Talk:Rett syndrome

message: I'm the sister of a girl with Rett Syndrome, and I have to say this article is very worrying, as it appears to suggest in the first para that the gene is recessive, and can 'lie dormant for generations'. Then it goes on to say that the vast number of cases are due to 'random mutation', which is my understanding. In fact, I've had genetic testing at a centre specifically researching Rett Syndrome, and they confirmed this. It's not passed through families at all. Leaving this reference in is misleading and alarmist. 
I think the first para, in fact, may come from some very early work, which has since been discounted.
The article also suggests 'marriage and work is possible' in later life. I've only ever met one Rett girl who had anything resembling a normal life, and she was diagnosed as 'several mentally retarded'. In fact she had mosaicism and wasn't affected by her RS. I believe this comment to be hugely misleading. My sister, for example, is 26, lives in a home, is in a wheelchair, can't communicate and has multiple physical problems. 
:I'll take a closer look at this article (I'd never read it!) because I'm not familiar with the full spectrum of the disease (most of what I see in the hospital conforms to your impressions) but am often suprised by what people with seemingly horrible diseases are capable of! InvictaHOG 03:01, 2 May 2006 (UTC)
thread_title:  Factual inaccuracies 

message: With the discovery of the MeCP2 gene deletion that is charactistic of Rett's Syndrome in 1999, the number of misdiagnosed girls and women has increased sharply. Many of the former beliefs about mental abilities, life span, and general health have significantly improved with the discovery of more cases.
Gene mutation, not deletion, right?
Why would discovering the role of MECP2 lead an increase in misdiagnosis? 203.34.41.43 00:41, 12 December 2005 (UTC)
replies: text: A deletion is a type of mutation. On the second point, the article is somewhat ambiguous. Either it means to say that many females though to have had Rett Syndrome in fact have something else or else, many females thought to be normal in fact have Rett Syndrome. I believe the former is the real meaning. Theshibboleth 09:08, 19 December 2005 (UTC)
thread_title:  Confusing paragraph 

message: I asked someone who has reliable evidence (she has rett's herself - forme fruste) about the veracity/accuracy of this article.
She said there was a lot wrong with it. Not all girls lose speech or have seizures.
The regression is frequently a lot later than 18 months.
There is something about genes and some of them are silent.
Just a few of the interesting points she made. All or most supported by medical research.
--EuropracBHIT 06:42, 23 March 2006 (UTC)
replies: text: While the symptoms may not apply to the case of the person you asked, I have personal experience with a case of Rett Syndrome in which the symptoms stated do apply. I think we need to be careful about what we remove, though there is no question that some of the information here is incorrect. I might be able to better source different parts of the article. Unfortunately, a lot of the information online about Rett Syndrome is also inaccurate. I even remember reading something online which said suggested that nothing beyond the clinical symptoms of the disorder was known. Theshibboleth 04:19, 25 May 2006 (UTC)
thread_title:  Helping clean up [[Rett syndrome]] 

message: *"The gene is recessive and can therefore lie dormant for generations."
*"Rett syndrome (symbolized RTT) is X-linked dominant, affecting almost exclusively girls."
I find them so confusing. Which one is it, dominant or recessive?
70.20.159.28 18:17, 15 April 2006 (UTC)
replies: text: I've added the :Image:X-link_dominant_father.jpg but I'm not sure if it is entirely suitable as it shows "unaffected sons". --apers0n 06:14, 17 October 2006 (UTC)
replies: text: And an "affected father" reaching reproductive age. 203.34.41.43 04:24, 25 October 2006 (UTC)
thread_title: Dominant or recessive?

message: "Unlike most genetic diseases, most individuals with Rett syndrome result from spontaneous mutations in one of the parent’s gonads. It has been argued that one cause of the majority of Rett syndrome individuals being female is that MECP2 mutations are more common in male gonads" - wouldn't gametes be better here? C0pernicus 14:42, 9 February 2007 (UTC)
replies: text: hahaha, nice... yer, change it. KX36 15:50, 9 February 2007 (UTC)
thread_title: Gonads or Gametes?

