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Journey from Cognition to Brain to Gene PDF

Journey from Cognition to Brain to Gene PDF Free Download: Perspectives from Williams Syndrome

Journey from Cognition to Brain to Gene PDF Free Download

Late one evening in 1985 the phone rang in Dr. Ursula Bellugi’s lab at the Salk Institute. The woman on the phone began by saying “Noam Chomsky told me to call you . . .” The woman described her daughter, age 14, who seemed to have a rare syndrome in which her engaging language abilities remarkably masked her low IQ of 49. After some coaxing, as this was not her area of expertise, Bellugi reluctantly agreed to meet with the child who had been diagnosed with Williams Syndrome (WMS). In an exciting first meeting, the girl exemplified what would turn out to be one of the hallmarks of the syndrome: a dissociation between visuospatial and language abilities (see Figure 1). Her drawing of an elephant was unrecognizable without the verbal labels we added as she talked her way through the drawing. In contrast, her description of an elephant was grammatically fluent with complex sentences including what an elephant is, what it does, what it has (“It has a long trunk that can pick up grass or pick up hay . . . you don’t want an elephant as a pet, you want a cat or a dog or a bird”).

Bellugi agreed to meet with the child weekly, and every imaginable cognitive test was given to her over the following year in an attempt to begin to understand what appeared to be an unusual profile of the syndrome in one individual. At the time these studies began, Bellugi had expertise in the effects of right and left hemisphere lesions and the relative sparing and impairment of language and spatial abilities, resulting from her studies of the neurobiology of language in deaf signers. Although not known at the time, this would turn out to be an interesting background with which to approach the WMS puzzle. Near the end of this initial year of testing, the first meeting of a Williams Syndrome Association was held in San Diego in 1984, with several families attending. At this time there were only 60 identified cases of WMS in the country. Nothing was known of the genetics of the syndrome. In fact little had been published at all on WMS other than a few studies of IQ, which were inconclusive. A medical intern had begun to study the possible contribution of high levels of calcium in the blood to the syndrome. This idea sparked a first attempt at finding the gene associated with WMS based on the hypothesis that it might be related to calcitonin gene related peptide. This first attempt, however, was not as fruitful as the following one would be.

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