Talk:2011 Group Project 9

Group 9: User:z3331469 | User:z3331556 | User:z3332178 | User:z3332183

Plagiarism

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In particular this example:

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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

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Peer Review

Group 9

• You don’t have a very good image/text ratio. More images are needed to break up the text.
• Good information in your introduction although you need an image
• Maybe try and condense your history just into a timeline?
• Genetic factors and etiology and diagnosis are good and have a nice flow
• I think the section epidemiology should closer to the beginning of your project- also not sure why management and treatment are mentioned here.
• Phenotypes should be organised better
• Good table for associated medical conditions
• A few of your headings should be reformatted
• Specialised facilities and supportive associations seems a little unnecessary
• Glossary is incomplete

Group 9

• Introduction: contend is fine

• History: could be a bit shortened, otherwise good

• Genetic and Etiology: well done

• Diagnosis: looks good

• Epidemiology: treatment doesn’t belong there (own section?), the contend is good

• Phenotype: references missing

• Cardiac conditions: well done, but what’s with other conditions?

• Genitourinary Conditions: the contend is good, but the structure could be clearer, a table for the grading system would be nice

• Endocrine: missing references, otherwise good section

• Other associated conditions: looks fine

• Cognitive, behavioural Phenotype: references missing?

• Structural diff. in the brain: is there really only one resource? Lack of structure and subheadings

• Special Facilities: I don’t think it is necessary to list the addresses of the foundations, and write down all their aims. The online link is enough.

• Research: could have more detailed information

• Glossary: incomplete

• The phenotype sections should be put together

--Z3387190 23:20, 27 September 2011 (EST)

Comments on Group Project 9

Strengths:

• Good use of subheadings. It gives the page a structured feel to it.
• For most part of the references, it is good with the initiative to prevent duplication of references.
• I really like the “Specialised Facilities and Supportive Associations” section. Parents who just found out about their child’s condition would probably want to know more and seek help and this would be good for them.

Weaknesses:

• The history section looks really overwhelming.
• The glossary section is poorly done, with missing definitions for some words. There are other words that should be included in the glossary but was not.
• The image of the typical facial feature of an individual with WS looks similar to the one shown during lecture by Dr Palmer. It would be good to acknowledge what the image drawn was based on.

Specific corrections:

• It will be good to include an image in either the introduction or history section. At least it will be able to grab some attention.
• Reference 23 is missing its source.
• It will be good to elaborate more on some of the research studies being done to give the readers a feel of the direction in which the research for Williams Syn is gearing towards.

--Z3389806 06:45, 27 September 2011 (EST)

Group 9 Peer Assessment

• Introduction has clear explanation of the topic though image would liven the section up
• History is very informative though have no images, image of the founder would suit this area. While the time line done properly and looks good but bullet points would make look better
• Genetic factors should incorporate the image used “fig 2”, although the use of the table is well made explaining the cases of genetic transmission.
• Diagnosis introduction done well though image “fig 3” not mentioned in the text which should also be integrated into the text.
• Epidemiology should be first before the diagnosis and treatment would be better as its own heading and below near the end.
• Headings needs to be more organised and some more images which are linked to the text otherwise very bulky with text
• Current research/ future research done well and separated with sub headings
• Glossary need to be expanded as most terms not understood without a dictionary
• Reference 23 and 2 needs to be fixed otherwise all done well

z3332250 23:57, 26 September 2011 (EST)

Group 9 Critique

1. • Introduction is ok. Maybe add a picture or two to make the introduction look a little bit more interesting
2. • History is pretty good. Nice work on the timeline!
3. • The table in the section on genetic factors is appropriate. Good job!
4. • Diagnosis is good
5. • Epidemiology should be after introduction, not diagnosis, but otherwise ok
6. • The overall project is quite good, however diagnosis should be at the end and not one of the first sections
7. • Also, is it necessary to put in information about support groups? Something to think about
8. • Glossary is unfinished
9. • The current research and developments section should have more information in it. Two lines of information is not enough detail

