View Full Version : "New" syndrome (Sorry, just found this fascinating)

07-21-13, 08:52 PM
Williams Syndrome has been a known entity for a while now. Usually, people with the disorder are quite social and relatively verbally adept, often quite outgoing and (sometimes inappropriately) socially forward. It is caused by a deletion of a specific chromosomal region (loss of genes).

More recently, *another* syndrome has been identified. This syndrome affects the same genetic region, only instead of deletion of genetic material, there's a *duplication*, i.e., people have double the genes in that particular region.

The thing I find interesting about this syndrome are the symptoms:

The most striking feature are expressive language delays, characterized by oral dyspraxia (motor difficulties that make speech difficult).

Whereas people with Williams Syndrome are outgoing, these kids tend to be shy, and many of them are diagnosed with at least one anxiety disorder, often times specific phobias, sometimes with selective mutism.

Over half of the kids had ADHD-like symptoms, and many had ODD like behaviors as well.

In the paper I read, there is some concern that these kids might be misdiagnosed as autistic, because of the combination of being shy/anxious around strangers, and having significant expressive language delays. df