Perspective. This blog post is about a topic that I had planned to write about for a while – the intersection of neurogenetics and self-advocacy. This is a potentially loaded topic in many disease areas, and I had held off on writing this for a while. However, when I put together my prior blog post on the different perspectives on stuttering, it occurred to me that I could use stuttering genetics as a vehicle to get these thoughts across. Stuttering genetics is relatively underdeveloped, and I feel that I can speak to the intersection of self-advocacy and genetic research as pediatric neurologist involved in neurogenetics research and as a person who stutters. However, this post is not only about stuttering, it is about how neurogenetics and self-advocacy may be synergistic, adding nuance to both perspectives.
Dysfluency. I typically reserve my more contemplative blog posts for our summer beach vacation, but there are some thoughts that I had during this Spring Break that I wanted to share. In brief, I read Life on Delay by John Hendrickson and started reading The Beginning of Infinity by David Deutsch. At first glance, these two books couldn’t be any more different – a story about bullying, depression, isolation, and other issues that people who stutter face on a daily basis, and a wide-ranging narrative about the cosmic power of the search for good, scientific explanations. Then something occurred to me: there are two ways to spell dysfluency/disfluency. Hendrickson spells dysfluency with an “I,” while the scientific literature often prefers the “Y”. And this ambivalence may actually tell us something about the nature of neurogenetics more broadly.
Zebra finches. Exactly one year ago, I wrote my last blog post on the genetics of stuttering and thought that it would be time for an update. Here, I would like to explore why stuttering is a truly neglected neurogenetic disorder and why we have made so little progress. In addition, I would like to give a brief update on where we are right now, looking at stuttering from the perspective of the wider pediatric neurogenetics field. In addition, we will unleash the power of EMR genomics to query the medical records of more than 52,000 individuals to find associated genes, and we will discuss a monogenic cause of familial childhood-onset fluency disorders that we did not expect to find. Here is a summary of the last 12 months in stuttering genetics. Continue reading
Area X. Zebra finches are a small bird species that originate from Australia and can be found all around the world. They are highly social birds and even though some zebra finches may sometimes get aggressive when defending their territory, they are generally polite if unprovoked. Seven percent of all zebra finches have interruptions and repetitions in their bird songs which is a naturally occurring variation on how zebra finches communicate. When the same phenomenon occurs in humans, it is referred to this as dysfluency or stuttering. Even though there are many myths around the causes of stuttering, developmental stuttering, the most common form of dysfluency, is a neurodevelopmental disorder with a strong genetic component as shown by twin and family studies. Dysfluency is also a phenomenon that I know extremely well given that I am a person who stutters myself. In 2013, I wrote my first blog post on the genetics of stuttering, telling the story of how my differently wired brain tripped up an epilepsy neuroimaging study. Here is a 2022 update on one of the fascinating conditions that contributes to human neurodiversity. Continue reading
Communication breakdown. The Greek orator Demosthenes was said to treat his speech impediment by talking with pebbles in his mouth and shouting above the roar of the ocean waves. US Vice President Joe Biden, brutally nicknamed Joe Impedimenta in school, worked on his stuttering reading Emerson and Yeats aloud. Hollywood actor Samuel L. Jackson overcame blocks and pauses while talking by interjecting his trade mark profanity. Given the list of famous people who stutter including Isaac Newton, Charles Darwin, and Theodore Roosevelt, I feel in pretty good company. I am a person who stutters myself, even though my speech impediment is currently mild. Stuttering is a neurodevelopmental disorder whose genetic architecture is entirely unexplored on the molecular level but clinically shares resemblance with many other neurodevelopmental disorders that we have written about on this blog. Today is International Stuttering Awareness Day. I have thought back and forth about whether I want to write this post given my personal involvement as a person who stutters and the resulting lack of objectivity. However, I finally decided to do so in order to put stuttering where it belongs – on a research blog about neurogenetics. Continue reading