Journal ArticleDOI
Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
Demitri F. Papolos,Gianni L. Faedda,Sabine Veit,Rosalie Goldberg,Bernice E. Morrow,Raju Kucherlapati,Robert J. Shprintzen +6 more
TLDR
These findings support an unusually strong association between velo-cardio-facial syndrome and early-onset bipolar disorder and suggest that a gene deleted at the 22q11 chromosomal locus may be involved in its pathogenesis.Abstract:
Objective The purpose of this study was to conduct a systematic assessment of psychiatric illness in patients diagnosed with velo-cardio-facial syndrome, a genetic syndrome that involves over 40 somatic anomalies, learning disabilities, and behavioral disorders and is associated with a microdeletion on chromosome 22q11. Method Subjects were referred for psychiatric diagnostic evaluation without regard to age or previous psychiatric history. In order to establish DSM-III-R consensus clinical diagnoses for patients who ranged in age from 5 to 34 years, the Diagnostic Interview for Children and Adolescents--Revised or the Structured Clinical Interview for DSM-III-R (SCID) was used. A review of available medical and psychiatric records and a clinical interview performed by two research psychiatrists to validate specific symptoms and syndromes reported in the Diagnostic Interview for Children and Adolescents--Revised and the SCID were used to elucidate the chronological appearance and duration of symptoms. Results Sixty-four percent (N = 16 of 25) of this unselected series of patients with velo-cardio-facial syndrome met DSM-III-R criteria for a spectrum of bipolar disorders with full syndromal onset in late childhood or early adolescence (mean age at onset = 12 years, SD = 3). In addition, 20% (N = 5) met DSM-III-R criteria for attention deficit hyperactivity disorder (ADHD), while 16% (N = 4) met criteria for attention deficit disorder without hyperactivity. In contrast to previous reports of a high prevalence of schizophrenia, none of the patients was diagnosed with schizophrenia, and only four had psychotic symptoms during a phase of their illness, all in their 20s or 30s. Conclusions Given that the prevalence of bipolar disorder in the general population is estimated to be 1.5% and that the average age at onset is 24, these findings support an unusually strong association between velo-cardio-facial syndrome and early-onset bipolar disorder and suggest that a gene deleted at the 22q11 chromosomal locus may be involved in its pathogenesis. If confirmed, these findings may provide a new and fruitful line of investigation into the molecular basis of bipolar spectrum disorders.read more
Citations
More filters
Journal Article
Catechol-O-methyltransferase (COMT): biochemistry, molecular biology, pharmacology, and clinical efficacy of the new selective COMT inhibitors.
Pekka T. Männistö,Seppo Kaakkola +1 more
TL;DR: The enzyme responsible for the O- methylation, catechol- O -methyltransferase (COMT) was partly purified and characterized by the same group as EC, which first described the enzyme-catalyzed O-methylation of catechlamines and other catechols in the late 1950s.
Journal ArticleDOI
High Rates of Schizophrenia in Adults With Velo-Cardio-Facial Syndrome
TL;DR: The high prevalence of schizophrenia in this group suggests that chromosome 22q11 might harbor a gene or genes relevant to the etiology of schizophrenic disease in the wider population.
Journal ArticleDOI
Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior
Joseph A. Gogos,Maria A. Morgan,Victoria N. Luine,Miklós Sántha,Sonoko Ogawa,Donald W. Pfaff,Maria Karayiorgou +6 more
TL;DR: The results provide conclusive evidence for an important sex- and region-specific contribution of COMT in the maintenance of steady-state levels of catecholamines in the brain and suggest a role for comT in some aspects of emotional and social behavior in mice.
Journal ArticleDOI
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Maude Schneider,Martin Debbané,Anne S. Bassett,Eva W.C. Chow,Wai Lun Alan Fung,Marianne Bernadette van den Bree,Michael John Owen,Kieran Murphy,Maria Niarchou,Wendy R. Kates,Kevin M. Antshel,Wanda Fremont,Donna M. McDonald-McGinn,Raquel E. Gur,Elaine H. Zackai,Jacob A. S. Vorstman,Sasja Duijff,Petra W.J. Klaassen,Ann Swillen,Doron Gothelf,Tamar Green,Abraham Weizman,Therese van Amelsvoort,L. J. M. Evers,Erik Boot,Vandana Shashi,Stephen R. Hooper,Carrie E. Bearden,Maria Jalbrzikowski,Marco Armando,Stefano Vicari,Declan G. Murphy,Opal Y. Ousley,Linda E. Campbell,Tony J. Simon,Stephan Eliez +35 more
TL;DR: Findings validate previous findings that this condition is one of the strongest risk factors for psychosis and highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.
Journal ArticleDOI
Child and Adolescent Bipolar Disorder: A Review of the Past 10 Years
Barbara Geller,Joan L. Luby +1 more
TL;DR: A review of the epidemiology, phenomenology, natural course, comorbidity, neurobiology, and treatment of child and adolescent bipolar disorder for the past 10 years is provided in this paper.