--Robert Klein 16:16, 26 September 2011 (EST)

Peer Assessment Group 9 Williams-Beuren Syndrome

• The introduction could use a simple image of the chromosome 7q11.23 just to make the introduction look a bit more interesting
• History is too detailed and in a few instances a repetition of the timeline
• An image in the timeline section will make it a bit more interesting
• The section 'Genetic factors and Etiology' is a great balance of image, table and text. Interesting information presented simply and clearly
• Interesting image of the deleted gene location
• Under Epidemiology you could also talk about prevalence of the condition in certain regions of the world etc. It looks like a one sentence section.
• The management section looks like it is part of epidemiology. You might want to reformat this to make it look like it is a topic by itself.
• Too many one sentence paragraphs under 'Treatment'. It might be a good idea to organise the thoughts and bunch them into small paragraphs. Half a line in a paragraph doesn't look great, surely these single lines can relate to another paragraph.
• The heading 'other problems' don't sound descriptive enough, you might want to call it, 'Associated Abnormalities'.
• Please add 'Genitourinary Conditions' in addition to a heap of other unexplained terms in the glossary
• I like the addition of Figure 6. It is an interesting observation.
• The addition of support groups in Australia and other places is a useful section.
• Overall the page has been well researched, just find a balance between texts, images and tables and it will be an informative page to refer back to.

Williams-Beuren Syndrome

• 'Introduction' is good, but need an image to open up the page
• Can you try to compile all that text in 'History' into the timeline? Otherwise it's a bit much and a bit repetitive; an image couldn't hurt either
• Good work with 'Genetics', easy to read and interesting
• Diagnosis might fit better below the signs and symptoms, ie after we know enough about the syndrome to fully appreciate the diagnosis
• 'Treatment' doesn't really fit in 'Epidemiology', again this would be better towards the end of the page
• Nice table for 'Phenotype of Williams Syndrome', very clear and informative
• Your subtitles are a little confusing, you might want to try incorporating all the condions ie cardiac and genitinary into one section
• Though the information within these sections is very good
• You seem to be missing a lot of images, it's difficult to read when it's just blocks of text
• For 'Cognitive, Behavioural and Neurological Phenotype' you need more references. You should back up what your saying with at least 2 references; though there seems to be a lot of interesting information here
• 'Structural Differences in Brain' - only 1 reference for all that information? That doesn't seem very reliable
• I like the topic 'Specialised Facilities and Supportive Associations', really interesting choice. Very good
• For 'Current Research', instead of just an article reference, make a brief summary of the paper and describe why it is significant? Otherwise this section is a bit pointless.
• The glossary can't hurt to be expanded..... and finished.
• Overall, the page looks good, clearly a lot of research has gone into it. Just focus on making it more visually appealing, and work on those references

Group 9-

• Glossary is incomplete
• There are very few images on the page to break up the text
• Introduction needs an image. Other than that the information is good
• History- not sure if you need the text AND the list of dates. Maybe you could combine it all into one
• Genetic factors and etiology- really good. Easy to understand and visually appealing
• Diagnosis is also easy to take in
• Epidemiology should be up the top before diagnosis
• Also you need to sort out your subheadings. Management and treatment are not part of epidemiology
• More information is needed on the actually epidemiology
• Phenotype should come before treatment so we know why the treatments are necessary
• Also- cardiac, endocrine and genitourinary conditions are part of the phenotype. Maybe consider including these in the table
• The whole phenotype section is confusing sorry. It is ALL phenotype but you have put it in different sections. Not really sure why you have done this. It needs to be formatted better.
• The information is all there it just isn’t organised properly
• Do you need this? ‘Specialised Facilities and Supportive Associations
• You have done a great job of researching and the information is all there its just really confusing sorry. You need to find a way of organizing it so that it is more accessible to the reader.

