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Consider the pixies....
December 3, 2007 9:11 AM   Subscribe

Williams syndrome is a rare genetic disorder characterized by distinctively "elfin" facial features, an uncanny ability to socialize with strangers, and, often, enhanced musical abilities.
posted by dersins (72 comments total) 23 users marked this as a favorite

 
no comment.
posted by dersins at 9:11 AM on December 3, 2007 [1 favorite]


Heard Oliver Sacks mention Williams Syndrome on the radio the other day when he was promoting his new book on how the brain processes music.
posted by fearfulsymmetry at 9:17 AM on December 3, 2007


I'd never heard of this syndrome until I saw the Scientific American Frontiers episode where Hawkeye talks to them. You can watch the clip here.
posted by Greg Nog at 9:20 AM on December 3, 2007


Fascinating. I wonder if this explains the various treatments that "elven" characters get in literature - feared, liked, evil/good, etc.
posted by Zinger at 9:25 AM on December 3, 2007


You mean like every other type of character in literature?
posted by edgeways at 9:29 AM on December 3, 2007 [8 favorites]


"I'd never heard of this syndrome until I saw the Scientific American Frontiers episode where Hawkeye talks to them."

Poor Alan Alda, forever Hawkeye. Better than a lifetime of being Frank Burns, I guess.
posted by mr_crash_davis at 9:33 AM on December 3, 2007


I saw a documentary on this with my mother. We joked lightly about how Mick Jagger seemed to fit the profile: dropped out of London School of Economics (bad at math?), great musician, really sociable, elfin features. But genetic disorders are bad news all around — these folks are not self-reliant, though they might have predispositions for certain talents.
posted by Blazecock Pileon at 9:33 AM on December 3, 2007 [2 favorites]


My cousin's aunt on the other side had this. She recently passed away due to heart problems and donated her body to science - since so few people have this, getting a body to study is a great boon. Such a sweet lady.
posted by notsnot at 9:34 AM on December 3, 2007


The third link is the best, although there are aspects of this guy's writing that get up my nose. The YouTube video was a mite scholcky and manipulative.

Interesting disorder, suggestions that we are naturally gregarious and that our perceptions of others and fear tend to make us less so.
posted by edgeways at 9:37 AM on December 3, 2007


Oh, man this totally explains Joanna Newsom.
posted by signalnine at 9:38 AM on December 3, 2007 [7 favorites]


I had a strange interaction with a Williams guy one time. I was working midnight madness at the Levi's store in high school, and the mall was jammed with people. I saw some older guy staring at me outside the store with a goofy grin on his face. After I made eye contact with him a couple times, he came striding up to me with his hand held out to shake my hand. He said "you are nice" and instead of shaking my hand when I offered it, he grabbed it and kissed it. Then he hugged me tight and said "you are nice" again. Then he just sort of hovered around smiling at me and telling me random facts about clothes, shopping, food, etc. for a few minutes. I was a little bit taken aback, and after his family came and got him I made a joke about how I "should have kicked that guy in the head." I felt really bad about saying that! Anyhow he was almost definitely a Williams guy based on the article and the clip.
posted by autodidact at 9:41 AM on December 3, 2007


Don't overinterpret the "elfin" description or the "musically gifted" part. My previous next door neighbor has a daughter with Williams Syndrome. She is indeed outgoing and social and loves music, but she's also "developmentally delayed" (or whatever the current politically correct term for mentally retarded is), stuck at the developmental age of a preschooler, even though she is now in her early 20s. She will never be able to live on her own, though she will probably do well in a group home with other high-functioning mentally disabled people.
posted by briank at 9:44 AM on December 3, 2007 [1 favorite]


Absolutely, Blazecock Pileon!

