Specialty clinic maps lifelong care needs for Angelman syndrome

A team of experts from a first-of-its-kind specialty clinic in Canada has published a paper detailing the many ways Angelman syndrome affects the lives of patients who have received care at their center.

“This multidisciplinary clinic cohort highlights the complex medical, developmental, and behavioral needs of individuals with Angelman syndrome across the lifespan,” the team wrote.

An early-access version of the paper, “Multidisciplinary care for Angelman syndrome: clinical characteristics and parent perspectives from a Canadian specialty clinic,” was published in the Journal of Neurodevelopmental Disorders.

Angelman syndrome is caused by mutations in the copy of the UBE3A gene inherited from a person’s biological mother; the most common type of AS-causing mutation is a microchromosomal deletion, in which the chunk of DNA that contains this gene is missing.

Angelman causes developmental abnormalities and affects all aspects of a person’s day-to-day life. People with the disease usually require specialized care to manage it.

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The Children’s Hospital of Eastern Ontario (CHEO)’s Angelman Syndrome Clinic, the first of its kind in Canada, was established in 2016 to offer multidisciplinary specialized care to people with Angelman and their families.

A team of scientists from the clinic looked at patients who received care at the center from its inception to 2023, aiming “to characterize a broad range of medical, developmental, behavioral, and educational characteristics within a Canadian context, including educational settings, access to developmental and therapeutic services, and parent-identified priorities for multidisciplinary care,” they wrote.

The study involved 71 patients, most of whom were young children. Most of these patients lived in Ontario with their families. Most school-aged children were in special education programs, while adults were mostly in day programs. About two-thirds (61.9%) of the patients had a deletion mutation, and these patients were typically diagnosed with Angelman at an earlier age.

Study data were gathered directly from parents, who completed structured questionnaires and clinical interviews regarding their children’s care and daily challenges.

When parents were asked about their goals for clinical visits, the most common answer was to address behavior, especially among caregivers of older patients. Help with communication and sleep were also common goals.

Caregivers generally reported high satisfaction with the clinic itself. “High levels of parent satisfaction support the value of a specialized [Angelman] clinic, while incorporating family feedback can help ensure services remain responsive and aligned with their needs and priorities,” the researchers wrote.

The researchers detailed issues common among Angelman families across various aspects of health, from dental care to behavioral health. This revealed many commonly reported issues; for example, most patients had abnormal drooling and chewing. Sleep problems, such as difficulty falling asleep or waking unusually early, were also common, as were digestive complaints such as constipation and acid reflux.

Seizures were also common, especially among patients with deletion mutations: About three-quarters of patients with deletions had active seizures, compared with about half of those with other mutations. Patients with deletion mutations were also less likely to walk or speak in words compared with patients carrying other types of mutations, the researchers noted.

In addition to mutation type, outcomes varied by age. For instance, caregivers of school-aged kids with Angelman were more likely to report problems with aggressive behavior than parents of toddlers with the syndrome. Older children and adults were also more likely to be able to walk and use a toilet than preschool-aged patients.

The findings highlight the varied and complex ways in which Angelman can impact the lives of people living with it, the researchers said. The fact that disease features tend to vary by mutation type and change with age underscores the importance of individualized care that continually adapts to meet changing needs as a patient grows, they said.