Psychol, 30, 157, 10.1023/A:1014628810714 Shprintzen, 1992, Late-onset psychosis in the velo-cardio-facial syndrome, Am J Med Genet, 42, 141, 10.1002/ajmg.1320420131 Pulver, 1994, Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives, J Nerv Ment Dis, 182, 476, 10.1097/00005053-199408000-00010