Talk:Rett syndrome

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Factual inaccuracies

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)

I removed the X linked dominant picture as it suggests a Mendelian style of inheritance and may confuse some people. As the correction has been made, it is a de novo rather than an x dominant / recessive inheritance. —Preceding unsigned comment added by 172.201.204.108 (talk) 17:06, 4 November 2007 (UTC)

Flagged for cleanup

Article is a grammatical and spelling nightmare and uses overly brief prose (almost entirely lacking articles like "the" and "a.")

Confusing paragraph

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)

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)

Helping clean up Rett syndrome

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).

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)

Dominant or recessive?

• "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)

• Good spotting. (Here's the diff that claimed that Rett is recessive). It's X-linked dominant (which is a bit different than autosomal dominant). See Sex linkage and Autosomal dominant. 203.34.41.43 08:21, 23 May 2006 (UTC)

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)

And an "affected father" reaching reproductive age. 203.34.41.43 04:24, 25 October 2006 (UTC)

Gonads or Gametes?

"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)

hahaha, nice... yer, change it. KX36 15:50, 9 February 2007 (UTC)

maternal-paternal X-inactivation ratio

"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)

Expand tag

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)

Genetics Section

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)

Mouthing

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

My understanding is that mouthing is involuntarily putting their hands in their mouths. http://www.healthline.com/galecontent/rett-syndrome http://www.rettsyndrome.org.uk/_downloads/OT_Q3.pdf 216.226.176.142 19:28, 18 October 2007 (UTC)

I would say also, that not all 'Rett' girls perform this action. Proof being, my sister has rett syndrome and has never performed this said action. 24.72.36.34 (talk) 23:12, 5 April 2011 (UTC)

Revision suggested, causes (x-chromosomal vs. mutation)

"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)

Hi Nerusai. I think part of the confusion is that people with Rett syndrome don't generally have children. If they did, the MecP2 mutation would be X-linked dominant. I agree, it is a de novo mutation in almost all cases (as reflected in the article). The few familial cases of Rett syndrome, however, were inherited in an X-linked dominant way.

Rett syndrome is not completely exclusive to females, though the presentation in males is different, and males with the MecP2 mutations commonly found in females with Rett syndrome are unusual.

I would reject the title change. Almost all websites and research articles call it Rett syndrome, and it is called this in the DSM and ICD.

Ami AmiBebbington 06:47, 7 November 2007 (UTC)

Added redirect from Rhett Syndrome

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

"Rhett syndrome" is a mis-spelling of Rett syndrome, not another name for it. It is named after the person who first published about it, whose name was spelled "Rett". Still, good idea to add the redirect, people can get confused. AmiBebbington (talk) 02:41, 15 February 2008 (UTC)

Gender and Rett's syndrome section

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)

Your first paragraph is an excellent contribution. I changed a bit of the wording, because although people with Rett syndrome technically are "mutants" this is not a term that is generally used to describe people with genetic mutations. I added a bit more information about males and Rett syndrome, with references, and tidied up some of the sentence structure around "MECP2 mutations". The mutations are mutations of the gene MECP2, and there are many different ones (more than 200 have been described), so it isn't quite accurate to say that people with Rett syndrome are affected by "the MECP2 mutation". Hopefully adding the primary reference to the fact that some (46XY) males have indeed been born with mutations of MECP2 that are associated with Rett syndrome in females, which discounts the idea of universal lethality to 46XY fetuses, has cleared this up. The main issue is that male neonates with possible Rett syndrome present with such different symptoms (neonatal encephalopathy) to females with Rett syndrome that the genetic test for a mutation of MECP2 isn't suggested. The true incidence of this is therefore extremely difficult to ascertain. AmiBebbington (talk) 06:59, 24 April 2008 (UTC)

Thanks, I'm glad to contribute. Also, good job on cleaning up the mutation wording; it's important to be consistent so those who don't necessarily know the difference between, say, an allele and a gene can understand and be free of confusion. Hell, I have a degree in biology and I get confused sometimes, heh. But yeah, referring to "the MECP2 mutation" implies MECP2 is a mutation, so to be accurate one would refer to a "mutation in the MECP2 gene" (although I prefer 'locus'). Interesting point regarding the failure to diagnose Rett's in males, due to both the notion that it only affects females, and the symptoms as you describe. Again, thanks for the feedback and for helping to clean up the article! Mr0t1633 (talk) 13:44, 20 May 2008 (UTC)

Revisiting Mode of Inheritance

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)

Regarding Gene Therapy for Rett Syndrome

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)

Sporadic/de novo

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)

Treatment/Prognosis Section Cleanup

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)

This section, especially the second paragraph, is quite confused. Several incorrect assertions are made. For example "Females with a MECP2 mutation, however, have a non-mutant chromosome that provides them enough normal protein to survive longer". This is incorrect: whilst a female has two X chromosomes in every cell, one of them is inactivated at random. Thus the X chromosome differs from autosomes (non-sex chromosomes) and the other copy of MECP2 cannot compensate for the mutated copy. See the Wikipedia entry on X-inactivation.

