Talk:Angelman syndrome

Imprinting

There's a contradiction between the statement about imprinting (an AS father can have a Prader-Willi daughter, which I agree is possible in theory according to what's known about the genetics of each syndrome) and the statement that no one with AS has ever been known to have a child.

Is the statement about the person with AS fathering a daughter with PW theoretical only, or has it ever been shown to occur? -Ikkyu2 03:52, 31 August 2005 (UTC)

I suppose it's only theoretical. The only case that's known is a mother with AS having a daughter with AS. Pub med link to article —Preceding unsigned comment added by InvictaHOG (talk • contribs) 14:52, 5 October 2005 (UTC)

Imprinting (which is discussed in the wikipedia article) explains how the same grm. An individual gets one copy of 15 from paternal and maternal sources, but either copy that he/she gives up to offspring, must be reset to paternal, if the person in question is a guy; or maternal if she is a woman. Every copy of chromosome 15 in a sperm should be paternal imprinted, despite the fact that 50% of them WERE maternally imprinted before spermatogensis. So in theory it might be possible for an AS or a PW patient to have even a normal son or daughter, or there might be an increased risk of either AS/PW. However, many of the deficits in both are severe and fertility might be affected, and life span might be shorted to the point where offspring are unlikely. DocGratis 01:03, 3 June 2007 (UTC)

Links

Added some links to the Angelman page, however, some editors are saying that they think the links shouldn't be there. Some of the links added are to various countries websites containing further information on AS. In my opinion these links should be there, because they support the document in providing more information, as do the forum links. Aussieland 20:25, 13 December 2006 (UTC)

I think I've got this

I have all symptoms expept below adverage head size and epilepsy, my head is larger than normal. What should I do?—Preceding unsigned comment added by 124.197.54.130 (talk • contribs) 15:59, 23 June 2007 (UTC)

-no, you don't. the article is pretty accurate when it suggests that a best case scenario with Angelman Syndrome would be a vocabulary of about 50 words. none of those words are likely to be 'epilepsy'. 70.139.127.53 00:37, 15 August 2007 (UTC)

Angelman != Aspergers

I removed "Although often considered part of the autistic spectrum" from the article. Angelman syndrome is not at all considered part of the autistic spectrum. I've studied both and met and worked with people with Angelman Syndrome and people from all over the autistic spectrum, and there's no mistaking one for the other. 70.139.127.53 00:37, 15 August 2007 (UTC)

Incorrect reference

1 Angelman, Harvey should read Angelman, Harry - I believe? O schipper (talk) 22:03, 16 March 2009 (UTC)

Hi can we not use this boy with a puppet image?

It's really, really creepy it gives me nightmares big time. —Preceding unsigned comment added by 201.13.143.73 (talk) 05:27, 10 October 2010 (UTC)

-Please, please, this. Oh god this. —Preceding unsigned comment added by 75.139.176.153 (talk • contribs) 09:27, 17 November 2010 (UTC)

I don't understand why that image is used here either. I guess the implication is that the child in the image has Angelman syndrome, but that's not actually stated in the caption.--Eloil (talk) 18:24, 6 April 2013 (UTC)

I'd add that the child clearly doesn't have Angelman Syndrome: it's just not in the range of their capabilities to produce a drawing like that. At best, the painting is an apocryphal source for the name that Harry Angelman gave for the disease. It would be more relevant to have a photograph of someone who is actually genetically diagnosed with the disease. 75.101.50.36 (talk) 18:56, 28 May 2013 (UTC)

I have moved the image to the history section. I am surprised nobody did this before - since we do not know with reasonable certainty that this painting is of someone who has this image, it should not be in the infobox. The only reason it should be in the article at all is that it is clarifies the text in the history section.

