Wednesday, February 24, 2010

PatientsLikeMe: The future of trials?

Gustaf sent me the link to PatientsLikeMe sharing their story and history of their illness. There are even people who stutter sharing information of their condition...

Watch the video at 10:00 when he talks about a different way of doing trials! Not sure about the feasibility, but worth thinking about.

Sunday, February 21, 2010

Costly Enzyme replacement

Let's just assume enzyme replacement treatment to counteract the recently identified gene mutation exists. According to Holger, who has dug out the costs of existing treatments for Lysosomal disorders.
Morbus Fabry charges around 200'000 € per year per patient.
I mean who can pay for this? And, I rather spent 200'000 € on something else!

Friday, February 19, 2010

More genes found!!!

You must listen to the Stutter Talk interview with Dennis Drayna on his team's discovery of a genetic mechanism for stuttering in 10% of people who stutter. Not once but twice or three times! I did, and here is my summary (and comments in brackets):
  • 8.9% of stutterers have mutations in one of the three related genes, but this number can change. (I agree: there is a large statistical error in drawing a sub sample from the population of stutterers. Not sure about the magnitude, but from 5% to 15% is definitely possible.)
  • Roughly 10% appear to stutter because of mutations in one of three genes.
  • The first gene was first discovered in large Pakistani stuttering families on chromosome 12, and then looked for and found in other stuttering Pakistanis, and US and UK samples of stutterers.
  • The gene is one of two genes responsible for constructing an enzyme used for a specific cellular metabolism.

Stuttering a communication disorder?

StutterTalk is trying out a shorter format: sessions of less than 10 minutes. Good idea! Make it sharp, short, one topic, and more people will listen. But not every day, but 2-3 times a week. The longer sessions are really more of a series of topics with a guest and more in depth, and one every 2 week published for a weekend is best in my humble view.

One of the first topics was Do people stutter when alone? I don't like the language and arguments they used: only introspective and phenomenological. They truly live and think in a 20th century way devoid of deeper neurobiological understanding and perspective. My extra view points are

1) Talking alone is very different to talking to yourself in terms of which brain areas are involved.

Tuesday, February 16, 2010

Engaging Norbert in Semantics

In a previous thread you criticised Jane Fraser for saying that Early Intervention (EI) can prevent stuttering. You then quoted the Packman research about how *some* children relapse after Lidcombe therapy as proof that what she said was incorrect. This is either a strawman or you seem not to have grasped that all we are saying is that EI *can* prevent stuttering. It's not a guarantee, and no-one has ever said it was a guarantee.
For me, "can" is equivalent to "is able to" and applies a strong causality and certainty. The sentence "EI can prevent stuttering" reads to me as "EI has the ability to prevent childhood stuttering to become adult stuttering." What you really want to say is "EI may prevent adult stuttering in kids who stutter", which I also disagree but I am less certain. Even if you insist on your interpretation of the sentence, I do not share this interpretation and I would not be surprised that my parents and other concerned parties read the sentence as "If you have (well-administered) EI, my child will stop stuttering forever." It is your responsibility to come up with a sentence that is crystal clear as to the meaning you want to convey, because you communicate to

Monday, February 15, 2010

Subtype Brain imaging!

I have always been concerned that subtypes are significantly obscuring the experimental data of all sorts from brain imaging to behavioural studies. The gene discovery has highlighted what we already knew before: Different genes can cause or shape the development of stuttering. Think about all those brain imaging studies: those stuttering brains, a mixture of different gene subgroups and other causes. Shouldn't we not just do those with the discovered gene and see what their brains look like? We should get a sharper image! That's what true science is about: zooming into a phenomena. It's very simple: we just need to repeat all the past experiments only for this one subtype.

Responding to Norbert's /BSA's stance on early intervention

BSA says exactly the same as the SFA; we are convinced that this is right. So do the great majority of therapists and researchers of whatever camp.
I do not care if the great majority of therapists and researchers think that. Science is not done by majority voting. Let me point out that no-one understood that the statistics of the Lidcombe study was flawed except myself: that's not a sign of scientific greatness of the field. Except Prof Ingham and a colleague who has re-run and confirmed my results with a computer simulation. Convince me by counter-argument not by authority.
When it comes to comparing recovery figures between children who do and children who do not receive therapy, your critique appears based on the assumption that every therapist will treat

Early intervention effectively preventing stuttering???

Jane Fraser writes:
“We have long known that stuttering runs in families,” says Fraser. “We want to emphasize that a genetic predisposition for stuttering does not mean a person will have a lifelong problem. Early treatment in young children can effectively prevent stuttering.”
The statement "Early treatment in young children can effectively prevent stuttering." is clearly misleading. Neither the outcome data supports this nor common sense (let alone theoretical considerations). Again and again and again and again, I point to the only long-term outcome study of the Lidcombe treatment which shows despite methodological weaknesses that the recovery rate is not much better than the natural one. But no-one ever quotes this study. Why not?

