(65) Use of Health Services by People Living with Angelman Syndrome

Background: : Angelman Syndrome (AS) is a rare genetic leukodystrophy affecting people of all ages. The prevalence is suspected to be 1 in 15,000 live births in the United States. While there have been previous reports of the cost of care, the burden to the health care system, and, ultimately, families, is not fully understood.

Objective: : The objective of this study was to characterize the economic burden of medical care, in terms of dollars expended and frequency of health service utilization for people living with AS.

Methods: : A retrospective cohort study was conducted using Komodo Health claims. Patients with AS were identified based upon two claims at least 30 days apart between January 2021 and December 2023 with an ICD-10 code of Q93.51. Patient characteristics and direct healthcare costs are reported for each calendar year. Costs were adjusted to 2024 US dollars using the Consumer Price Index for Medical Care. Health care utilization is described for inpatient, emergency room visits, and outpatient services. We also provide some demographic description. We report charges for 2023 and 2024. Utilization is reported only for 2023 due to completeness of data.

Results: : 1,109, 1,119, and 1,010 people living with AS were identified in 2021, 2022 and 2023 respectively. They were, on average, 19 years of age, 52% were male, and 50% were Medicaid beneficiaries. The most common comorbidities were seizures (76%), respiratory complications (36%), gastrointestinal disorders (41%), movement and mobility disorders (31%), sleep disorders (28%), and scoliosis (12%). Average total costs per person ranged from $33,989 in 2021 to $41,281 in 2023. In 2023, 14.6% of people with AS were hospitalized for at least one day and 38% made at least one visit to the ER during the year with approximately 1/4 of those visits resulting in an inpatient admission. Of those with an inpatient visit, 36% included a stay in the ICU. The mean length of stay in the hospital was 11 days, the median was 5 days. Home health services were used by 52% of people with AS, and nearly 100% used outpatient and pharmacy services.

Conclusions: : People living with Angelman Syndrome make substantial use of health services. The average annual cost in excess of $35,000 represents a substantial cost to payers and the health system, but this cost represents but a fraction of the burden of AS to caregivers, families and society.

Sponsorship:: Ionis Pharmaceuticals