Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Molecular Genetics & Genomic Medicine

Lynne M. Bird¹  Wen‐Hann Tan²  Raquel Cabo³  Nasreen Khan³  Regina Tayag⁴ 

[1] Clinical Genetics/Dysmorphology University of California, San Diego, Rady Children's Hospital San Diego San Diego California;Division of Genetics & Genomics Boston Children's Hospital, Harvard Medical School Boston Massachusetts;Ovid Therapeutics Inc. New York New York;PROMETRIKA, LLC Cambridge Massachusetts;

关键词: healthcare burden;    healthcare costs;    healthcare resource utilization;    medical economics;    supportive therapy utilization;   

DOI  :  10.1002/mgg3.734

来源: DOAJ

【 摘 要 】

Abstract Background The objective of this study is to describe healthcare resource utilization (HRU) and supportive therapy utilization (STU) among individuals with Angelman syndrome (AS), and to compare such usage by molecular etiology. Methods Participants were categorized into deletion and non‐deletion genotypes. Statistical differences were assessed using an independent samples t test. Results Data were available on 302 individuals. Mean age of participants was 5.5 years, 92% of whom were less than 13 years, and 71% had the deletion etiology. About 68% of participants had at least one hospitalization since birth to enrollment in the study; the average number of hospitalizations during that time period was 2.3 and average length of stay was 4.5 days. The most common reasons for hospitalization were seizures, lower respiratory infections, and surgery. The most common reasons for surgery were myringotomy, strabismus surgery, tonsillectomy or adenoidectomy, and gastrostomy tube insertion/fundoplication. Anticonvulsants, gastroesophageal reflux disease, sleep, and behavioral medications were the most commonly prescribed drugs. STU was high among individuals with AS. Conclusions This study shows that individuals with AS have high HRU/STU, and apart from a few differences, HRU/STU was similar across molecular etiology. These results reflect usage in younger individuals and studies that describe HRU/STU in older individuals are needed.

【 授权许可】

Unknown