Health care professionals need more education about Usher syndrome to enable them to provide patients and their families with better care, according to a study completed by The University of Melbourne.
The study was initiated by UsherKids Australia, a parent-led support organisation that aims to empower the Usher community through support, connection, and knowledge. The organisation received a grant from the Melbourne Disability Institute, which connected it to researchers at The University of Melbourne and the Centre for Eye Research Australia. Now it hopes to use the findings to develop further, targeted professional development that will improve the care provided to families.
A Rare Genetic Condition
Usher syndrome is a rare genetic condition that causes deaf-blindness, affecting approximately one in 6,000 people worldwide. This condition involves hearing loss, progressive vision deterioration, and sometimes problems with balance. To ensure the best care for those affected, a team of different healthcare professionals is needed.
The researchers investigated how aware relevant allied health care professionals – specifically audiologists, optometrists, and orthoptists – are of the cause of Usher syndrome, common symptoms, and professionals who play a key role in the care of children with Usher syndrome.
To gather information, they targeted clinicians working in Australian university-affiliated clinics with an online survey. Participants included 27 audiologists, 40 optometrists, and seven orthoptists, with an average age of 37 and around 13 years of clinical experience.
Multi-Disciplinary Care Required
All optometrists and orthoptists correctly identified that Usher syndrome was characterised by vision loss but were less aware that vision loss was congenital (77%). Most were aware that Usher syndrome also involved hearing loss (96%) that was sensorineural (98%).
When compared to audiologists, optometrists and orthoptists were more aware that individuals with Usher syndrome can experience vestibular dysfunction and imbalance, but all professions lacked awareness that postural instability (51%) or gross motor delays (43%) may be present.
Many respondents did not realise the critical roles of speech pathologists, geneticists, and genetic counsellors in the management of Usher syndrome. Furthermore, respondents were often not aware of specific care aspects related to their own discipline.
The researchers found that improving healthcare professionals’ understanding of the balance issues and vision loss experienced by those with Usher syndrome is crucial. It is also essential to help them recognise the valuable roles of different healthcare professionals in multidisciplinary care so that appropriate referrals occur.
Role of Optometrists and Orthoptists
Orthoptists and optometrists play a vital role in the care of children with Usher syndrome.
Optometrists can sometimes be the first eye care professional to diagnose retinitis pigmentosa (RP) in a child. RP, coupled with hearing loss, should flag the possibility of Usher syndrome in children who have not already had genetic testing for this, warranting further investigation.
Orthoptists are instrumental in monitoring a child’s functional vision, making recommendations about accommodations or vision supports when changes in vision occur. They’re also able to provide assistive technology assessments and environmental assessments that enable children with Usher syndrome to improve their access to information and enhance their ability to move around safely in their natural environments. Additionally, it is important for both professionals to refer families on to other appropriate services within a multidisciplinary team approach, if and when appropriate.
The researchers concluded that by increasing awareness and knowledge, healthcare clinicians can support individuals with Usher syndrome and their families more effectively. Future research should focus on developing effective educational tools to enhance awareness among healthcare professionals and improve the quality of care for those living with Usher syndrome.
To read the full publication, visit dovepress.com/getfile.php?fileID=91139.
For more information about UsherKids Australia, visit: usherkidsaustralia.com.