Talk:Tay–Sachs disease

Neutrality
As this article talks way more about the Jews that have the disease, and not the others, I will be adding a neutrality tag. Some instances of it are: Ebe 123 → report on my contribs. 01:35, 20 December 2011 (UTC)
 * Tay–Sachs disease
 * Tay–Sachs disease
 * If you look at the academic literature such as this paper PMID: 12108829 it mentions Jewish people as the carrier state is 10 times more common and thus homozygous individuals would occur in 1 in 3600 as opposed to 1 in 360,000 in the general population. Doc James (talk · contribs · email) 13:23, 28 December 2011 (UTC)
 * Yes, but there was WP:UNDUE weight there.  Ebe 123  → report on my contribs. 14:27, 28 December 2011 (UTC)

I removed one section that was just poor. But the rest... Doc James (talk · contribs · email) 15:01, 28 December 2011 (UTC)

THE IRISH/ GAELS {? i.e. Inclusive of Scottish possibly other Celtic origin? Is this why the French/Gallic have the trait?} I added a sentence about the Irish based on a couple articles read recently i.e. http://articles.philly.com/2012-03-10/news/31143221_1_cherry-red-spot-carrier-rate-day-parade but maybe I should remove this? Also, presumably this needs more rigorous sourcing and some brief in-article discussion.

Sorry to intrude my thought is we're coming up on St. Patrick's day and probably most doctors aren't looking for this disease in Irish/Scottish Gaels and it might be of some benefit to update this article in time for St. Pat's? There are more pressing concerns, I'm sure -   [mrk1971]  — Preceding unsigned comment added by 38.111.36.79 (talk) 18:09, 15 March 2012 (UTC)

WP:SS
I suggest that we get this as Summary Style. Getting Tay–Sachs disease, Tay–Sachs disease, Tay–Sachs disease, Tay–Sachs disease, and Tay–Sachs disease. The page is bytes long, justifying the splitting. I'm posting this here as I won't be bold here as it's pretty fustrating being reverted for these things. Ebe 123 → report on my contribs. 19:04, 28 December 2011 (UTC)
 * Sure I support summarizing and creating Prevention of Tay-Sachs disease etc. with a main link. Doc James (talk · contribs · email) 19:13, 28 December 2011 (UTC)
 * I will. Also webciting some references.  Lets try to get this to GA.   Ebe 123  → report on my contribs. 19:21, 28 December 2011 (UTC)

A-Class
As some editors have improved the article even more from when it was re-promoted, I suggest that we get get this back. It is getting peer reviewed and I've requested copyediting. This article stands a chance at FA (I think). Apparently, we need 2 uninvolved users to endorse promoting this. So if you're uninvolved and think this article should be A-class, you may sign and comment. You may also participate in the peer review. Ebe 123 → report on my contribs. 01:46, 22 January 2012 (UTC)
 * Define uninvolved? - SudoGhost 01:52, 22 January 2012 (UTC)
 * I interpret "uninvolved" as not making numerous editorial changes. I don't think your one revert to this article disbars you from voting. Cheers, Magister Scienta talk 02:17, 22 January 2012 (UTC)
 * I guess that it may be changed now, as 2 people have supported, and it's been over a week. No opposes either.   Ebe 123  → report on my contribs. 11:05, 30 January 2012 (UTC)

Supports

 * 1) After reviewing the article, I support its bid for A status.  Magister Scienta talk 02:12, 22 January 2012 (UTC)
 * 2) Likewise. - SudoGhost 10:15, 30 January 2012 (UTC)

Neutral

 * 1) We do not have A class at WP:MED. Thus while it may be increased for other projects it would remain B class for WP:MED. I would recommend that the next step to FA would be a GA nomination which you have already done. Doc James (talk · contribs · email) 03:12, 31 January 2012 (UTC)
 * I meant for WP 0.5 assessment here, not the WPMED. A class is better than GA class, and the A indicates for a bit more work before FA, of which I will want for this article.   Ebe 123  → report on my contribs. 11:32, 31 January 2012 (UTC)
 * Great as long as that is the understanding. -- Doc James (talk · contribs · email) 00:28, 1 February 2012 (UTC)

Discussion
As there were no (significant) opposes (only a neutral about a specific WikiProject), and on the criteria page, it states nothing about the closing, but about 2 uninvolved reviewers, I'm closing this and setting WP:JEW and 0.5 as A-class. Ebe 123 → report on my contribs. 11:55, 7 February 2012 (UTC)

