Brain Oddities: Williams Syndrome

Brain oddities

Despite the apparent stability of my projected career path, I am, like most people my age, wildly indecisive and unpredictable when I think about what I’d like to do for a living. My future has included a variety of “potential” vocations ranging from high school science teacher to tattoo artist (it was just a phase…). For eight year old Ashlyn Baer, however, the future seems all but a forgone conclusion.

“I want to help everybody when they get sick or get hurt, or if someone’s feelings are hurt,” she said in a recent ABC 20/20 piece entitled “Where Everybody Wants to be Your Friend” (video below).

“So you want to be a helper?” asked reporter Chris Cuomo.

“Oh, yes. It feels like an honor to me.”

Ashlyn seems well-suited for the type of occupation that requires a strong and earnest desire to help others, such as a doctor or social worker. But she will likely not become either of those things. Though she speaks clearly and enthusiastically, she exhibits a number of peculiar cognitive deficits, as do most people who share her disorder. Ashlyn has Williams syndrome (WS), a neurodevelopmental disorder affecting about 1 in 7,500 newborns and characterized by an array of symptoms, including cardiovascular problems, an “elfin” facial appearance, and various learning disabilities.

What makes Williams syndrome so interesting, however, are the symptoms related to language and social situations. Many children with WS have precocious language development (in some aspects of language) and superb vocabularies, and they are extremely social. They’re unusually cheerful, highly empathic, and have no hesitation to interact with strangers, which is both a blessing and a curse. Recently, it was also uncovered that children with Williams syndrome show no racial biases, unlike infants and children without WS. Strangely, the lack of fear demonstrated by WS individuals seems to be limited to social situations—people with WS have significant non-social fears of things like thunderstorms, loud noises, or high places.

Williams syndrome, and its puzzling constellation of symptoms, is caused by the deletion of 25 genes on the 7th chromosome, which has about 25,000 genes in total. How the deletion works to create the unique characteristics of WS is unknown, but some research posits that abnormal responses in the amygdala, a brain structure implicated in fear and anxiety, may be the reason for their fears or lack thereof. Specifically, imaging studies have shown that, compared to controls, WS individuals have a stronger amygdala response to non-social fear stimuli and a weaker amygdala response to social fear stimuli (i.e. strangers). This amygdala activity, coupled with the lack of racial bias and indiscriminate sociability, suggests more complex atypical interactions between other neural circuits, perhaps those involved in inhibition and reward.

Despite the mysteries of Williams syndrome, it’s clear to those who have seen or met WS individuals that they are some of the warmest and most welcoming people you will ever meet. In the words of Dr. Helen Tager-Flusberg of Boston University, “We aspire to have a little bit of Williams syndrome in all of us.” Or at least we should.

–Caitlin Schneider

Source:

Thornton-Wells, T.A., Avery, S.N., Blackford, J.U. (2011). Using novel control groups to dissect the amygdala’s role in Williams syndrome. Developmental Cognitive Neuroscience, 1:295-304.

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