Talk:2011 Group Project 5
PEER REVIEW COMMENTS
- Introduction; well written but too brief. Need to include more information.
- Not sure if the 'screening' section is appropriate under the title 'epidemiology' especially because there is no inclusion of epidemiological data gathered from these tests but just explanations about their usage.
- I suggest using Microsoft word, power point or paint to draw the student drawings rather than from hand, especially images such as the one in the introduction showing X chromosome. Would look much more neater and professional.
- It also might be a good idea to hyperlink words in the text with the glossary. Makes it much more user friendly.
- The genetic section is well researched however the information is bit too confusing and the layout is messy. Try using tables to summarize the information.
- The section on 'development' of the gene is well written. Try and include imaged of patients at the different stages to compliment the writing.
- Try and incorporate a table in the 'signs and symptoms' section which is very text heavy.
- Diagnosis: section is a bit too brief. Not sure if this is possible but try and include images of these lab results characteristic of FXS in this section.
- Like the use of table in the 'treatment' section. Much more easier to read and understand.
- Glossary: needs to be expanded.
--Warnakulasooriya Fernando 09:38, 29 September 2011 (EST)
Be nice? Group 5 evaluation
- The information in the introduction is good but it is way too brief. The other section of the page was not introduced or not introduced properly, like the diagnosis section. Adding these bits would probably make the introduction good and a bit more informative as to what to expect from the page. Also reference them.
- The history I think is fine the way it is.
- The epidemiology is good because you have touched upon the demography of the disease and its prevalence. It would have been better if you could add a bit more statistics on the geographical distribution of the disease, as it makes the section more credible than how it already is. Unfortunately I think the section from “Screening… “ onwards is not very relevant for this section. I would consider revising as to where this information should be placed under. I guess this section needs more research overall.
- The etiology is very informative and I think you have gone in-depth in the topic, and is well researched, but I think it needs some revision. The concepts were far too technical and it makes the reader a bit too confused about what the information is actually saying. The images are amazing, and if you could incorporate them in the text it would make the section better.
- The development of the disease section I think should be the pathogenesis of the disease. This section was not done properly, as I was expecting to see how the etiology and all the clinical manifestations relate to each other; instead it was all about the clinical manifestation. I think you need to look further into this section.
- The signs and symptoms section is very informative, but I am questioning the information as it is not referenced at all in most of the paragraph.
- Diagnosis should probably changed to diagnostic tests because the diagnosis is Fragile X. The information is good for introducing the techniques to the reader. I think further description of the tests is needed.
The treatment section has some very good information on it that describes the treatments used for the disease. It could probably be better if you could highlight the actual treatments and make it stand out.
- Recent research is a bit disappointing because the most recent research that were presented is 3 years ago. As a reader, this makes me question the content of the page, whether it is up-to-date or not. It would also be good to have a more recent paper/research and the inclusion of future direction of this disease.
Some places for improvement.
- Double spacing of paragraphs looks awkward.
- The lone sentence at the beginning of the history is unnecessary.
- Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page.
- In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from?
- Research section would benefit from the bolding of paper headings or authors names.
- Glossary could be expanded, very minimal.
- References need to be fixed. There are many that are just a web address. Full citation is needed.
--z3217043 09:13, 29 September 2011 (EST)
Group 5 peer Review
- Introduction has good information, but it needs to be more catchy for readers to want to read onto the page.
- the first line of the history section seems not to be so greatly relevant to the history section. Also in the table there’s a 30 year gap at the start of the table. No important things happened during this time?
- I don’t think the information for ‘Screening/Population testing’ is necessary to be put under the epidemiology section, rather under diagnostics.
- Explanation about the genetic location of the mutation should be given. Also information found under aetiology should be re-formatted so it is easier to read.
- The development of disease section has good information. Would it be possibly to accompany these sections with images.
- Some parts under signs and symptoms are not referenced properly as it is lacking the referencing. Also possibly include some more pics/graphs/audio/movies in this section to accompany the text.
- Diagnosis section must be expanded upon. It has potential as concepts are there but more info could be included.
- Nice use of a table in the treatments section
- the paragraph starting with: ‘’ Autism is a disorder whose etiology is not…’’ should be placed to flow with the first sentence in the recent research section. It will make the paragraph flow better.
- acronym for ‘’ Autism Diagnostic Interview (ADI-R)’’ seems bit odd, what does the R stand for?
- if possible add an article from 2011 in the recent research section to make it though you are showing the reader the most cutting edge research in this field.
- Glossary must be expanded upon, many words have not yet been included.
- In the referencing section the referencing is done well. I did notice a repetition in the referencing in reference number 37 and 38. Please fix up.
- More images are needed on the page to get the image and text ration right, especially towards the middle of the page.
- other than that good page people.
--Z3291317 08:44, 29 September 2011 (EST)
- Introduction - ok except it was a bit hard to read with the text squeezed between the two images located left and right, maybe both images could be placed on one side, such as the right, to make it easier to read and add to the continuity and flow of the page. There is a lot that could be expanded on to add to the introduction, maybe a brief explanation of the FMR1 gene and the phenotypic manifestations as a result of it being silent.
- Etiology, not really sure but i don’t think you’ve referred to the images included here, formatting could be improved with both images being on one side
- Development of the Disease – very nice heading, information easy to follow and well referenced, best heading on this page, great job.
- Signs and Symptoms – another very well organised section
- Diagnosis – this section could be best suited to a table, making each technique easy to identify and define.
- Treatment – great use of a table, information is very clear and easy to understand.
- Glossary – more terms need to be added, such as the acronyms used throughout the page: ADHD, CGG, PCR, FXS, etc.
--z3331469 07:01, 29 September 2011 (EST)
Group 5 Peer Review
• Generally good sub-heading structure. The overall flow is consistent (nice pink tables!), however I think it could be tidied up more, for example; images placed on the right hand side of the page.
• Double up’s in references need to be removed.
• Introduction is brief and concise, good!
• Epidemiology could be improved by the addition of a table, and maybe the ‘Screening/Population testing’ section could be a sub-heading on its own.
• The first paragraph in the genetic contribution of Aetiology I feel could be worded better, but nice images and really good description of the cause of the abnormality.
• Development of the disease is a really good explanatory section, really informative! The addition of images here, would really improve it (if able to find them)
• More images needed in the signs and symptoms section. Also maybe the addition of a table to sum up the different signs and symptoms with the different age groups would help. This section seems incomplete to me, where are all your references?
• Diagnosis needs some more detail and possibly an image (for completion)
• The ‘signs and symptoms’ in the Treatment section aren’t really consistent/parallel with the ‘signs and symptoms’ section itself. This could be improved by adding a similar table in the signs and section sub-heading outlining the same ‘signs and symptoms’ (just an idea)
• Glossary needs a lot more definitions.