If anyone has a freely-licensed image of someone with this syndrome AND the use of that image would not violate WP:BLP or other Wikipedia policies and guidelines, I would encourage them to upload the image to the Wikimedia Commons then add the image to the infobox. I have left the image= and caption= lines in the infobox for this purpose. davidwr/(talk)/(contribs)/(e-mail) 18:00, 28 July 2013 (UTC)

I deleted the picture for the second time, last time my edits were reverted. There is no need to use this picture on the page, it is completely unnecessary. — Preceding unsigned comment added by 209.34.39.213 (talk) 00:35, 7 June 2017 (UTC)

As a compromise, moving image to the History section. It's an important part of the history, but placement in the infobox incorrectly implies this is a picture of a person with the syndrome. --GRuban (talk) 17:49, 29 March 2018 (UTC)

And found an actual image of a person with the syndrome for the infobox. --GRuban (talk) 18:18, 29 March 2018 (UTC)

Added content under "Treatment and cure"

Added links to two doctors, Dr Weeber and Dr Philpot, as they are set to begin phase II human clinical trials on compounds that have shown significant promise in the mouse model. — Preceding unsigned comment added by MBissonnette (talk • contribs) 23:29, 17 January 2012 (UTC)

Awesome. I've provided the original source for the second item, plus a news item from its publisher, Nature. Graham87 03:08, 18 January 2012 (UTC)

Thank you - I've a long way to go in learning the ins and outs - Much appreciated! MBissonnette (talk) 04:22, 18 January 2012 (UTC)

These seem like promotions, and do not express an objective view of the breadth of research going on about Angelman Syndrome. — Preceding unsigned comment added by 76.121.5.60 (talk) 22:17, 21 January 2012 (UTC)

Feel free to improve the section. Graham87 05:09, 22 January 2012 (UTC)

MalaCards

Hi, I would like to add a link under "Classification and external resources" to the AS page in MalaCards, which integrates lots of useful information. How can I do it ? Here's the link: http://www.malacards.org/card/angelman_syndrome — Preceding unsigned comment added by 132.76.61.23 (talk) 11:46, 22 May 2013 (UTC)

You can't, as it's not in {{Infobox disease}}, probably because it's an aggregator. You can suggest its addition at Template talk:Infobox disease or Wikipedia talk:WikiProject Medicine. Graham87 14:07, 22 May 2013 (UTC)

External links modified

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Reversion: Epidemiology

@American In Brazil: In 2015, an editor added qualifying language to the Epidemiology section concerning a study from Denmark (but not the Dutch study), claiming that the language was from the article. There were several problems with the edit. First, it claimed that the study said that its subjects were "Anglo-Saxon." As far as I know the Danes have never been referred to as "Anglo-Saxons," and the well-referenced Wikipedia article Anglo-Saxons contains no such 'fact." Second, only an abstract of the reference article is available outside of a pay-wall, and the editor made several other edits to the article at the same time, with only 2 mentioning a putative reading of the full study. Third, the same editor was banned for 24 hours in 2016, for offenses including making false statements—which I think these are. I've reverted the edits. Tapered (talk) 03:40, 10 February 2017 (UTC)

"Happy Puppet Syndrome"

This is a pejorative, I am removing the reference to it in the sidebar (along with the picture). — Preceding unsigned comment added by 209.34.39.213 (talk) 02:59, 7 June 2017 (UTC)

I do not see what is wrong with the picture. The synonym for this condition is well referenced and commonly used. Doc James (talk · contribs · email) 03:25, 7 June 2017 (UTC)

The picture does not show someone with Angelman's Syndrome, see the above talk section. I am in contact with the ASF to work on getting a better picture, but in the meantime I very strongly feel that a 16th century painting that does not have anything to do with the actual syndrome shouldn't be used. — Preceding unsigned comment added by 137.144.111.49 (talk) 15:31, 7 June 2017 (UTC)

Added an edit that "Happy Puppet Syndrome" is BOTH pejorative and inaccurate. The misnomer only describes the hyperactivity and suggest a complete lack of higher level brain activity - the latter is inaccurate and the former is not present in all cases. --- smitha96, aug 2018

Yes we have a ref that says it is pejorative. The ref added did not state it was inaccurate? Would need a ref for that. Doc James (talk · contribs · email) 20:38, 29 August 2018 (UTC)

The placement of the painting confused me as well.

