Re: Retts syndrome

[Guest guest]

Rett's is a complex condition and there are several different genotypes so, for example, the Hanefeld variant has early onset seizures which other Rett girls dont, so it is useful to be clear about the genetic basis. The animal work by Bird's group in Edinburgh is really exciting because it shows that in an artificially produced Rett-like condition in mice it is reversible using displacement of a lox-STOP cassette. This approach would't work in human cases but shows that if we are able to find ways to specifically alter the DNA this might be a possibility. The most active esearch is still by Huda Zhogbi's group at Baylor. There is some work on biological differences and effects - for example, this early paper

shows that melatonin can sometimes correct the sleep-wake abnormalities commonly seen in Retts which interfere with brain development. Magnesium has been shown to improve the hyperventilation in some cases and l-carnitine can help with mood state. I have covered some of this work in the chapters on Retts in my A-Z genetics books. I hope this helps.Ken To: Autism-Biomedical-Europe Sent: Friday,

4 May 2012, 18:46 Subject: Retts syndrome

Hi everyone

I know a little 6 year old with Retts - Her parents are so proactive but are unaware that biomed can help...Does anyone any of any child with Rett that has responded to biomed-Im thinking that biomed should help resolve symptoms of pathogen overgrowth etc and methylation /sulphation problems / cerebral folate disease should be ruled out .Her presentation was like a severe autism regression and she appears to have alot of the features of autism that my son had -broken immune system ,GI issues ,mito problems .....anyone know anything ?

Any help really appreciated

[Guest guest]

Sorry, I forgot to give the melatonin ref, it is:

Miyamoto, A., Oki, J., Takahashi, S. and Okuno, A. (1999) 'Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome.', Brain & Development, 21: 59–62.Ken

To: Autism-Biomedical-Europe Sent: Friday, 4 May 2012, 18:46 Subject: Retts syndrome

Hi everyone

I know a little 6 year old with Retts - Her parents are so proactive but are unaware that biomed can help...Does anyone any of any child with Rett that has responded to biomed-Im thinking that biomed should help resolve symptoms of pathogen overgrowth etc and methylation /sulphation problems / cerebral folate disease should be ruled out .Her presentation was like a severe autism regression and she appears to have alot of the features of autism that my son had -broken immune system ,GI issues ,mito problems .....anyone know anything ?

Any help really appreciated