Talk:Fragile X syndrome

message: Too many or too few repeats may perhaps impact ovarian aging. Should this rate a mention?
See: http://www.newscientist.com/article/mg20427333.000-genes-show-when-a-womans-biological-clock-will-stop.html
114.77.209.92 (talk) 10:34, 8 November 2009 (UTC)
thread_title:  Link to Ovarian Aging? 

message: A reference for the prevalence rate is needed.  Here is one:
CDC estimates that about 1 in 4000 males and 1 in 6000 to 8000 females have the disorder.http://www.cdc.gov/ncbddd/single_gene/fragilex.htm   76.198.137.52 (talk) 00:15, 23 June 2009 (UTC)
replies: text: Hi, I'm Kerrie and my entire family is affected by Fragile X -- one of my sisters and I are carriers and our children are affected: She has 3 adult children; her eldest son and daughter are seriously affected and her second son is fully autistic. I have two daughters, my eldest was not affected and my youngest is fully involved, meaning she's seriously developmentally delayed with some autistic tendencies. Anyway, the reason I'm pitching in here is because the former writer was incorrect when he wrote, "... a female needs to have both chromosomes X with the defect in order to be infected. First, no she doesn't: ONLY ONE affected X can and will cause symptoms from mild to severe, depending on the number of CGG repeats attached to that X. And please be sensitive with your choice of terminology: infected suggest an outside cause has infiltrated and infected the body, while this syndrome is genetic... you're either born with it or you're not. You can't catch it like some infectious disease. "Affected" is a better choice. Thanks. 76.102.191.124 (talk) 05:38, 24 March 2008 (UTC)

text: I am not an expert, but I am a carrier and I am also the mother of a son with the full Fragile X mutation.  The statistics are correct.  First, there is a difference in the term AFFECTED, which the article refers to and INFECTED, which you reference above.  It is complex and I could not begin to rebut your comments, but if you are truly interested in learning more, see the links that I added to the web site.  They can and do explain how statistically this is not only possible, but  a reality.  Welcome to my world!--216.190.180.240 04:05, 26 Jan 2005 (UTC)
replies: text: The figures as originally stated seemed to refer to the prevalence of the syndrome rather than the prevalence of the mutation that causes the disease, which, as Bernard points out, didn't make sense, as it's X-linked. I think it's accurate now. - Nunh-huh 04:18, 26 Jan 2005 (UTC)
thread_title:  Incidence rates 

message: Regarding the question if Fragile X and Autism are connected: YES! Several studies by the M.I.N.D. Institute in Davis, CA show a connection and they believe that Fragile X is one of the LEADING undiagnosed causes of Autism. Thanks, Kerrie, Novato, CA, 3/23/08
I think current research says no:
Klauck, S., Munstermann, E., Bieber-Martig, B., Ruhl, D., Lisch, S., Schmotzer, G., Poustka, A., Poustka, F. (1997) Molecukaleblar genetic acoryell
nalysis of the FMR-1 gene in a large collection of autistic patients. Human Genetics, 100,  224-229.
Based on my own reaserch on the subject I found hthat there is no connection with Autism except that in 15%-20% of the children can display autism like symptoms Fragile X and Autism
There is a connection between Autism and Fragile X. The Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) defines Autistic  spectrum disorders (ASD) by a list of clinical criteria. All children with Fragile X meet this criteria. In addition approximately 15% to 20% meet the full criteria for Autism, making Fragile X the leading genetic cause of of autism. In addition, there is a relationship between FMRP (the protein absent in Fragile X) and autistic behavior: low levels of FMRP are associated with higher mean levels of autistic behavior as measured by the Childhood Autism Rating Scale (CARS). As clinicians have begun to use the genetic test for Fragile X amongst their autistic patients, they have begun to separate out known causes of autism, like fragile X and others, from the larger pool of autism (of unknown cause); separating the disease by cause instead of by clincal features has lead to confusion. In the end there are likely to be hundreds of genetic causes of autism (including the currently known ones), but how all of these mutations lead to the same disease is yet to be discovered. 
Trottier, G., Srivastava, L. & Walker, C. D. Etiology of infantile autism: a review of recent advances in genetic and neurobiological research. J Psychiatry Neurosci 24, 103-15 (1999).
Hatton DD, Sideris J, Skinner M, Mankowski J, Bailey DB Jr, Roberts J, Mirrett P. Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. Am J Med Genet A. 2006 May 12
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"Fragile X syndrome can cause a child to have autism or an Autism Spectrum Disorder (ASD)"
UNTRUE. the reasons for autism are not even known. This is grossly misleading. please remove. there is no scientific studies suggesting this. many people have both conditions, but neither is caused by the other.  —Preceding unsigned comment added by 86.52.80.41 (talk) 11:58, 19 December 2010 (UTC)
thread_title:  common cause of autism 