Section on management
We need a section that discusses management and prognosis. Before we had: "There is currently no cure or treatment for TSD. Even with the best care, children with Infantile TSD die by the age of 5, and the progress of Late-Onset TSD can only be slowed, not reversed. Although experimental work is underway, no current medical treatment exists for infantile TSD. Patients receive palliative care to ease the symptoms. Infants are given feeding tubes when they can no longer swallow. Improvements in palliative care have somewhat lengthened the survival of children with TSD, but no current therapy is able to reverse or delay the progress of the disease." but of course there where no refs... Doc James (talk · contribs · email) 03:17, 31 January 2012 (UTC)
 * Working on it.  Ebe 123  → report on my contribs. 10:44, 31 January 2012 (UTC)

Have begun copyedit
Hi. I've begun a copyedit of the article, although grading that I need to do will probably limit me from going further tonight. I've noted three or so places where clarification is needed. (In some respects, it will help that I'm a geneticist; in other respects, it may hurt because I won't see places where someone less familiar with the material would have problems. I will ask for it to be looked over by a non-geneticist copyeditor after I'm finished.) Allens (talk &#124; contribs) 22:17, 3 April 2012 (UTC)


 * I'm done with my first run-through. I've tagged a number of places for clarification; please take a look at these. Allens (talk &#124; contribs) 12:27, 5 April 2012 (UTC)


 * I think it's about time I declared the copyediting done for now - I will continue to keep an eye on things during the GA review, to fix anything applicable during that. Allens (talk &#124; contribs) 17:31, 10 June 2012 (UTC)

Suggestions
I don't have time right now to do a full GA Review. I might get to it this weekend, depending on work. Here are a few suggestions in the interim:
 * There are a lot of mentions of "rare" and "more rare" - some referenced incidence data would be an improvement.
 * The genetics section could be rewritten to more traditional standards - there shouldn't be the need for quotes when describing basic recessive inheritance.
 * Done. Allens (talk &#124; contribs) 02:23, 10 April 2012 (UTC)


 * The "i.e." statements could be eliminated.
 * I've removed one of them; should the one regarding heterozygosity be done via "– heterozygous –", or what? Allens (talk &#124; contribs) 02:23, 10 April 2012 (UTC)


 * The "clarification needed" and "citation needed" tags could be considered criteria for a quick fail.
 * Most if not all of those were added by me in the process of copyediting; I would prefer them not be used as reasons for a quick fail, but instead as reasons to delay evaluating the respective criteria. Allens (talk &#124; contribs) 02:23, 10 April 2012 (UTC)


 * The treatment, diagnosis and management sections focus almost exclusively on the infantile form. There are clinical trials for adult onset Tay-Sachs treatment.
 * There is one sentence about late-onset Tay-Sachs now in the treatment section, and another about research into treatments for late-onset in the research section; are there other drugs under investigation that aren't mentioned? Allens (talk &#124; contribs) 02:23, 10 April 2012 (UTC)

This is a really good article. It needs some work, but this is a complex subject and it is a good start. Canada Hky (talk) 01:23, 10 April 2012 (UTC)
 * The section about hexosaminidase needs expanding. HEXA mutations vs. HEXB mutations, Hexosaminidase A, B & S, etc.

Some comments

 * Shouldn't hexosaminidase be lowercase in the first sentence?
 * I'll have to check MOS:LEAD on that. Allens (talk &#124; contribs) 19:03, 10 April 2012 (UTC)


 * Maybe progressive would be a less emotionally loaded word than relentless.
 * Corrected. Allens (talk &#124; contribs) 19:03, 10 April 2012 (UTC)


 * Adult onset/late onset seem like they should be lowercase.
 * I had thought I'd caught everyplace where they weren't; I'll take another look. Allens (talk &#124; contribs) 19:03, 10 April 2012 (UTC)


 * I noticed WP:OVERLINKing with French Canadian, for example.
 * Fixed. (I use a script to spot duplicate links and it didn't there due to a redirect.) Allens (talk &#124; contribs) 19:03, 10 April 2012 (UTC)


 * Seems like it should be "Researchers claimed" instead of claim when discussing the fur trader hypothesis. Biosthmors (talk) 18:43, 10 April 2012 (UTC)
 * Fixed. Thanks! Allens (talk &#124; contribs) 19:03, 10 April 2012 (UTC)

