Reviews of Note
Reviews of Note
Schizophrenia, pathological gambling, autism spectrum disorders, and resources on genetic testing and research
Schizophrenia: All that a clinician needs to know. This is an absolutely splendid review of schizophrenia coauthored by one of the world’s leading schizophrenia experts.1 The review is ideal for the practicing clinician who does not often see or treat such patients but would like a focused, succinct overview of presentation, epidemiology, contribution of genes and specific environmental risk factors, the importance of early recognition, and specific medications and psychological treatments that have been documented as useful in acute and long-term management. This review would also be terrific for first-year psychiatric residents beginning their inpatient rotations. While it is short and sweet, it contains virtually every recent development, presented briefly but quite accurately.
Pharmacotherapy for pathological gambling. Does your patient have a gambling problem? This relatively short review and meta-analysis2 provides a detailed table summarizing the characteristics and results of 16 controlled medication trials for pathological gambling (10 studies of antidepressants, 3 of mood stabilizers, and 3 of opiate antagonists). All medications seemed to work with modest effect size, especially in women, and none had a particular advantage, but effects were widely variable and much lower than those reported elsewhere for psychological treatments. Methodological shortcomings accounted for the large variation in reported effects, and the reviewers conclude with a cautious, and not overly enthusiastic, comment that medications might be useful.
A snapshot of autism spectrum disorders. This comprehensive review3 of autism spectrum disorders (and introduction to a group of related articles) covers quantifiable features — e.g., large head circumference, familial aggregation, genetic aberrations including the increasingly recognized copy number variants, and changes in gamma spectrum on EEG. Also discussed are cognitive and perceptual features, such as overperception of detail and underperception of global concepts, and the various theories of autism, such as male brain and the lack of theory of mind.
Horizons of mendelian inheritance. Genetic pioneer Dr. Victor McKusick reviews the development of the Mendelian Inheritance in Man (MIM) resource from its inception in the 1960s to the present.4 This wonderful, panoramic view begins with the initial print version, which was organized into autosomal dominant, autosomal recessive, and X-linked catalogs, and the later addition of Y-linked and mitochondrial catalogs. McKusick continues to descriptions of the online version (OMIM) starting in 1987 and the current method of categorizing by allelic variants, phenotypic specificity of polymorphisms, and molecular basis for clinical presentations. OMIM is a great resource not only for practitioners, but also for families, as the format is user-friendly and written so that lay people can understand the clinical descriptions.
An online primer about genetic testing. This essay describes the federally funded website (http://www.genetests.org) of the GeneTests project.5 Writers continually update their articles on genes, the associated phenotypes, and available tests. Also available are lists of clinical and research laboratories and genetic counseling clinics. An easy-to-use glossary provides helpful graphics. This resource should be useful to clinicians and lay persons.
Caveats about commercial tests of genetic ancestry. This review points out the pitfalls of testing patients’ genes for their ancestral background.6 Patients may change their medical care if they believe their ancestral underpinnings make them more or less prone to particular genetic diseases, but do not realize that the testing is only probabilistic and may not be accurate. The authors give examples of inaccuracies — e.g., an ancestry informative marker of one commercially available test that suggests that people from India have Native American ancestors.