Talk:Usher syndrome

From Wikipedia, the free encyclopedia

	This article is supported by the WikiProject on Medical Genetics, which gives a central approach to Medical genetics and related subjects on Wikipedia. Please participate by editing the article Usher syndrome, or visit the project page for more details on the projects.
B	This article has been rated as B-Class on the quality scale.

To-do list for Usher syndrome:	edit · history · watch · refresh
See WP:MEDMOS for suggested additional sections

	This article is within the scope of WikiProject Medicine. Please visit the project page for details or ask questions at the doctor's mess.
B	This page has been rated as B-Class on the quality assessment scale
Low	This article has been rated as Low-importance on the importance assessment scale

[edit] Comments

WillowW asked me to drop by and comment on this article. I am posting my comments here.

Lead

• "gene therapy seems promising" - As someone with a disease for which "gene therapy seems promising", that phrase rings empty, I can tell you. Perhaps something a little more specific?

• Is that better? Willow (talk) 16:02, 6 January 2008 (UTC)

• The qualifier pigmentosa reflects the fact that clumps of pigment may be visible by an ophthalmoscope in advanced stages of degeneration. - Fascinating as this tidbit is, I think it belongs in the body of the article, not the lead.

• OK, I moved that, along with the definition of "syndrome". Willow (talk) 16:02, 6 January 2008 (UTC)

• Depending on which gene is mutated, the syndrome takes different forms; three main sub-types are recognized, denoted Usher I, II and III in order of decreasing severity. - This seemed a little odd to me - are the forms not different enough to have different names?

• I guess they're not different enough clinically? Probably nowadays people might refer directly to the mutated gene. Willow (talk) 16:02, 6 January 2008 (UTC)

• I wonder if it is necessary to explain what recessive means in the lead. That seemed a bit tangential to me. Again, important in the body of the article, but not necessarily in the lead as it is not specific to Usher syndrome itself.

• Removed definition of autosomal recessive, but kept explanation of parental thing. is that OK? Willow (talk) 16:02, 6 January 2008 (UTC)

• The "potential cures" paragraph I have just created should probably be expanded. Many of the readers coming to this page will be people with the disease or people who now know someone with it. That is information that will interest them in particular.

Article body

• I suppose we don't have figures for Usher syndrome from any other part of the world?

• I only know the few studies I mentioned (US, Germany, Scandinavia) but they are probably more; perhaps from France or England? Willow (talk) 16:02, 6 January 2008 (UTC)

• Why are the people born with Usher III in Finland and Birmingham?

• Presumably that syndrome could occur anywhere, but maybe people have only studied it there, or maybe there's a locally high concentration of people with the mutated gene living there. I need to read up on it. Willow (talk) 16:02, 6 January 2008 (UTC)

• Why is Usher's severity defined by deafness and not blindness?

• It's both, no? The rate at which you go blind varies with the clinical subtype. Willow (talk) 16:02, 6 January 2008 (UTC)

• The hearing impairment associated with Usher syndrome is better understood: damaged hair cells in the cochlea of the inner ear inhibit electrical impulses from reaching the brain. - check this rewriting

• I need to read up more on the specific cellular and inter-cellular pathologies of Usher syndrome; I'm worried that this sentence is not accurate as is, or at least may be slightly misleading. Willow (talk) 16:02, 6 January 2008 (UTC)

• What do you think about an appropriate diagram of the eye or ear in the "Symtoms and subtypes" section, rather than the genetic chart, which seems more appropriate to the "Genetics" section?

• I completely agree, although I'd need to find/make such diagrams, which could be hard for me. Pigmentosa aside, I think the damage may only be visible only microscopically, on the level of cells or between cells, so the macroscopic anatomy of the ear or eye might not be that useful. Willow (talk) 16:02, 6 January 2008 (UTC)

• The "History" seems to interrupt the flow of the article - I would either put it first or last in the article.

• OK, I put it first and re-wrote it slightly. Willow (talk) 16:02, 6 January 2008 (UTC)

• I didn't understand the first two paragraphs of "Subtypes and genetic causes". The sentences were a bit convoluted and I think that I just got lost amid the concepts, too. I think much more explanation is required there.

• I would add more on the "gene therapy" section.

• The "Individual cases" section seems a bit listy to me. Why not make "List of people with Usher's syndrome" like "List of people with epilepsy". I'm not sure I really like these lists, but people make them.

• This probably tells more about me than about the disease. :( Given the challenge of living without both hearing and sight, I wanted readers to know that people still live incredibly productive lives and meet that challenge head-on. The Spencer Tracy connection is relevant, because a major center was opened to help children living with Usher syndrome. Willow (talk) 16:02, 6 January 2008 (UTC)

• The page should have a section like "Treatments" or, if there aren't any, "Living with Usher Syndrome". You might look at Tourette syndrome, Asperger syndrome, and Autism. They are all FAs and seem to have similar layouts - they have sections entitled "Epidemiology", for example.

• A great idea that I haven't gotten to as yet. I might be able to move some people from the "Individual cases" section to "Living with Usher syndrome".

I hope this was helpful. Awadewit | talk 20:41, 10 November 2007 (UTC)

Thank you, Awadewit! I definitely look at the pages for those other diseases; I'm keenly conscious of there being a lot left to do on this article. :P Willow (talk) 16:02, 6 January 2008 (UTC)

[edit] Cochlear implants

However, a mis-diagnosis can have bad consequences, e.g., if the parents elect to give the child cochlear implants.

What are the bad consequences? I don't understand - would the implants not work if the child actually has Usher syndrome? Or would they just miss the blindness yet to come (in which case the consequences aren't really worse because they would have become blind regardless)? 70.130.233.237 (talk) 03:07, 18 May 2008 (UTC)