KS Speech Study Results Being Analyzed

Professor Angela Morgan leads the speech and language group at the Murdoch Children’s Research Institute in Melbourne, Australia. Over the past decade she has built a team focused on understanding and supporting communication abilities for individuals with rare genetic conditions. Lottie Morison is a PhD candidate and speech pathologist in the speech and language group who is leading the Kleefstra Syndrome study as part of her doctoral studies.

The goal of the study is to provide a better understanding of speech and language needs for individuals with Kleefstra Syndrome. In turn, this will empower families and professionals to make more informed decisions to best support speech and language abilities; the most critical skills for social engagement and optimising quality of life.

Professor Tjitske Kleefstra approached the Melbourne-based speech and language team to investigate communication in individuals with Kleefstra Syndrome.

“Tjitske identified that whilst communication challenges are a core feature of Kleefstra Syndrome, we know little about what speech and language looks like in Kleefstra Syndrome,” says Morison. “Understanding speech and language in Kleefstra Syndrome informs the most appropriate supports for individuals and their families, including identifying the most appropriate communication therapies.”

Since July 2022, more than 100 children, adolescents, and adults with KS have taken part in the study. The study is run online allowing for a global approach. Families from 25 countries have taken part.

“We have been incredibly fortunate to receive overwhelming support from the Kleefstra Syndrome community,” said Morison. “The large number of participants with Kleefstra Syndrome has enabled us to delve deeper into communication strengths and challenges of communication, both at an individual level and across the entire group.”

The study is currently closed to new participants while the research team brings together the results. The researchers say the findings will provide invaluable insights which will be shared directly with the Kleefstra Syndrome community.