# Developmental stuttering: Population-based genetic discovery

> **NIH NIH R01** · VANDERBILT UNIVERSITY MEDICAL CENTER · 2020 · $700,310

## Abstract

ABSTRACT
Stuttering is a developmental speech disorder that has one of the highest familial recurrence rates among
communication disorders with complex inheritance. While worldwide population prevalence of persistent
developmental stuttering is 1%, and 5-6% of children stutter developmentally, an increased prevalence of
stuttering (11-14%) has been reported in children in Australia. Genes associated with risk of the disorder have
yet to be identified in the non-consanguineous general population; few studies have been conducted on the
genetic susceptibility of developmental stuttering, each focusing on families from genetic isolates with high
levels of consanguinity. Large-scale, well-powered, population-based studies have not yet been undertaken to
detect genomic variants associated with stuttering risk, and as a result extremely little is known about the
molecular underpinnings of developmental stuttering. To address this gap in knowledge we propose the follow
specific aims. Aim 1) We will build on our existing research program by collecting an additional 2,000 saliva
samples from participants diagnosed with developmental stuttering who receive treatment from globally
recognized stuttering centers located in England, Australia, Ireland, and the USA. We will also collect through
an innovative social media recruitment campaign bringing our total sample of developmental stuttering cases
to 3,000. All participants will have diagnoses confirmed by specialists trained in speech and language
pathology, dense phenotypic data recorded detailing severity and case history of developmental stuttering, and
will be included in genetic analyses utilizing two primary approaches. Aim 2) First, Multi-Ethnic Genotyping
Arrays (MEGA) will capture over 2 million variants, providing a genome-wide backbone that will be imputed to
the latest whole genome reference panel in all samples, allowing for robust tests of common variant
association genome-wide, and second, Aim 3) whole exome sequencing will be performed to selectively
capture variation within all protein-coding genes, providing an ideal portrait of the genic regions that are
disproportionately burdened with rare and functional variation. A minimum of 5,000 population-based ancestry-
matched controls with no known history of speech and language impairment will be selected from Vanderbilt
University's BioVU DNA databank as well as the Atherosclerosis Risk in Communities (ARIC) Study. Joint
recalling and analysis using these control datasets will power our comprehensive genetic analyses of
recovered and persistent developmental stuttering, generating an extremely rich, public resource of results for
future genetic, functional, and translational studies. Aim 4) We will identify an additional 1,000 developmental
speech disorder cases and 1,000 ancestry-matched controls via electronic medical records in BioVU for
replication of top findings. Together, these complementary approaches will lead to identification and va...

## Key facts

- **NIH application ID:** 9982908
- **Project number:** 5R01DC017175-03
- **Recipient organization:** VANDERBILT UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** Jennifer Below
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $700,310
- **Award type:** 5
- **Project period:** 2018-08-01 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9982908

## Citation

> US National Institutes of Health, RePORTER application 9982908, Developmental stuttering: Population-based genetic discovery (5R01DC017175-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9982908. Licensed CC0.

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