Group 9

• The structure and use of headings and subheadings is good but i think you need to rethink the order of your headings eg epidemiology should be closer to the beginning.
• Intro informative. maybe you could bullet point the phenotypic characteristics, just make it easier to read. could you add a picture in this section?
• Nice history, could you maybe put your timeline into a table.
• good use of the table in genetics and aetiology and nice to see the accompanying picture referenced.
• I feel treatment should be its own heading and not a subheading.
• Phenotype of Williams Syndrome- a nice easy to read section breaking up the text. Could you add anymore pictures here?
• Genitourinary Conditions is very text heavy could you add in some pictures here or tabulate some of the information, just to keep the page flowing nicely.
• The endocrine section should be renamed, as it does not really explain to the reader what your going to talk about.
• Other Associated Medical Conditions- is a nice section good use of the table.
• Cognitive, Behavioural and Neurological Phenotype section is very text heavy it needs to be broken up either by pictures or a table. but it seems like a lot of effort has been put into the research in this section.
• Im not sure whether this section is necessary for our assessment Specialised Facilities and Supportive Associations??
• Current research and developments should be above the preceding section and a summary of the information would be nice instead of dot points.

Group 9 Assessment

• Great job of linking the same resource to the same reference number in the reference section!
• The introduction and history are very thorough, but what’s missing are pictures to help it look more appealing.
• The timeline- the information it good, but it might look better in a table format.
• The genetic factors chart is good, but the last row doesn’t have any referencing…
• The diagnosis section definitely needs more referencing for all of the information.
• Epidemiology- This section could also really use some pictures to add to the section.
• The phenotype chart also needs all of the information referenced… It might also be helpful to have more pictures, at least one for each subgroup within the chart.
• The Genitourinary Conditions section is rather wordy… Pictures could definitely be helpful here as well as more bullet lists or possibly another chart to simplify the info.
• The complete list of problems and associated medical conditions is rather lengthy… It might be a good idea to simplify all of this information as much as possible and simply compile it ALL together into one chart….

*The whole “Cognitive, Behavioral and Neurological Phenotype” as well as the “Structural Differences in the Brain” sections definitely need more referencing.  

• Are support groups really necessary to be included for this project?
• Current research could also a picture or two.
• Not all the words are defined in the glossary, and it might look better if a bullet list were used here. Also, it would be nice to have the glossary words linked to the actual words in the wiki page for easy reference.
• Overall, not bad. Just work on fixing the overall flow and referencing and you will be fine!

--Z3391078 16:35, 27 September 2011 (EST)

Peer Assessment: Group Project 9

• The introduction and history of the disease are informative and it is good to have both the detailed historical information in addition to the timeline.
• It might be good to have an image at the beginning of the page to break up the text, such as of someone prominently involved with the disease findings (John C.P. Williams or Alois J Beuren).
• The diagnostic section only has one reference which detracts from the reliability of the section and makes the reader wonder where the information was sourced from. It is also good to place it in as if the reader desires to know more about the subject, they are able to look at where certain parts came from.
• The phenotype section is really clear and well formatted, however there are no references in this section.
• In general there needs to be more images/figures/graphs to help the ease of reading. For example in sections: Genitourinary Conditions, Other Associated Medical Conditions and Cognitive, Behavioural and Neurological Phenotype.
• The section on specialised facilities and supportive associations is an additional section that really adds to the page.
• There needs to be a picture drawn by a student.
• Some of the definitions of words in the glossary need to be completed.