message: "In most cases,[citation needed] 50% of cells use the maternal X chromosome while the other 50% uses the paternal X chromosome."
I didn't write this, and i haven't got a citation (although what I am about to write is straight from my lecture notes as fact, so I assume it's well established). X-inactivation is known to happen at 15-16 days gestation (~5000 cells) and is a "random" choice according to the X-inactivation article. Statistically, that would mean the fraction from each parent would be normally distributed, with the average being 50:50. It is totally impossible to predict which cells, tissues and organs will retain which chromosome until much later if one of them is defective and pathology is seen. --KX36 16:08, 9 February 2007 (UTC)
thread_title:  maternal-paternal X-inactivation ratio 

message: I put the expand tag in the treatment section. I'm wondering if that section might benefit by being written in prose instead of a list. --Umalee 18:52, 15 February 2007 (UTC)
thread_title:  Expand tag 

message: The genetic section is mostly right, and from what I read on the talk page, a great improvement on how it used to be. It is correct that Rett syndrome is X-linked dominant, and the picture is correct for how Rett syndrome mutations would be inherited from an affected mother, however, this is not what is seen in practise. Most (there have been approximately 12 - 15 familial cases) people with Rett syndrome do not have children. The familial cases of inherited MECP2 mutations have been from people who would not be clinically defined as having Rett syndrome (they're often termed "unaffected carriers"). 
Would anyone object to including something along the lines of "In most cases, Rett syndrome is caused by de novo mutations of MECP2 and are hence not inherited from the parents" (with an appropriate reference) in the genetic section? AmiBebbington 03:51, 6 September 2007 (UTC)
thread_title:  Genetics Section 

message: What's mouthing (stereotypic, repetitive hand movements)?  I couldn't find a definition anywhere. D021317c 16:10, 2 October 2007 (UTC)
thread_title:  Mouthing 

message: "Rett syndrome (symbolized RTT) is X-linked dominant -----!!!!!THIS IS NOT X-linked DOMINANT - NEEDS MODIFYING - IT IS A DE NOVO MUTATION!!!!!!----,"
Given that this is true, immediate revision is highly recommended; I have checked some literature, but due to my field of specialization it probably didn't include the cause. Apparently it is not almost exclusive, but completely exclusive to females however.
Further I would like to propose a title change to Rett's Disorder instead of Rett Syndrome.
(Nerusai, failed to login, as usual)
82.74.28.173 11:08, 1 November 2007 (UTC)
thread_title:  Revision suggested, causes (x-chromosomal vs. mutation) 

message: Rhett syndrome is another name for Rett syndrome, so I added that as a redirect. Killroy (talk) 19:49, 10 February 2008 (UTC)
thread_title:  Added redirect from Rhett Syndrome 

message: I thought this section was missing a sensible explanation for the disparity between female and male cases of Rett's, and provided what I hope is a good explanation of why. I also provided a source, from the primary literature, that agreed with my argument.
The second paragraph, however, I found to be somewhat confusing and contradictory. There was a weasel-word sentence I removed, saying "Additional scientific studies have disproved this" with no source.. and, the source that was given for the "alternative theory" (which really is just another way to state the above paragraph, but in clinical rather than biological terms) was from a journalistic article, which *can* be viable sources, but in any scientific article, the primary literature is the only truly reliable source. 
So, I stopped short of deleting the 2nd paragraph, but, I'm not really sure what it adds. The paragraph I wrote could be integrated with it, perhaps. In any case, this is my first non-minor contribution so, I hope it's taken constructively. Mr0t1633 (talk) 04:58, 20 April 2008 (UTC)
thread_title:  Gender and Rett's syndrome section 

message: I'm afraid the decision to leave out the MECP2 mutation's mode of inheritance is a confusion by people misunderstanding the term "X-linked dominant mode of inheritance". The MECP2 mutation's mode of inheritance is indeed X-linked dominant, though in 99% of cases, the mutation is sporadic. It is sporadic because in most cases, Rett patients do not have children. However, if a Rett patient were to have a child and passed on her X-chromosome bearing the MECP2 mutation, the child would also have Rett syndrome. So, although it is usually a sporadic or de novo mutation, its mode of inheritance is still X-linked dominant. Also, there are familial studies of the syndrome, though rare, that confirm this. Therefore, I propose to put this information back in the article, albeit with clear explanation in order to avoid confusion for the laymen (this isn't a technical genetics article, after all!). If there are no arguments against it, I will go ahead and change this in a few days.Mjatucla (talk) 04:51, 19 August 2008 (UTC)
thread_title:  Revisiting Mode of Inheritance 