--z3289829 02:43, 29 September 2011 (EST)
- Intro: Like the hand drawn figure but it’s not explained and most importantly, the Image is not referenced at all. Define methylation perhaps- it’s not a good idea to have introduction with a lot of terminology because you will lose your audience if they can’t understand the initial part f the page. The description of features is brief and good way to introduce the disease, it would help if you could use an image of an affected patient instead of the chromosome (which can be sued in the etiology section)/
- History: Love the colour but perhaps add a few more events, it looks very short. You can link your bolded words to a glossary.
- Epidemiology: The “screening” section doesn’t belong here. The section explained in dot points is not referenced at all. The image is great, but there is no references to the original image or any explanation of the image itself. Genetic counselling subheading also doesn’t belong in this section.
- Etiology: Clear and easy to follow but there are words that need defining in the glossary. The section would benefit if the image of the chromosome was moved here. Perhaps more explanation on the FMR gene. The first image could do with a bit more explanation. There are words in there eg: 5UTR that are not easy to understand.
- Development of disease: Good, the subheadings help and its well-formatted. Need a picture explaining the development.
- Signs and symptoms: The image is great, you can use this as your introduction to make it a bit more engaging. You should also make it bigger and explain the distinguishing features. The research is thorough!
- Diagnosis: Very short, needs more detail.
- Treatment: Love the colour, very detailed
- Glossary: Needs a lot more work! There are many words that you will need to define. For example “ allele, permutation, asymptomatic...” list goes on.
- Reference: What’s happening in references 3-8? That’s not proper referencing format. Number 41 reference – a link isn’t a reference.
- Overall: You keep referring to the disease as either fragile X syndrome or FXS. It’s best to stick to one or the other to avoid confusion. Need more interesting images. Some excellent research but it could do with a bit of work. Good job so far.
--z3290270 02:31, 29 September 2011 (EST)
Introduction: Good pictures but they need to be bigger. Also, this section seems like a brief summary of the sections to come. I think it would be good if you included some more general background information on fragile x.
History: This section could be longer. The table would look good with some pictures in it.
Epidemiology: Great section and I like the diagram but some of the words in the diagram are hard to read.
Genetics: This section is reasonably well explained. The genetic terms need more explaining though.
Development: Good section but needs some pictures.
Signs and symptoms: Great section. Well written, flows well and easy to understand. Needs more pictures though.
Diagnosis: This section seems a bit short. Maybe you could explain how the diagnostic techniques work.
Treatment: The table seems too text heavy. Maybe add some pictures to break up the text.
Recent research: overall, good section. --z3291324 23:23, 28 September 2011 (EST)
Hi, I can see some progress on this page which is good, content is interesting
- The key points relating to the topic that your group allocated are clearly described.
- Introduction: What is FMR1 gene? Need more information here, as in when was it first discovered, some stats
- Epidemiology: I think screening information is extensive enough to be a section on its own
- Etiology: no explanation of FMR1 gene so far, what is its normal function? Also, please refer to images used in this section
- Development of the disease:nice succinct, easy to follow section. Perhaps add an image for one of the stages mentioned here?
- Signs: REFERENCING!!! But, content is good and interesting
- Diagnosis: An image here would be nice, and an explanation of how the technology is used to diagnose FXS
- Treatment: Nice table with good information
- The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.
- Need to balance out the text and image ratio, some good subheadings
- Content is correctly cited and referenced.
- poor referencing, which makes me question the reliability of the content in some sections
- The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.
- needs a lot more images
- Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.
- I feel more research needs to be done here
- Relates the topic and content of the Wiki entry to learning aims of embryology.
- Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki.
- Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement.
- The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning.
- Develops and edits the wiki entries in accordance with the above guidelines
"What would improve this project...."
- Although the content is here, there is still a lot of work needed to make this page feel complete
- glossary is very lacking in terminology
- need more images
- further research would be nice to explain this disease in more detail
--z3291643 22:56, 28 September 2011 (EST)
•The introduction lacks referencing and is a little short, but good use of the images to gain the attention of the reader though as I was reading it I would have preferred for the images to both be on the right hand side.
•The student drawn image on the right is not explained very well and does not contain the correct copyright information.
•Is the diagnosis section finished? It seems a little short and lacking in detail, maybe add some more information to this section, perhaps also an image to help build up this heading and make it more balanced with the other sections.
•Glossary is incomplete and should be in alphabetical order
•References are repeated, but good work on the research
•Overall I liked the formatting of the page, it is easy to read visually appealing and a good use of images to balance out the text.
--z3332183 21:28, 28 September 2011 (EST)
*The key points relating to the topic that your group allocated are clearly described. All main sections are there and well described.
*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area. Future research is well researched, but is there any other research possibilities that are on going to show breath of research? Glossary needs to be expanded - FXS as an acronym needs to be put there. Table in treatment has too much text. Put the text outside the table and use the table to summarise the content. The information in diagnosis is too brief and could go into a table. Consider expanding that section and provide more information on how and why the techniques diagnoses FXS.
*Content is correctly cited and referenced. File:Fragile site appearance and distribution.jpg needs to be correctly referenced. Duplication of references need to be fixed. Emotional characteristics, Language and Speech, Physical phenotype and Physical phenotype section needs references.
*The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations. no explanation given for File:Fragile x chromosome..jpg. more images would be good (Eg: in Fetal Development section maybe include an image of what a fetus looks like who has FXS?)
*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities. Decent reference list and good in-text citation but is missing referencing in some areas.
*Relates the topic and content of the Wiki entry to learning aims of embryology. Fetal development detailed.
*Develops and edits the wiki entries in accordance with the above guidelines. Has followed the guidelines but some changes would be good.
--z3329495 21:17, 28 September 2011 (EST)
GROUP 5: Fragile X Syndrome
- Info in the intro is ok but could be improved by maybe including more of an explanation of the CGG codon (some may not know what a codon is and what this implicates) and a small sentence on FMR1 gene
- The placement of the two images in the introduction is a bit weird, it disrupts the end of this paragraph. Consider just putting them on the same side or putting one of them in a different section
- I don't think the first sentence of the history section is history related, looks like it could be better placed in the intro
- Timeline is ok but could possibly be researched more to include more dates, but it's good that it goes up to 2010
- I don't know if Screening/Population testing goes under epidemiology, i think it's more part of management/diagnosis
- Etiology info appears clear and concise, maybe the image of the gene would be better placed in this section
- I find the section development of disease informative and summarised well. I like the way it's structured (subheadings are fitting), an image could improve this section
- Signs and symptoms looks like its been researched extensively, info is comprehensive and summarised well, a graph or another image could improve this section and balance out the text
- Physical phenotype has no referencing (where did this info come from?)
