Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.
Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine "experiments of nature" in which the deletion or alteration of one gene or a contiguous set of genes can be linked to aberrant brain structure or function. Converging evidence across multiple imaging modalities has now begun to highlight the abnormal neural circuitry characterizing many individual neurogenetic syndromes. Furthermore, there has been renewed interest in combining analyses across neurogenetic conditions in order to search for common organizing principles in development. In this review, we highlight converging evidence across syndromes from multiple neuroimaging modalities, with a particular emphasis on functional imaging. In addition, we discuss the commonalities and differences pertaining to selective deficits in visuospatial processing that occur across four neurogenetic syndromes. We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations.
Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA 94305, USA. ewalter@stanford.edu
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Walter
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Mazaika
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Reiss
D000818:Animals; D001921:Brain / Q000254:growth & development* / Q000503:physiopathology; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000503:physiopathology; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008959:Models, Neurological; D013028:Space Perception / Q000502:physiology; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology; D014796:Visual Perception / Q000502:physiology; D018980:Williams Syndrome / Q000235:genetics* / Q000503:physiopathology