PMID- 11378850
OWN - NLM
STAT- MEDLINE
DCOM- 20010719
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 105
IP  - 4
DP  - 2001 May 8
TI  - Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for 
      schizophrenia and mood disorders.
PG  - 354-62
AB  - Velo-cardio-facial syndrome (VCFS) is a congenital malformation syndrome with 
      variable phenotypic features that has been associated with chromosomal 
      microdeletion 22q11.2. Psychiatric disorders have been reported to be highly 
      prevalent in individuals with this syndrome, and the objective of this study was 
      to assess the nature and extent of psychopathology among individuals with VCFS. 
      We studied 20 children and adolescents with 22q11 deletions determined by 
      fluorescence in situ hybridization (FISH). Control subjects were 11 nondeleted 
      siblings who were the closest age match to the affected subjects. Both affected 
      and control subjects were assessed using two standardized psychiatric research 
      instruments. The results of this study confirmed the high rate of psychiatric 
      disorders among VCFS subjects (60% of our subjects). Of the specific types of 
      disorders, only mood disorders were significantly more common among VCFS subjects 
      compared to sibling controls, with eight VCFS subjects having mood disorders 
      compared with none of the control subjects (P<0.02). Three affected subjects had 
      schizotypal traits comorbid with a mood disorder. In addition, disruptive 
      behavior disorders were frequently diagnosed among VCFS subjects. Using a 
      dimensional measure of psychopathology, significant differences between VCFS 
      subjects and sibling controls were found on three scales: ADHD (P<0.02), 
      separation anxiety (P<0.02), and depression (P<0.01). VCFS subjects were 
      achieving significantly less well academically and requiring significantly more 
      special educational assistance than sibling controls. Follow-up data were 
      available on two subjects, both of whom had been diagnosed with schizophrenia. 
      Further research on psychopathology in VCFS may provide a model of how a specific 
      genetic defect can lead to the development of psychiatric disorders.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Arnold, P D
AU  - Arnold PD
AD  - The Hospital for Sick Children, University of Toronto, Toronto, Canada.
FAU - Siegel-Bartelt, J
AU  - Siegel-Bartelt J
FAU - Cytrynbaum, C
AU  - Cytrynbaum C
FAU - Teshima, I
AU  - Teshima I
FAU - Schachar, R
AU  - Schachar R
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology/psychology
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Craniofacial Abnormalities/*pathology
MH  - Family Health
MH  - Female
MH  - Heart Defects, Congenital/*pathology
MH  - Humans
MH  - Male
MH  - Mood Disorders/genetics/pathology
MH  - Psychiatric Status Rating Scales
MH  - Schizophrenia/genetics/pathology
MH  - Syndrome
MH  - Velopharyngeal Insufficiency/*pathology
EDAT- 2001/05/30 10:00
MHDA- 2001/07/20 10:01
CRDT- 2001/05/30 10:00
PHST- 2001/05/30 10:00 [pubmed]
PHST- 2001/07/20 10:01 [medline]
PHST- 2001/05/30 10:00 [entrez]
AID - 10.1002/ajmg.1359 [pii]
AID - 10.1002/ajmg.1359 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 May 8;105(4):354-62. doi: 10.1002/ajmg.1359.