- Diagnosis is very underdeveloped, a lot more explanation is needed for these diagnostic techniques, images could also help improve this section
- Treatment is well researched, use of a table here is suitable, however maybe you could break up the writing by splitting up the Treatment Option and Description into two different sections of the table
- Recent Research is ok, a good intro paragraph may improve this section, maybe provide more recent developments
- Glossary is incomplete and many words need explaining, consider linking the highlighted words to the glossary as an improvement, also it might be a good idea to include acronyms in the glossary as well
- legends of images could be expanded a little more
- Reference list needs some work, I don't think links to websites are the proper way to reference
--z3331556 21:15, 28 September 2011 (EST)
Peer Assessment Group 5-Fragile X Syndrome
- The introduction contains a little bit of heavy info in it. You might want to introduce the complex concepts e.g.methylation of the CGG triplet so the reader can ease into the page.
- The absence of references in the introduction makes it feel unreliable.
- The History seems to be succinct, good work.
- Nice diagram in 'Epidemiology', however it is missing a description and copyright information
- Avoid the italics as it makes the page look inconsistent as you dont have italics very often throughout
- 'Development of Disease' is divided well into distinct sub headings, easy to follow
- 'Signs and Symptoms' is heavy with too much information, can you summarize some of it to condense the whole section. Also maybe consider finding some images to give it a better balance.
- 'Diagnosis' requires a little more explanation of what is involved in the different types of methods.
- The table in 'Treatment' needs division of the second column maybe into treatment option and a separate description just to make it look less heavy
- 'Recent Research' is structured nicely, makes it a lot easier to read
- The definitions in 'Glossary' are inadequate
- Avoid italics in the glossary
- The reference list needs some major reformatting
--Tahmina Lata 19:43, 28 September 2011 (EST)
Group 5: Peer Assessment
- Your page looks a bid 80's with all the different pinks in your table. Not a bad thing, however may be just one colour per table would be enough
- The introduction is too brief and written a little careless and lacks referencing.
- The history table is good in the way that it's chronologic and easy to read but you could write a bid more about the relevance of these events.
- Your drawing needs some copyright information and if the writing would have more contrast it would come more into account.
- The aetiology section is informative overall but some long sentences could be separated and more explanatory. Put the pictures on the same side may be to give it a bid more shape.
- The development of the disease section and signs and symptoms section read well and there is good use of subheadings.
- Is there some current research you could talk about?
- Your glossary and your references clearly need some editing and fixing up
- Overall your page seems to be written a bid careless but there are bids of interesting information in there. --z3279511 17:10, 28 September 2011 (EST)
Peer Assessment #5
- Intro looks funny with a pic on each side of the text – reconsider this formatting. Maybe both on one side and one under the other?
- Intro 1st para is very detailed for an intro- perhaps explain it more, or in more general terms. The detail will come later
- The intro sentence in history would be better in the intro.
- You keep referring to the FMR1 gene, but I have no idea what this is or how it is relevant. Please explain it somewhere! Maybe have a short para just on it and explain about it.
- In signs and symptoms, are ‘emotional characteristics’ and ‘language and speech’ meant to be their own subheadings, or subheadings of ‘intellectual development’?
- Diagnosis section is not complete, needs a lot more info and explanation of the techniques, how they work, why they are used/relevant. – Modified PCR section is too wordy.
- Treatment table is good, can you stretch it so it takes up the whole box instead of being centered? Would look better
- Recent research – surely there is more you can discuss/other areas?
- I’m sure everyone else has mentioned it, but the glossary needs work. Really, just define lots of the ‘big’ words, as you can’t assume everyone knows what they all mean.
--z3332824 11:59, 28 September 2011 (EST)
Group 5 Peer Assessment
- First student figure has no explanation as to what it's all about, and is a pretty simple diagram. What does it contain? Where is your copyright information? The same can be said with the second student-drawn figure. Make sure this is fixed!
- The introduction section appears to be pretty short. Try to keep away from using the brackets and just enter your information in a continuous format.
- The headings and subheadings work quite well. However, the lack of images in the signs and symptoms section make this difficult to read; it seems like a large block of text without anything to assist in the breakup of the page (making it difficult to read and easy for us to lose attention).
- Subheadings are used quite well. The treatment section is well presented in table format, but once again, any images to help break things up?
- The recent and future research section doesn't seem to be completed. Is there anything that can be done for the future of the disease? Is it related to any other disease processes? The glossary also seems short and isn't in alphabetic order. Please add all the terms to the glossary to ensure that there is completeness of the project! There are many terms that are difficult to understand, so slot them in here.
- There just needs to be more work done overall to ensure that the project flows smoothly and all the smaller details are accounted for. At the moment there is still a large part of the project that feels quite sketchy and requires more work.
--Leonard Tiong 10:33, 28 September 2011 (EST)
Group 5: Fragile X
- Introduction: Maybe a bit too concise, some of the content that should be in the intro is missing. Maybe this should be redone with references! Also, it doesn’t draw the reader’s attention unfortunately.
- History: Simple table, but a small explanation regarding the significance of the discoveries would be very helpful.
- Epidemiology: Nice picture, had to tilt my head a little. The “Screening/Population testing” seems like a whole new section itself. Might have to look into that?
- Etiology: This section was very well managed.
- Development: I like the subheadings, maybe an image to help add some visuals, but not required.
- Signs and Symptoms: This again, was well done, though detailed, the mass text was slightly disorientating, another image perhaps?
- Diagnosis: Looks incomplete, more info required, probably another sub-heading would do.
- Treatment: Best section in this webpage. Detailed and neatly laid out.
- Glossary: Some explanations and a few more words added here would do the trick!
- Overall: The basic fundamentals are there, some more info here, and a few tweaks there is all that is needed! Keep it up.
--Lisa Xiao 01:25, 28 September 2011 (EST)
- Introduction should be explained a little better and also referenced
- Hand drawn image needs the correct referencing/copyright info
- Good use of subheadings in epidemiology
- Etiology is a little hard to follow
- Development of disease needs an image to break up the text
- Signs and symptoms is very text heavy- try to change it up a bit i.e. use of dot points
- Good use of table in treatment
- Glossary needs to be extended
- Overall, this has potential to be a good project with a few adjustments
- Introduction: too much detail, give an overview. Only one of the images would be enough.
- History: well done
- Epidemiology: screening / population testing should be a separate section, very good image
- Etiology: well done,
- Development and Symptoms: both sections are clear and easy to follow, good use of subheadings
- Diagnosis: seems incomplete
- Treatment: very detailed
- Research: I would add some other examples. If you want to outline only autism, maybe change the heading.
- Glossary: there is a lot missing
- Make sure to include the copyright notice in all images
--Z3387190 21:31, 27 September 2011 (EST)
Group Peer assessment
- Introduction images placement may work better on one side or below the information though current placement is confusing affecting text as well.