I came into this thread to say something about Jagger; I wonder if Williams Syndrome has anything to do with his widely bruited-about other salient features.
posted by jamjam at 10:02 AM on December 3, 2007


Here's a photo essay about Jeremy Vest, the subject of the last link.
posted by whimsicalnymph at 10:17 AM on December 3, 2007


Be sure to check out this previous thread.
posted by ericb at 10:18 AM on December 3, 2007


And in any case, Mick Jagger? Elfin? (And, I would personally argue, musically gifted?)
posted by DU at 10:19 AM on December 3, 2007


I had previously learned about Williams Syndrome on TV (is there anything that TV can't do?) on a show that I find creating it's own kind of deja vu: Law and Order (the SVU flavor). Savant

Do you also find yourself saying, "didn't I see a Law and Order about that?"
posted by cptnrandy at 10:29 AM on December 3, 2007


The fact that they like to wear tights doesn't help either.
posted by Mr_Zero at 10:29 AM on December 3, 2007


So now they have turned being a Eleven changeling into a medical condition? It's time we stopped pathologizing everything!
posted by Astro Zombie at 10:39 AM on December 3, 2007 [1 favorite]


They're a lot cuter looking than "regular" kids. I think most kids are ugly, but maybe that's because I'm a teacher and I've seen them all at their absolute worst.
posted by HotPatatta at 10:40 AM on December 3, 2007


If we are going to discuss 'elfin' performers with great musical skill, one would be remiss to not at least mention David Bowie, though only because he is the Elvin King, and not because he has Williams syndrome.

Interesting subject though. I was sure when I saw the "'elfin' facial features" in the post that it was going to be discussing primordial dwarfism.
posted by quin at 10:41 AM on December 3, 2007


I am right in the middle of the chapter on Williams' Syndrome in neurologist Oliver Sacks' new book Musicophilia. The book is worth reading if you're interested in the brain and/or musical abilities/disabilities. Other subjects covered include: the phenomenon of perfect pitch, temporal lobe disorders and their role in the development of musical obsessions or new musical talents, tinnitus and musical hallucinations, and the retention of musical memories and skills in dementia.

I know, some people find Sacks overly precious as a writer. I don't mind him, though I didn't like Uncle Tungsten; I'd rather hear him be precious about something other than himself. His writing is clear and he has a trillion interesting stories about patients and historical figures and their interesting brain situations.
posted by gillyflower at 10:41 AM on December 3, 2007


It is a microdeletion on chromosome 7. The extent and severity of the symptoms depend on how many genes have been deleted. There is another syndrome, Angelman syndrome, also a microdeletion but on chromosome 15: the patients are happy, with big smiles, and the disease is also called "happy puppet syndrome"
posted by francesca too at 10:44 AM on December 3, 2007 [2 favorites]


"Frustrated, he uttered the first words of his life: "Jesus Christ, this doesn't work!""

Eerily similar to the first comments of many a user on Metafilter.
posted by klangklangston at 10:45 AM on December 3, 2007 [3 favorites]


Interesting read. The article calls the opposite end of the Williams spectrum "sociapathic":

“Williams have great interest but little competence. But what about a person who has competence but no warmth, desire or empathy? That’s a sociopath. Sociopaths have great theory of mind. But they couldn’t care less.”

At first I was 0_o

then I was ;-) when this jumped out at me:

Metafilter: great theory of mind, but couldn’t care less.
posted by Doohickie at 10:47 AM on December 3, 2007


deviantArt.com is finally starting to make more and more sense to me now.
posted by PeterMcDermott at 10:50 AM on December 3, 2007


Aw, man. Mefi got totally scooped by Law and Order: SVU!

DUN-DUN
posted by robocop is bleeding at 10:51 AM on December 3, 2007 [1 favorite]


I think most kids are ugly, but maybe that's because I'm a teacher

Wow. Sounds like time for a career change.
posted by bigskyguy at 10:53 AM on December 3, 2007


And I wonder if this guy suffers from Williams Syndrome?
posted by PeterMcDermott at 10:54 AM on December 3, 2007 [1 favorite]


To expand on francesca too's comment, it is a microdeletion on 7q 11.23, which encompasses the gene responsible for the production of elastin, which gives blood vessels their 'springiness'. Without elastin they are significantly more rigid, causing the cardiovascular problems often associated with this Syndrome.
posted by langeNU at 10:58 AM on December 3, 2007 [1 favorite]


I wonder if this explains the various treatments that "elven" characters get in literature - feared, liked, evil/good, etc.

I'm sorry but this comment is just asinine..
posted by autodidact at 11:05 AM on December 3, 2007


I wonder if this explains the various treatments that "elven" characters get in literature - feared, liked, evil/good, etc.

I'm sorry but this comment is just asinine..


