A Genetic Etiology of Pervasive Developmental Disorder Guides Treatment

Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California, Davis, Sacramento, CA 95817, USA.
American Journal of Psychiatry (Impact Factor: 12.3). 04/2007; 164(4):575-80. DOI: 10.1176/appi.ajp.164.4.575
Source: PubMed
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    ABSTRACT: Until recently, autism, along with the other developmental disabilities, was largely ignored by the medical and research community. At this early point in our understanding of the syndrome, neurobiologists and especially those who work with human brain tissue have a great deal to offer. A thorough understanding of the clinically defined syndrome is essential. Along with the other psychiatric diseases listed in the Diagnostic and Statistical Manual of Mental Disorders (DSM), autism is defined by gross behavioral macros that, in all probability, are only indirectly related to basic biological systems. The diagnostic schema is not etiologically based. The diagnostic triad of symptoms that defines autism--impaired communication, impaired social interaction, and restricted and repetitive interests and activities--has been found to be present in the general population with no clear demarcation between pathological severity and being a common trait. In addition, the three basic symptoms of autism appear not to associate highly, thus leaving undetermined the validity of studying autism in its currently defined triad of symptoms. It is proposed that a close working relationship between neurobiologists and clinicians is necessary in order to identify etiologically based diagnostic schemas that would complement, rather than replace, the clinical diagnosis.
    Brain Pathology 11/2007; 17(4):408-11. DOI:10.1111/j.1750-3639.2007.00103.x · 3.84 Impact Factor
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    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.
    Current Pediatric Reviews 02/2008; 4(1). DOI:10.2174/157339608783565770
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    ABSTRACT: This is the second article of a two-part professional development series on genetic counseling for personal and family histories of psychiatric disorders. It is based on an Educational Breakout Session presented by The Psychiatric Special Interest Group of the National Society of Genetic Counselors at the 2006 Annual Education Conference. While the first article in this two part series dealt with addressing family histories of psychiatric disorders in clinical practice, the following discussion deals with the generation and provision of individualized recurrence risks for psychiatric disorders, based on empiric risk data. We present four cases that illustrate important components of and process for generating individualized risk assessment for family histories of psychiatric disorders.
    Journal of Genetic Counseling 03/2008; 17(1):18-29. DOI:10.1007/s10897-007-9121-4 · 2.24 Impact Factor
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