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Sex chromosome anomalies in childhood onset schizophrenia: an update

Molecular Psychiatry volume 13, pages 910–911 (2008)Cite this article

Schizophrenia is a debilitating brain disorder characterized by hallucinations, delusions, disordered thinking, diminished emotion and cognitive impairment. Age of onset of schizophrenia is typically in late adolescence and early adulthood. Given a worldwide prevalence of approximately 1%, schizophrenia is the fourth leading cause of disability and is a major public health burden. Family, twin and adoption studies have demonstrated a large genetic component, with estimates of heritability around 81%.1

Childhood onset schizophrenia (COS) is rare, with the prevalence estimated to be approximately 1/300th the rate of the more typical adult onset form. As has been the case for other complex disorders such as breast cancer and Alzheimer's disease, the study of extreme early onset cases might facilitate the discovery of disease genes.2 Since 1990, we have recruited and rigorously characterized 92 patients with COS.3 None of these patients had notable dysmorphologies indicative of an obvious chromosomal anomaly. However, there was an increased rate of early pre-psychotic neurodevelopmental disorders relative to that seen in adult onset patients.4 Such disorders are seen in many genetic syndromes of pediatric onset;5 the mean intelligent quotient (IQ) of this group was 80, somewhat lower than that of adult onset patients. Follow-up every 2 years for reevaluation confirms the stability of the diagnosis of schizophrenia and has shown continuity with the more common adult onset form of the disorder (AOS).3, 6 Previously we reported that high resolution karyotyping and fluorescent in situ hybridization revealed four cases with the typical 3 Mb 22q11 deletion,7 one case with atypical Turner's syndrome (46,X,del(X)(q24-ter),8 and one case with an inherited 1;7 balanced translocation.9 The rate of 4 out of 92 cases for 22q11 deletion is significantly higher than that seen in samples of unselected patients with AOS.7 In addition, one case with 5q32-ter segmental uniparental isodisomy (35 Mb) was observed through loss of heterozygosity on the Affymetrix NspI 250K single nucleotide polymorphism (SNP) array and confirmed with genotyping of microsatellite markers.10

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Authors and Affiliations

  1. Child Psychiatry Branch, National Institute of Mental Health, NIH, Bethesda, MD, USA

    K Eckstrand, A M Addington, T Stromberg, R Miller, P Gochman, R Long & J L Rapoport

  2. Department of Human Genetics, University of California, Los Angeles, CA, USA

    B Merriman, Z Chen & S F Nelson

  3. Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA

    A Dutra

  4. Cancer Genetics Branch, National Cancer Institute, NIH,, Bethesda, MD, USA

    P Meltzer

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  1. K Eckstrand
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  2. A M Addington
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Correspondence to A M Addington.

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Eckstrand, K., Addington, A., Stromberg, T. et al. Sex chromosome anomalies in childhood onset schizophrenia: an update. Mol Psychiatry 13, 910–911 (2008). https://doi.org/10.1038/mp.2008.67

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