Taking your "asinine" comment at face value, may I ask why you think so, autodidact?

I completely understand briank's warning against sentimentalizing the syndrome, but is there a reason you rule out any medical basis for other worldly fictional creations?
posted by Jody Tresidder at 11:15 AM on December 3, 2007


This seems like the complement of Asperger's syndrome.

Or the evolutionary endpoint of politicians.
posted by Crabby Appleton at 11:17 AM on December 3, 2007


"developmentally delayed" (or whatever the current politically correct term for mentally retarded is)

I'm sorry, but this comment is just asinine. The reason we don't call the developmentally disabled retarded is because they're not late, rather, they're never going to arrive. It's not 'political' correctness, it's actual correctness.
posted by anotherpanacea at 11:27 AM on December 3, 2007 [2 favorites]


Is it just me, or do those kids look just like normal kids? I mean, since it's being pointed out that they're supposed to look "elven", I can kind of see it in some of them, but if I saw one of those kids walking around on the street, I would just think "oh, a white kid" and not really notice.

What do adults with Williams Syndrome look like? Are the elven features more pronounced when they're kids or something?
posted by pravit at 11:39 AM on December 3, 2007


Great post. Depressing comments.
posted by fcummins at 11:55 AM on December 3, 2007 [1 favorite]


I would just think "oh, a white kid"

I know, dude. We all look the same ...
posted by chinese_fashion at 12:03 PM on December 3, 2007


I was completely unfamiliar with this syndrome-- thanks. I'm a bit surprised that one of the quoted researchers chose to contrast this with sociopathy, whose roots seem partially genetic and partially environmental, rather than with Ausperger's, which seems rather more hardwired...
posted by darth_tedious at 12:06 PM on December 3, 2007


I am pretty amazed by this material and the syndrome. Thanks for the link.
posted by WCityMike at 12:14 PM on December 3, 2007


I know, dude. We all look the same ...

The worst part about it is that I grew up in this country and I still have trouble telling apart Val Kilmer and Arnold Schwarzenegger. I think I'm pretty bad with faces in general, though.

OK, back to Williams Syndrome.
posted by pravit at 12:22 PM on December 3, 2007


The reason mental retardation got re-branded is it also came to be used pejoratively, which I am guessing is why so many things get re-branded. So, people "in the field" don't really want to walk around and say "Yeah, I work with retarded people". There is about three or four things emotionally wrong with that sentence.
Yes, technically people who experience developmental delays have "mental retardation", and when we deal with outside agencies, such as the police, we have to be very precise and use those terms. But, when a term is also in common parlance as being a pretty emotionally damaging way to hurt someone yeah, you know I'm all in favor of finding other terms. Only a jackass insists upon technically correct terms at the expense of being considerate.
posted by edgeways at 12:36 PM on December 3, 2007 [1 favorite]


This is a total n00b Genetics 101 question but how much of "normal" human variation is caused by less severe chromosome errors, if any? Could my 4'10", oddly socially fearless and spatially hopeless mother be missing some of the same genes as a Williams patient without being classifiable as abnormal or is the genetic tapestry so complex that having just a subset of the Williams syndrome gene errors would result in an unrelated pathology?
posted by bunnytricks at 12:42 PM on December 3, 2007


I feel guilty for thinking at first that this post was an elaborate send-up of you know who.
posted by stargell at 12:52 PM on December 3, 2007


Jody, you really can't see why it's asinine to say that the existence of this syndrome explains the varied portrayal of elves... in stories? It's just such a stupid thing to say, I really can't drum up the energy to explain why.
posted by autodidact at 1:11 PM on December 3, 2007


"developmentally delayed" (or whatever the current politically correct term for mentally retarded is)

I'm sorry, but this comment is just asinine. The reason we don't call the developmentally disabled retarded is because they're not late, rather, they're never going to arrive. It's not 'political' correctness, it's actual correctness.
re·tard
v. re·tard·ed, re·tard·ing, re·tards

v. tr.
To cause to move or proceed slowly; delay or impede.

v. intr.
To be delayed.
Yeah, huge semantic difference there.
posted by designbot at 1:15 PM on December 3, 2007


Yeah, huge semantic difference there.

Err... yeah, there is.

disability: the condition of being unable to perform as a consequence of physical or mental unfitness.

