Autism hot spot.

Today was a the kind of day that could have gone very bad quickly. We had a pediatric sedation case. The child  had autism. First of all, children can be difficult to sedate with liquid medication if they will not swallow it. We were very lucky everything went perfect. It went off without a hitch. I must say we have some of the best Nurses working in our department. I think they are terrific. I saw the following article in the NEJM. Here is a bit of it take a look at the rest for yourself.

Published at http://www.nejm.org January 9, 2008 (10.1056/NEJMe0708756)

A Hot Spot of Genetic Instability in Autism

Evan E. Eichler, Ph.D., and Andrew W. Zimmerman, M.D.

Sixty-five years after Leo Kanner first described autism,1 we are beginning to move beyond description of this clinically heterogeneous neurobehavioral syndrome toward a deeper understanding of its biologic complexity. In areas such as genetics and neuroscience, researchers have joined the search for objective measures to elucidate autism’s pathogenesis.

It has become clear that the solutions to autism will be neither simple nor uniform among patients with various autistic syndromes. At least 60 different genetic, metabolic, and neurologic disorders have been associated with autism and involve approximately 10% of patients, whose clinical presentations frequently vary, even among those with known disorders.2 For example, some (but not all) children with Rett’s syndrome, the fragile X syndrome, Down’s syndrome, fetal valproate embryopathy, or congenital rubella may also present with autism. …………….

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