- History requires more elaboration as well at least indication of the founder in the introduction of the history even an image of the founder would benefit this section, although the timeline is nicely done.
- Development and disease would be better as a sub heading under eitology as development of the disease links with the causation of the disease.
- Glossary needs work done as most terms are genetic related and those without a genetic background will find difficulty understanding the web page.
- Referencing only needs to adjust the links, links need to be sited properly manually.
z3332250 23:50, 26 September 2011 (EST)
Group 5 Peer Review
- Introduction does not entice the reader to read the rest of the page. Maybe less scientific language in the introduction?
- Table under history is well presented and visually appealing
- “Postnatally” and “postpubescent” need to have “development” added to the subheadings
- Well referenced
- The consistent colour scheme throughout is a nice touch
- Another image under signs and symptoms would make this section look more balanced
- Diagnosis seems brief-add information or perhaps merge with another subheading
- Glossary needs to be expanded
- Logical, clear and organised structure
- Overall, a good page. The bulk of it is there. If each section just changed some minor things, this page would improve greatly.
--Fleur McGregor 19:38, 26 September 2011 (EST)
Comments on Group Project 5
- The use of same reference for different part of the page is good.
- The treatment section is put together.
- Images are appropriate and useful.
- Formatting is not as best as it could be.
- For some sections, punctuation is a slight problem.
- The flow under the epidemiology section doesn’t seem quite right. Seems to give a disjointed feel.
- The section under Diagnosis could be further elaborated.
- Maybe testing and counselling can go under a new heading, “Management”.
- The subheadings “Post Natally” & “Postpubescent” could be changed to “Post Natal Development” & “Post Pubescent Development” instead to give it a uniform formatting.
- Some of the words in the page should be in the glossary section e.g. tactile defensiveness and face encoding.
- Improve format for some of the references.
- Include explanations and the copyright statements on student images allowing for re-use for wikiusers.
--Z3389806 07:34, 26 September 2011 (EST)
Group 5 Critique
- • Introduction should not contain clinical manifestations. It should introduce the topic as a whole. This section needs to be re-written
- • The history section is ok. The timeline could be explained a little better to give a clearer view of what the history of the disease is to the reader
- • Epidemiology should not contain the advantages and disadvantages of population testing. This should be another section in itself
- • Aetiology was fine
- • Development of the disease was ok
- • Signs and Symptoms was good
- • Diagnosis needs to be more detailed than what it is
- • Treatment and recent research is impressive
- • Glossary needs more terms added to it. It is too short, however that will be fixed when you add more explanations to the other sections and define the terms here.
--Robert Klein 18:57, 24 September 2011 (EST)
Fragile X Syndrome
- You need a bit more in your introduction. Introduce the basics before jumping straight into the methylation of specific genes etc. Try to describe what CGC triplet is, what methylation is, on what chromosome is FMR1 gene on? You need to spell some of this stuff out to begin with
- The table in 'History' looks good, there is a nice outline of dates there
- Nice diagram in 'Epidemiology', it's a really good illustration
- 'Etiology' can you do a brief explanation of what "amplification" implies
- There is a lot of good information in 'Signs and Symptoms', but it's lost in a block of text. It would be good if you broke it up with some images of clinical symptoms or something
- How do the diagnostic tests work? Why are they used? What are the benefits and diadvantages of them? This section needs to be filled out a bit
- Clearly a lot of work has gone into 'Treatment'
- 'Recent Research' is structured nicely, makes it a lot easier to read
- There's more than 8 words that require a definition
- There's clearly a lot of good information in the project, but there is a lot of detail and it needs to be broken up a bit. Though, overall it is not a bad project
- I liked your page as it had a simple and easy-to-follow lay out
- Some of the images could have been made larger on your actual page just so that it adds dynamics to your page
- I was left wanting to know more about the diagnosis, this section was quite brief
- I personally found your treatment table hard to read because there was so much information. Personally I believe that maybe dot-point form could have been used to get your main points across.
- Perhaps expand upon your glossary as there were some words that weren’t in there that maybe should have been.
--z3332629 15:25, 22 September 2011 (EST)
Group 5 Assessment
- The Fragile X Chromosme. Jpg needs both an explanation and referencing.
- There is no referencing in the Introduction section. Where did you get this information from?
- History- Good idea to setup using a chart to organize the data. First time I’ve seen that.
- Fragile X Inheritance jpg looks great!!! Way to incorporate the data into a figure. However, it does still need citing.
- Not all the information in the Screening/Test Population is cited. Where is this information referenced from?
- The Development of Disease portion could use a figure or two to make it more appeasing to look at.
- Some of the information under Signs and Symptoms is also not cited. Where was this information drawn from?
- Good chart under the treatment section. However, maybe try a bullet list on the right hand column to help set the ideas apart from each other?
- The glossary link seems a little short… Are you sure there aren’t any more words which would be helpful to define for the audience?
- For the references given throughout the wiki, there isn’t any consistency in how the [#] is given. The [#] is sometimes right after the sentence, sometimes a space is given between the sentence and citation number, and the end of the sentence (period or comma) is sometimes before or after the reference #...
- Some of the references are repetitive. Make sure to fix this so they all link to a single reference instead of numerous ones of the same resource.
- Overall, good work! Just work on the referencing and some of the visual aspects.
--Z3391078 15:09, 27 September 2011 (EST)
- Straight into it hey- a little bit more of an “introduction” might help sorry. The first line kind of scared me. Yes it is relevant information but I think you need to almost ‘warm the reader up’ if you know what I mean. When reading anything I don’t think jumping straight into the nuts and bolts of how it works benefits anyone. I think you should start with what it is and why it is important that the reader learns about your topic
- The history section is brief and I don’t actually understand the relevance of the discoveries. While putting the information in a table shows that you know how to format it to look pretty, it is not the most effective way of showing
- Your hand drawn images still need to be referenced and copyright put on them
- Reading through I am overwhelmed by the content. This may be due to a lack of proper introduction or early explanation. I feel like the information isn’t as accessible as it could be
- Development of the disease would work well in a table I think
- Maybe put the clinical manifestations into dot points? I just feel like everything is a bulk of text and it would be better if you broke it up a little
- An image in diagnosis would help
- Treatment works well in a table
- Glossary could be extended
- You are on the right tract it is just a very heavy project. The content is all there but I found it really hard to get through.
- Great structure with headings and subheadings, very easy to follow and read.
- Nice succinct intro. good over view of the disease. - Maybe you could dot point phenotypic abnormalities
- Some areas a little text heavy, additional pictures would fix this problem. for example some more pictures in signs and symptoms.
- Good simple history, well researched. easy to follow.
- Maybe Screening/Population testing could be its own heading.