A physical or mental incapacity, either congenital or resulting from an injury or illness etc.
posted by anotherpanacea at 1:47 PM on December 3, 2007


Williams syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand...His published delineation of this syndrome put Dr. Williams on the map — off which he promptly and mysteriously fell. Twice offered a position at the prestigious Mayo Clinic in Rochester, Minn., he twice failed to show, disappearing the second time, in the late ’60s, from London, his last known location, with the only trace an unclaimed suitcase later found in a luggage office.

...until he walked into a police station on Saturday with no memory of where he has been for the last 45 years?
posted by anazgnos at 1:50 PM on December 3, 2007


Thank you for visiting my web site to read about Williams Syndrome. Please note that I am a freelance science and medical writer, and I earn my entire income from my writing. If you find this article useful I ask that you pay $1. Payments are on the honor system.

Is this the first shareware Metafilter thread?

Anyway, "elfin" features? Not particularly.
posted by JHarris at 1:57 PM on December 3, 2007


Few can balance a checkbook

Are normal people supposed to be able to? I don't even know what it means...
posted by snoktruix at 1:59 PM on December 3, 2007


bunnytricks- either or. To give an example, the microdeletion on the chromosome 22 that causes DiGeorge syndrome, can be completely silent on the parent transmitting the deletion, or the parent could have a minor show of symptoms. There is really some weird stuff going on- it is not quite as straightforward as Mendel would have liked you to believe. In uniparental disomy, for example, you might inherit both chromosomes 15 from one parent, instead than one from each: if they are from the dad, they cause one set of symptoms (Prader-Willi) and if they are from the mom a totally different set of symptoms (Angelman syndrome), as if that area was deleted.
posted by francesca too at 2:02 PM on December 3, 2007 [2 favorites]


I'll grant that "disabled" ≠ "delayed," but the comment you referred to only compared the terms "mentally retarded" and "developmentally delayed." Calling the post "asinine" because it doesn't use your preferred terminology is as clear an example of political correctness as you could ask for.
posted by designbot at 2:05 PM on December 3, 2007


briank makes a big deal out of not caring about the pain that certain terms, which are obviously inaccurate, but she uses 'disabled' later in the comment. The whole purpose of her comment was "I don't care how mentally and developmentally disabled people feel, hell, some of my best friend's neighbors's kids are retards, and I'm edgy and rebellious for saying so."

'Retard' as an insult refers primarily to the lethargic speech patterns characteristic of Downs syndrome.
posted by anotherpanacea at 2:17 PM on December 3, 2007


Is this the first shareware Metafilter thread?

Somebody missed the micropayments bus.
posted by cortex at 2:34 PM on December 3, 2007


Oh, man this totally explains Joanna Newsom Bjork.
posted by UbuRoivas at 2:39 PM on December 3, 2007


“The boys had made the biker’s acquaintance via C.B. radio and invited him to come by, but they forgot to tell Mom.”

So that’d one o’ them deficiencies there then.
posted by Smedleyman at 2:43 PM on December 3, 2007


I'm sorry, but this comment is just asinine. The reason we don't call the developmentally disabled retarded is because they're not late, rather, they're never going to arrive. It's not 'political' correctness, it's actual correctness.

I have no desire to get in the middle of this discussion, but I will link to a supremely insightful Wikipedia entry on the "Euphemism treadmill" which may/may not have been mentioned here before.
posted by coolhappysteve at 4:48 PM on December 3, 2007


Not the Pixies I was thinking of.
posted by sparkletone at 5:46 PM on December 3, 2007 [1 favorite]


I'm beginning to really hate Steven Pinker, who has apparently gotten credit for the idea of pejoration when all he really did was turn that old George Carlin standup bit about post-traumatic stress disorder into a catchphrase. And yet, contra George Carlin, PTSD sufferers are receiving much better treatment than their 'battle-shocked' forefathers, mostly because the new phrase helps us understand the medical causes and pursue medical treatments, rather than referring them to a priest.

Not every terminological switch is purely an attempt to escape pejoration, especially when the newer term is actually more accurate, and better enables us to think through the phenomenon. The same is true for disability: Oscar Pistorius is "differently-abled"... most folks in this category are just disabled, lacking important capacities required for independence and self-determination. Most of them aren't particularly 'delayed' or slow to learn, they're just incapable.

