SETBP1 haploinsufficiency disorder considered a strong candidate as a speech and language disorder

Austin, TX — November 2, 2021 – Childhood Apraxia of Speech (CAS) is a motor speech disorder that makes it difficult for children to speak and may occur as a result of a genetic change. In fact, 1 in 3 children have a genetic reason for their CAS. In January of 2020, Professor Angela Morgan and her team at the Murdoch Children’s Research Institute (MCRI) opened up a study to better understand CAS for those impacted by a SETBP1 variant and further explore the genetic link to CAS.

The goal of this study was to better understand the speech and language abilities of those impacted by a SETBP1 loss-of-function mutation, which causes SETBP1 haploinsuffficiency disorder (SETBP1-HD), and as a result, be able to improve prognosis, better identify those in need of speech therapy and be able to develop more targeted speech therapies for those impacted. The research consisted of families with children diagnosed with SETBP1-HD, who opted-in and completed a number of clinical surveys. Professor Morgan’s team then conducted a 1-hour video conference with the candidate and their caregivers, wherever possible, to both observe and gather additional context for that family’s experience. The team then analyzed and delivered their findings directly back to the family in an effort to improve that child’s communication hurdles.

This study has since been closed and resulted in the publication, Speech and language deficits are central to SETBP1 haploinsufficiency disorder. This paper directly recommends that SETBP1-HD be recognized as commonly causing a speech and language disorder and those diagnosed should be enrolled in speech therapy as early as their first year of life. Professor Morgan has just launched a new 3 year study to track the speech and language skills of individuals with SETBP1-HD. When asked how Professor Morgan sees her studies impacting the future of SETBP1 research she shared, “When new therapies, such as drugs, are developed, they are first tested in clinical trials. This study will develop speech outcome measures for use in clinical trials, to test how effective new therapies may be for improving speech. Meaning that when new therapies are developed, the SETBP1 community is prepared when it comes to testing their efficacy and moving the field forward.”

Haley Oyler, serving as President of SETBP1 Society but also a mother of a child living with SETBP1-HD, shared in her recent blog post, “Our hope is that publications like this one make it easier for our families to access the therapies they need including targeted speech and language therapy and for insurance to cover the therapy, which can be a challenge our families face.”

For more information about the SETBP1 Society: https://www.setbp1.org

View the full “Speech and language deficits are central to SETBP1 haploinsufficiency disorder” publication here.

Learn more about Professor Morgan: https://www.mcri.edu.au/users/prof-angela-morgan

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org