- Great section on development of disease! I like the format very interesting relevant information! well done!
- Treatment section well put together but a little text heavy- try condensing info or bullet points.
- Make sure all the pictures are referenced properly.
- Nice to see your references grouped.
- NIce student drawn picture.
- Make sure all your acronyms/ scientific lingo is in the glossary.
- I liked that you has a continuous colour scheme for your tables. It makes your page look very neat.
- The bottom of the page is a little text heavy.
- Introduction: Concise and to the point.
- History: 1977... revise this sentence, I don't quite understand it. Generally, the explanations about the different discoveries could be longer and explain more how this lead to progress with regards to FXS.
- Epidemiology: All of the sudden you talk about "other populations" - which was the population you were initially referring to? Also, when you bullet-point the studies about the different populations, it would be good including a reference to each study.
- Screening/Population testing: Looks fine.
- Etiology: Generally well explained, though your last paragraph remains rather technical. You also sometimes use very long sentences - try to break those down, that'll make it easier to follow the argument. None of your terms seem to be explained in the glossary, and I doubt that anyone who hasn't done somewhat advanced genetics will understand the stuff relating to the RICS complex, the dicer enzyme and mRNA and miRNA regulation. Otherwise, nice depth and detail.
- Development: Well explained, good use of subheadings.
- Signs and Symptoms: Also well explained, good use of subheadings.
- Diagnosis: Too short. What about non-genetic diagnosis?
- Treatment: You jump in with mGluR5 treatment without having previously mentioned that this is affected by the syndrome. Mention it somewhere earlier, so it makes more sense that it needs to be treated?
- Recent Research: The autism related bit is well explained, but is there no current research looking at other aspects of the disease?
- Glossary: Too short, more terms need to be explained.
- References: The links probably need fixing. Also, a few articles seem to appear a couple of times in the list, but in general it looks fine.
- General: I feel like you mainly focus on the behavioural/cognitive aspects of the disease. Is there nothing more physiologicall to it? Otherwise, well organised, but maybe include a few more figures, as most of the page appears to be text?
Group Project 5
- The introduction was too in detail and did not seem like an introduction. Also there are no references ?
- the history is easy to read
- Etiology - very nice section of information
- Development of the Disease - was a good idea to put this in and the information is easy to read, maybe include some hyperlinks to the glossary?
- The treatment table is quite informative and easy to read due to its structure and quite appealing to the eyes
- More should be added to the glossary
--z3330313 20:02, 28 September 2011 (EST)
Peer Assessment: Group Project 5
- The introduction has no references.
- More pictures in the sections on development, signs and symptoms and diagnosis would help to make the written work easier to follow. Examples of pictures that could be added are images of neural crest development put in the development section or images of diagnostic techniques in the section on diagnosis.
- The section on treatment is clear and informative.
- The different diagnostic procedures could be explained more, such as how they are each conducted.
- Instead of having the uncommon words highlighted in bold, maybe you could link the words to their definition down in the glossary section.
- Some of the references are duplicated. They can instead be linked together using the 'multiple instances on a page' editing guidelines: http://embryology.med.unsw.edu.au/embryology/index.php?title=References#Multiple_Instances_on_Page.
- In conclusion, this project is both accessible to people who have no great scientific knowledge, but also delves into quite specific knowledge. A good balance.
--z3217345 21:59, 27 September 2011 (EST)
- the layout was not well structured
- was able to understand the disorder
--z3060621 21:31, 28 September 2011 (EST)
--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.
Please note the Universities Policy regarding Plagiarism
In particular this example:
- "Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"
Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip
Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, et al. (2010) Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype. PLoS ONE 5(3): e9476. doi:10.1371/journal.pone.0009476
Nice work Sandra! I will keep looking and i see you changed your table to pink too haha --Tara Lofthouse 20:54, 18 September 2011 (EST)
Hey guys, i have just edited our group page and put up 3 pictures! Please try to find more before Monday (especially under development of the disease and signs and symptoms as these parts are so dense with writing and thus need pictures to break it up a little bit)! Cheers, --Sandra Issa 00:24, 18 September 2011 (EST)
|Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD)||The prevalence of ADHD symptoms in individuals with FXS is much higher than that of other individuals with either genetic conditions or non-specific intellectual disability. Stimulants have been shown to improve ADHD symptoms in FXS patients. These drugs are distributed in addition to individualized therapies and behavioural intervention.
Some associated problems of using stimulants when treating symptoms of ADHD in younger children (such as 5 years of age and under) is that they may induce irritability and other behavioural problems. In this case, administration of non-stimulant medications may be more beneficial. Such alternative medications include adrenergic receptor agonists, such as clonidine and guanfacine. Clonidine has shown to be helpful for children with ADHD who have sleep disturbances (a asymptom often present in FXS patients). Guanfacine can also improve ADHD symptoms, such as “including hyperactivity and frustration intolerance, as well as hyperarousal.”
|Treatment of Mood Instability and Aggression||Antipsychotic drugs, such as Risperidone and Aripiprazole, are proven to be helpful in treating mood instability, aggression, perseverative behaviours and irritability in patients with FXS.
Risperidone was the most popular and clinically effective antipsychotic drug in the past for treatment of aggression and mood instability in patients of FXS. “The typical risperidone dose range for children with FXS is 1 to 2.5 mg/day.” Aripiprazole was the second most popular atypical antipsychotic agent for targeting multiple behaviour difficulties in patients with FXS. “Typically, low doses of aripiprazole (2.5–5.0 mg for adolescents and even lower doses for younger children) work best for patients with FXS.”
Hey guys, yep i will be there at 10 count me in! --z3290808 09:42, 15 September 2011 (EST)
It looks like it is going to be late nights all round. We should try and pump out an intro in that time tomorrow as well as at least one image? --Tara Lofthouse 18:52, 14 September 2011 (EST)
Okay, Tomorrow at 10am it is. I'll finish my stuff off tonight (it looks like being a late night :P). I'm assuming that it doesn't have to be perfect by tomorrow. It just needs to look alright, so that people can give us feedback before we finish it, yeah? Also, Boris, Interview is on the 27th. I was just visiting a friend. I'll tell you how it goes though, when it does happen. --Ziggy Harrison-Tikisci 17:43, 14 September 2011 (EST)
I can make it at 10am on Thursday as well --Tara Lofthouse 12:08, 14 September 2011 (EST)
Ooo, interview? How'd it go? I don't have time to meet up today (Wednesday), but I can see you guys in the lab at 10 tomorrow, before the class. --Boris Zolotarev 10:39, 14 September 2011 (EST)--Boris Zolotarev 10:39, 14 September 2011 (EST)
Hey Guys, Sorry I've been in Melbourne for the week, so haven't done any work. Getting on it now. Going to do all my referencing, editing etc. Wanted to ask if there is a time when we can get together, go through it all and make it pretty. Did we just want to do this before our lab on thursday, or if you guys have some time on wednesday afternoon? Furthermore, how harsh is the criticism/feedback? Doesn't mince his words, does he? --Ziggy Harrison-Tikisci 12:51, 12 September 2011 (EST)
Hey Boris yes i am experiencing the same problem. I cannot see the references and the reference list looks like a bunch of arrows facing superiorly. I got a bit worried but then checked the other groups and they had the same issue. I'm not sure what we can do? Let me know. ---Sandra Issa 09:49, 9 September 2011 (EST)
WHAT HAPPENED TO OUR REFERENCES. Can you guys do me a favour and tell me if you can see them? I was trying to put in an image just then and when I did the save it came up with references wiped. I tried undoing my last edit to no avail. There are still 30 something references, there's just nothing IN them. When I finished my word edit earlier today I actually saved the ENTIRE script as a word document; when I tried to rewrite EVERYTHING with that same (working) script it still came up with stuffed up references.
