Clinicians lack awareness of Usher syndrome’s vestibular impacts and key aspects of care, highlighting the need for targeted education.
“As Usher syndrome involves significant impairments in vision, hearing and, in some cases, vestibular function, best-practice treatment and therapy require not only condition-informed care from individual practitioners but also appropriate referral to clinicians of other disciplines,” Lauren N. Ayton, BOptom, PhD, and colleagues wrote. “Anecdotally, families impacted by Usher syndrome report a lack of awareness of the condition and its impact on multiple senses, even amongst allied health clinicians who have a role in treating the major sensory impacts of Usher syndrome [ie, hearing and vision]. This limits timely access to appropriate multidisciplinary care, which is essential for Usher syndrome, as many of the symptoms are best managed with early intervention (for example, vestibular therapy, mobility training, and cochlear implantation). In addition, poor knowledge of the condition within the healthcare system is a barrier to the recommended best practices of patient or family-centered care for early intervention of conditions such as Usher syndrome.”
The researchers conducted a prospective cross-sectional online survey of optometrists, orthoptists, and other healthcare professionals to assess their awareness of key aspects of the condition. The clinicians who participated in the study—including optometrists and orthoptists—practiced in an Australian university teaching clinic for an average of 13 years. The mixed-methods survey was based on previous literature, clinician experience, and lived family/carer experience. It included nine demographic questions and nine questions about the cause of Usher syndrome, the senses impacted, common sequelae, and the involvement of healthcare clinicians in management.
“One of the key things we heard from parents at a charity for Usher syndrome was that they had to teach clinicians about the condition before management could even begin,” says Dr. Ayton. “That was the impetus for our survey of vision and hearing professionals, which was a collaboration between academics and those with lived experience, supported by Melbourne Disability Institute.”
The Australian Survey
Published in The Journal of Multidisciplinary Healthcare, the results showed that most of the respondents knew about Usher syndrome’s genetic origins. Surprisingly, however, few recognized that it may result in vestibular dysfunction and adversely affect a patient’s motor development, school performance, and ability to live independently
“There was a greater awareness of the vestibular dysfunction in the vision-related professions, but overall, a very poor appreciation of the risk of gross motor delay in children with Usher syndrome,” says Dr. Ayton. “This survey highlights the gaps in knowledge about the impacts of the condition and the complex healthcare needs of these individuals.”
Most respondents (86%) correctly identified Usher syndrome as a genetic condition, at least two of the affected senses (97%), and the progressive nature of vision and hearing losses (<90%). Only 43% and 51% of respondents, respectively, recognized that gross motor delay and postural instability were characteristics of Usher syndrome. Optometrists or orthoptists were significantly more likely to identify vestibular dysfunction as a feature of the condition.
“There were also gaps in knowledge in the respondents’ own professional management and in the need for multidisciplinary care,” Dr. Ayton says. “For example, many respondents did not appreciate the key roles that speech pathologists, genetic counselors, and geneticists play in the management of Usher syndrome (Figure).”
Lessons for American Clinicians
The study underscores the need for education about key aspects of Usher syndrome among optometrists and orthoptists, a message that may also resonate with American clinicians. The Australian researchers are developing materials for healthcare professionals about the condition and are investigating the needs of parents of children with Usher syndrome.
“There are excellent support organizations in the United States for physicians, such as the Usher Syndrome Coalition (https://www.usher-syndrome.org),” says Dr. Ayton. “Clinicians, affected individuals, and families also can reach out to us via https://usherkidsaustralia.com.”
