William's Syndrome

Ever had it before? Well you got it again.
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Rob Lister
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William's Syndrome

Post by Rob Lister »

If I had to pick a disability to be born with, it would be William's Syndrome.

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ed
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Re: William's Syndrome

Post by ed »

Williams syndrome (WS) is a genetic disorder that affects many parts of the body.[3] Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as "elfin".[3][5] While mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing is typical, verbal skills are generally relatively unaffected.[3] Those affected often have an outgoing personality, interact readily with strangers, and appear happy.[3][5] Problems with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.[2][3]

Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s.[3][5] Typically this occurs as a random event during the formation of the egg or sperm from which a person develops.[3] In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner.[3] The different characteristic features have been linked to the loss of specific genes.[3] The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.[2]

Treatment includes special education programs and various types of therapy.[2] Surgery may be done to correct heart problems.[2] Dietary changes or medications may be required for high blood calcium.[2] The syndrome was first described in 1961 by New Zealander John C. P. Williams.[6][7] Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth.[5] Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.[4]
https://en.wikipedia.org/wiki/Williams_syndrome

WTF are you on about Rob?
About that stereo
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Anaxagoras
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Re: William's Syndrome

Post by Anaxagoras »

I guess it does have an up side.
Those affected often have an outgoing personality, interact readily with strangers, and appear happy.[3][5]
That's the key sentence. Other than that, not exactly a great thing to have.
A fool thinks himself to be wise, but a wise man knows himself to be a fool.
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ed
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Re: William's Syndrome

Post by ed »

Sounds like a person on drugs.
About that stereo
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Anaxagoras
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Re: William's Syndrome

Post by Anaxagoras »

She's a lovely girl though. I hope she has a happy life.
A fool thinks himself to be wise, but a wise man knows himself to be a fool.
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Anaxagoras
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Re: William's Syndrome

Post by Anaxagoras »

ed wrote: Fri Aug 07, 2020 10:44 am Sounds like a person on drugs.
For all I know maybe that's what it's like. I don't have the condition so I wouldn't know, but I do know how my personality changes when I've been drinking. I'm normally not very talkative or outgoing, but I can talk your ear off sometimes if I've been drinking and you can't escape. :P
A fool thinks himself to be wise, but a wise man knows himself to be a fool.
William Shakespeare
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Doctor X
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Re: William's Syndrome

Post by Doctor X »

Looking through the literature on the syndrome, you have lack of development of control pathways from the frontal regions which are areas that get depressed by alcohol.

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sparks
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Re: William's Syndrome

Post by sparks »

So a 'genetic drunk' then?

I could have saved a shit load of money...
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Re: William's Syndrome

Post by Doctor X »

Though, to take it seriously, they are not drunk.

It appears that they are, perhaps, disinhibited.

– J.D.
Mob of the Mean: Free beanie, cattle-prod and Charley Fan Club!
"Doctor X is just treating you the way he treats everyone--as subhuman crap too dumb to breathe in after you breathe out." – Don
DocX: FTW. – sparks
"Doctor X wins again." – Pyrrho
"Never sorry to make a racist Fucktard cry." – His Humble MagNIfIcence
"It was the criticisms of Doc X, actually, that let me see more clearly how far the hypocrisy had gone." – clarsct
"I'd leave it up to Doctor X who has been a benevolent tyrant so far." – Grammatron
"Indeed you are a river to your people.
Shit. That's going to end up in your sig." – Pyrrho
"Try a twelve step program and accept Doctor X as your High Power." – asthmatic camel
"just like Doc X said." – gnome

ImageWS CHAMPIONS X4!!!! ImageNBA CHAMPIONS!! Stanley Cup!Image SB CHAMPIONS X6!!!!!! Image
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sparks
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Re: William's Syndrome

Post by sparks »

Fascinating.
You can lead them to knowledge, but you can't make them think.