Talk:Down syndrome/Archive 9

Notable Individuals
Hi!

Tommy Jessop seems to have been removed from the Notable Individuals section of the Down Syndrome page. Why is this? He is the UK's most successful TV and theatre actor with Down Syndrome. In 2007, he was the first actor with Down's to star in a prime-time feature length drama on British TV (Coming Down the Mountain. He continues to appear regularly in shows such as Holby City, Monroe and Doctors. And in May 2012, he became the first actor with Down's to play Hamlet professionally (in a tour production by Blue Apple Theatre), and he is the star of a forthcoming cinema documentary on this story.

Please can he be re-instated as a Notable Individual, and linked to his new Wikipedia page?! 82.17.99.223 (talk) 13:46, 13 August 2012 (UTC)
 * Reference was needed. Doc James (talk · contribs · email) (if I write on your page reply on mine) 13:46, 13 August 2012 (UTC)


 * Red information icon with gradient background.svg Not done: please provide reliable sources that support the change you want to be made.&mdash; Deontalk 12:09, 14 August 2012 (UTC)

Actor Chris Burke should be added to the Notable Individuals section - http://en.wikipedia.org/wiki/Chris_Burke_(actor) PCB 18 October 2012 — Preceding unsigned comment added by 24.124.11.250 (talk) 00:05, 19 October 2012 (UTC)

Edit request on 25 September 2012
To whom it may concern,

This entry is not incorrect, but it does not include the most up-to-date, accurate and complete information available, particularly concerning non-invasive prenatal testing. I've included proposed changes below, with additions to the existing entry in bold. The source numbers have also been amended accordingly.

In 2011, a non-invasive prenatal test, MaterniT21, detected Down syndrome based on fetal DNA in a sample of the mother's blood in 209 of 212 cases (98.6%).[63][64] '''Non-invasive prenatal testing (NIPT) is a new testing option that analyzes cfDNA circulating in maternal blood to evaluate the risk of Down syndrome and other common genetic conditions. The test is performed from a simple maternal blood draw once during pregnancy, as early as 10 weeks’ gestation. [65]'''

'''In April 2012, a study of 3,080 pregnant women showed that a specific NIPT test, the Harmony™ Prenatal Test, detected chromosomal conditions that cause Down syndrome greater than 99% of cases (Trisomy 21), and 37 of 38 cases of Patau syndrome (Trisomy 18). [66]'''

The International Society for Prenatal Diagnosis finds that NIPT is an advanced screening test, which may be of use, in conjunction with genetic counseling, in high-risk cases based upon existing screening strategies. While effective in the diagnosis of Down syndrome, it cannot assess other conditions which can be detected by invasive testing; (for pregnant women who are screen-positive using current screening protocols, Down syndrome represents about half of the fetal chromosomal abnormalities identified through amniocentesis and CVS).[67]

'''Additionally, in September 2012, the first large clinical study to evaluate non-invasive prenatal testing using cell-free DNA (cfDNA) in a general population of pregnant women (versus pregnant women determined to be at high risk, such as those of an advanced maternal age) was published in the American Journal of Obstetrics and Gynecology (the Gray Journal). The study, titled “Noninvasive Prenatal Testing for Fetal Trisomies in a Routinely Screened First-Trimester Population,” was led by Dr. Kypros H. Nicolaides, professor at the Harris Birthright Research Centre for Fetal Medicine at King’s College Hospital in London, with fellow authors Argyro Syngelaki, Dr. Ghalia Ashoor, Dr. Cahit Birdir and Dr. Gisele Touzet. It demonstrated that the Harmony Prenatal Test is effective in a broad population of pregnant women at low risk for common genetic conditions including Down syndrome. [68]'''

Table 1: First and second trimester Down syndrome screens - This should have a section added for non-invasive prenatal testing:

'''Non-invasive prenatal testing (specifically, the Harmony Prenatal Test) As early as 10 weeks Greater than 99% Less than 0.1% The newest testing option, which analyzes fetal DNA circulating in maternal blood for chromosomal conditions known to cause Down, Edwards and Patau syndromes. The test involves a single blood draw from the pregnant mother.'''

