In this lecture, I?m going to discuss Willams Syndrome.
So Williams Syndrome is a microdeletion on chromosome 7q11.23
which contains the Williams-Beuren syndrome critical region or the WBSCR.
The WBSCR has 3 genes which actually relate
to some of the presentational findings in patients with Williams Syndrome.
There?s one that codes for elastin,
another one that codes for cognitive defects
and another codes for personality.
This is an autosomal dominant disease
that?s mostly de novo mutations
and it happens in roughly 1 in 10,000 live births.
How do these patients present?
They often have short stature and they have characteristic,
what we would say, ?elfin" facies. They look like little elves.
They have a transient neonatal hypercalcemia.
The cause of which is not at all understood
but it can be quite severe.
So we worry about Williams Syndrome in patients who in the newborn period,
present with a hypercalcemia that will gradually resolve over several months.
They can also have a congenital heart disease,
most commonly supravalvular aortic stenosis like you can see in this patient.
These patients will have mild to moderate learning difficulties,
not severe but mild to moderate.
They may have failure to thrive as well, difficulty growing early on.
One of the classic features of these genetic syndrome
is a cocktail type of personality.
Let me explain what that means.
What that means is they're incredibly friendly,
they?re incredibly engaging and when you speak with them verbally,
they seem very astute, but when you drill down into a subject,
you discover they have not such a sophisticated understanding
of any sort of depth of content of what they?re speaking about.
In other words, they?re like somebody you might encounter at a cocktail party,
fun to get along with them, fun to meet them
but maybe you don?t get to know them so well.
They often have connective tissue abnormalities,
elastin defects that allow them to be maybe more hypermobile.
So the cocktail party personality is interesting.
They have a lower IQ but actually have a higher verbal IQ.
Additionally, they have a lack of social inhibition which is truly remarkable.
In many ways, children with Williams Syndrome
exemplify of what we should all be.
In one study of behavior of these children,
researchers found that 100% of them had a kindred spirit approach,
90% sought the company of others,
87% empathized with others in pain,
84% were caring and 75% were happy when others did well.
These children engaged very well socially.
So if we suspect Williams Syndrome, how do we test?
The diagnosis is based on a microarray genetic study.
If we test someone and they are positive,
we should screen them for underlying abnormalities.
They require an echo to check for cardiac anomalies
like the supravalvular aortic stenosis.
They require a renal ultrasound.
We need to do an eye exam on them to make sure that?s normal.
They require also an auditory exam.
At birth, these infants need a calcium check
and we need to watch that very closely during the first few months.
That hypercalcemia can be very challenging to manage
and it?s very reasonable to check them also
to make sure that their thyroid hormones are normal.
So we?ll do all this as a screening approach if they test positive.
So that?s my brief review of Williams Syndrome in kids.
Thanks for your time.