Communication: an unmet need in patient care
A person with Sanfilippo syndrome experiences progressive neurodegeneration and the gradual loss of motor and language skills. This affects everyday life for the individual, their carers, and their family.
For a person with Sanfilippo, communication difficulties may lead to distress and contribute to behavioural symptoms, or even lead to unnecessary procedures and unmanaged pain.
Addressing communication issues has been identified by parents as an essential and unmet need. In one study evaluating parents’ experiences of Sanfilippo, parents said that the difficulty in understanding their children’s needs led to a considerable burden for the whole family, with feelings of helplessness and distress.
While tools are available to help families and carers communicate with people affected by Sanfilippo, these are best initiated and monitored by trained speech pathologist professionals. These include augmentative and alternative communication (AAC) methods, which are recommended in the Consensus Guidelines for Clinical Care of Sanfilippo.
AAC involves any non-speech method to communicate. Many AAC methods are available, and the best option may depend on the individual and their needs and abilities.
One recently published case report has shown the potential of AAC to improve communication in Sanfilippo. It details how a team of speech pathologists implemented an eye-gaze board (a low-tech AAC system) into the daily life of a 22-year-old non-verbal adult with Sanfilippo type A. Previously, the individual could answer yes/no questions via eye-blink responses. With the use of AAC, they answered more of the caregivers’ questions and could answer a greater variety of questions.
While the report’s results are promising, further research into the most effective ways to aid communication in Sanfilippo is much needed. Research into speech and communication has the potential to improve the care of all people with Sanfilippo.
New Research Study into Speech And Language in Sanfilippo syndrome
A study is underway, led by researchers at Murdoch Children's Research Institute (MCRI) and The University of Melbourne, and recruiting families internationally. It aims to better understand how speech and language are affected in Sanfilippo.
By participating, families and individuals with Sanfilippo could help inform practices by speech pathologists around the world, to improve the lives of people affected by the disease.
Advancing knowledge and understanding of Sanfilippo in the speech pathology field may help increase referrals for earlier diagnosis. It’s also possible that speech and communication could be used as functional outcomes in clinical trials to help get therapies to patients.
To find out more about the study, see: https://www.sanfilippo.org.au/blog/study-into-speech-and-language-in-sanfilippo
To participate in the study, email geneticsofspeech@mcri.edu.au or record your Expression of Interest via https://redcap.link/Speechgenetics
