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PMID: 11803519 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Patterns of dysmorphic features in schizophrenia.

American journal of medical genetics ·Vol. 105 ·No. 8 ·2001-12-08 ·Pages 713-23

Scutt LE, Chow EW, Weksberg R, Honer WG, Bassett AS

Abstract

Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n = 159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n = 123) or referred with possible 22q11 deletion syndrome (referred, n = 36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three-step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between-cluster differences were found for rates of 37 dysmorphic features (P < 0.05), median number of dysmorphic features (P = 0.0001), and validating features not used in the cluster analysis: mild mental retardation (P = 0.001) and congenital heart defects (P = 0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n = 27) comprised mostly referred subjects. Cluster 4 (n = 18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins.

MeSH Terms
Adolescent Adult Aged Aged, 80 and over Child Cluster Analysis Cytogenetic Analysis Female Humans Male Middle Aged Observer Variation Reproducibility of Results Schizophrenia/genetics,pathology
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Scutt L E
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Chow E W
Weksberg R
Honer W G
Bassett A S
References (58)
58 references, click to expand
  1. Minor physical anomalies, dermatoglyphic asymmetries, and cortisol levels in adolescents with schizotypal personality disorder.
    Am J Psychiatry. 1999 Apr;156(4):617-23 PMID: 10200743
  2. Minor physical anomalies in psychoses: associations with clinical and putative aetiological variables.
    Schizophr Res. 1995 Dec;18(1):9-20 PMID: 8929756
  3. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.
    Cleft Palate J. 1978 Jan;15(1):56-62 PMID: 272242
  4. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives.
    J Nerv Ment Dis. 1994 Aug;182(8):476-8 PMID: 8040660
  5. Minor physical anomalies and behavior in preschool children.
    Child Dev. 1968 Jun;39(2):391-400 PMID: 4172079
  6. Formal analysis of dysmorphism: objective methods of syndrome definition.
    Clin Genet. 1983 Jan;23(1):1-16 PMID: 6831757
  7. Centiles for adult head circumference.
    Arch Dis Child. 1992 Oct;67(10):1286-7 PMID: 1444530
  8. Chromosomal abnormalities and schizophrenia.
    Am J Med Genet. 2000 Spring;97(1):45-51 PMID: 10813803
  9. A neurodevelopmental approach to the classification of schizophrenia.
    Schizophr Bull. 1992;18(2):319-32 PMID: 1377834
  10. From neuropathology to neurodevelopment.
    Lancet. 1995 Aug 26;346(8974):552-7 PMID: 7544856
  11. Minor physical anomalies in schizophrenia.
    J Nerv Ment Dis. 1994 Nov;182(11):639-44 PMID: 7964672
  12. Tardive dyskinesia in schizophrenia. Relationship to minor physical anomalies, frontal lobe dysfunction and cerebral structure on magnetic resonance imaging.
    Br J Psychiatry. 1995 Jul;167(1):41-4 PMID: 7551606
  13. The numerical versus intuitive approach to syndrome nosology.
    Birth Defects Orig Artic Ser. 1980;16(5):93-104 PMID: 6449971
  14. Investigation of Turner syndrome in schizophrenia.
    Am J Med Genet. 2000 Jun 12;96(3):373-8 PMID: 10898917
  15. What's in a face?
    Nat Genet. 1996 Feb;12(2):124-9 PMID: 8563748
  16. Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.
    Biol Psychiatry. 1999 Nov 15;46(10):1436-42 PMID: 10578458
  17. Minor physical anomalies in schizophrenic patients and their siblings.
    Am J Psychiatry. 1998 Dec;155(12):1695-702 PMID: 9842778
  18. Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome.
    Biol Psychiatry. 2002 Feb 1;51(3):208-15 PMID: 11839363
  19. IQ and risk for schizophrenia: a population-based cohort study.
    Psychol Med. 1997 Nov;27(6):1311-23 PMID: 9403903
  20. Preliminary evidence for an association between minor physical anomalies and second trimester neurodevelopment in schizophrenia.
    Psychiatry Res. 1994 Aug;53(2):119-27 PMID: 7824672
  21. Implications of normal brain development for the pathogenesis of schizophrenia.
    Arch Gen Psychiatry. 1987 Jul;44(7):660-9 PMID: 3606332
  22. The Williams syndrome: objective definition and diagnosis.
    Clin Genet. 1984 May;25(5):422-8 PMID: 6723102
  23. 22q11 deletion syndrome in adults with schizophrenia.
    Am J Med Genet. 1998 Jul 10;81(4):328-37 PMID: 9674980
  24. Neuroanatomy of comorbid schizophrenia and learning disability: a controlled study.
    Lancet. 1999 Nov 27;354(9193):1867-71 PMID: 10584724
  25. Chromosome 22qII deletions. An under-recognised cause of idiopathic learning disability.
    Br J Psychiatry. 1998 Feb;172:180-3 PMID: 9519073
  26. Phenotype of adults with the 22q11 deletion syndrome: A review.
    Am J Med Genet. 1999 Oct 8;86(4):359-65 PMID: 10494092