54.	^ Rong Mao, X Wang, EL Spitznagel, LP Frelin, JC Ting, H Ding, J Kim, I Ruczinski, TJ Downey, J Pevsner (2005). "Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart". Genome Biology 6 (13): R107.doi:10.1186/gb-2005-6-13-r107. PMC 1414106..

55.	^ See Leshin, L. (2003). "Trisomy 21: The Story of Down Syndrome". Retrieved 2006-05-21.

56.	^ Zohra Rahmani, Jean-Louis Blouin, Nicole Créau-Goldberg, Paul C. Watkins, Jean-François Mattei, Marc Poissonnier, Marguerite Prieur, Zoubida Chettouh, Annie Nicole, Alain Aurias, Pierre-Marie Sinet, Jean-Maurice Delabar (2005). "Down syndrome critical region around D21S55 on proximal 21q22.3". American Journal of Medical Genetics 37 (S7): 98–103. doi:10.1002/ajmg.1320370720. .

57.	^ For a description of human karyotype see Mittleman, A (editor) (1995). "An International System for Human Cytogenetic Nomeclature". Retrieved 2006-06-04.

58.	^ a b c "Down syndrome occurrence rates (NIH)". Retrieved 2006-06-02.

59.	^ Mosaic Down syndrome on the Web.

60.	^ International Mosaic Down syndrome Association.

61.	^ "Genetics of Down Syndrome". Retrieved 2011-05-29.

62.	^http://www.acog.org/About_ACOG/News_Room/News_Releases/2006/New_Recommendations_for_Down_Syndrome

63.	^ Grody, WW; Canick, JE; Lambert-Messerlian, GM; Haddow, JE; Neveux, LM; Ehrich, M; Van Den Boom, D; Bombard, AT et al. (October 14, 2011 (Epub ahead of print)) "DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study" Genetics in Medicine 13 (11): 913–20doi:10.1097/GIM.0b013e3182368a0e

64.	^ Moisse, Katie. "Safer Down Syndrome Test Hits Market Monday". ABC News.

'''65.      Beyer, Monica. "Accurate and Non-invasive Prenatal Testing." Pregnancy & Baby. SheKnows LLC, 23 Aug. 2012. Web. 24 Sept. 2012. .'''

'''66.	^ Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207:137.e1-8.'''

67.	^ Committee: Peter Benn, Antoni Borrell, Howard Cuckle, Lorraine Dugoff, Susan Gross, Jo-Ann Johnson, Ron Maymon, Anthony Odibo, Peter Schielen, Kevin Spencer, Dave Wright and Yuval Yaron (October 24, 2011). "Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis" (pdf). ISPD rapid response statement (Charlottesville, VA: International Society for Prenatal Diagnosis). Retrieved October 25, 2011

'''68.	^ Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened ﬁrst-trimester population. Am J Obstet Gynecol 2012;207:x.ex-x.ex.'''

69.	^ For a current estimate of rates, see Benn, PA; Ying, J; Beazoglou, T; Egan, JF (January 2001). "Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results". Prenat. Diagn. 21 (1): 46–51. doi:10.1002/1097-0223(200101)21:1<46::AID-PD984>3.0.CO;2-C..

70.	^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Combined Test is 82-87%

71.	^ NIH FASTER study (NEJM 2005 (353):2001). See also JL Simpson's editorial (NEJM 2005 (353):19).

