Stories about: Williams syndrome

Chloe’s smile: Moving the needle on Williams syndrome research

Chloe is cared for at the Boston Children's Williams Syndrome Clinic.
“Because of your smile, you make life more beautiful.” ~ Thich Nhat Hanh

Her wide, warm smiles are generous. Even strangers can’t resist smiling back. “Chloe loves people and relationships,” says her mom, Johanna. “She can completely change a person’s demeanor with one of her incredible smiles.”

Now, Chloe’s powerful smile is bringing together supporters and scientists to advance research on Williams syndrome, the rare neurodevelopmental disorder she was born with 11 years ago.

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Rare genetic disorder explored on 20/20

Tonight, ABC’s 20/20 will offer its viewers a glimpse into a life without fear. The episode will document a summer camp for children with Williams Syndrome, a rare genetic condition that affects a person’s heart and cognitive development, but also makes them overly empathetic and practically unable to experience social inhibitions, fear or distrust.

For nearly two decades Children’s Hospital Boston has run a multidisciplinary clinic for people with Williams. Thrive caught up with Leslie Smoot, MD, director of Children’s Williams Syndrome Clinic, to learn more about this rare and interesting condition.

Leslie Smoot, MD

What are some of the early signs that may indicate Williams syndrome?

Early diagnosis of Williams syndrome in children may come to attention due to findings of cardiovascular disease in infancy, failure to thrive, slow growth or feeding difficulties. In cases where children are diagnosed a littler later, it’s usually because of noticeable developmental delays involving speech and motor difficulties. Some Williams syndrome patients also often have a distinct facial appearance, with slightly more narrow features and a broader smile. These attributes, when combined with specific manners or behaviors, are what usually prompt tests for Williams syndrome. Thanks to advancements in genetic testing, which have improved significantly in the past few years, the ability to clinically confirm a Williams syndrome diagnosis is much faster than it was in the past. But even in our high-tech era, it’s also very common for the initial recognition of Williams syndrome to come from someone who lives with or works with another person with Williams syndrome.

Williams syndrome has been in the news lately, but the coverage seemed to focus on a small aspect of the disorder…

In the past Williams syndrome has received media attention for some of its more unique aspects, including what has been labeled a “cocktail party personality” – describing the sociability and outwardly friendly behaviors often seen in individuals with Williams syndrome. Things like a lack of racial bias or increased musical talent and empathic behavior have also been ascribed to be more prevalent in Williams individuals. These seemingly positive attributes can pose their own challenges as children and adults try to develop stable, healthy relationships. For example, if left to their own devices many young kids with Williams syndrome could wander off with anyone without knowing that it’s not safe. When you combine the attention difficulties some Williams syndrome kids have with that distinct lack of social fear, they’re at a very high risk of being vulnerable to danger.

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This week on Thrive: May 17 – May 21

Here’s a look at what Thrive did this week.

A cutting-edge tool called a chromosomal microarray could help make genetic testing for disabilities more accurate and help explain their causes. David Miller, MD, PhD, clinical geneticist in the Division of Genetics at Children’s Hospital Boston talked to Thrive about the findings, and what they mean for the future of genetic testing.

A study published in the latest issue of Pediatrics takes a closer look at the relation between the ingestion of certain pesticides and cases of attention deficit hyperactivity disorder in children. Children’s Hospital Boston’s Robert Wright, MD, MPH, and David Bellinger, PhD were co-authors on the study. Wright explained to Thrive readers what the study found and what it means for parents.

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Kids with rare genetic disorder may be immune to racial biases

black and white kids handsA fascinating study conducted by CNN for its special “Black or White: Kids on Race” series revealed that many children have racial biases very early on in life. But imagine what it would be like to not be able to recognize— or care— that someone is different? Such is the case with Williams syndrome, a rare genetic disorder that leaves those affected by it free of fear in social situations. As one mother of a child with Williams syndrome said, to her daughter, “There’s no such thing as strangers, just friends she hasn’t met yet.”

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