Let me know if you guys see the same problem. If you do, I'll have to get in contact with Mark Hill to fix the script. --Boris Zolotarev 23:31, 8 September 2011 (EST)
I hate how the times shown on the editing thing are totally out of whack....can I post anything up at the moment? >< --Boris Zolotarev 23:27, 7 September 2011 (EST)
Hey guys, i have just added the diagnosis part of our page and have also finished the treatment. Let me know if you think the treatment is too long? Or if you want to make any changes to the "Recent Research" part of our page.
Also, i will add in more references for this part very soon. I have put in a general reference (review article) but will make sure i include all references used very soon.
Have a good night, --Sandra Issa 21:16, 7 September 2011 (EST)
Suggestion: rename Development of disease to Progression of disease. Also, I should have a heap up later tonight, I'm compiling it all in a separate document at the moment.
--Boris Zolotarev 15:39, 7 September 2011 (EST)
Hey guys, just letting you know that i have found a great article which addresses many current 'treatments' for FXS. Also, i have found another article which summarises the current methods of diagnosing FXS. I will add this information (what i think is most relevant from the articles) onto our group page under the headings "treatment" and "diagnosis" very soon. Please feel free to add in anything that you believe i have not addressed under these headings. Also, i will try to edit our page as a whole soon so that it looks more uniform in appearance. Over the next couple of days we should all read each of the sections and try to add in additional information that someone else may have missed. Also, a reminder to keep an eye out for relevant pictures that have unrestricted access to add onto our page! Cheers, --Sandra Issa 12:32, 5 September 2011 (EST)
Hey, I'm doing a whole bunch now. I'll properly reference it all later, but I'm getting a lot of it off the american National Institute of Health. They've got references for all of it. So when I have more time, I'll go through those references, add them, and edit the information. So, what I put on the group page will just be an overview. Also, you people should go to bed earlier :) http://www.nichd.nih.gov/publications/pubs/fragileX/sub6.cfm --z3290618 09:49, 1 September 2011 (EST)
z3290808: I don't know why it wouldn't let you save, i wasn't editing at that time. Try again and if it doesn't work maybe paste your work here with your references and one of us can put it onto the project page for you?
Boris: At least something is up :) My section needs a lot more editing and a lot more cross checking with other references as well.. Any progress is good progress at the moment --Tara Lofthouse 03:35, 1 September 2011 (EST)
Heya, I took a stab at my section but I'm a bit dead at the moment (points to timestamp). I'll try get some more done tomorrow between the lecture and lab.
On the plus side, I added another 6 or 7 references to our thingy ^^
--Boris Zolotarev 01:28, 1 September 2011 (EST)
Guys it's not letting me save what i have written onto the group page! Is anyone currently on and trying to edit at this same time? --z3290808 22:41, 31 August 2011 (EST)
Yo Boris, You do Etiology, I'll do signs and symptoms. We can work towards the middle. That leaves history and epidemiology to Tara and Recent research to Sandra. And then we can all refine it/make an intro. We can at least do that to start with. Also: can everyone contribute to the glossary. If you find any terms that people (eg. me) wont understand, please keep them.--Ziggy Harrison-Tikisci 10:10, 25 August 2011 (EST)
The only reason why we need to put our names down now is to satisfy the weekly individual assessment but of course we can change things. Just put your name down for epidemiology or whatever was left over and we'll discuss it tomorrow. Maybe if we could get to the lab 10-15min earlier because we never get enough time at the end of the lab?
--Tara Lofthouse 19:50, 24 August 2011 (EST)
Just skimmed through this (damn I left it late >< ), should I nominate something now or should we discuss it tomorrow? Also, what do you guys think of having some sort of realtime chat method? Facebook or something of the sort... --Boris Zolotarev 19:17, 24 August 2011 (EST)
Yeah i know but the ones i put my name down for are really not that lengthy. We definitely need to have a chat tomorrow. --Tara Lofthouse 17:45, 24 August 2011 (EST)
Hey guys, you haven't left much for Boris and i to do lol .. I don't mind doing the recent research part - focussing on autism and fragile x.. but then i don't know what Boris would do? I will sign my name for now but i think we will have to change it around a little to better make the work load equally spread.
Cheers, --Sandra Issa 16:17, 24 August 2011 (EST)
I've taken it all on board and changed it. I'm fine for you to do whatever you want but doing both the genetic component and the signs and symptoms might be a lot of work. As long as everything is spread evenly i don't mind :)
--Tara Lofthouse 16:35, 23 August 2011 (EST)
Hey, I was wondering if anyone minds if I do 'Genetic contribution'. Also, is it okay if I follow the timeline of the disease? I will start with the chromosome, saying what the defect causes at a molecular level, and then when it first presents, and how it affects the development etc up until how it presents in the adult. Which means I'd probably do "Signs and symptoms (clinical Presentation)" as well. ALSO, we need to do a brief history of the disorder. So, below I've just tweaked the layout Tara and Sandra put up: let me know what you think
- History of Disease
- Genetic contribution
- Development of Disease
- Fetal Development
- At birth
- In Adult
- Signs and symptoms
- Recent research
- Fragile X and Autism
--z3290618 15:18, 23 August 2011 (EST)
Yeah, i think it makes sense how you've got it Sandra. However like Boris said maybe instead of having the heading "Autism and Fragile X Syndrome" maybe we could have recent research/current studies or something along those lines and include it there along with diagnosis and treatment? Do you think that etiology is too similar to genetic contribution?
ALSO!!! What headings would you like to research? I set up a "Who's doing what?" heading on this page to sign your name next to.