message: As far as I can tell, Martin-Bell syndrome is just another name for Fragile X syndrome, so I would assume the articles should be merged. 
http://www.emedicine.com/ped/topic800.htm http://www.autism.org/fragilex.html
65.66.86.67 15:16, 21 February 2006 (UTC)
replies: text: I merged them, and will work more on the article. NCurse  work 08:50, 22 October 2006 (UTC)
thread_title:  Martin-Bell merge 

message: The mutation doesn't actually make the X chromosome fragile or more likely to break into two, does it? John Riemann Soong 23:32, 20 August 2006 (UTC)
replies: text: No, fragile refers to a constriction followed by a thin strand of genetic material seen on karyotyping, giving it a fragile appearance. I have never heard of it actually being actually more fragile. --WS 23:42, 20 August 2006 (UTC)
thread_title:  Fragility 

message: Recently, someone added a category that Fragile-X is a chromosomal abnormality.  Several things can be said about Fragile-X.
#It is classified in ICD as a chromosomal abnormality (Q99 -- Chromosomal abnormalities, not elsewhere classified).
#It can be diagnosed using a karyotype test, which looks for an unusually formed X chromosome (hence the initial classification).
#It is a single-gene effect, and modern tests no longer use the karyotype tests.
I don't believe that many human geneticist would currently classify Fragile-X as a chromosomal abnormality, if any would.  It is no more a chromosomal abnormality than is, say, myotonic dystrophy or Huntington disease.  On the other hand, it is verifiably misclassified as such by a reputable source.  I'm inclined to delete the classification, as it is misleading, particularly to individuals who are coming to Fragile-X for the first time. Genetics411 21:30, 15 January 2007 (UTC)
replies: text: It is also classified as a chromosome disorder by Medical Subject Headings, and that classification is updated every year. And it isn't as though the classification has been abandoned -- Ectodermal dysplasia was classified as a chromosomal disorder in 2006 but not in 2007, which strongly implies that Fragile X's continued inclusion in the category is due to a recent choice made by National Institutes of Health researchers, not due to inertia. --Arcadian 05:24, 20 January 2007 (UTC)

text: While you are correct that Fragile X, being a trinucleotide repeat disorder, is not caused by a translocation or aneuploidy, the syndrome and the visible karyotypic abnormality go hand in hand. Either way, I'd rather go with the ICD code even if it's a bit misleading. If the ICD classification is in dispute that's a matter to take up with them, not on wikipedia. Unless of course you can cite an external reference disputing the ICD classification... Robotsintrouble 14:24, 26 January 2007 (UTC)
thread_title:  Chromosomal Abnormality 

message: What is the life expectancy of a person with the Fragile X syndrome? —The preceding unsigned comment was added by 69.238.218.141 (talk) 01:57, 11 March 2007 (UTC)
thread_title:  question???? 

message: "Researchers at the Picower Institute for Learning and Memory at MIT have, for the first time, reversed symptoms of mental retardation and autism in mice."  Brian Pearson 03:53, 26 June 2007 (UTC)
replies: text: I tried to include it, but didn't want to write more about it. Thanks for the link! NCurse  work 19:42, 26 June 2007 (UTC)
thread_title:  Symptoms of MR reversed in mice 

message: It is suspected that Chris Benoit's son had Fragile X, and this may have played a part in the tragedy.  Should this be mentioned in the article?--Bedford 02:26, 29 June 2007 (UTC)
replies: text: Where is it "suggested"? If you can provide a reference please add it, otherwise it seems like mere speculation. (Citation tag placed) ABVS1936 05:43, 30 June 2007 (UTC)
thread_title: Benoit tragedy

message: http://www.plosone.org/article/info:doi%2F10.1371%2Fjournal.pone.0000931
Kelley DJ, Davidson RJ, Elliott JL, Lahvis GP, Yin JCP, et al. (2007) The Cyclic AMP Cascade Is Altered in the Fragile X Nervous System. PLoS ONE 2(9): e931. doi:10.1371/journal.pone.0000931
This paper could be added to the References section and was published using the Creative Commons License http://www.plosone.org/static/license.action 
The following could be added to the current research section:
At the University of Wisconsin-Madison Waisman Center, scientists identified that production of cyclic AMP, a signal transduction molecule, is reduced in fragile X brain. This alteration was consistent across  fragile X fly, mouse, and human neural models. Rescue of the reduced cAMP production in the fragile X fly was possible by reintroducing the FMR1 gene.
Abe2mu (talk) 06:37, 23 November 2007 (UTC)
thread_title:  Cyclic AMP Defect in Fragile X Brain 

message: Given that inheritance of fragile X syndrome is complicated and an X-linked dominant condition, the diagram on the right is completely inappropriate. Not only does it make the disorder appear recessive, but it doesn't even begin to show the actual mode of inheritance. If there is no suitable diagram available, surely it is better to use none than to use such a misleading one? Unless there are any objections, I'll remove it within the next week. –79.74.96.98 (talk) 06:57, 27 May 2008 (UTC)
thread_title:  Removal of XlinkRecessive.jpg diagram from article 

