A Genetic Etiology of Pervasive Developmental Disorder Guides Treatment

ArticleinAmerican Journal of Psychiatry 164(4):575-80 · April 2007with10 Reads
Impact Factor: 12.30 · DOI: 10.1176/appi.ajp.164.4.575 · Source: PubMed

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Available from: psychiatryonline.org
    • "This case was chosen because it illustrates how case formulation would be affected when a genetic " cause " can be identified, although there also are many aspects of the case that conform to the more common situation of disorders related to multiple genes and/or environmental factors or those with no known genetic origin. We have presented similar case materials with a different emphasis previously [11]. At level 4, the Symptom level, we evaluate Sarah's presenting problems, her medical and developmental history, and her medical examination. "
    [Show abstract] [Hide abstract] ABSTRACT: Rapid advances in molecular genetics and neuroimaging over the last 10 to 20 years have been a catalyst for research in neurobiology, developmental psychopathology, and translational neuroscience. Methods of study in psychiatry, previously described as "slow maturing," now are becoming sufficiently sophisticated to more effectively investigate the biology of higher mental processes. Despite these technologic advances, the recognition that psychiatric disorders are disorders of neurodevelopment, and the importance of case formulation to clinical practice, a neurodevelopmental model of case formulation has not yet been articulated. The goals of this article, which is organized as a clinical case conference, are to begin to articulate a neurodevelopmental model of case formulation, to illustrate its value, and finally to explore how clinical psychiatric practice might evolve in the future if this model were employed.
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  • [Show abstract] [Hide abstract] ABSTRACT: CGG-repeat expansion mutations of the fragile X mental retardation 1 (FMR1) gene are the leading known cause of autism and autism spectrum disorders (ASD). Full mutation expansions (>200 CGG repeats) of the gene are gen-erally silenced, resulting in absence of the FMR1 protein and fragile X syndrome. By contrast, smaller expansions in the premutation range (55-200 CGG repeats) result in excess gene activity and RNA toxicity, which is responsible for the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), and likely additional cases of devel-opmental delay and autism. Thus, the FMR1 gene is causative of a common (autism) phenotype via two entirely different pathogenic mechanisms, RNA toxicity and gene silencing. The study of this gene and its pathogenic mechanisms there-fore represents a paradigm for understanding gene-brain relationships and the means by which diverse genetic mecha-nisms can give rise to a common behavioral phenotype.
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