Talk:Angelman syndrome

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Imprinting[edit]

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 (talkcontribs) 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[edit]

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[edit]

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 (talkcontribs) 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[edit]

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[edit]

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?[edit]

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 (talkcontribs) 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)

Added content under "Treatment and cure"[edit]

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 (talkcontribs) 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[edit]

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)