On International Day of Deafblindness, our researchers explain why early identification, improved awareness, and tailored interventions are crucial to achieving the best outcomes for those affected by Usher Syndrome. Usher Syndrome—the leading cause of genetic deafblindness—is a rare condition characterised by hearing loss and progressive vision loss, and can also impact the vestibular system, which helps control balance and gross motor skills. There are three main types of the condition. Symptoms for each appear at different times and with differing levels of severity, but all types lead to deafblindness, a distinct disability that affects many aspects of a person’s life.

Because the progressive loss of vision associated with Usher Syndrome typically occurs much later than hearing loss, many people affected by the condition have been diagnosed as teenagers or adults through clinical and genetic testing. This means their hearing and vision losses have often been supported in isolation, and they may not be included in estimates of how common the condition is. Ultimately, this leads to poor recognition of Ushers and inadequate planning for resources and support.

Dr Sue Silveira, a NextSense Institute researcher and contributing author to the British Journal of Vision Impairment article, Paediatric Usher syndrome: Navigating a Challenging Landscape, describes the impact of a missed diagnosis in childhood.

Sue says that it is essential that service providers who support children and young people who are deaf or hard of hearing are aware of Usher Syndrome and how it may present. A loss of peripheral and night vision are often key indicators worth exploring further. ‘Raising awareness among our staff at NextSense means families are also aware and we can help ensure a child is offered support for both their hearing and vision,’ says Sue.

NextSense physiotherapist Laura Harper—also a contributing author to the journal article—knows firsthand the importance of optimising sensory function as early as possible. Laura works with young clients with a range of sensory disabilities, including deafblindness, to help them learn fundamental early motor skills to improve their balance and mobility skills. She says the benefits of acting early are clear.

'We need to consider the whole child, and their family unit, when we consider the impact of Usher Syndrome,' she says.

While there is currently no cure for Usher Syndrome, diagnosing the condition has become more timely through the introduction of genetic testing in Australia—previously, tests needed to be sent overseas, delaying results. And promising research is underway into gene therapies and other treatments aimed at better understanding and slowing down the disease’s progression.

Usher Syndrome information and resources

Not-for-profit organisation UsherKids Australia has a range of resources and information on their website.

You can hear more from UsherKids Co-founder and Director Emily Shepard on our podcast as she discusses her experience of navigating a complex Usher Syndrome diagnosis for her son, and provides advice for professionals working in early intervention.

About International Day of Deafblindness

International Day of Deafblindness is celebrated each year on 27 June—the anniversary of author, advocate and lecturer Helen Keller’s birthday in 1880. It falls within Deafblind Awareness Week, which falls in the last week of June.