--z3217345 10:16, 28 September 2011 (EST)

• Intro: More info about the syndrome itself needed. Add a picture if you can? The text alone is a bit dry.
• History: ... 1952 is really not early. I'd call it a rather new syndrome if that's when it was discovered..? Otherwise, lots of info and references, which is good.
• Genetic factors and Etiology: Looks good.
• Diagnosis: Seems fine.
• Epidemiology: Not sure it makes sense to have management and treatment under epidemiology? Content seems fine, though is very text-heavy, maybe find a figure to break it up?
• Phenotype: I like the table. Gives an easy overview.
• Cardiac Conditions: Good content. I assume the "other problems" section is still under construction?
• Genitourinary Conditions: Content seems fine, but it's very text heavy, this really needs to be broken up somehow. Possibly use a table, or include more figures.
• Endocrine: Endocrine what? Conditions? That title is a bit odd. Otherwise, looks good. How come the thyroid section doesn't have a reference?
• Other Associated Medical Conditions: Good content, I like the table.
• Cognitive, Behavioural and Neurological Phenotype: Very impressive amount of (really interesting) information, which however currently mainly consists of text. Some more figures will help break that down a bit. (Watch out with the spatial cognition part - the title is spelled correctly, but within the text it's all "spacial".) Otherwise, very well done!
• Structural Differences in the Brain: Not quite sure it makes sense to have this section here - put it before the cognitive phenotype section, instead after? Content is very good.
• Specialised Facilities and Supportive Associations: Interesting idea. Not quite sure it's needed cause I think we're supposed to focus on the science, but at the same time I don't see why not include it. Though your formatting makes it a very long section - I'd keep it more brief.
• Current research and developments: A little bit too brief. You could expand a little bit more on what is being done. The links are good, but maybe give a few more examples of recent papers and reviews.
• Glossary: Poor. MANY more terms need explanations.
• References: Looks fine in general, though the link might need fixing, and also one reference leads to emptiness?
• General: From the conditions sections onwards I'm not quite sure the sections and different titles you have chosen make sense, it seems a bit confusing. Maybe rethink that and try and come up with a more clear structure? Also, you need to make your structuring and how you split up a section into subsections more uniform.

Overall though, you cover an impressive spectrum of information. Well done!

Discussion

hahaha everyone is commenting on the lack of images. yes guys, we know but there are little to no copyright free images out there.

--z3331469 14:36, 27 September 2011 (EST)

Hey, i've got no problem with that, i think it's a fair idea

--z3331469 19:06, 18 September 2011 (EST)

Hey guys ive been thinking that epidemiology isn't really in the right spot.... management and treatment should really go after all the descriptions of the abnormalities and incidence shoukd go at the beginning... so what i'm thinking is that we should split up the subheading and add incidence to the intro and have management and treatment as one heading towards the end...??? what do u guys suggest?

--z3331556 23:20, 17 September 2011 (EST)

Hey guys i found this really good article that deals with embryology in WS!! but i don't know where the info fits in...can u please have a quick glance over it and see where you think some of the info can go??? i just don't wanna mess up your parts by adding random info...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629217/?tool=pubmed

--z3331556 17:36, 14 September 2011 (EST)

Yay!!! Yeah thats fine...were just gonna fix our ones up...coz we have another assignment to do tonight...so you n nobby can edit all u want tonight! Ohh and yeah sure...just post up the info you have for the timeline n then ill put it into a table!!

Hey, yeh no worries, im going to be working on it for the rest of the day now that my exams are over....i ll try get as much of it done ASAP. Oh and after i finish typing up the timeline, would one of u guys format it in a table for me??? i seriously tried to do it but I got a bit confused lol Oh btw great job on the drawings!!! :)

--z3331556 13:54, 14 September 2011 (EST)

Hey sister 1 can you work on cardiac? I'll do other associated instead of sister 3.

--Z3332178 10:42, 14 September 2011 (EST)

and also, i just came across this page which is on the unsw embryo page.... http://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:Williams_Syndrome#Australia_-_Support_Groups

it lists some recent papers and current research, including one of steve palmer's papers.

--z3331469 08:31, 14 September 2011 (EST)

hey guys, yes moving epidemiology up is a great idea!!!!

