The objective of this study was to provide normative SF-36 scores in a general population sample in Brazil and to describe differences in mean scores according to socio-demographic characteristics. The SF-36 questionnaire was distributed to a randomly selected sample of the general population of Porto Alegre in the State of Rio Grande do Sul. The response rate was 68% and 755 subjects were included (38% male, 62% female). Lower health status was revealed among females in the 30 to 44 year age bracket, from the lower income class, with less education and self-reported chronic medical conditions. The results and percentiles of scores of the SF-36 are reported as normative data for the general population. The SF-36 was an acceptable and practical instrument for measuring health-related quality of life in a sample of Brazilians. The results of this study can be useful for researchers using the SF-36 questionnaire in other groups to compare the scores with normative data. The SF-36 may prove a valuable tool for discovering vulnerable groups in epidemiological studies due to the ability to discriminate between different population subgroups.

ObjectiveTo describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro).ResultsThree versions of the new instrument were developed, each for a different age group: children (age 8–12 years), adolescents (age 13–17), and adults (age ≥ 18). The FGs mostly confirmed the relevance of items. All FGs unanimously agreed on the facets: School, Happiness, Life Prospects, Religiosity, Pain, Continuity of Treatment, Trust in Treatment, Relationship with Family, Relationship with Healthcare Providers, Acceptance, and Meaning of Life. The overall concept of QoL (as proposed by the WHO—World Health Organization) and its facets apply to this patient population. However, other specific facets—particularly concerning clinical manifestations and the reality of the disease—were suggested, confirming the need for the development of a specific QoL instrument for MPS.Electronic supplementary materialThe online version of this article (10.1186/s13104-018-3157-4) contains supplementary material, which is available to authorized users.