Scholarship to improve quality of life for children with two rare genetic conditions
A Murdoch Children’s Researcher Institute researcher has been awarded a scholarship to help improve the quality of life for children with two rare genetic conditions that cause complex communication problems.
Lottie Morison received the National Health and Medical Research Council (NHMRC) Postgraduate Scholarship for her research which aims to improve the communication and wellbeing of children with Kleefstra Syndrome and Batten Disease, which both cause speech and language disorders.
Kleefstra Syndrome is a rare genetic disorder that causes intellectual disability and is often accompanied by a spectrum of complex physical and clinical features, including severely impaired or absent speech.
Batten Disease (also known as paediatric dementia) is a fatal nervous system condition that causes loss of vision, personality and behaviour changes, slow learning, clumsiness and disordered speech. Individuals with Batten Disease become more impaired as the disease progresses.
Ms Morison will explore the genotype (a person’s genes) and phenotype (a person’s characteristics) to better understand Kleefstra Syndrome and Batten Disease.
She will also investigate the barriers and enablers to alternative communication interventions which support non-speech communication, such as signing.
Approximately 6-10 per cent of Australians live with a genetic condition, and one in five children start school with a speech or language disorder. Many genetic conditions cause severe speech and language disorders, highlighting the importance of further research.
Ms Morison said, “It’s important to understand speech and language disorders in genetic conditions to ensure early diagnosis and effective treatment, as well as answering frequently asked questions from families about how the conditions will impact their child and what they can do to help.
“Once we identify a specific genetic condition, we can implement tailored interventions during the crucial early-childhood language learning period to improve outcomes for these children.”
Ms Morison said the project was the first study of its kind in Kleefstra Syndrome and Batten Disease and would provide insight into these conditions, along with critical diagnostic, prognostic (predicting the likely outlook) and intervention information for families and clinicians.
In addition to the NHMRC Postgraduate Scholarship, Ms Morison was also awarded a $15,000 Mentonians PhD Foundation Award from Mentone Grammar which aims to support alumni in their doctoral studies.
Funding
This project is supported by a National Health and Medical Research Council (NHMRC) Postgraduate Scholarship (ID: 2022156)
* The content of this communication is the sole responsibility of Murdoch Children’s Research Institute and does not reflect the views of the NHMRC.