And with the discovery of the mutant genes for a subtype of stutterer as I wrote in my reflections, it is

Sunday, February 14, 2010

Gunars Neiders' PhD

Gunnars Neiders has made his PhD public, I browsed through and discovered many lines of thoughts with which I agree. However, I also felt a certain lack of an over-arching framework and conceptual unity, and many interesting points seem to be listed rather than structured together. In any case, congratulations for your PhD. We need more people who do theoretical work.

Make up your own mind. Here is the abstract:

This work was motivated by meta-analyses of outcome studies in which a third of individuals

Saturday, February 13, 2010

The start of a journey: reflections on the gene discovery

Real science is encroaching on stuttering research and stuttering is now being cornered from two sides: the symptoms and the genes. Mark asks the very crucial question that every sane person must now ask: How does a failure in a lysosomal transfer protein affect speech production? Genes are physical objects. No more hiding of your sloppy thinking behind the curtains of abstract psychological concepts. You can point with the finger to them, and they deliver the instructions for the cells on how to build proteins. Three mutant genes were identified in people who stutter. Such a mutant gene results in the failure to produce a standard lysosomal transfer protein. If you have one, you very likely stutter.
Let's re-examine those glorious statements of early intervention in the lights of kids with one such mutant gene. How exactly should that work? Behavioural work à la Lidcombe or parental work lets them fully recover? Oh, I once dared to ask the question on how such therapy can work if there is a neurobiological basis. The answer was of course: Brain Plasticity. The magic word, yet again a curtain to hide behind your sloppy thinking. Let's be clear: How can early intervention change the mutant gene or provide the body with the right lysosomal transfer proteins. The answer is very clear: It cannot. The damage is done, and the brain of the kids are damaged.
Tell me that you try to install new behaviours and cognitive schemes in the young children in order for them to better cope with a life-long neurobiological deficit. Great, I wish you would have worked with me as a kid. But don't tell me that early intervention makes more kids recover fully. You are being fooled by the natural

Friday, February 12, 2010

Genetics FAQ: Why fluctuation in symptoms if biological?

Ivan wrote on STUTT-L
... how exactly do these genes work? Can they be turned on and off? Something I consistently observed is that I am perfectly fluent when alone, but the moment someone enters the room, in a split second, the stuttering comes. If we assume the research is accurate, this seems to suggest that the gene is not always on. It has to be triggered...
There is no paradox.

Let me start with an analogy.

Imagine a car factory producing car batteries that work well in all weather conditions. They have instructions on how to build these batteries. (= All-weather battery gene)

Now, there is some mix-up in the production process

Mark/Tom: Summary of gene discovery

Mark Bulger has sent me a summary of the paper. Thanks! Here it is (my extra comments are in italic.)

In an earlier study (Am J Hum Genet. 2005 Apr;76(4):647-51), the Drayna research group found a high likelihood that there was a gene or genes related to stuttering on chromosome 12 in a population of Pakistani families. In this study (February 2010), they used DNA sequencing and related technologies to identify the actual genes that produced the results in the earlier study.

Two paired groups were examined: Pakistani families in which stuttering is common together with a control group of Pakistani non-stutters, and American and British stutterers, with a similar control group of matched non-stutterers.

Three genes were found to have variants that occurred in the stuttering groups, but not (or rarely) in the non-stuttering control groups. The changes observed in the DNA code of these genes provide a different instruction for the cells to produce a protein and would be expected to result in a protein with a

Thursday, February 11, 2010

Breaking News: Stuttering Genes "officially" found

The discovery of stuttering genes are on the front page of the BBC website. But the BBC and all other media are one year slower than myself! I told you about the discovery here reporting from Greg Snyder's letter in January 2009! ;-)

My first prediction of this year has turned out to be true. Dr Dennis Drayna and his group at NIH at Bethesda claim to have found the first genes for stuttering. The scandal of course is that he and his team knew this for  years (!!), but due to the idiotic embargoing from the top science journals, authors are forced to withhold such information until publication thereby depriving the research and wider community from pieces of the jigsaw puzzle. Even though NIH is funded by tax payers' money. That is not good open science for me!

Summary: A variation of a gene causes disruption of the normal metabolism in some brain areas leading to stuttering, and two or more variants of the gene lead to severe health issue.

Conclusion: For all those who have one variant like Greg Snyder just be happy that you only stutter and don't have another variant!

Congratulations to Dennis and his team for hard diligent work! Here is the NIH press release. (Detailed analysis will follow.)