"Tay-Sachs" without "disease" as colloquial?
Axl recently added "disease" back to one instance of "Tay-Sachs" that I'd removed it from, calling it "a colloquial phrase" in the edit summary. I'd like to know what the opinions of others are; for mine, I note that NCBI uses the phrase "Tay-Sachs" to refer to "Tay-Sachs disease" in http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/. Allens (talk &#124; contribs) 21:43, 13 April 2012 (UTC)
 * Most literature uses the phrases interchangeably, but for every source that uses one, I am sure one that goes in the opposite direction can be found. The somewhat standard abbreviation for the adult onset form is LOTS (late onset...), ignoring disease completely. I would suggest that introducing the abbreviation "TSD" and using that consistently throughout would be a better solution.  Canada Hky (talk) 23:28, 13 April 2012 (UTC)
 * I have just discovered this discussion by chance. To Allens: it is particularly poor form to start a discussion about one of my edits without informing me. Axl  ¤  [Talk]  20:42, 16 June 2012 (UTC)


 * Given that you'd edited the article, I thought you'd watchlisted it. (The only time I don't watchlist an article I've edited is if I don't care about the matter.) The discussion is about the edit, not you; as far as I am aware, a notification is generally only considered necessary if one is discussing an editor's general behavior, not an edit specific to an article. Allens (talk &#124; contribs) 20:50, 16 June 2012 (UTC)
 * I have invited WikiProject Medicine to comment. Axl  ¤  [Talk]  21:08, 16 June 2012 (UTC)


 * Good thought. Allens (talk &#124; contribs) 00:22, 17 June 2012 (UTC)


 * I'm not sure if Allens should have alerted Axl separately, but I agree with Axl that using "Tay-Sachs" without "disease" is indeed a colloquialism. Pubmedhealth uses colloquialisms, but we shouldn't. JFW &#124; T@lk  22:50, 16 June 2012 (UTC)
 * Don't really have a firm opinion on this, but search engine testing certainly seems to suggest that "disease" almost always follows "Tay-Sachs". NickCT (talk) 05:03, 17 June 2012 (UTC)
 * "Tay-Sachs disease", in the spirit of WP:MOS (Plain English works best), including WP:JARGON. An article in a general encyclopedia written for a broad readership requires a different tone to many publications on PubMed. —MistyMorn (talk) 12:25, 17 June 2012 (UTC)
 * Tay-Sachs disease should be the default unless or until someone collects a list of precedent use from major reliable sources of Tay-Sachs as a preferred layman term. Right now, such a precedent has not been presented.  Blue Rasberry    (talk)   16:08, 17 June 2012 (UTC)
 * I saw the note at WT:MED. I don't think that there's any compelling need to specify "disease", except in the first use.  It's a bit like arguing over whether you should always spell it out or if it's okay to use an initialism.  IMO "Tay-Sachs" is no better or worse than "TSD", which we would commonly accept.  WhatamIdoing (talk) 03:57, 18 June 2012 (UTC)
 * Pubmed Health and the ICD9 still say Tay-Sachs disease would like to see evidence of the literature doing this before we follow. Doc James  (talk · contribs · email)(please leave replies on my talk page) 20:03, 22 June 2012 (UTC)

Heterozygote advantage
My (admittedly cursory) reading indicates that a) there is a widespread idea that Tay-Sachs provides heterozygote advantage in the form of resistance to tuberculosis, and b) this idea is not actually correct. As well, the article's edit history and talkpage archive indicates that (a) has been added to, and removed from, the article more than once.

I propose that the article contain a brief section explaining the speculations about tuberculosis, and, immediately thereafter, an explanation of why it's wrong. "In, proposed that Tay-Sachs provides heterozygote advantage in the form of increased tuberculosis resistance, because of ; however, in , showed that this is not the case, because of . Other possible forms of heterozygote advantage for Tay-Sachs have been proposed, including  and ." (www.scirp.org/journal/PaperInformation.aspx?paperID=21701, for instance, proposes that TS carriers have "a higher rate of neuronal growth, and thus greater learning capacity"; I have no idea if it's right.) DS (talk) 13:54, 25 March 2014 (UTC)
 * Unlinking predatory journal. Guy (Help!) 19:43, 12 March 2017 (UTC)