We owe soldiers with disabilities garnered while fighting our country's wars different, stronger duties than we owe those who are merely born disabled. But PTSD has shown us that mental disabilities, even congenital ones, can be understood in terms of a concrete neurological condition rather than cowardice, genetic damage rather than a weak will or poor character. Calling that improved understanding 'political correctness' is asinine.
posted by anotherpanacea at 5:48 PM on December 3, 2007


I'd never heard of Williams syndrome before either, dersins. Thus, another "thanks" for this interesting post.
posted by paulsc at 6:18 PM on December 3, 2007


I think I might've posted these before in another thread, but there's some interesting research tying the Williams syndrome region of the genome to speech and sociability traits... In Williams, the deletion of the genes in the region seems to result in good verbal skills, while duplicating the genes seems to do the opposite. Meanwhile, deleting one of the genes in the Williams region in mice causes them to be more social and less fearful. Go figure.
posted by greatgefilte at 9:54 PM on December 3, 2007


This other youtube video of kids with williams is worth watching too, since it gives a feel for what it's like to actually interact with them.

Fascinating stuff.
posted by Arturus at 10:30 PM on December 3, 2007


autodidact: Teach thyself!

"The reality behind many changeling legends was often the birth of deformed or retarded children. Among the diseases with symptoms that match the description of changelings in various legends are spina bifida, cystic fibrosis, PKU, progeria, homocystinuria, Williams syndrome, Hurler syndrome, Hunter syndrome, and cerebral palsy. The greater proneness of boys to birth defect correlates to the belief that boy babies were more likely to be taken.

As noted, it has been hypothesized that the changeling legend may have developed, or at least been used, to explain the peculiarities of children who did not develop normally, probably including all sorts of developmental delays and abnormalities. In particular, it has been suggested that children with autism would be likely to be labeled as changelings or elf-children due to their strange, sometimes inexplicable behavior. This has found a place in autistic culture. "
Via ^ and referenced there.
posted by Sparx at 2:50 AM on December 4, 2007


Sparx,
I humbly thank you for your fascinating comment.

That was precisely what I was thinking of - albeit in a feeble, undigested sort of way - when I was wondering about any medical basis for certain fictional types!
posted by Jody Tresidder at 4:02 AM on December 4, 2007


I didn't find their faces too "characteristic." Many of those kids just looked like normal kids to me.
posted by agregoli at 8:20 AM on December 4, 2007


I wrote a MSc literature project on Williams Syndrome several years ago (2000 I think, so everything I know is dated). It's very interesting. They have a deletion of about 16 genes, so it should theoretically be easy to say "Oh, musical ability and math must be related to the absence or presence of these genes" but in reality it is incredibly hard to really pin it down to one or two genes. Back when I was reading about this, only one or two genes in the deletion region had a known function, including the gene encoding the elastin protein (actually I think it might have been the gene for the subunit/precursor, tropoelastin. I'm just typing this without checking my references, by the way, so don't use this comment as reliable reference for anything) The elastin deletion is the cause for many of the physical problems, including the heart defect that leads to premature death in Williams Syndrome patients.

I picked this topic as my literature research project back in Amsterdam after seeing Oliver Sacks talk about it on TV back then, and while doing the research on elastin I came across many papers from SickKids hospital in Toronto, which was part of the reason for later ending up doing a PhD at SickKids, though not at all related to WS or elastin. But it's one of those weird little things that later end up playing a part in making crazy big decisions involving moving across an ocean.
posted by easternblot at 9:07 AM on December 4, 2007 [2 favorites]


Thanks for the post, dersins, and thanks for linking to my previous post, ericb.

I debated about posting in this thread because I'm starting to feel like a resident village scold but damn, it is just so shortsighted and gauche to cast this syndrome as an insult toward anyone, musician or not.

I was introduced to Williams Syndrome through Oliver Sacks' writing, and later saw an affecting 60 Minutes segment about it (unfortunately it's unavailable online, but here's a short description.) It was an astonishing and moving thing, to know that despite my best efforts I will never approach the talent of a Gloria Lenhoff and so many persons with Williams. From my earliest memories I have had the emotional connection to music that so many of them describe, but that I have to turn that intuition into hard work when I perform it. I have so often wished for a more direct line from my feelings to my voice and hands, the kind that so many persons with Williams have.