--z3331469 07:25, 14 September 2011 (EST)

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288273/ article for the visuospatial construction i.e. not able to draw house, bicycle etc, think this can be for our case studies...

yes i think that's a good idea, i was just about to mention that, shall i move it?? I fixed up a bit of the intro, is it ok? Btw I sware i thought i was on another page when i hit save cause all these tables and images came up, then i realised it was laticia and felicia's AWSOME WORK :), it looks really good!!! just thought i should mention that... I've spent hours trying to find images and most of the articles i've found have really good ones but we cant use them!! ahhh it's soo frustrating

--z3331556 23:58, 11 September 2011 (EST)

Also, in Marks feedback he said that epidemology should be linked earlier to diagnosis, so shall we just move it up and have it straight after diagnosis before the physical characteristics? --z3332183 23:14, 11 September 2011 (EST)

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129970/?tool=pubmed Hey guys...heres another open access article that we can use pics from!!!

--z3332183 22:48, 11 September 2011 (EST)

i think we can all use this article http://www.ncbi.nlm.nih.gov/books/NBK1249/ --z3331556 22:06, 11 September 2011 (EST)

http://www.nejm.org.wwwproxy0.library.unsw.edu.au/doi/full/10.1056/NEJMra0903074#t=article pretty good recent article :) but i don't know if we can use the pics, can someone double check...

--z3331556 21:46, 11 September 2011 (EST)

[1] Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

--z3332183 13:34, 7 September 2011 (EST)

Hey guys found this AWESOME article we can get pics off =D Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome PMID: 20808792 (forgot how to ref so this'll do for now)

--z3332178 22:51, 8 September 2011 (EST)

Hey! Yeah it think its better if they just go under the same heading because they go together and its impossible to separate them anyway...so yeah 'Genetic Factors and Etiology' should be fine...and we can add in any subheadings if we need em later... :D

--z3332183 19:54, 3 September 2011 (EST)

Hey guys i just changed the etiology, genetic factors/ cause headings, before we had genetic factors and etiology as separate headings with cause as a subheading below genetic factors and it didn't really make sense... so is it ok if we just have the heading 'Genetic Factors and Etiology'???

--z3331556 15:44, 3 September 2011 (EST)

Hey guys i just emailed Dr. Steve Palmer, will hope for a quick reply. Apparently he's taking the next lecture or something when we get back, but by then it will be too late, so it's best if we can arrange a meeting. Who wants to come with me to see him..........................................................................................=/

--z3331469 17:16, 1 September 2011 (EST)

Here's an article for diagnosis and management of the disease

[2]

Hey that's heaps good, we'll compare timetables tomorrow during the lab or something, this page is coming alongggggggggggg!

--z3331469 16:00, 31 August 2011 (EST)

Happy sister 1, you are awesome! I'll do Coronary artery stenosis, Pulmonary valve stenosis, Atrial septal defect, Ventricular septal defect if you didnt already start on any... I'm doin my williams research now so hopefully, i'll have my bit up tonight! *crosses fingers* I'm so sick of readin articles... =P Is there a time we can all go meet up with the WS proff?

--Z3332178 20:37, 30 August 2011 (EST)

Hey i found out who the researcher of WS at uni is, it's Dr Steve Palmer, here's his email s.palmer@unsw.edu.au, on the course outline it says that we have to make an appointment if we want to see him. We should try get together sometime this week or next week so we can go see him and ask about his current research???

