Research into speech and language skills in individuals with Kleefstra syndrome: an international study

Murdoch Children’s Research Institute are running a project looking at speech & language in individuals with Kleefstra Syndrome.

By improving the understanding of speech & language abilities, we hope to improve prognoses, better identify individuals in need of speech therapy, and develop more targeted therapies.

We are looking for individuals:

• confirmed to have Kleefstra Syndrome by a genetic test
• aged 6 months – adulthood
• who are verbal or non-verbal
• who speak English, German, Dutch, Italian, French, Portugese, Spanish

What is involved?

• Emailing us to express interest at: angela.morgan@mcri.edu.au
• Completing an online survey of speech and language skills, survey of health & medical history, provision of an speech sample where individuals are able
• English-speakers will also be assessed via video-conference

About

The Centre of Research Excellence in Speech and Language at the Murdoch Children’s Research Institute examines speech and language in individuals with rare genetic conditions. They are trying to better understand the strengths and difficulties of communication in children with rare genetics syndromes. Their longer-term aim is to help develop better targeted therapies.

Get in touch

If you or someone you know may be interested in helping with this research they would love to hear from you, please email Prof Angela Morgan at angela.morgan@mcri.edu.au

UPDATE 14/11/22:

The speech & language study has had a good level of interest and researchers are still looking for individuals with Kleefstra syndrome to take part – do get in touch with them.

Since launching the study at the end of June 2022, they have almost 60 participants with Kleefstra syndrome who have either completed or are at some stage through the surveys/video call, with more starting out. The youngest participant so far is 8 months, the oldest is 35 years old, and from a spread of countries:

Please read the full details at the top of the page and contact Prof Angela Morgan at angela.morgan@mcri.edu.au to find out more about taking part.

UPDATE February 2024:

The research has been published! Read more here.