Developmental Stuttering: Population-Based Genetic Discovery

• Research type

  Research Study

• Full title

  Developmental Stuttering: Population-Based Genetic Discovery

• IRAS ID

  271996

• Contact name

  Shelly Jo Kraft

• Contact email

  kraft@wayne.edu

• Sponsor organisation

  Wayne State University

• Duration of Study in the UK

  3 years, 10 months, 31 days

• Research summary

  Developmental stuttering (also known as stammering) is a speech disorder that disrupts the fluency of verbal communication through tension-based speech movements classically characterized by blocks, repetitions, and prolongations. Onset typically occurs between 2-6 years of age and is believed to affect approximately 5-6% of the general population, however some recent studies estimate lifetime incidence rates closer to 11%. Most of these children will stutter for a short time, before either recovering spontaneously or with therapy. In the general population though, 1% of individuals will stutter throughout their lives and into adulthood, despite treatment efforts.
  Little is known about how and why developmental stuttering occurs, although numerous studies suggest a strong genetic influence. While some studies have looked at genetic differences between affected and unaffected people within some families with many cases of developmental stuttering, the genes identified so far have not been significant in the wider population of people who stutter. This leaves the general genetic cause of stuttering still largely unknown.
  This study is collecting saliva samples from unrelated people who stutter from around the world and represents the largest and most comprehensive genetic analysis of stuttering ever performed. Any individual from 2 - 99+ years of age who currently stutters, or has ever stuttered, is eligible to participate in this study. After consenting to participate, a saliva sample of 0.75-2mL will be collected from each individual, or their child who stutters, and a quick questionnaire will be completed with research personnel. With support from the Michael Palin Centre for Stammering Children (London, UK) and other locations in the U.S., Ireland, and Australia, this study aims to enroll, genotype and perform whole-exome sequencing and analysis on a total cohort of 3000 samples from affected individuals, with secondary replication in an additional 1000 cases and 1000 controls.

• REC name

  London - Fulham Research Ethics Committee

• REC reference

  20/LO/0044

• Date of REC Opinion

  19 Feb 2020

• REC opinion

  Unfavourable Opinion