I don't wish to romanticize it or trivialize the very real problems that accompany the disease. The children and adults that Sacks and Safer spoke with described their difficulties with spatial perception and math, serious heart and other health problems, and an inability to detect subtle cues of expression, especially when people lie. Despite their generally sunny, charming affect several described quite cruel teasing at the hands of other children and callous adults. It's an awful dissonance to see a person with a constant smile and tears in their eyes.

That's just one of many reasons I hate jokes at their expense, and the word "retard" used as a pejorative -- it's just such pointless dirty pool. Many have gifts most of us will never touch. With a turn of the genetic lottery, all of us would be like them. It's wondrous and it's humbling. I don't know how else to say it.
posted by melissa may at 10:33 AM on December 4, 2007 [1 favorite]


I don't see how this comment:

I wonder if this explains the various treatments that "elven" characters get in literature - feared, liked, evil/good, etc.

Is supported by what Sparx posted:

it has been hypothesized that the changeling legend may have developed, or at least been used, to explain the peculiarities of children who did not develop normally..
posted by autodidact at 12:04 PM on December 4, 2007


Autodidact:

Maybe Sparx was responding to my comment - about whether there is any medical basis for other worldly fictional creations - which extended the thoughts raised by the original "elven" characters comment?

(I think the confusion arises because you objected to my comment too - but possibly without quite noticing I'd already raised my slightly different point.)

That's how I read it anyway!
posted by Jody Tresidder at 1:17 PM on December 4, 2007


Happy to help, autodidact.

For a start try this article for a taste of various international versions of the concept of changeling. This is not a single culture kind of association.

Next, ask yourself - bearing in mind the folklorish connection between the human child with abnormal attributes and the changeling of myth, as well as between the changeling and the capricious and dangerous 'other' from whence it came - how could the behaviour of such human children *not* inform the tales woven around such others - exaggerated and formularised as they might later have become. It's not PC in this day and age to call such people capricious and dangerous , but in a less understanding age - that might have been how they turned out if they survived. There was undoubtedly a raft of anecdotal evidence as to their level of peril, and if how we treat such folk in this day and age is anything to go by, I wouldn't say it was necessarily their fault if they got a bit of a reputation back then.

Sure - they might not have had a lot to do with Tolkein's elves and their beauty and high nobility nor their more recent cheesy extruded-fantasy-product descendents. But those are tip of the iceberg for the Fae of literature and tale. Check out Tolkein's _On Fairy Stories_ and _Smith of Wooten Major_ for a more modern meditation on the nature of the old style. Pratchett's Lords and Ladies is also rather good in its description of Old Skool Elving.

Of course, it's not a one to one match between the special child and the other realm, nor between Williams Syndrome alone and the depiction of changelings or Fae. But if you channel the concept of a Williams Syndrome or Autistic child through the filter of a pre-genetics and very superstitious community, what you get is proof of the elven other, informing folk tales merely by being around and being so very different. And it's those very folk tales that inform literature today, sometimes in weaker doses, sometimes in stronger.

But to say that the concept of William's Syndrome developing into tales of elves and their many strange, often contradictory attributes is asinine...well, I felt you oughta be called out on that. It's kind of insulting as well as being wrong. Sure, the poster was pondering aloud, and it doesn't explain the situation in totality - but it's a lot closer to the truth than you were when you rudely shut down the possibility.

But I don't want to be all ad hominem. I shall merely say..."tsk".

Shade and sweet water to you, autodidact.
posted by Sparx at 1:56 PM on December 4, 2007 [2 favorites]


That's pretty much a flawless comment, Sparx.
Salut!
posted by Jody Tresidder at 2:37 PM on December 4, 2007


I objected to the fact that she conjectured that Williemas was reponsible for the varied presentations of elfin characters (good\evil, liked\feared)... as if, absent this syndrome, there would be a singular depiction of "elfin" characters in fiction. That is what I was objecting to and it is asinine.
posted by autodidact at 6:45 PM on December 4, 2007


... although as per usual I have to admit in hindsight to being jerky and sort of poorly though out.
posted by autodidact at 6:53 PM on December 4, 2007


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