Benefits, Barriers to Batten Disease Telehealth Care Described in Study

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by Steve Bryson, PhD |

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The benefits of using telehealth services for people with rare conditions, such as Batten disease, include convenience, cost savings, improved access, and the ability to see multiple providers, according to a recent review study.

But limitations persist and will need to be considered in order to implement services. These include improving clinicians and organizations’ familiarity with telehealth, insurance coverage, security of patients’ information, and training telehealth providers. Using equipment and internet connectivity were also named as limitations to providers’ adopting telehealth services.

Also, the effectiveness of telehealth services to in-person care will need to be studied, with a focus on patients’ experience, disease outcomes, and costs, the researchers noted.

The review study, “Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases,” was published in Therapeutic Advances in Rare Disease.

The report, by researchers at the Nationwide Children’s Hospital, Child Development Center, Ohio, sought to review the benefits and barriers of telehealth services to rare disease patients, describe the clinical care components that use telehealth services for Batten patients, and discuss telehealth’s limitations and possibilities.

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The team reviewed the current literature on the delivery of telehealth services between 2010 and 2021.

Batten disease refers to a group of rare inherited neurological conditions that can cause progressive motor and cognitive decline, vision loss, and seizures.

Its treatment includes symptom management and palliative care by a multidisciplinary team of healthcare providers and, often, rehabilitation treatment programs to help improve and maintain developmental skills, physical health, and quality of life.

As a result of the ongoing COVID-19 pandemic, telehealth services — electronic information and telecommunication technologies to support long-distance clinical healthcare — have been essential in delivering care, such as assessments, treatments, and coordination services, especially for rare conditions like Batten, the study notes.

The researchers said that a primary barrier to clinical care access for rare disease patients is the lack of interventional clinical trials that enroll them. Out of 24,000 trials, 11.5% were rare disease trials.

“Research guides clinical practice; therefore, it is alarming and unfortunate that individuals with rare diseases are underrepresented in clinical research trials,” they wrote.

Other barriers included a lack of local resources, difficulties getting an accurate diagnosis, a lack of knowledge among providers about rare disease causes and treatment, and caregiver stress and isolation, they said.

“Local healthcare providers in remote areas likely have not had exposure to, let alone training on, diagnosis or treatment of rare diseases,” the researchers said.

The study cited telemedicine as an effective way to deliver care because it was convenient for patients and could help reduce costs spent at emergency visits. Telehealth also lets patients meet with providers who might be too far away and allows patients with physical limitations or health considerations to meet with a health professional, the study notes.

Telemedicine also lets teams of specialists in different locations coordinate and provide care and improves real-time provider-to-provider communication. The report notes that 87% of providers indicated “continuity of care” as a benefit of video visits. Telehealth services can also speed up diagnosis and treatments, and help keep infectious diseases from spreading in a pandemic, the researchers said.

However, the study indicated that the burden of integrating telehealth services could be a barrier to clinicians and associated organizations adopting them.

“It can be difficult for organizations to restructure appointments and services offered as standard of care into a telehealth format,” the researchers said. “The integration of telehealth services into a healthcare system may require additional workflows and responsibilities. There may be a need for additional staff with training of specific skillsets in telehealth.

The researchers also noted that telehealth services might not be covered by insurance and emphasized the importance of protecting patient information when using telemedicine platforms.

Nevertheless, the researchers said organizations should consider integrating telehealth services into patients’ electronic medical record so multiple providers could be present at appointments and access patient information, scheduling, and insurance information.

Another consideration is training and licensing of providers in different locations, as laws may vary from state to state that could impact clinical practice, and specialized training would be needed to deliver telehealth services across different regions, they said.

Another challenge for telemedicine, according to the study, is that people with Batten disease and other rare conditions with unique physical and medical needs would still require routine in-person physical exams, imaging services, and laboratory work to monitor treatment outcomes and prevent progression.

In Batten disease, children and young adults are typically managed by a multidisciplinary neurology clinic, including medical care, quality of life, family support, and end-of-life care. Regular cognitive assessments are necessary to monitor regression, given the degenerative nature of Batten.

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The study notes that services such as developmental monitoring, therapies, and medication consultations can be managed partially or entirely through telehealth. Also, developmental skills can be assessed using caregiver questionnaires and interviews, as well as specific cognitive and neuropsychological measures, but other direct medical interventions or laboratory work cannot be.

Researchers noted that direct therapy over telehealth may be challenging depending on the child’s developmental level or medical complications and that parent-mediated intervention may be an option because parent treatment models have been found to be effective at increasing a child’s learning.

The report also notes that logistical factors, including equipment and internet/connectivity, need to be considered with telehealth services because their absence, or the lack of patients’ technical expertise, could worsen healthcare disparities.

The researchers said healthcare systems need to consider implementing standardized methods that apply telehealth to provide services to rare disease patients.. This means all health professionals should receive appropriate education and training in telemedicine, introduce telehealth accreditation, provide funding to cover telehealth costs, and redesign clinical care models.

Finally, the researchers said more studies are needed to compare the effectiveness of telehealth services with standard-of-care or specialized services provided by in-person visits, with outcomes including costs, patient experiences, disease outcomes, and feasibility. Focus should also be given on reducing barriers and the practical use of telehealth technologies.

“Telehealth continues to be a promising avenue to deliver effective and efficient clinical services to diverse patient populations, such as those with rare diseases,” the researchers wrote.