--Tara Lofthouse 12:39, 23 August 2011 (EST)
Hey guys, i have come up with a couple of headings that we can use:
- Introduction (short summary)
- Signs and Symptoms (Clinical Presentation)
- Genetic Contribution
- Autism and Fragile X syndrome
Tara i also like the format that you have included below.. i basically have made something similar but in different order based on what i think should come first perhaps? The ones with a question mark beside them are ones that i am unsure if we should include or not. Let me know what you think! Cheers, --Sandra Issa 12:03, 23 August 2011 (EST)
Hahaha of course it's your place to say so.. good suggestion, i'll fix it up now and if we want to change it again than that's no problem. I just thought i'd put something up to get started and we can go from there. What i've done is no where near completed. --Tara Lofthouse 18:52, 22 August 2011 (EST)
(I know it's not my place to say so before I've submitted my own suggestion but) I think I'd put "Autism and Fragile X Syndrome" within the "recent research" subtopic. I'll put up a suggestion by tomorrow evening, if not earlier. --Boris Zolotarev 09:27, 22 August 2011 (EST)
Hello everyone, what do you think about using the following headings for our project? Are there ones that you think we could omit or ones that you would like to add? We also need to decide on who is doing what.
- Signs and symptoms
- Recent research
- Autism and Fragile X Syndrome
--Tara Lofthouse 16:26, 21 August 2011 (EST)
Here's another interesting topic.
Congenital Hypomyelinating Neuropathy
What do you guys think you of this topic Congenital Hypomyelinating Neuropathy?
There are quite a few articles on it:
Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination.
Analysis of congenital hypomyelinating Egr2 Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.
P0 Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves.
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation.
A lot of them overlap with their findings and the focus of their studies, so it seems to be a pretty thorough topic.
--Boris Zolotarev 21:03, 7 August 2011 (EST)
I’m all for doing Congenital Hypomyelinating Neuropathy as our topic.
Here are some articles I have found:
- Describes the engineering and characterisation of a mouse carrying the I268N mutation in Egr2.
- The proper formation of myelin by Schwann cells requires a series of transcription factors including SOX10, SCIP/Oct6, Egr2, and Nab1/Nab2.
- A loss of these transcription factors disrupts the myelination process, as does persistent overexpression.
- This was observed in patients with recessively inherited Charcot–Marie–Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins.
- Charcot–Marie–Tooth disease (CMT) is a common inherited disorder of peripheral nerves characterized by progressive sensory loss and weakness beginning in the feet and legs, and later progressing to the hands
- Mice homozygous for Egr2I268N developed a congenital hypomyelinating neuropathy similar to human counterparts.
- Egr2I268N is expressed at normal levels in developing nerve but is unable to interact with Nab proteins or to properly activate transcription of target genes critical for proper peripheral myelin development.
- Egr2I268N/I268N mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days. Nerve electrophysiology revealed conduction block, and neuromuscular junctions showed marked
- Describes the symptoms of two patients with congenital hypomyelinating neuropathy
- Hypotonia = low muscle tone (amount of tension or resistance to movement in a muscle)
- Areflexia = absence of neurologic reflexes such as the knee jerk
- Distal muscle weakness
- Atrophy = wasting of a part of the body
- Exceedingly slow nerve conduction velocities
- Usually leading to early death or severe disability.
- It contains great images of the histology of the condition as well as the actual patients
- It contains a detailed recount of sural nerve biopsies of the patients
- It compares the symptoms of congenital hypomyelinating neuropathy in Trembler mice as they are very similar to human symptoms
- Review of previously reported cases of congenital hypomyelinating neuropathy (CHN) aswell as two unrelated females with CHN
- The first patient is now 9 years old and has showed continual improvement of motor function even though her follow up nerve conduction velocities remained unchanged
- The second patient is now 5 years old and has also showed continual motor function improvement since her first visit even though her follow up nerve conduction velocities also remained unchanged
--Tara Lofthouse 12:22, 9 August 2011 (EST)
Fragile X Syndrome
Hey guys, I had a look at Congenital Hypomyelinating Neuropathy and to be honest i did not find it very appealing. I found the disorder "Fragile X Syndrome" to be very interesting! Can you guys please check out the following link on Fragile X Syndrome and let me know if the disease also interests you!? I found the information on it is quite extensive and the disease is well known. If you do not want to base our project on this syndrome, i am sure we can decide on one we can all enjoy studying! :)
Here are some interesting articles that i have found on Fragile X Syndrome:
- Review Article: Fragile X syndrome: from gene discovery to therapy 
- This review focuses on the molecular and biochemical pathways shown to be relevant in the Fragile X Syndrome. It describes that a mutation in the FMR-1 gene was found to lead to Fragile X Syndrome due to excessive repeats of the trinucleotide sequence CGG which is known to inactivate the FMR-1 gene, making the X chromosome fragile and prone to breakage. This review article also demonstrates the many vital functions of the FMR-1 gene such as its role in RNA transport and stability, thus absence of the protein transcribed and translated from this gene is thought to affect brain development and thus leads to signs of mental retardation.
- Research Article: DNA methylation represses FMR-1 transcription in fragile X syndrome 
- This research article explores the two molecular differences of the FMR-1 gene in normal individuals vs. those with Fragile X Syndrome. These differences are an increase in size of an FMR-1 exon containing a CGG repeat and abnormal methylation of a CpG island 250 bp proximal to this repeat. This research article also shows how these two abnormalities repress transcription of the FMR-1 gene, leading to the absence of the FMR-1 protein which is thought to be the contributing factor to the Fragile X phenotype.
--Sandra Issa 19:53, 9 August 2011 (EST)
Here are some articles I have found for Fragile X syndrome:
Research Article: The state of synapses in Fragile X Syndrome 
- Fragile X Syndrome is the most common inherited form of mental retardation and a leading genetic cause of autism.
- Evidence that suggests alterations in synapse number, structure and function are associated and contribute to both Fragile X Sydrome and autism.
- Fraile X Syndrome is caused by loss of function of the Fmr1 gene which encodes the RNA binding protein, FMRP (FMRP is present at synapses where it associates with mRNA and polyribosomes).
- FMRP is also has a role in synapse development, elimination and plasticity.
- An understanding of the molecular and synaptic function of FMRP, as well as the consequences of its loss, has led to the early developments of therapeutic strategies for Fragile X Syndrome.
Research Article: Fragile x syndrome: history, diagnosis, and treatment. 
Review Article: Systematic review of pharmacological treatments in fragile X syndrome 
Review Article: FMR1 and the fragile X syndrome: human genome epidemiology review 
--Tara Lofthouse 14:37, 16 August 2011 (EST)
File:FMR4 is silenced in fragile X syndrome
--Sandra Issa 10:20, 14 August 2011 (EST)
--Tara Lofthouse 13:49, 17 August 2011 (EST)
Like? File: Fragile site appearance and distribution --Ziggy Harrison-Tikisci 08:55, 18 August 2011 (EST)
File: FXR1 and FXR2 crystal structures
--Boris Zolotarev 11:00, 18 August 2011 (EST)
Who's doing what?
