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

Research output: Contribution to journalArticle

318 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1541-1547
Number of pages7
JournalAmerican Journal of Psychiatry
Volume153
Issue number12
StatePublished - Dec 1996
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Chromosome Deletion
Mood Disorders
Bipolar Disorder
Diagnostic and Statistical Manual of Mental Disorders
Psychiatry
Interviews
Attention Deficit Disorder with Hyperactivity
Age of Onset
Schizophrenia
Learning Disorders
Medical Records
Consensus
Chromosomes
Research
Population
Genes

ASJC Scopus subject areas

  • Psychiatry and Mental health

Cite this

Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome : Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? / Papolos, Demitri F.; Faedda, Gianni L.; Veit, Sabine; Goldberg, Rosalie; Morrow, Bernice E.; Kucherlapati, Raju; Shprintzen, Robert J.

In: American Journal of Psychiatry, Vol. 153, No. 12, 12.1996, p. 1541-1547.

Research output: Contribution to journalArticle

Papolos, Demitri F. ; Faedda, Gianni L. ; Veit, Sabine ; Goldberg, Rosalie ; Morrow, Bernice E. ; Kucherlapati, Raju ; Shprintzen, Robert J. / Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome : Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?. In: American Journal of Psychiatry. 1996 ; Vol. 153, No. 12. pp. 1541-1547.
@article{ab05b003b7084305b654d754ea5c361b,
title = "Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?",
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.",
author = "Papolos, {Demitri F.} and Faedda, {Gianni L.} and Sabine Veit and Rosalie Goldberg and Morrow, {Bernice E.} and Raju Kucherlapati and Shprintzen, {Robert J.}",
year = "1996",
month = "12",
language = "English (US)",
volume = "153",
pages = "1541--1547",
journal = "American Journal of Psychiatry",
issn = "0002-953X",
publisher = "American Psychiatric Association",
number = "12",

}

TY - JOUR

T1 - Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome

T2 - Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

AU - Papolos, Demitri F.

AU - Faedda, Gianni L.

AU - Veit, Sabine

AU - Goldberg, Rosalie

AU - Morrow, Bernice E.

AU - Kucherlapati, Raju

AU - Shprintzen, Robert J.

PY - 1996/12

Y1 - 1996/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0029853761&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029853761&partnerID=8YFLogxK

M3 - Article

C2 - 8942449

AN - SCOPUS:0029853761

VL - 153

SP - 1541

EP - 1547

JO - American Journal of Psychiatry

JF - American Journal of Psychiatry

SN - 0002-953X

IS - 12

ER -