But pejorative or not, the term is a very apt description of the gait and demeanor of these children (I worked with two children, not adults). Even in Dr Angelman's quote, he refers to them as "puppet children" for that very reason. One of the children learned to keep her mouth closed and stopped drooling (though still smiling constantly). As the article states, she learned to toilet during the day. She also learned to become self-preserving and so was transferred to a group home. The other child was unable to learn or toilet successfully. He had to be watched closely for pica, especially during the December holidays (shiny was irresistible). This behavior is not mentioned in the article, so I guess that it is either very rare in this population, or it was his own personal characteristic? Neither child ever attempted to speak, though the girl was very attentive when spoken to.

What is the significance of the letter "B" in the info box images? Goodnight!, Wordreader (talk) 06:20, 25 July 2022 (UTC)

To clarify, when I wrote: "The other child was unable to learn or toilet successfully.", this was during the years when I worked at the institution where this boy lived. I do not know what milestones he may have achieved after I left the place. Again, goodnight! Wordreader (talk) 06:41, 25 July 2022 (UTC)

Pronunciation

The infobox gives the pronunciation as /ˈeɪndʒəlmən/ – that is, like "angel"-man, as the name is spelled. However, Oxford Dictionaries online [1] gives the pronunciation as /ˈaNGɡəlmən/, as though it were spelled "angle"-man. Is there any way to confirm how Harry Angelman pronounced his name? Milkunderwood (talk) 05:21, 29 March 2018 (UTC)

Lead references

Hey DocJames -- is there something I'm missing with the referencing in the lead? Per WP:LEADCITE, referencing in leads is to be avoided. Is there a specific medicine citation guideline I'm missing? Thanks! cymru.lass (talk • contribs) 17:00, 22 August 2018 (UTC)

User:Cymru.lass you need space in my user name for the ping to work. And yes there is at WP:MEDRS that says refs in the lead are fine. Doc James (talk · contribs · email) 20:35, 29 August 2018 (UTC)

Caregiver Support/Parental Support

Hi all, I think it would be appropriate to add a section on caregiver support. For many newly diagnosed families, this may be the first page they read on this syndrome. It would be good to include support groups and research orgs.

Should this be it's own heading or a sub-heading in society and culture? For now, I may add it as a sub heading on society and culture. Please let me know if there are objections. — Preceding unsigned comment added by Smitha96 (talk • contribs) 01:24, 27 August 2018 (UTC)

I reverted it before noticing this message, per the medical Manual of Style. Hopefully newly diagnosed families get information from hospital leaflets before they come here. Graham87 15:21, 27 August 2018 (UTC)

Typically one would only cover this based on high quality secondary sources. People can find them easily via google. Doc James (talk · contribs · email) 20:36, 29 August 2018 (UTC)

Inconsistent use of "AS" versus "Angelman syndrome"

The article inconsistently switches between "AS" and "Angelman syndrome." The abbreviation is nice to avoid long cumbersome sentences, but it feels awkward when it is used less than half the time when referring to the syndrome. — Preceding unsigned comment added by Kleinhern (talk • contribs) 15:56, 16 February 2019 (UTC)

Unimportant

Is the race of the Mexican girl shown in the picture really an important thing to add? The way it's phrased rubs me the wrong way. This proposed edit may be unnecessary but I feel like its.. Well, maybe a tad racist? What do y'all think? — Preceding unsigned comment added by Applejuiceandpeachh (talk • contribs) 08:26, 24 February 2019 (UTC)

I agree completely, and have edited the caption. Laurier (talk) 11:58, 25 February 2019 (UTC)

Reverted edit

Additionally, @45.150.12.41: see this article. It appears to have survived, despite your assertions to the contrary. SmittenGalaxy | talk! 06:49, 14 August 2024 (UTC)

@SmittenGalaxy: Indeed. Also, pinging doesn't work for IP's. For more stable IP's (which the one above doesn't appear to be) you can use {{talkback}}, but I don't think that'd be helpful here. Graham87 (talk) 15:05, 14 August 2024 (UTC)

Probably not, I was under the implication pinging worked but I suppose not. SmittenGalaxy | talk! 01:26, 15 August 2024 (UTC)