- Introduction = DO AT THE END!!!!
- History of Disease = Tara
- Epidemiology = Tara
- Etiology = Boris
- Signs and symptoms = Ziggy
- Physical phenotype
- Social interaction
- Intellectual development
- Recent research = Sandra
- Fragile X and Autism
Just leaving this here for the next hour, so that I don't have to retype it all (can't get wifi in the embryo lab).
The hallmark of the fragile X syndrome is mental retardation, which was noted as early as 1943 in a report of a large family with 11 mentally retarded males and two mildly retarded females. 64 The clinical phenotype associated with the syndrome has since been widened to include a variety of cognitive, physical, and behavioral characteristics (reviewed in Mazzocco). 65 Almost all males with the full mutation exhibit some clinical features of the fragile X syndrome. Also, most affected males do not reproduce, presumably due to the severity of mental retardation. With regard to cognitive function, affected males often exhibit developmental delay very early in childhood. By the age of 3 years, most males will test in the mentally retarded range. 66 Ultimately, almost all males with the fragile X syndrome are mentally retarded, with severity ranging from profound (IQ <20) to mild mental retardation (IQ 50–70), with most being moderately retarded (IQ 40–54) (reviewed in Hagerman). 67 Physically, adult males often have a long narrow face, prominent ears, a prominent jaw, and macroorchidism (reviewed in Hagerman). 67 Other common physical features include a high arched palate, hyperextensible finger joints, double jointed thumbs, single palmar crease, hand calluses, velvet-like skin, flat feet, and mitral valve prolapse (reviewed in Warren and Sherman). 8 Males with the fragile X syndrome also tend to exhibit behavioral features such as hyperactivity, social anxiety, perseverative speech and language, tactile defensiveness, stereotypies (e.g., hand-flapping), and hand biting (reviewed in Hagerman). 67 Autistic-like behavior is also described in these males, with as many as 25% of males with the fragile X syndrome meeting the diagnostic criteria for autism. 68 The association of fragile X with autism, however, is not clear because the proportion of males with the fragile X syndrome meeting the diagnostic criteria for autism seems to diminish with age. 68
Physical phenotype Before puberty, children with Fragile-X tend to have no discernable differences in physical appearance. They may have a broad forehead or a slightly larger size head. At puberty, these children begin to develop the physical signs recognized with Fragile-X, such as longer faces, larger jaws and ears. Furthermore, they tend to have impaired growth, and will not achieve a height that one might expect (based on familial relations, or population averages). Males may also develop macro-orchidism: enlargement of the testicles. Fragile-X patients may also have loose connective-tissues, allowing their joints to be more flexible that normal. This may cause complications arising from increased risk of hernia as well as problems associated with other connective tissues such as: heart-valve weaknesses resulting in murmur. Later in life, these men may develop a tremor and experience difficulty walking.
Social interaction Children with Fragile-X tend to experience social anxiety, feeling awkward and uncomfortable in new environments and situations. Often, they may avoid social interactions, due to the anxiety, and tend not to seek contact with others. Their anxiety often manifests itself as discontinuous speech and a lack of eye contact.
Results indicate that compared to the control group, individuals with FXS exhibited decreased activation of prefrontal regions associated with complex social cognition, including the medial and superior frontal cortex, during successful face encoding. Further, the FXS and control groups showed significantly different relationships between measures of social anxiety (including gaze-fixation) and brain activity during face encoding. These data indicate that social anxiety in FXS may be related to the inability to successfully recruit higher level social cognition regions during the initial phases of memory formation. Reference: Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome.
Intellectual development As a generalisation, the majority of Fragile-X patients have an IQ between 1 and 2 standard deviations below the population mean. This equates to around 40-85. Few Patients lie out-side this range, with approximately 20% within the ‘normal’ range (85-115) and less below 40. Females however, show lower impairment, with only one-third having IQs within the ‘mental retardation’ range. Generally, Fragile-X patients have trouble with forming abstract ideas, planning and problem solving. Conversely, they tend to have a good memory for pictures and visual patterns, and may be better adept at following instructions if presented in picture format. Compared to their unaffected siblings, children with FXS obtained significantly lower percentage correct scores on all subtests of the WISC at both time points. During the time between the first and second assessments, the annual rate of intellectual development was approximately 2.2 times faster in the unaffected children compared to the children with FXS. Levels of the fragile X mental retardation protein (FMRP) were highly associated with intellectual ability scores of the children with FXS at both time points.
Studies of intellectual function in FXS often demonstrate a mean IQ decline of 4 to 9 standardized points over intervals ranging from several months to 13 years. Reference: Longitudinal Changes in Intellectual Development in Children with Fragile X Syndrome
Working Memory First, when individuals affected by the premutation are examined as a group, they exhibit a weakness only for tasks that reflect functioning of the central executive subcomponent of working memory.
Second, when both permutation sub-groups are examined together, the extent of the central executive deficit is significantly correlated with larger CGG repeat expansions.
For permutation males who are asymptomatic, mild executive dysregulation, inhibitory deficits that worsen with age, and declarative verbal learning and memory are notable.
The detection of a deficit in the central executive component of working memory in the fourth decade of life that progressively deteriorates with age suggests a cumulative process that may be a cognitive correlate to the underlying degenerative process identified in premutation males.
The significant correlation between CGG repeat length and central executive working memory in asymptomatic carrier males suggests greater neuropathology in carrier males with larger expansions in FMR1 mRNA transcripts. Reference: Lifespan changes in working memory in fragile X premutation males
Emotional characteristics Fragile-X children often are easily upset or overwhelmed. New situations can easily frighten them. Upon entering an unfamiliar situation, some tend to cry, whilst others may become tense. These may often lead to tantrums or repetitive tics. During puberty and teen years, hormone levels may exaggerate this, making the tantrums more violent and the patients largely more aggressive. Furthermore, the usual anxiety experienced with difficult tasks may take longer to abate, meaning the patient may take longer to calm-down.
Language and Speech Often these children have problems with coherence, word pronunciation and correct grammar use. This impairs their ability to properly communicate meaning. More serious speech problems are associated with vocal processing, such as: moderating tone, pitch or loudness as well as coordinating the movements needed to vocalize sounds. Furthermore, they may have difficulties processing spoken information and, as shown above, will be better at following instructions if presented in picture format. These children may stutter, omit sounds out of their words, repeat themselves, or restart the same sentence many times. They may also speak fast and/or mumble. It is important to note, that some of their disability to communicate can be attributed to the shyness and social anxiety, while specific deficits may be due to sensory overload, rather than specific neural problems with control of speech and language.