Wednesday, December 27, 2023

A breakthrough? Is this the best example of a neurobiological basis of stuttering?



You have to check out this article by Szepetowski & al.

They took a family where many members stutter, isolated the responsable gene and studied their brains, created a mouse with the same gene issue, studied the brain of these mice and compared them to the brains of the stuttering family members and the other research findings.

They detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members and also significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering.

I am not an expert and didnt delve deep into their research, but this seems to me the strongest concrete evidence for a neurological basis for stuttering. It is fascinating to see how one tiny little gene leads to a different or missing protein in the brain impacting the brain development leading to abnormal neurobiology causing a low capacity speech system leading to an increased frequency and delay of being able to articulate what you know you want to say, which then leads to all kinds of secondary behaviours such as emmms, blocks, tension, word substitution and avoidance of situations leading to social reactions which then back feed onto your brain which under stress and pre-conditioned will have more and longer stuttering events even when the brain would have been able to say it fluently.

Beautiful... in a certain way... terrible for us who are afflicted with the disorder!

Happy Xmas!

Abstract

Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.

Monday, November 13, 2023

A Member of Parliament who stutters!

 


On October 24th, I got sworn in as a member of the Luxembourg parliament, which we call the Chamber of Deputies. We had our national elections on October 8th. I was one of two leading candidates for the Central District of Luxembourg among 21 candidates in total on our list and received the most votes. As we live in times in which you like or dislike people according to their political views and not because of who they are as a person and behave towards yourself, my party is called the Alternative Democratic Party, which I would like to think of as the political middle ground between a Joe Biden and a Donald Trump. In Europe which has undertaken a significant left turn over the last two decades, some would say that I am right of center. We often call ourselves liberal-conservatives... So now you can decide whether you still like me or not! ;-)

It is a bit surreal, because the very last thing that I had imagined as a stuttering teenager was that my future would lie in politics and in being a member of parliament for five years! I would have been horrified to have to speak to potential voters, attend podium discussions and speak in parliament. In a sense, I am still a bit horrified, but I just choose to apply the simplest and hardest trick for people who stutter "live your life as if you are fluent and ignore the thoughts your brains generate regarding potential future speaking situations". 

I hope I can give people who stutter, especially those that are still in their formative years, hope that they can achieve nearly everything that they want, despite their stuttering, but only if they "live their life as if they are fluent and ignore the thoughts your brains generate regarding potential future speaking situations".  Of course, we do have a dysfunction as we cannot say exactly what we want to say even though we know exactly what we want to say at that moment, but the handicap is mostly derived from our own thoughts putting limitations on ourselves. So best to just do it, and see what's happening. If you can do it, great! If not, then you know.

Try it out!

And my apologies, to my blog who has suffered from a lack of posts due to my other engagement.s

Sunday, February 12, 2023

On live TV in a challenging debate


Maybe this picture is inspirational for some of you who also stutter. I was on live TV in a challenging talk show scenario where everyone was "against me". Just goes to prove that we can speak our mind even when showing visible stuttering.

If you wonder what the show was about, it was about the Luxembourgish language, called Lëtzbuergesch, and I was on the show as the co-author of a book on the decline of the Luxembourgish language.

I did stutter and have blocks, but I survived and I have to say that ALL comments I got on social media were positive. The majority congratulated me for defending our language. Many admired my courage to speak out on a sensitive issue, despite my stuttering. And even for those you tried to denigrate my efforts by writing stuff like "You were just stumbling along cluelessly", I created a positive twist and made it a teachable moment by explaining to them that I am a person with a speech handicap and I challenged them (or shut them up, if you want the politically incorrect) with the question "Should I as a person who stutter not have the same rights to speak out?"