Mucopolysaccharidosis: Caregiver Quality of Life

ABSTRACT

Abstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and friends. Aims: To evaluate the QoL of caregivers of patients with MPS. Methods: Cross-sectional study using a convenience sampling strategy. The sample comprised mothers of patients with MPS seen at the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil. The World Health Organization Quality of Life Assessment (WHOQOL-BREF) was used to assess QoL. Results: Eleven mothers of 12 patients with MPS (MPS-I = 1; MPS-II = 3; MPS-III = 3; MPS-IV = 4; and MPS-VI = 1) were included. The average WHOQOL-BREF score was 46.59, with the physical health domain scoring highest and the environmental domain scoring lowest. The lower QoL of mothers of children with MPS-II seems to be related to the worse clinical condition of these children, with more severe symptoms and greater need for help with daily activities as well as with a feeling of responsibility due to the inheritance pattern of the disease.