Long-term negative psychological impact of presymptomatic testing for Huntington Disease

Ângela Maria Teixeira Leite, Maria Alzira Pimenta Dinis, Susana Maria Lêdo da Silva Pinto, Ana Manuela Baldaia de Carvalho Pinto, Hélder Fernando Pedrosa E Sousa

Resultado de pesquisarevisão de pares

11 Transferências (Pure)


Presymptomatic Testing (PST) for Huntington’s disease (HD) is available since 1986 and its impact on carriers and non-carriers is not yet fully clear. It is important to understand its psychological impact so that the PST protocols are best suited to the subjects at-risk. Preventing a negative psychological impact is the ultimate purpose of the genetic counselling process. This study addresses the long-term negative psychological impact assessment of PST for HD. The sample consisted of 29 subjects that were 50% at-risk for HD, and had performed the PST for at least three years ago. Participants answered the sociodemographic questionnaire and the Brief Symptom Inventory, the Zung Self-Rating Anxiety Scale, and the Beck Depression Inventory. Although most of the sample does not present clinically significant psychopathology values, 6 subjects present a Positive Symptoms Distress Index value which is equal to or greater than 1.7; 7 subjects present a value which is equal to or greater than 40 of anxiety; and 7 subjects present mild depression. Symptomatic carriers, who underwent the PST less time ago, present worse psychopathological symptoms, depression and anxiety. Subjects with this profile should have a more intense and personalized psychological and social support, aiming to prevent the risk of suicide and to improve the quality of their lives.
Idioma originalEnglish
Número de páginas9
RevistaJournal of Health, Medicine and Nursing
Estado da publicaçãoPublicado - 2017
Publicado externamenteSim

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