72.	^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Integrated Test is 94–96%

71.6.23.29 (talk) 01:13, 25 September 2012 (UTC)
 * Red information icon with gradient background.svg Not done: A bit WP:TLDR, and not really reliably sourced. Mdann52 (talk) 10:10, 8 October 2012 (UTC)

Intellectual disability (ID) rather than or next to mental retardation (MR)
"It is typically associated with intellectual disability (ID), also known by the dated term "mental retardation" (MR) ....[1]" I haven't heard anyone refer to ID/MR associated with Down syndrome as a "delay" in years. 68.191.99.15 (talk) 21:54, 19 October 2012 (UTC)


 * Dear user at IP 68.191.99.15: "???" Not sure what you're saying. The text you quoted is not found in the article, as far as I can see. Down Syndrome is sometimes referred to by professionals in the field as associated with "developmental delay." Is that what you're referring to? Famspear (talk) 22:39, 19 October 2012 (UTC)
 * The text in the article is: "It is typically associated with a delay in cognitive ability (mental retardation, or MR)" This is well sourced in the section "Mental characteristics and neurology".   Lova Falk     talk   17:22, 20 October 2012 (UTC)

The phrase "mental retardation (known as MR) should be changed to "intellectual disability". MR is know longer used as the term for discribing cognitive disabilities.
--70.36.234.209 (talk) 23:13, 11 November 2012 (UTC)Claire Douglas (11/11/2012)

No, the term "mental retardation" is still used, and it's still used officially in government documents and in education. Famspear (talk) 23:50, 11 November 2012 (UTC)

I'm not a psychologist or psychiatrist, but in the United States I believe "mental retardation" is also the term used in the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association), in version DSM-IV. I don't know about DSM-V, which I believe is not officially released yet. Famspear (talk) 00:54, 12 November 2012 (UTC)
 * The proposal is to change it into Intellectual Developmental Disorder. See: http://www.dsm5.org/ProposedRevision/Pages/proposedrevision.aspx?rid=384. However it's not yet 2013 and MR is still the proper term. They write: "Mental Retardation is no longer used internationally or in U.S. federal legislation"  Lova Falk     talk   18:30, 12 November 2012 (UTC)


 * The term is used in other legislation in the United States. For example, in the Texas statutes: Texas Health and Safety Code, Chapters 592, 593, and 613.


 * Example, Texas Health and Safety Code, section 592.001:


 * Sec. 592.001. PURPOSE.  The purpose of this chapter is to recognize and protect the individual dignity and worth of each person with mental retardation.


 * Texas Health and Safety Code, section 592.


 * Sec. 592.011. RIGHTS GUARANTEED.  (a)  Each person with mental retardation in this state has the rights, benefits, and privileges guaranteed by the constitution and laws of the United States and this state.(b)  The rights specifically listed in this subtitle are in addition to all other rights that persons with mental retardation have and are not exclusive or intended to limit the rights guaranteed by the constitution and laws of the United States and this state.


 * My son has Down Syndrome, and my experience is that the term "mental retardation" seems to be fairly current in use with health care professionals.


 * Unfortunately, the "bad guys" -- those who who use terms such as "retarded" in a pejorative way -- seem to have the upper hand. I suspect that if the term "intellectual disability" eventually completely replaces "mentally retarded," the "bad guys" won't be fooled by the change. They will simply use the term "intellectual disability" in the same pejorative way that they have used the term "retarded," and then "good people" will look for yet another term to replace the term "intellectual disability."


 * The solution to the problem is not to let the "bad guys" keep chasing us away from the use of terms that describe a condition that some of our fellow beings have. The solution is to educate the "bad guys" that their behavior is wrong.


 * However, I have digressed.


 * For purposes of Wikipedia, I would argue that unless the laws are changed and health care providers actually stop using the term "mental retardation", it is not up to us as Wikipedia editors to discontinue the use of the term in an article on Down Syndrome. If the term is no longer used in DSM-V, the article could, of course, mention that. Famspear (talk) 18:59, 12 November 2012 (UTC)

Performing a quick check, I see that "mental retardation" is the term used in the California statutes as well. Famspear (talk) 19:03, 12 November 2012 (UTC)

Another quick check, and I see that the above information to the contrary notwithstanding, the term "mental retardation" is found in many places in current U.S. federal statutes. For example, 42 U.S.C. section 1393, 42 U.S.C. section 1396r-3, 42 U.S.C. Chapter 33. Famspear (talk) 19:08, 12 November 2012 (UTC)