--z3331556 18:51, 27 August 2011 (EST)

So i finally figured out how to reference on this thing, thought you guys might need help.... if you look on the main project page I've started to put some info up, so if you click on the edit button (on the side of each heading) the info and references come up, just copy and paste the ref name....blah blah part after your info BUT REPLACE THE PMID NUMBER WITH THE ONE YOU NEED FOR YOUR ARTICLE. When u save, the reference is automatically made in the reference heading at the bottom of the pages

Hope this makes sense lol

--z3331556 17:17, 27 August 2011 (EST)

Hey guys i've posted up some links to articles that may help in your research, they're on the reference list below. Oh and Felicia i think we should further split up the cardiovascular heading so we can research specific types and make them subheadings??? The OMIM clinical synopsis web page [3] has these as abnormalities associated with the heart:

Supravalvular aortic stenosis

Valvular aortic stenosis

Bicuspid aortic valve

Mitral valve prolapse

Mitral regurgitation

Coronary artery stenosis

Pulmonary valve stenosis

Atrial septal defect

Ventricular septal defect

which ones do you want to search???

--z3331556 15:22, 27 August 2011 (EST)

“The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment” by Colleen A. Morris The review article concludes that a person with William syndrome share distinct cognitive and behavioural features. The phenotype of a typical patient will be due to the deleted genes of chromosome 7 q11.23.[4]

“Impaired geometric reorientation caused by genetic defect” by Laura Lakusta, Banchiamlack Dessalegn, and Barbara Landau By testing participants in a plain or single blue walled chamber, the study was able to show that William syndrome patients show a failure to reconstruct and use geometric representations of the chamber o find hidden objecs.[5] --z3332178 22:42, 9 August 2011 (EST)

http://omim.org/entry/194050

Review Article: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. [6]

Research Article: Elevated Ambulatory Blood Pressure in 20 Subjects With Williams Syndrome[7]

--z3331469 21:35, 10 August 2011 (EST)

--z3331469 13:19, 4 August 2011 (EST)

The genomic basis of the Williams - Beuren syndrome C Schubert. Cellular and Molecular Life Sciences. Basel: Apr 2009. Vol. 66, Iss. 7; p. 1178 [8]

--Z3332183 13:28, 4 August 2011 (EST)

J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13. William's syndrome: gene expression is related to parental origin and regional coordinate control. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR. Source

Division of Neurogenetics, Cedars-Sinai Medical Center and Departments of Human Genetics and Pediatrics, UCLA, Los Angeles, CA, USA.

Abstract

William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24-28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

PMID:19282872[9] hey guys this is one of the articles i found but i've tried getting the whole article to read but sirius doesn't seem to have this particular volume

--z3331556 18:09, 6 August 2011 (EST)

Review Article:The genomic basis of the Williams – Beuren syndrome •Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment & overfriendliness.

•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome 7q11.23.

•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.

Reference: Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 [10]

Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome •In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.

•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome

•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.

•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.

Reference: Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 [11]

--z3332183 23:02, 9 August 2011 (EST)

ARTICLE

PLoS One. 2010 Apr 21;5(4):e10292. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR. Source

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.

Abstract Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

PMID:20422020 [12]

• Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)

• Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines

• STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.

• Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.

here's the actual article [13]

REVIEW ARTICLE

Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18. [Williams-Beuren syndrome: a multidisciplinary approach]. [Article in French] Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Source

Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France. agnes.lacroix@uhb.fr

Abstract Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

PMID:19097873 [14]

--z3331556 19:40, 10 August 2011 (EST)

Here's the image i showed you guys

--z3331556 12:23, 12 August 2011 (EST)

--z3331469 17:33, 16 August 2011 (EST)

The frequency of SD cells for RB1 and SNRPN in WS and control individuals.

--z3332178 23:22, 16 August 2011 (EST)

I've found a good case study for WS, maybe we could have a case study sub-heading?? [15]

--z3331556 13:38, 17 August 2011 (EST)

Suggestions for areas of research

I thought I could get the ball rolling, let me know if you want to add or remove anything.

INTRODUCTION

(z3331556) -What is William’s Syndrome?

History of the disease

(z3331556) -How it was discovered -Who discovered it? -Timeline of how knowledge developed

Etiology

(z3332183) - Cause - Susceptibility of the patient

Diagnosis

(z3332183) -How it’s detected (tests/examinations) -How soon it can be detected?

