Research Notes

Imaging genetics research in stuttering: Connecting the dots

Ho Ming Chow1 and Soo-Eun Chang2
Communication Sciences and Disorders Program, University of Delaware, Newark, DE 
2Department of Psychiatry, University of Michigan, Ann Arbor, MI

Stuttering is widely considered as a neurodevelopmental disorder, an umbrella term comprising childhood-onset disorders that affect the development of specific abilities, including executive control, language, and motor function, with no obvious cause. Like many neurodevelopmental disorders, the etiology of stuttering is not fully known and is likely to be complex. 

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Report on transcranial magnetic stimulation in persistent developmental stuttering

Martin Sommer
University Medical Center Göttingen, Germany

Structural imaging data suggest a disconnection of speech relevant brain areas as an underlying neurological correlate of persistent developmental stuttering. We wondered how this translates into measurable dysfunctions of speech preparation. To study this, we used transcranial magnetic stimulation over the part of the motor cortex controlling the tongue, a key articulatory muscle.

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Psychopharmacological approaches for stuttering

Gerald A. Maguire, University of California, Riverside School of Medicine

Although no medication is FDA approved for stuttering, several studies have shown certain medications to have beneficial effects on reducing the severity of stuttering symptoms. Different classes of medications have been investigated, but those with dopamine blocking activity have been shown in numerous trials to have positive effects on stuttering. These medications are FDA approved in the United States (and hold similar approval in most countries) for other conditions and their safety profiles are well established in the relevant disorders.

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Genetic factors and their action in persistent stuttering

Carlos Frigerio Domingues, Tae-Un Han, and Dennis Drayna, National Institutes of Health, Bethesda, Maryland This email address is being protected from spambots. You need JavaScript enabled to view it.  

The ability to produce fluent speech is developedand maintained to a large degree by the products of our genes; defects in genes have been repeatedly associated with stuttering.  Starting with studies in large families in which there are many cases of persistent developmental stuttering, mutations in the GNPTABGNPTGNAGPA,and AP4E1genes have been associated with this communication disorder (Kang et al, N Engl J Med, 2010, Raza et al, Am J Hum Genet, 2015.  Together, mutations in these these four genes seem to account for approximately 20% of cases of persistent stuttering in the general population (Raza et al, Eur J Hum Genet, 2015, Frigerio-Domingues and Drayna, Mol Genet Genome Med2017) . All of these genes encode components of the machinery that moves molecules to their proper location within cells, a process known as intracellular trafficking.  Deficits in various aspects of intracellular trafficking are now recognized as causative in other neurological disorders, ranging from rare disorders such as Huntington’s Disease to common disorders such as Alzheimer’s Disease. 

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