More U.S. federal statutes that include the term "mental retardation" or some variant thereof: 42 U.S.C. section 293k-1; 42 U.S.C. section 1784; 42 U.S.C. section 1997; 18 U.S.C. section 3596; 25 U.S.C. section 1665; 42 U.S.C. section 3796ii-1. I haven't checked to see whether these statutes have been repealed, but if they have been repealed, it would have been fairly recently. Famspear (talk) 19:16, 12 November 2012 (UTC)
 * We should tell APA they are misinformed! Face-smile.svg  Lova Falk     talk   19:18, 12 November 2012 (UTC)


 * Good point!


 * My complaint about the semantic shift in terms such as "mental retardation" and the way in which people respond to the pejorative use of terms is addressed in the text about the so-called "euphemism treadmill," at the article on Euphemism. Famspear (talk) 19:21, 12 November 2012 (UTC)
 * I agree with you, but what to do.  Lova Falk     talk   19:54, 12 November 2012 (UTC)

Yes, I just try to deal with one person at a time, in my life. When I talk with other people, I try to explain what my son is like. For me, it is important for people to see my son as a real person and not as a "category" or "label." Everyone must decide how he or she is going to spend time and energy. I know I could make some sort of grand effort to change the way millions of people view Down Syndrome and other disabilities, but I have chosen not to do that, at least for now. Right now I choose to focus on just helping my son with his own struggle. Famspear (talk) 20:43, 12 November 2012 (UTC)
 * My understanding is that "mental retardation" is an acceptable and official term in the US but not in the UK and Australia.2A02:2F01:1059:F004:0:0:BC19:ADAB (talk) 21:36, 12 November 2012 (UTC)

Pregnancies often terminated?
The last time I researched it, the termination rate was upwards of 90%. — Preceding unsigned comment added by 184.89.95.195 (talk) 14:13, 4 January 2013 (UTC)

There's a line in the introduction to the article which states that pregnancies in which prenatal screenings determine a child will have Down Syndrome are "often terminated." This is not sourced to anything; it should be removed. — Preceding unsigned comment added by 74.79.219.226 (talk) 22:10, 2 October 2012 (UTC)
 * The lead section is a summary of what is in the below sections. The "Prenatal testing" section goes into further detail on this statement and does include multiple references. &mdash; KuyaBriBri Talk 20:45, 4 October 2012 (UTC)

It's WRONG to show a KID using a DRILL without SAFETY GLASSES
This is not the proper way to use a drill. He should have SAFETY GLASSES ON. — Preceding unsigned comment added by 50.131.41.41 (talk) 16:48, 6 January 2013 (UTC)

It's very reverent to the article to know which tool the boy is assembling the bookcase with. I examine Wikipedia photos very closely, as I am interested in the details. It does, in fact, help me to learn, and makes me think and ask questions. For instance, I THINK the tool in QUESTION is an electric drill. "Assembling a bookcase" only answers about the bookcase and not the tool. I thought Wikipedia was a resource for precise and accurate information. I am a reader and not so much an editor, and therefore I have insight into the mind of the reader enough to know that readers such as myself don't want to be cheated out of a fine encyclopedic experience. Editors need to realize that their editing drama comes at the expense of reader satisfaction. Don't underestimate the reader. We're not mentally retarded. We want details and facts. What we DON'T want is arrogant people engaging in bureaucratic drama. Who are you to decide if something is irreverent or not? Also, I think you're trying to make us lose our focus on this issue by diverting our attention from the drill through the usage of a rather large word such as "assembling." We just want to read the article, NOT have to get a dictionary as well. There are folks with Down syndrome trying to read about their condition here. I think I should stick to Encyclopedia Brittanica for hard knowledge and Simple English Wikipedia if I want the same progressive agenda wrapped up in an easy to read format. — Preceding unsigned comment added by 72.70.202.28 (talk) 18:01, 30 January 2013 (UTC)

