Speech Tracker: Research into speech & Language development over time in individuals with SETBP1 variants

SPEECH TRACKER: SETBP1 haploinsufficiency disorder Speech & Language Study

MCRI

Enrollment for our second international SETBP1 haploinsufficiency disorder speech and language study has closed!! This study builds on a previous SETBP1 study showing that speech and language is a core developmental challenge for children with SETBP1 haploinsufficiency disorder. In this new study, the speech team at the Murdoch Children’s Research Institute are examining speech and language over time. This data will help all of us better understand prognosis and help develop more targeted speech therapies for individuals with SETBP1 haploinsufficiency disorder.

What was involved?

    • Complete brief online surveys of language skills once a year (families who participated in the first SETBP1 speech and language study will be linked to this study and will have less surveys to complete).
    • Complete a quick 15 minute speech task from home 3x a year.

Who led the study?


Prof. Angela Morgan PhD
NHMRC Practitioner Fellow
Lead, Speech & Language Group
Murdoch Children’s Research Institute (MCRI)
University of Melbourne

Who are the speech and language group at Murdoch Children’s Research Institute (MCRI)?

  • Group in Melbourne Australia who focus on speech & language in children with genetic conditions
  • Study speech & language profiles to improve diagnosis, prognosis & develop more targeted therapies
  • Focus on clinically based speech pathology examinations to lead to direct clinical recommendations & treatments
  • Also work with basic scientists on gene discovery, animal models of speech outcome & pharmacological trials

The languages supported in addition to English include:

    • Dutch
    • German
    • Spanish
    • Italian
    • French
    • Portugese

LISTEN to Dr Angela Morgan talk about results from the first SETBP1 study and research.