The article needs some work about Irish cases. POV
The Irish are given one passing, unsourced mention. Sources: 24.241.69.99 (talk) 01:35, 30 April 2014 (UTC)
 * Are you of Irish descent? Are you aware you may be a carrier for Tay-Sachs Disease? If you have at least 3 Irish grandparents and are 18 years or older, you may be eligible to receive carrier screening for Tay-Sachs disease at no cost to you.
 * Also.
 * Every person of Jewish, French-Canadian, Cajun or Irish heritage should be tested for Tay-Sachs carrier status.
 * “I thought Tay Sachs was a Jewish disease,” says Cathy. The Mitchells, who live in Langhorne, then learned that this deadly inherited disease, which cripples and kills, is common among people of Irish descent. As many as 1 in 50 Irish Americans is a carrier.
 * "It is not an exclusively Jewish genetic disease," says Miriam Blitzer, professor and geneticist at the University of Maryland School of Medicine, who says most cases today involve non-Jews. "We have been trying to teach that for years."
 * The incidence of Tay-Sachs among babies born to Jews in North America has dropped 95 percent since efforts began to combat the deadly disease that strikes Jews of Ashkenazi descent disproportionately. In fact, most of the handful of babies born each year with Tay-Sachs are not Jewish, according to Dr. Michael Kaback, director of the California Tay-Sachs Disease Prevention Program in San Diego.
 * Reminder. Do not remove NPOV tags until the situation is corrected. 24.241.69.99 (talk) 20:58, 26 June 2014 (UTC)

1 in 3600 figure for prevalence among Ashkenazim is misleading
This number is misleading. If 1) 1 in 30 Ashkenazim are carriers; 2) All Ashkenazim marry (or have children exclusively with) other Ashkenazim; 3) There is no significant effort to avoid the development of Tay-Sachs disease, then the expected prevalence would be 1 in 3600 births. The first premise is at the lower end of estimates of the prevalence of carriers among Ashkenazim, which is arguably a poor choice, but is not wrong.  The other two, however, are definitely incorrect, however, and result in a gross over-estimation of the actual frequency.

Using the population information in Ashkenazi Jews we see that between 45% and 60% of Ashkenazim live in the United States, and between 70% and 88% of Ashkenazim live in either the US or Israel. Out-marriage is common among Ashkenazim in the US; and strong screening programs among the Ashkenazim exist in the United States and Israel. Reference 34 says that such programs in various countries have been shown to result in up to a 90% reduction in Tay-Sachs births. Ignoring the out-marriage issue, we would expect that the rate of Tay-Sachs births to be 1 in 360 wherever such screening is done. If we assume that there is no screening programs in any other country than the US and Israel (terrible assumption) then the expected prevalence of Tay-Sachs births among Ashkenazim worldwide is between 1 in 749 and 1 in 1332, a considerable reduction from 1 in 3600. This should be reduced further due to out-marriage and screening programs in other countries, but a higher prevalence of carriers would raise this somewhat.

The reference cited (reference 2) does say that "In this specific Jewish population, about one in 3,600 live births is affected" but this could only be true if the specific Jewish population is restricted to those Ashkenazim who marry other Ashkenazim (note: not other Jews) and who do not take part in screening, or who ignore the results. In any population of Ashkenazim where screening is used, the prevalence of Tay-Sachs births is 90% or greater reduced from 1 in 3600.

I suggest that a more accurate reference be found or that a more specific description of what the 1 in 3600 figure be written.

TopherCooper (talk) 23:53, 29 October 2019 (UTC)

Sachs
Tay-Sachs is a genetic disease. It happens when Chromosome 15 has a genetic problem. The problem is caused by a defective HEXA gene.[1] It is recessive, which means both parents must give the baby the defective gene for the baby to have Tay-Sachs. One in every twenty seven Jewish American has one defective gene and can give Tay-Sachs the defective gene to their child. The disease is very rare. It is most common in Jewish families.[2] There is a blood test to see if a person has the Tay Sachs gene. This blood test has helped reduce the number of babies born with Tay-Sachs. In 1800’s, there were 60 new cases and in the 21st century there were 5.

Infants with the Tay-Sachs gene from both parents usually die of pneumonia or other infections during their first four years of life. Some symptoms include: lack of energy, loss of vision and motor skills (paralyzation), and seizures.[3] Tay–Sachs disease is usually first noticed in infants around six months old. They show an abnormally strong response to sudden noises or other stimulus. This is called the "startle response". The child may also be listlessness or have muscle stiffness (hypertonia). The disease is classified into several forms, which are based on the age when the neurological symptoms began. There is no known treatment for this disease. 2601:344:C081:2AB0:A8FD:15CB:2E48:19B6 (talk) 22:45, 23 February 2022 (UTC)

In my view Tay-Sachs carriers do have symptoms that are noticed by sciense
Hence i would like to suggest an edit such as: “carriers are considered to show no sign.”

I would also like to use this opportunity to call researchers to research under FMRI brain activity of carriers under different condition of fatigue, nutrition, alcohol, and etc. In my view this kind of research can considerably advance brain science. 2A06:C701:4E54:8800:B144:3AF9:AA02:B2B7 (talk) 10:56, 26 January 2023 (UTC)