Health-Related Quality of Life in Patients with MPS II

作者：Needham Mary; Packman Wendy^*; Quinn Natasha; Rappoport Maxwell; Aoki Christa; Bostrom Alan; Cordova Matthew; Macias Sandra; Morgan Cynthia; Packman Seymour

来源：Journal of Genetic Counseling, 2015, 24(4): 635-644.

DOI：10.1007/s10897-014-9791-7

• MPS II
• Hunter syndrome
• Quality of life
• HRQOL
• Psychology

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a chronic and progressive X-linked lysosomal disease that mainly affects males. The National MPS Society (2013) reports that MPS II affects 1 in 100,000 to 1 in 150,000 males worldwide. Two distinct forms of the disease are based on age of onset and clinical course: attenuated and severe. MPS II affects many organ systems including the nervous, cardiovascular, gastrointestinal and respiratory systems. Clinical manifestations can include progressive hearing loss, mental impairment, and enlarged liver and spleen. This study focuses on the health-related quality of life of individuals (HRQOL) with MPS II as measured by the parent and self-report versions of the Pediatric Quality of Life Inventory (PedsQL (TM)). Both parents of patients with MPS II as well as patients themselves reported lower scores on all domains of the PedsQL (TM) (physical, emotional, social and school functioning) indicating that children with MPS II have an overall lower HRQOL when compared to a healthy sample. When compared with patients with other chronic illnesses (cancer, MSUD, galactosemia,), the MPS II sample had significantly lower scores on a number of PedsQL (TM) scales, suggesting an overall lower HRQOL. No significant relationships were found using scores from parent or self report PedsQL (TM) measures and length of time on ERT.

• 出版日期2015-8