  27. Genetics, chance, and morphogenesis.
    Am J Hum Genet. 1987 Dec;41(6):979-95 PMID: 3687945
  28. Results of the DSM-IV mood disorders field trial.
    Am J Psychiatry. 1995 Jun;152(6):843-9 PMID: 7755112
  29. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
    Lancet. 1992 May 9;339(8802):1138-9 PMID: 1349369
  30. High rates of schizophrenia in adults with velo-cardio-facial syndrome.
    Arch Gen Psychiatry. 1999 Oct;56(10):940-5 PMID: 10530637
  31. Mixture Model Tests Of Hierarchical Clustering Algorithms: The Problem Of Classifying Everybody.
    Multivariate Behav Res. 1979 Jul 1;14(3):367-84 PMID: 26821856
  32. 22q11 deletion syndrome: a genetic subtype of schizophrenia.
    Biol Psychiatry. 1999 Oct 1;46(7):882-91 PMID: 10509171
  33. Increased head circumference in schizophrenia.
    Biol Psychiatry. 1996 Dec 1;40(11):1173-5 PMID: 8931921
  34. Genetics advances and learning disability.
    Br J Psychiatry. 2000 Jan;176:12-9 PMID: 10789320
  35. Minor physical anomalies in alcoholic and schizophrenic adults and hyperactive and autistic children.
    Am J Psychiatry. 1982 May;139(5):640-3 PMID: 7072852
  36. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.
    Ann Genet. 1995;38(2):59-76 PMID: 7486827
  37. Familial, obstetric, and other clinical correlates of minor physical anomalies in schizophrenia.
    Am J Psychiatry. 1991 Apr;148(4):479-83 PMID: 2006694
  38. Towards earlier diagnosis of 22q11 deletions.
    Arch Dis Child. 1999 Dec;81(6):513-4 PMID: 10569971
  39. The incidence of minor physical anomalies in adult male schizophrenics.
    Schizophr Bull. 1983;9(4):571-82 PMID: 6658393
  40. Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22.
    Science. 2000 Apr 28;288(5466):678-82 PMID: 10784452
  41. Intraclass correlations: uses in assessing rater reliability.
    Psychol Bull. 1979 Mar;86(2):420-8 PMID: 18839484
  42. Brain imaging in neurogenetic conditions: realizing the potential of behavioral neurogenetics research.
    Ment Retard Dev Disabil Res Rev. 2000;6(3):186-97 PMID: 10982496
  43. Minor physical anomalies in schizophrenia.
    Schizophr Bull. 1989;15(1):91-9 PMID: 2717891
  44. Relationship between minor physical anomalies, perinatal complications, and psychiatric diagnoses in children.
    Psychiatry Res. 1981 Apr;4(2):181-8 PMID: 6452648
  45. The genetics of schizophrenia is the genetics of neurodevelopment.
    Br J Psychiatry. 1991 May;158:615-23 PMID: 1860016
  46. Minor physical anomalies in schizophrenia: cognitive, neurological and other clinical correlates.
    J Psychiatr Res. 2000 Jan-Feb;34(1):45-56 PMID: 10696832
  47. The relationship of minor physical anomalies and other putative indices of developmental disturbance in schizophrenia to abnormalities of cerebral structure on magnetic resonance imaging.
    Biol Psychiatry. 1995 Oct 15;38(8):516-24 PMID: 8562663
  48. Minor physical anomalies and their relationship to the aetiology of schizophrenia.
    Br J Psychiatry. 1996 Feb;168(2):139-42 PMID: 8837901
  49. The anthropometric assessment of dysmorphic features in schizophrenia as an index of its developmental origins.
    Psychol Med. 1997 Sep;27(5):1155-64 PMID: 9300519
  50. Relationship between physical anomalies and age at onset of schizophrenia.
    Am J Psychiatry. 1987 May;144(5):666-7 PMID: 3578581
  51. 'Pfropfschizophrenie' revisited. Schizophrenia in people with mild learning disability.
    Br J Psychiatry. 1998 Aug;173:145-53 PMID: 9850227
  52. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
    Proc Natl Acad Sci U S A. 1995 Aug 15;92(17):7612-6 PMID: 7644464
  53. Minor physical anomalies in familial and sporadic schizophrenia: the Maudsley family study.
    J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):56-60 PMID: 9436728
  54. Minor physical anomalies in schizophrenia patients, bipolar patients, and their siblings.
    Schizophr Bull. 1994;20(3):433-40 PMID: 7973464
  55. Link between pregnancy complications and minor physical anomalies in monozygotic twins discordant for schizophrenia.
    Am J Psychiatry. 1994 Aug;151(8):1188-93 PMID: 8037254
  56. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.
    Am J Med Genet. 1997 Sep 19;74(5):538-43 PMID: 9342208
  57. The neurodevelopmental basis of schizophrenia: clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease.
    Biol Psychiatry. 1999 Jul 1;46(1):31-9 PMID: 10394472
  58. Minor physical anomalies in schizophrenia and mood disorders.
    Schizophr Bull. 1993;19(3):551-6 PMID: 8235457
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
DOI
10.1002/ajmg.1612
Published
2001-12-08
Pages
713-23
Language
English
Region
United States
NLM ID
7708900
PMCID
PMC3142273
Subset
IM
Grants
Canadian Institutes of Health Research · 97800 · Canada
External Links
PubMed source DOI: 10.1002/ajmg.1612 PMC Full Text
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