message: There is a misleading statement in this article here: 
Currently there is no cure for Rett syndrome, although there has been some promising results with gene therapy in mice.
It references [this article] from BBC (which isn't a reliable source). The ultimate source for that study is [Guy et al., 2007], and in that study, the Mecp2 gene was repaired by manipulating the gene in a transgenic mouse that had the gene disrupted in order to restore functional Mecp2. Upon restoration of Mecp2 gene function, the Rett syndrome phenotypes disappeared in the mice. This is, however, quite different from gene therapy. What it does tell us is that restoring MECP2 gene function to what it is in non-Rett individuals is likely to eliminate Rett syndrome in Rett patients. I would reword that statement to say:
Currently there is no cure for Rett syndrome, but it has been shown that restoring MECP2 gene function may be the path to a cure.
I know it might seem like silly semantics, but that's what we're here for, right? :) If there's no argument, I will change this in a few days.Mjatucla (talk) 04:51, 19 August 2008 (UTC)
thread_title:  Regarding Gene Therapy for Rett Syndrome 

message: can arise (1) sporadically or (2) from germline mutations
How are these different?  A germline mutation in a parent causes sporadic cases, right? 72.75.81.72 (talk) 01:56, 20 June 2009 (UTC)
thread_title:  Sporadic/de novo 

message: All that is stated in this section is a discussion of current treatments and very early research into a cure.  I'm not the one to put it in (as I don't know much about Rett in a scientific, only anectodal, sense), but could someone please state the various current prognoses for those with Rett Syndrome?  I've only ever met two people with Rett; both were exceedingly mentally and physically impaired with very limited awareness of what was happening around them.  I know that this is not always the case; could someone with a greater understanding of the disease please spell this out?  Also, is 'parental counseling' really a treatment for the patient?  I understand that it's most necessary, but I don't know if I'd classify it as a treatment. This section really needs a cleanup (there's a question in it!) Thanks! --24.12.182.103 (talk) 07:19, 15 December 2009 (UTC)
thread_title:  Treatment/Prognosis Section Cleanup 

message: I'm not sure if it's just me misreading but this article seems to suggest that Rett syndrome is always caused by a mutation on the MECP2 gene when actually it's only 80% of people with classic Rett syndrome and even less than that with atypical Rett syndrome who have this mutation identified. Rett syndrome is still a clinically diagnosed disorder and I don't think this article really reflects that at all.  — Preceding unsigned comment added by Brooke33 (talk • contribs) 20:43, 23 July 2011 (UTC)
thread_title:  Genes 

message: What does "modifying social medications" mean? please update the article accordingly. 109.67.203.222 (talk) 06:49, 4 June 2012 (UTC)
thread_title:  "modifying social medications" 

message: I don't know how to revise the references.  In the article the following citation (#44) needs to be corrected from http://www.rettsydrome.org/ to http://www.rettsyndrome.org/, (letter "n" missing).
Thanks  — Preceding unsigned comment added by GeeBee60 (talk • contribs) 00:34, 8 February 2014 (UTC)
thread_title:  Reference Correction 

message: "MECP2" is capitalized in various different ways throughout this article.  Can it be corrected to just one form?  — Preceding unsigned comment added by Josephandrade (talk • contribs) 16:45, 16 March 2014 (UTC)
thread_title:  MECP2 

message: The text of this article is in part directly copied from the recent textbook named in the section heading.--Quisqualis (talk) 14:20, 3 May 2017 (UTC)
thread_title:  Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 

message: In this edit the following text was added
"People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills and some affected individuals will lose the ability to walk while others will never be able to walk. Scoliosis, growth failure, respiratory problems and constipation are very common and can be problematic"
No were in this ref does it say 80%.
This is overly specific for the lead IMO "The MECP2 gene has a very diverse pool of binding partners and downstream targets, resulting in a huge variety of mutations and wide range of phenotypic variability and severity in people with Rett syndrome"
Also the language "phenotypic variability" is overly complex. The lead is to be written in easier to understand English.
We do not preface people's names with "Dr."
This is a primary source and we should be using secondary sources
We often write the leads to follow the order of the body of the text per WP:MEDMOS. Not sure why the well referenced and written in easier to understand english "It affects about 1 in 8,500 females." was put into an overly long sentence "with an incidence of 1 in 10,000 live births"
This is not needed "While the disorder was identified scientifically and could be reliably diagnosed, the causes remained unknown for decades." We already say as much "described in 1966 cause discussed in 1999" our readers can do the math.
Doc James (talk · contribs · email) 14:27, 14 October 2017 (UTC)
thread_title: Not in ref and other issues