Researchers Discover First Genes for Stuttering
Findings suggest common speech problem, in some cases, may actually be an inherited metabolic disorder

Stuttering may be the result of a glitch in the day-to-day process by which cellular components in key regions of the brain are broken down and recycled, says a study in the Feb. 10 Online First issue of the New England Journal of Medicine. The study, led by researchers at the National Institute on Deafness and Other Communication Disorders (NIDCD), part of the National Institutes of Health, has identified three genes as a source of stuttering in volunteers in

Wednesday, February 10, 2010

Guest Blogger Mark Bulger

Just a quick note: I invited Mark Bulger to be a guest blogger at The Stuttering Brain with 1-2 posts per week. I read a few posts on his newly established blog, and I found them all interesting. Adding a new and different perspective. His educational background is biology and genetics, and I always felt that I neglected the genetics part a bit. So I am looking forward to his ideas on genetics.

Diving and stuttering

I have joined a swimming club two years ago, and twice a week I swim a fixed program. One exercise involves swimming for 25 meters with flippers and legs only. I usually try to swim with my head under water. I noticed that after 10-15 meters, my body shows struggling behaviours and at first I tried to act on them by moving my body or breathing out, or giving up. Now I have learned to ignore and live with the struggling behaviours. Interestingly, they go away after a few very uncomfortable seconds, and then I have "breathing" space for 10 more meters and then they start again.

I see an analogy to stuttering. When we have a abnormally long jam in the brain we experience a very uncomfortable urge to "get it out". Typically, we cannot resist the urge and let our body take over and react: tense blocks and other symptoms follow. Successful stutterers have learned to ignore or resist the urge to uncontrollable behaviors, and wait until they have control back.

Now, as in diving, you cannot learn to ignore or resist cognitively, but you need to teach your body to do this by repeated exposure. And not only repetition but you also need to stretch your limits. So I would dive and once I have those struggling behaviors, I would say to myself: "Count until 5 and then go up". In this way, I pushed myself, which is very uncomfortable, but you can only learn this way. After a while, ignoring the struggling behaviours is still uncomfortable but I do not feel I have to act on them. And then I set myself a new limit. Translate this to stuttering, we need to learn this in real situations, and you need to feel the pain and discomfort of not speaking and being blank minded for 1-2 seconds. It is hard work, and you need to keep on doing it.

Tuesday, February 09, 2010

Mark: Question Time

[Guest blogger Mark Bulg writes:] I'd like to start my contribution to The Stuttering Brain with questions, rather than answers. There are two questions that seem to be favorite discussion-starters in the stuttering therapeutic community, perhaps to the point of cliche. The first asks: If there was a pill that cured stuttering, would you take it? The second, sometimes phrased as a statement, is: Is stuttering a gift? I’d like to rephrase those questions, and start a new discussion.

Question number one: If there was a pill that caused persistent developmental stuttering, how many non-stutterers could you convince to take it?

Question number two: If stuttering is a gift, whom would you give it to?

Monday, February 08, 2010

The Faces of Stuttering

My name is Mark Bulger, and I live near Boston, Massachusetts, USA. At 55 years old, I'm approaching a half-century of stuttering. Since leaving an ineffective therapy program at about 12 years old, I have been free of and entirely uncontaminated by stuttering therapy. Today, by virtue of patience and the passage of time, my stuttering is much improved over my early years. My education in biology predisposes me to see stuttering as a condition with an organic basis, and makes me very skeptical of much theory and research in the field.

Tom has been kind enough to invite me to guest post on The Stuttering Brain. I will try to focus on stuttering research and opinions voiced in the stuttering therapy community.

Monday, February 01, 2010

Presentations of NSA research symposium.

Here is a link to the presentations from the 2009 NSA research symposium. Check out Drayna's presentation. (Thanks to a reader for the tip.)

Hard Talk with Jerry Maguire

Following my Skype chats with Per and Deryk, I chatted to Jerry Maguire, Chief Investigator of the Pagoclone study. He agreed to a no-questions-barred interview. I also want to disclose that he invited me to the opening to his center for the medical treatment of stuttering two years ago on a visiting grant paying my traveling and accommodation expenses. So I do have some potential conflict of interest, but as you see from the questioning, I did ask tough questions. It is very important that we as the stuttering community ask tough and honest questions about Pagoclone, a compound that might well generate hundreds of millions of revenue or tens of millions of loss to the pharmaceutical companies. The financial stakes are high!

Here is the transcript of a 2 hour long chat. Enjoy!
Tom Weidig: Thanks for having the courage to a no-questions barred interview with TheStutteringBrain! Let me start with yourself. You said that you are a person who stutters. At talks or in person, you are stuttering relatively little apart from occasional small blocks/pauses. Is my observation correct? In all situations? How about when you were younger?

Gerald Maguire: My stuttering is greatly affected by the medication I take. If I were to stop my medication, my stuttering would return to its levels that were around when I was younger. My