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G-g-g-great.

http://news.bbc.co.uk/1/hi/health/8507086.stm

Quote:Genes behind stammering uncovered



Stammering has long been recognised to run in families, but scientists now say they have identified three genes which may cause the problem in some people.

They believe that mutations which have already been tied to metabolic disorders may also affect the way in which parts of the brain function.

The study involving cases in Pakistan, the US and England appears in the New England Journal of Medicine.

Stammering affects about 1% of all adults worldwide.

Those affected repeat or prolong sounds, syllables or words, disrupting the normal flow of speech.

With early intervention children who stammer can overcome the problem, while for adults therapies are based on reducing anxiety and regulating breathing to improve speech.

But the team from the National Institute on Deafness and Other Communication Disorders (NIDCD) hopes its discovery may pave the way for new treatments.

Nearly one in ten of the sufferers examined were found to have a mutation in one of three genes.

Metabolic problems

Two of these, GNPTAB and GNPTG, have already been linked to two serious metabolic diseases in which components of cells are not effectively recycled.

“ In addition to finding new forms of treatment, we hope this may help us identifying those children at risk of persistent stammering as it is only through early intervention that they have a chance of recovering fluent speech ”
British Stammering Association
These disorders, known as lyposomal storage disorders, lead to a build-up of a potentially dangerous substance which can cause problems in almost every area of the body, including the brain.

People with this defective gene need two copies to develop the metabolic disorder, but one copy appears to be associated with stammering.

A third defective gene, which is closely related to the other two, was also found among stammerers but not among the controls.

"For hundreds of years, the cause of stuttering has remained a mystery for researchers and health care professionals alike, not to mention people who stutter and their families," said James Battey, head of the NIDCD.

"This is the first study to pinpoint specific gene mutations as the potential cause of stuttering, and by doing so, might lead to a dramatic expansion in our options for treatment."

The metabolic disorders pinpointed can be treated by injecting a manufactured enzyme into a person's bloodstream to take the place of the enzyme the body fails to produce. It is possible stammering, if confirmed to be caused by the same defect, would respond to the same treatment.

The British Stammering Association welcomed the findings.

"It is just the latest in a string of recent discoveries highlighting the fact that the cause of stammering is physiological - a symptom that, for whatever reason, the brain's neural circuits for speech are not being wired normally," said its director Norbert Lieckfeldt.

"This puts into sharp relief the bullying and ridicule people who stammer often experience, as opposed to people experiencing for instance mobility disabilities.

"In addition to finding new forms of treatment, we hope this may help us identifying those children at risk of persistent stammering as it is only through early intervention that they have a chance of recovering fluent speech."

This is an interesting subject to me because I worked with someone who stammered. (In fact he looked like a grown version of the child in the photo...hmm.)

It's a bad card to be dealt. I've been curious about the cause.

That's great that they've identified some genes related to the condition. I wonder how much practical difference it'll make and how treatable it is with speech therapy and such. I don't know how early stammering tends to be apparent. Don't know much about it at all in fact. I'll have to read up.

If it has a genetic cause or component I wonder why some (most?) outgrow it and some don't.

And that it isn't present while singing.

Magda Hassan Wrote:And that it isn't present while singing.

It isn't?!

Damn, neurology is so interesting. Have you ever read anything by Dr. Oliver Sacks? In particular the effect of music on the human (not just human?) mind. He some dramatic examples of the music phenom on very sick patients, but on a more mundane level--why do we get songs stuck in our heads? Music almost seems essential at a cellular neurological level. Maybe is has a mantra like effect.

Yes, it must use different parts or pathways of the brain. It's been a while since I read any of Dr Sacks books. Was that 'The Man Who Mistook his Wife for a Hat'? I'm inspired now to go back and re-explore. Music and dance is in every culture (except the for Taliban apparently and perhaps Methodists) and just seems innate in humans.

Magda Hassan Wrote:Yes, it must use different parts or pathways of the brain. It's been a while since I read any of Dr Sacks books. Was that 'The Man Who Mistook his Wife for a Hat'?

That's him. And "Awakenings" which was made into a very successful movie. I think neurology must be one of the most interesting medical specialties.

Magda Hassan Wrote:I'm inspired now to go back and re-explore. Music and dance is in every culture (except the for Taliban apparently and perhaps Methodists)

Magda Hassan Wrote:I'm inspired now to go back and re-explore. Music and dance is in every culture (except the for Taliban apparently and perhaps Methodists) and just seems innate in humans.

I wanna know why music is always stuck in my head! When you figure it out please explain it to me. Maybe it's to keep unwelcome thoughts out.

Magda Hassan Wrote:Yes, it must use different parts or pathways of the brain. It's been a while since I read any of Dr Sacks books. Was that 'The Man Who Mistook his Wife for a Hat'? I'm inspired now to go back and re-explore. Music and dance is in every culture (except the for Taliban apparently and perhaps Methodists) and just seems innate in humans.

Here's a good starting point: http://www.oliversacks.com/books/musicophilia/
The impact of music on the brain is a major area of interest for Dr. Sacks.

Ok, who wants read this book then post a book report for us???

More:
http://video.google.com/videosearch?hl=e...CUQqwQwAw#

Myra Bronstein Wrote:

Magda Hassan Wrote:Yes, it must use different parts or pathways of the brain. It's been a while since I read any of Dr Sacks books. Was that 'The Man Who Mistook his Wife for a Hat'?

That's him. And "Awakenings" which was made into a very successful movie. I think neurology must be one of the most interesting medical specialties.

Magda Hassan Wrote:I'm inspired now to go back and re-explore. Music and dance is in every culture (except the for Taliban apparently and perhaps Methodists)

Magda Hassan Wrote:I'm inspired now to go back and re-explore. Music and dance is in every culture (except the for Taliban apparently and perhaps Methodists) and just seems innate in humans.

I wanna know why music is always stuck in my head! When you figure it out please explain it to me. Maybe it's to keep unwelcome thoughts out.

Yes, interesting isn't it? Sometime they are the most inane songs too. Like Lollypop or Lily the Pink.

Talking about singing overcoming stammering, I also know someone who's verbal dyslexia disappears completely when they sing (and no it's not me -- can't sing for toffee).

It suppose it has something to do with the rhythm.

David Guyatt Wrote:Talking about singing overcoming stammering, I also know someone who's verbal dyslexia disappears completely when they sing (and no it's not me -- can't sing for toffee).

It suppose it has something to do with the rhythm.

Yes, and maybe the fact that there are existing lyrics so they're not trying to form concepts and grope for the correct words to express them. Though that could easily be tested by having them recite a poem or something without music. Does anyone know if stammering also stops when reciting memorized words, or does music have to be a component?