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Updated: May 28, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Schizophrenia: family studies and treatment of spectrum disorders
M T Tsuang1, W S Stone, S V Faraone
1Harvard Medical School Department of Psychiatry at the Massachusetts Mental Health Center; Brockton West Roxbury Veterans Affairs Medical Center; Harvard Institute of Psychiatric Epidemiology and Genetics, Boston, Mass, USA; Department of Epidemiology, Harvard School of Public Health, Boston, Mass, USA.
Abstract:
A substantial part of the contribution of genetic studies to the treatment of schizophrenia involves its emphasis on reliable and valid diagnoses. One consequence of this focus is the recognition that schizophrenic illness is broader than the diagnostic entity of schizophrenia itself, and instead consists of a "spectrum" of related disorders. Because some of the symptoms in these disorders differ from each other, they provide an opportunity to determine which ones reflect a common etiology. To the extent that such symptoms are identifiable, they may provide a foundation for treatment and even prevention strategies. In this paper, we focus on a clinical condition - "schizotaxia" - that may reflect the liability for schizophrenia. To characterize the nature and extent of this proposed syndrome, we will review results from family studies in our laboratory, and consider conceptual foundations and criteria for assessment. A more general consideration of treatment strategies for schizophrenia spectrum disorders follows, along with suggestions for future research. Our initial attempts to treat and validate schizotaxia are encouraging, and raise the possibility that early treatment might eventually prevent or attenuate the development of other, more severe disorders in the schizophrenia spectrum, including schizophrenia itself.
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