message: I plan to include physical therapy treatment methods, Treatment and Diagnosis sections, reformat and simplify the whole page, and add pictures. Cushmank (talk) 20:42, 28 September 2017 (UTC)
thread_title: Plan for Rett syndrome Page

message: Clean up the treatment section were there may be too much information included. Also, there is a section on occupational therapy, what about adding a section for physical therapy? 
The diagnosis sections seems to have minimal information as compared to other sections of the article, more research needs to be done on the diagnosis of Rett Syndrome and included in the article. 
Is the mechanism section necessary? If so, feel free to simplify it a bit, there seems to be too much detail in this section of the article. Halestorm18 (talk) 20:22, 16 October 2017 (UTC)
replies: text: We could remain the occupation therapy section simply therapy and discuss both under one heading. Doc James (talk · contribs · email) 08:49, 17 October 2017 (UTC)
thread_title:  Suggestions 

message: This article is well written and provides a good information regarding the disorder. A few things that could be improved are going into a little bit more detail regarding the autism like symptoms that are presented. It just says there are autism like symptoms but does not say what exactly. It also may be helpful to list some common drug names that are given for this condition under the treatment section.  — Preceding unsigned comment added by Thibault110583 (talk • contribs) 23:29, 11 November 2017 (UTC)
thread_title:  Ideas for Improvements 

message: I believe it is important to differentiate between Clinical signs and symptoms in encyclopaedic articles. This article had a large predominance of the word 'symptom' when the term 'sign' or 'clinical sign' was more accurate. I have remedied this. It is hard to imagine a child or person with this condition exhibiting symptoms i.e. Complaining about pain, discomfort, lack of function etc. Richard Avery (talk) 23:29, 4 December 2017 (UTC)
thread_title:  Signs versus symptoms 

message: The meaning of the statement in the 'Variants' section, "The signs of Rett syndrome typical form are perfectly identified (e.g. see above)", is unclear and appears confused. The section "Stage I" states the symptoms as "somewhat vague" - it is therefore surely misleading to state later that they are "perfectly identified". It's not even clear to me what this is supposed to mean - in what sense are the signs identified "perfectly"?  — Preceding unsigned comment added by 86.171.130.103 (talk) 05:45, 9 June 2019 (UTC)
thread_title:  Unclear and possibly false statement: "Signs of Rett syndrome typical form are perfectly identified". 

message: The following Wikimedia Commons file used on this page has been nominated for deletion:
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Participate in the deletion discussion at the . —Community Tech bot (talk) 04:36, 15 June 2019 (UTC)
thread_title:  A Commons file used on this page has been nominated for deletion 

message: All the sources I could find use the wording "Rett syndrome (RTT)" without any explanation what does the acronym mean. Does anybody know why it's called RTT and not RS? I guess it may probably come from a list of symptoms or an identifier of some specific mutation, but nothing seems to fit. Rotatoria (talk) 15:47, 16 December 2020 (UTC)
replies: text: Not sure on the exact reason, but it could be another genetic disorder could've already taken the acronym RS. For example (weird example at that) Antisocial Personality Disorder and Avoident Personality Disorder both could be acronymed as APD, but because to differentiate them they used AsPD and AvPD. there could be other reasons but thats the one i thought of. KIMORII (talk) 17:10, 20 November 2023 (UTC)
thread_title:  What exactly does RTT stand for? 

message: Is this picture of an unconscious person at the dentist really appropriate? Does it communicate anything useful about the subject? Is it a good representation of people who have this disorder? I think the answer is no... — Preceding unsigned comment added by 66.190.13.201 (talk • contribs) 22:46, 13 February 2021 (UTC)
replies: text: I had the same thought and switched it out. We have a perfectly good alternative image that wasn't being used on enwiki (although was on ptwiki) -- people need to check Commons more! Vaticidalprophet 13:46, 21 October 2021 (UTC)
thread_title:  Very strange, dehumanizing article picture