A Genetic Etiology of Pervasive Developmental Disorder Guides Treatment
[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.0Comments 3Citations
- "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 . 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: 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.0Comments 16Citations
- [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.0Comments 56Citations
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