Genetic Factors

-deletions (all)

Physical Characteristics

-Facial characteristics etc. (z3332178)

Associated medical conditions

-Cardiac abnormalities (z3331556),(z3332178)

-Renal abnormalities (z3331469)

-other (hoarse voice, inguinal hernia, orthopaedic problems, hypercalcaemia etc.) (z3332183)

Cognitive, Behavioural and Neurological Problems

(z3332178)

Epidemiology

-Incidence, distribution, and control of disease (z3331469)

Management/treatment

-Treatment of individual symptoms, avoid taking increased levels of calcium and Vitamin D (z3331469)

Specialized Facilities/ supportive associations

-Williams Syndrome Foundation (UK), Williams Syndrome Association (all)

Case studies

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288273/

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862007/

Interesting facts

(all)

Current research and developments

(all)

References

http://www.cddh.monash.org/assets/williams-synd.pdf

--z3331556 18:09, 17 August 2011 (EST)

http://books.google.com.au/books?id=qvKaSNg0pUcC&pg=PA158&lpg=PA158&dq=Williams+and+Barrett-Boyes&source=bl&ots=0SIpaamHuh&sig=4ouDsgFvt8XBbuwKPThFGWX9b4Y&hl=en&ei=8F5MTurlGuuNmQWA6eCyAg&sa=X&oi=book_result&ct=result&resnum=7&ved=0CEMQ6AEwBg#v=onepage&q=Williams%20and%20Barrett-Boyes&f=false

--z3331556 13:09, 18 August 2011 (EST)

Williams Syndrome Foundation, accessed 22 August 2011, http://www.williams-syndrome.org.uk/

Williams Syndrome Association, accessed 22 August 2011, http://williams-syndrome.org/

--z3331469 13:12, 22 August 2011 (EST)

http://omim.org/clinicalSynopsis/194050 this is a clinical synopsis that is a good starting point for medical and physical abnormalities, it basically lists all complications associated with WS. I think we can use these as subheadings???

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1728781/pdf/v080p00205.pdf This is a source for cardiac abnormalities

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946897/?tool=pmcentrez

http://www.nature.com/ejhg/journal/v18/n1/full/ejhg2009108a.html

These last two are basically introductory info on WS and they have info for the Genetics heading

--z3331556 15:44, 27 August 2011 (EST)

http://books.google.com.au/books?id=9E9q5112WBgC&pg=PA151&lpg=PA151&dq=hallux+valgus+in+williams+syndrome&source=bl&ots=LdaFmjSds_&sig=QW_9bjbIgo44rXQrwKTh2TF5hSo&hl=en&ei=__teTu2oNMjEmAXCx80B&sa=X&oi=book_result&ct=result&resnum=4&sqi=2&ved=0CCwQ6AEwAw#v=onepage&q&f=false

--z3331556 13:38, 1 September 2011 (EST)

http://www.ncbi.nlm.nih.gov/books/NBK1249/ another good source

--z3331556 14:39, 3 September 2011 (EST)

Peer Assessments

• Intro was good, it was brief and straight to the point
• The beginning paragraphs of the history could be more summarised especially considering that you have a timeline beneath
• Your use of a table for the genetics’ component was great. It was easy to read and concise. It was a different approach but it worked well.
• More information could have been added to the treatment section such as comparisons between key methods/strategies, the pros and cons
• The phenotype section was well set out although I believe it should have been placed up after the genetics section so that the information flows more consistently
• The layout of the implications section was slightly unclear. Maybe here you could have large heading for implications, followed by a list (dot point) of the implications occurred then have in paragraph form a description of each. Having headings such as: Other problems and other associated medical conditions tended to drag on this segment.
• The inclusion of the supportive associations was a nice little touch!
• Great use of referencing

--z3332629 15:30, 22 September 2011 (EST)