Neurogenetics, neurodiversity, and self-advocacy – the stuttering perspective

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.

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The I and the Why – stuttering and the infinity of neurogenetics

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.

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The zebra finch people – the genetics of stuttering in 2022

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