High Fracture Risk and Power Tumbling: About Rett’s Syndrome
March 11, 2008 by Kristina Chew, PhD
Filed under Genetics, Health, Sports
Researchers from the Perth’s Telethon Institute for Child Health Research in Australia have found that girls and young women with Rett’s Syndrome are four times more likely to suffer a fracture. From Science Daily:
Dr [Helen’ Leonard said the study had found that girls with epilepsy and more severe forms of Rett syndrome were more likely to suffer fractures. “Our next step will be to try to identify the mechanism that is making the girls more susceptible to fractures which will include looking at the effect of the specific gene that’s responsible for the syndrome and also the impact of the drug therapies used for epilepsy,” Dr Leonard said.
“The high incidence of fracture impacts on the quality of life, care needs and outcomes for this group and their families. We have shown previously that having a child with a fracture impacts in a negative way on the mother’s mental health status.”
Rett’s Syndrome occurs mostly in girls and occurs in approximately 1 of every 10,000 to 23,000 female births.; mutations of the MECP2 gene on the X chromosome have been identified as a cause of Rett’s syndrome. The new study is published in Pediatrics.
As for the “high incidence of fractures”: Here’s my friend Kassiane Alexandra Sibley (who has Rett’s) doing some power tumbling.
Jeff Stimpson
Jill Cornfield
Kassiane, all I can say is WOW!!!
I can’t even do a cartwheel…
Kassiane, that is freaking amazing. I read some of the comments. It’s amazing how stupid “neurotypical” people can really, truly be. Nice power tumbling. It made my knees hurt just watching it.
I had no idea Kassiane did tumbling. That is very cool!
I always wonder what M is more prone to with her chromosome disorder. This video lets me know to not worry about it too much!
I can’t even do a somersault. Ok, I used to, but have become timid in aging.
Hee. Wow, I’m a blog entry *blush*
Something that isn’t there in the video: I totally MAIMED my foot this summer, doing something I’ve done about 10,000 times. It required screws and everything, which…it totally shouldn’t have given what I was doing. But it was TOTALLY WORTH IT, with all the fun and health benefits.
Low nitric oxide causes osteoporosis and low bone density.