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Scientific advance in the understanding of fragile X syndrom

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r_mc
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20 Apr 2007, 2:13 pm

http://www.theherald.co.uk/news/news/di ... gile_x.php

I know fragile X syndrome isn't autism per se, but it is a similar condition. Just thought this may be of interest to some folk here, and it shows good progress is being made in understanding developmental disorders. A cure is not impossible.



matt271
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20 Apr 2007, 2:21 pm

Fragile X eh??

Wikipedia wrote:
Aside from intellectual disability (mental retardation), prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, large testicles (macroorchidism), and low muscle tone. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism. While full mutation males tend to present with severe intellectual disability, the symptomology of full mutation females runs the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males.


well i have large testicles :D



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20 Apr 2007, 3:41 pm

r_mc wrote:
http://www.theherald.co.uk/news/news/display.var.1338745.0.scots_scientists_help_to_unravel_the_mystery_of_fragile_x.php

I know fragile X syndrome isn't autism per se, but it is a similar condition. Just thought this may be of interest to some folk here, and it shows good progress is being made in understanding developmental disorders. A cure is not impossible.


I'm not convinced it is a similar condition. It is caused by a specific genetic mutation, rather like PKU. Any child who is profoundly mentally ret*d can appear to be autistic. It appears they are saying the less ret*d are sociable and the more ret*d appear autistic.


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20 Apr 2007, 4:18 pm

SeriousGirl wrote:
r_mc wrote:
http://www.theherald.co.uk/news/news/display.var.1338745.0.scots_scientists_help_to_unravel_the_mystery_of_fragile_x.php

I know fragile X syndrome isn't autism per se, but it is a similar condition. Just thought this may be of interest to some folk here, and it shows good progress is being made in understanding developmental disorders. A cure is not impossible.


I'm not convinced it is a similar condition. It is caused by a specific genetic mutation, rather like PKU. Any child who is profoundly mentally ret*d can appear to be autistic. It appears they are saying the less ret*d are sociable and the more ret*d appear autistic.


I agree. Plus, there are a whole host of physical symptoms that usually accompany Fragile X that don't have anything to do with autism. People who are mentally ret*d likely will have difficulty understanding and producing speech, and may also have difficulty processing sensory information, but I wouldn't consider that on its own to offer evidence of a relationship to autism.



Last edited by LostInSpace on 20 Apr 2007, 9:32 pm, edited 1 time in total.

SteveK
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20 Apr 2007, 5:26 pm

Fragile X is caused by damage to some genes on the X chromosome, and the possible inability of others to be expressed. It is almost like a cross between a Y and an X. If a girl has the problem, she may luck out with her good copy compensating. If a boy has it, he is SUNK! He has to make do. It is possible that some genes could be similar to those for autism, but the two ARE totally different.

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20 Apr 2007, 5:30 pm

SteveK wrote:
Fragile X is caused by damage to some genes on the X chromosome, and the possible inability of others to be expressed. It is almost like a cross between a Y and an X. If a girl has the problem, she may luck out with her good copy compensating. If a boy has it, he is SUNK! He has to make do. It is possible that some genes could be similar to those for autism, but the two ARE totally different.

Steve


yeah i'm having issues with the link above... and i cant recall the specifics of FXS... but i know there is an epigenetic mechanism involved where the expression of the genes is funked up


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eDad
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30 Apr 2007, 7:39 pm

I find the research on Fragile X interesting. My son has a lot of the physical characteristics typical to a Fragile X person. He has flat feet, long face, and people who are close to my son have always commented on his unusually large ears. The genetic theory also matches the way the AS gene had worked its way in our family.