3 documents found, page 1 of 1
Rare disease associations in Portugal: an importante source of psychosocial sup...
Costa, Catarina; Alonso, Isabel; Sequeiros, Jorge; Paneque, MilenaThis study aimed to characterize the development of Portuguese patient associations, mostly on rare diseases, as a relevant source of psychosocial support for patients and their families. Participants represented 23 patients’ associations or delegations, with which interviews were carried out. Recordings were transcribed and analyzed using the thematic analysis method. Three conceptual categories emerged in the...
Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological ...
Paneque, Milena; Félix, Joana; Mendes, Álvaro; Lemos, Carolina; Lêdo, Susana; Silva, João; Sequeiros, JorgeIntroduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington’s disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of th...
Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a ...
Paneque, Milena; Costa, Catarina; Lemos, Carolina; Alves-Ferreira, Miguel; Sequeiros, Jorge; Lemos, Marina SerraIntroduction: The lack of tools for quality assessment of genetic counselling is recognized in national and international studies. The correlation of quality of healthcare practice with greater satisfaction of patients and affected families is also well established. The present study describes the development and validation of the first Portuguese scale for quality assessment of genetic counselling practice. It...