The female body is a mosaic of areas with the maternal X and others with the paternal X. The reason that Rett syndrome exists is that some parts of the body (in particular, parts of the brain) have a functioning maternal MECP2 and others the dysfunctional paternal copy (assuming that the paternal X is the cause, which is the case more often than not). Males, on the other hand, have no functional MECP2, so every part of the brain is affected, usually resulting in death in utero. The very varied symptoms of this syndrome depend on which parts of the brain are affected. It is also possible for a female with the mutation to be unaffected - this implies that her brain has inactivated the faulty copy - and yet her children can be affected. Such cases have been reported in the literature: Article in the journal Nature. There is a good layman's guide here: Rett Syndrome Research Trust. Marchino61 (talk) 06:17, 20 June 2015 (UTC)

Genes

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)

"modifying social medications"

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

"modifying social medications" doesn't mean anything, as far as I can find - it needs a reference (which I have been thus far unable to find) or it needs to be removed. This is part of the larger issue of cleanup needed (see note above). I'm a user of this site (no real experience in editing) and do not know the protocols, but it is my belief that this statement should be removed or at least flagged as potentially inaccurate. This has been noted as needing help since 2009, how can we get attention from an editor to this? 73.13.143.125 (talk) 17:31, 10 May 2015 (UTC)

Reference Correction

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)

MECP2

"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)

The correct form is MECP2 for the gene, and MeCP2 for the protein. I have gone through the article, and now I believe all mentions of MECP2 are now correct. Marchino61 (talk) 05:51, 27 June 2015 (UTC)

However, I left in some references to Mecp2 in the text dealing with mice, as this seems to be the usual terminology when experimenting with mice. We scientists are not always as consistent as we would like to be with terminology. Marchino61 (talk) 06:11, 27 June 2015 (UTC)

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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)

Not in ref and other issues

In this edit[1] 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%.[2]

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[3]

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)

References

Plan for Rett syndrome Page

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)

I plan to add additional references to the signs and symptoms section, as well as add additional information to this section to make it flow more smoothly. I also plan on editing the diagnosis section and adding information about how is it diagnosed, are there diagnostic criteria from the DSM-5, at what age is it most commonly diagnosed, which medical professionals are involved in the diagnosis process. Peer-reviewed references need to be included. The treatment section also needs additional information such as is physical therapy appropriate in children with Rett Syndrome and how can it be beneficial? The page as a whole needs to be reformatted to be easier to understand. Wacomer (talk) 20:56, 28 September 2017 (UTC)

I plan to add information about physical therapy treatments for children and adults with Rett syndrome. I also plan on updating the article as a whole because it needs more recent and relevant references to make sure the article reflects the most current and up to date information available on Rett Syndrome. Sarah1124 (talk) 22:29, 28 September 2017 (UTC)

Suggestions

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)Halestorm18

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)

Under the signs and symptoms section, the bullet points would look much cleaner and consistent with the rest of the page if they were directly under one another. Otherwise, the page looks well put together so far besides a few grammatical corrections. GR3GP1K3 (talk) 01:49, 18 October 2017 (UTC)

This is a very detailed page. I believe this is good, as all the bases are covered. However, it comes across as a bit cumbersome and may have an unnecessary amount of information included. The therapy section could be a bit more detailed, as it does not describe much for specifics in the way of the PT and OT role. Other than this, the page looks good. Kplourde8 (talk) 22:06, 21 October 2017 (UTC)

I think this page is very informative to readers that are not in the medical field, and for those who are and haven't been exposed to this. This page could be more concise allowing readers to not feel so overwhelmed at its girth. Also explain what motor milestones are, what you are looking for, how this impacts; it is a little vague as it stands now. I do like how the diagnosis section is set up; it is easy to see and classify these tools and tests. Woodem (talk) 18:17, 10 November 2017 (UTC)

Ideas for Improvements

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)

Signs versus symptoms

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)

Unclear and possibly false statement: "Signs of Rett syndrome typical form are perfectly identified".

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)

A Commons file used on this page has been nominated for deletion

The following Wikimedia Commons file used on this page has been nominated for deletion:

• RettScoliosis.png

Participate in the deletion discussion at the nomination page. —Community Tech bot (talk) 04:36, 15 June 2019 (UTC)

What exactly does RTT stand for?

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)

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)

Very strange, dehumanizing article picture

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)

What a strange series of assumptions you have made - Dehumanized? Unconscious? 134.21.35.208 (talk) 08:03, 11 October 2021 (UTC)

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)