message: Many of the links in the citations use URLs that direct the user to the University of Arizona's authentication portal. I suspect direct ebscohost links are possible?
e.g. 
FergusRossFerrier (talk) 06:17, 6 May 2010 (UTC)
thread_title:  Arizona Edu Library 

message: fragile x syndrome is an X-linked recessive disorder, not X-linked dominant  —Preceding unsigned comment added by 117.198.111.201 (talk) 08:06, 9 December 2010 (UTC)
replies: text: The source given, European Journal of Human Genetics, says it's dominant. You'll need to give a citation which is more authoritative than that, which might be difficult. A retraction by that journal would certainly be sufficient.-gadfium 08:41, 9 December 2010 (UTC)
thread_title: Recessive or dominant

message: Someone had essentially copied part of the abstract to this article, seemingly without reading the article as a whole. I don't have access to it, but I'll leave it here in case someone can make use of it.
* Cornish Kim, Turk Jeremy, Levitas Andrew | year = 2007 | title = Fragile X Syndrome and Autism: Common Developmental Pathways? | url=http://www.ingentaconnect.com/content/ben/cpr/2007/00000003/00000001/art00008 | journal = Current Pediatric Reviews | volume = 3 | issue =1 | pages = 3–4  — Preceding unsigned comment added by Watermelon mang (talk • contribs) 00:34, 31 January 2012 (UTC)
thread_title:  Removed reference 

message: I haven't found a reference for this section as yet, so I'll leave it here for now.
:Current evidence shows that individuals with premutation have difficulties with mathematics, anxiety, attention, and/or executive functions. There is also a decrease in measures of executive cognitive functioning, working memory and information processing speed. The relative weaknesses observed in performance IQ can be partly attributed to slowed motor performance as a result of intention tremor. 
Watermelon mang (talk) 15:35, 1 February 2012 (UTC)
thread_title:  Intellectual disability in premutation 

message: This section is unclear and I don't have access to the full article so I can't really do much about it. I'll leave it here in case someone else can make something of it.
:Mental age is positively correlated and autistic behavior is negatively correlated with sadness in a particular study. The results shows that there are different behavioral profiles for young children than there are for older aged children which implies that temperament and problem behaviors are not rooted in early temperament.
|last=Shanahan |first=M. |first2=J. |last2=Roberts |first3=D. |last3=Hatton |first4=J. |last4=Reznick |first5=H. |last5=Goldsmith |title=Early temperament and negative reactivity in boys with fragile X syndrome |journal=Journal of Intellectual Disability Research |volume=52 |issue=10 |year=2008 |pages=842–854 |doi=10.1111/j.1365-2788.2008.01074.x |pmid=18498331
Watermelon mang (talk) 14:35, 2 February 2012 (UTC)
thread_title:  Temperament 

message: The text has the following statement:
The transmission of fragile X often increases with each passing generation. This seemingly anomalous pattern of inheritance is referred to as the Sherman paradox. My understanding is that the transmission of fragile X doesn't increase with each passing generation, but that the effects of fragile X increase with  each generation.
Would love for someone with more information to comment.
Fandeta (talk) 12:35, 28 March 2011 (UTC)
thread_title: Question

message: Fragile X syndrome and Autism are superficially similar, yet different. Do your research and get it right.  — Preceding unsigned comment added by 72.70.192.193 (talk) 13:01, 17 December 2014 (UTC)
replies: text: They aren't the same thing but they are linked. Andrea Carter (at your service | my evil deads) 03:44, 14 August 2015 (UTC)
thread_title:  FXS and Autism 

message: Under the heading Transmission, I would like to include my addition found in a journal article as follows: 
Due to this, male children often have a greater degree of symptoms than their mothers.
This would be placed in the last sentence of the 2nd paragraph. I'm new to wikipedia so I wanted input on my proposed edit before I post it.
Gatorgood2017 (talk) 18:29, 14 April 2015 (UTC)
thread_title:  Transmission 

message: Looks as if this is a copy edit error. Thoughts?(Littleolive oil (talk) 23:24, 26 February 2016 (UTC)
thread_title:  Fragile X not fragile x 

message: Is the second photo used in this article (the one with a boy wearing a yellow shirt) of any use? I have no idea whether the subject actually has this syndrome but the photo is meant to illustrate prominent characteristics of the syndrome; in fact it does nothing of the sort as he looks perfectly 'normal' with neither a particularly long face or protruding ears.Sbishop (talk) 10:36, 1 February 2022 (UTC)
replies: text: @Sbishop Actually, their face is a little long and their ear sticks out a little. The ear is just at an angle. It's also not a typical photo you'd see in textbooks (subject standing without a shirt and possibly without pants, with a black bar across the eyes); in fact, you see someone with a disability actively doing something. I dream of horses (Contribs) (Talk) 21:05, 20 July 2022 (UTC)
thread_title:  Appropriate photograph