Lead Image
What's the point of having that lead image of a kid assembling a bookcase. The kid happens to have Down syndrome but other then that the image has nothing to do with Down syndrome. Emmette Hernandez Coleman (talk) 18:48, 13 December 2012 (UTC)


 * Uh, that seems like saying "Why is that image used in the lead for the Earth? Apart from that huge planet in the middle of the image that happens to be Earth, it has nothing to do with Earth."  Or are you trolling?  Sorry, it's been a long day today, and I'm not quite as alert as normal. Chaheel Riens (talk) 19:40, 13 December 2012 (UTC)
 * Image looks perfect to me. Doc James  (talk · contribs · email) (if I write on your page reply on mine) 19:58, 13 December 2012 (UTC)
 * The lead image in Earth is image of Earth. An image of Earth is relevant to Earth just as an image of New York City is relevant to New York City. The image here is of a kid assembling a bookcase, it has about as much relation to Down syndrome as it does to blond hair and blue shirts. The kid happens to have Down syndrome, blond hair, and a blue shirt, so what. Emmette Hernandez Coleman (talk) 20:06, 13 December 2012 (UTC)
 * Ah so you have a better image you want to replace it with? Doc James  (talk · contribs · email) (if I write on your page reply on mine) 20:11, 13 December 2012 (UTC)
 * We don't put irreverent images in article leads just because we don't know of a relevant one. If the kid were color blind would this be an image for the Color blindness article? Emmette Hernandez Coleman (talk) 20:17, 13 December 2012 (UTC)
 * Okay, while I think a bunch of use simple disagree and consider this image very relevant. Thus you see this image here. Doc James  (talk · contribs · email) (if I write on your page reply on mine) 20:19, 13 December 2012 (UTC)


 * What would you prefer him to be doing? And how do you feel about this image in the blond hair article?  I mean the kid is holding a tin can and a water bottle!  How irreverent to the article can you get?  Chaheel Riens (talk) 20:22, 13 December 2012 (UTC)
 * Irreverent? Do you mean irrelevant?  I don't find the image either irreverent or irrelevant! Centerone (talk) 20:27, 13 December 2012 (UTC)
 * I don't know which the OP means. I was simply imitating their tone of post to try and establish how their opinion translates to different articles that contain similar images in context, if not content.
 * A look at their talk page shows that the OP has been questioned over their use of the term "irreverent" before. As you say, I suspect he thinks it means "irrelevent".  Chaheel Riens (talk) 06:45, 14 December 2012 (UTC)

As a parent, I would say that the image displays a child with Down Syndrome that is not only overcoming his intellectual disability but also challenges he would have faced with fine motor skills, gross motor skills and reasoning. Therefore, I would say it is the perfect picture to be the lead in the article as it demonstrates the potential of people of with Down Syndrome rather than their limitations. — Preceding unsigned comment added by 184.89.95.195 (talk) 14:21, 4 January 2013 (UTC)
 * Thank you for your comment. This was exactly my thought on the subject, however it is good to hear this impression from someone with a direct experience with the topic in question. Centerone (talk) 01:03, 1 February 2013 (UTC)

Cleaning up lead of "Signs and symptoms" section
I thought the first sentence of the "Signs and symptoms" section might need some cleaning up, but I wasn't sure how best to do so. For reference, it reads: "The signs and symptoms of Down syndrome are characterized by the neotenization of the brain and body to the fetal state."

Is "brain" redundant, as it is already a part of the body?

Is "to the fetal state" redundant, as it is covered by the definition of neoteny? --SoledadKabocha (talk) 19:15, 21 February 2013 (UTC)
 * Good questions, not easy to answer! I would say brain is not redundant because in some cases things happen to the body whereas the brain stays relatively intact (for instance in starving children). To the fetal state is redundant though. Just my two cents.. Coin Icon.svg  Lova Falk     talk   18:42, 23 February 2013 (UTC)