A liminal stage after predictive testing for Huntington disease
| Autor: | Marcela Gargiulo, Sophie Tezenas du Montcel, Marie France Jutras, Ariane Herson, Cecile Cazeneuve, Alexandra Durr |
|---|---|
| Přispěvatelé: | Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) |
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Pediatrics Neurology [SHS.PSY]Humanities and Social Sciences/Psychology Signs and symptoms Disease 030105 genetics & heredity Severity of Illness Index Cohort Studies Diagnostic Self Evaluation 03 medical and health sciences 0302 clinical medicine Mutation Carrier Rating scale Surveys and Questionnaires Genetics Humans Medicine Genetic Predisposition to Disease Genetic Testing Age of Onset Predictive testing Pathological Genetics (clinical) Disease burden Aged business.industry Middle Aged Huntington Disease Female [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Medical Genetics Journal of Medical Genetics, 2017, 54, pp.544-549. ⟨10.1136/jmedgenet-2016-104199⟩ |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | International audience; Background Following predictive testing for Huntington disease (HD), knowledge of one’s carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge influence self-awareness and allow carriers to identify signs and symptoms of disease onset?Methods Between 2012 and 2015, 75 HD mutation carriers were examined using the Unified Huntington’s Disease Rating Scale (UHDRS) motor score. Onset estimation made with the disease burden score was compared with UHDRS findings. We collected qualitative data with questionnaires and semistructured interviews. Results 38 women and 37 men, aged 43.7 years ±10.5 (20–68), were interviewed after a mean delay between test and study interview of 10.5 years±4.7 (from 4 to 21 years). Estimation of age at onset was 4.5 ±8.5 years earlier than data-derived age at onset. Participants were categorised according to their motor score: scores 5 were manifest carriers (n=40). Self-observation was a major preoccupation for all, independent of their clinical status (82% vs 74%, p=0.57). Among manifest carriers, 56% thought they showed symptoms, but only 33% felt ill. Interestingly, this was also observed in those without motor signs (20% and 9%). Being a mutation carrier did not significantly facilitate recognition of motor signs. Interviews with premanifest carriers allowed the burden of self-observation to be illustrated despite lack of motorsigns. Conclusions Estimating age at onset based on disease burden score may not be accurate. The transition to disease was experienced as an ambiguous or liminal experience. The view of mutation carriers is not always concordant with medical onset estimation, highlighting the difficulties involved in the concept of onset and its use as an outcome in future disease-modifying trials. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|