Browsing by Author "Sequeiros, Jorge"
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- Depression as the Middle- and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders: La Depresión como el Indicador de Impacto Psicológico a la Media y Largo Plazo de la Prueba Pre-Sintomática para Enfermedades de Aparición Tardía - A Depressão como Indicador do Impacto Psicológico a Médio e Longo Prazo do Teste Pré-Sintomático de Doenças Neurodegenerativas de Início TardioPublication . Lêdo, Susana; Leite, Angela; Souto, Teresa; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeThis cross-sectional study investigated depression as the middle- (4 years) and long-term (7 and 10 years) psychological impact of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloidotic polyneuropathy (FAP) TTR V30M. It included 203 subjects: 170 (83.7%) underwent the PST for FAP, 29 (14.3%) for HD and 4 (2%) for MJD. Of these 203, 73 were still asymptomatic carriers, 29 (14.5%) were symptomatic, 9 (4.5%) were FAP liver transplanted patients and 89 (44.5%) were non-carriers. Subjects were mainly women (58.1%) and married (66.5%). The Beck Depression Inventory (BDI) was used to evaluate depression. Scores were higher for symptomatic carriers and for those who have made one or more psychological support consultations over the years. For the formers, the mean scores pointed to mild depression. Asymptomatic carriers and non-carriers had similar scores but it was impossible to differentiate the psychological impact between the medium and long-term. For symptomatic carriers, there were significant differences between the middle- and long-term. The study indicates that depression occurs only when subjects had previously manifested the first symptoms of their neurologic disease.
- Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseasesPublication . Leite, Ângela; Dinis, Maria Alzira Pimenta; Sequeiros, Jorge; Paúl, ConstançaThis study addresses the relation between illness representations, knowledge and motivation to perform the presymptomatic testing (PST) of subjects at-risk for Familial Amyloydotic Polyneuropathy (FAP), Huntington's disease (HD) and Machado-Joseph disease (MJD), compared with subjects at-risk for Hereditary Hemochromatosis (HH). The sample comprised a clinical group of 213 subjects at genetic risk for FAP, HD and MJD, and a comparison group of 31 subjects at genetic risk for HH, that answered three open-ended questions relating illness representations, knowledge about the disease, and motivation to perform PST. People at-risk for FAP, HD and MJD use more metaphors, make more references to the family, are more concerned with the future and feel more out of curiosity and to learn, than for HH. These subjects at-risk correspond to the profile of somatic individual or personhood, wherein the unsubjectivation of the disease can function as a coping mechanism.
- Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseasesPublication . Lêdo, Susana; Ramires, Ana; Leite, Ângela; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeThis longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met). 196 clinical records of persons who performed PST at least three years ago and answered to the two stages of evaluation (before PST and least 3 years after disclosure of results) were analysed. For this purpose, regression analysis was performed, showing that the Positive Symptom Distress Index (PSDI), psychoticism, somatization and paranoid ideation dimensions assume predictive value in the middle and long-term impact for total anxiety and PSDI. The result of PST was not a relevant predictor. The application of an evaluation instrument of various psychopathological dimensions played a fundamental role in the detection of clinical situations that may arise several years later after PST. Attention should be paid to providing psychological support to persons at-risk who, at the pre-test phase, present some psychopathology indices before pursuing with genetic testing.
- Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathyPublication . Lêdo, Susana; Leite, Ângela; Souto, Teresa; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeOBJECTIVE: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders - Huntington's disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M - in a Portuguese sample. METHODS: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). RESULTS: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. CONCLUSION: Although it was not possible to differentiate between the mid- and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.
- Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseasesPublication . Leite, Ángela; Dinis, Maria Alzira Pimenta; Sequeiros, Jorge; Paúl, ConstançaThe role of the clinical psychologist in the context of genetic counseling includes support for the process of decision-making for subjects at-risk, regardless of the decision that was made. For this, it is important to know the motivations behind these decisions. What may be considered advantageous and justifiable reasons to perform the PST for genetic diseases from the medical and public point of view, i.e., planning for the future, helping in the choice of a profession, family planning, improving quality of life and contributing to health, may not be recognized as such by the individual seeking the PST. This study addresses the motivation to perform the presymptomatic testing (PST) of subjects at-risk for 3 diseases, Familial Amyloid Polyneuropathy (FAP), Huntington's disease (HD) and Machado-Joseph disease (MJD), compared with the motivation to perform the PST for Hemochromatosis (HH). FAP, HD and MJD are three genetic (monogenic) autosomal dominant late-onset diseases (LONDs) with no cure. FAP is a progressive sensorimotor and autonomic neuropathy of adulthood. HD is characterized by a triad of clinical symptoms of chorea (motor, cognitive and psychiatric symptoms), emotional distress and cognitive decline. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait, sometimes mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, and may be accompanied by double vision or bulging eyes, and lower limb spasticity. HH is a disease in which too much iron accumulates in parenchymal organs, leading to iron overload and subsequent organ toxicity and failure. The study participants consisted in 213 subjects at genetic risk for FAP, HD and MJD and 31 subjects at genetic risk for HH, that were assessed through an interview to obtain sociodemographic data and the answer to one question about motivation to perform PST: “Which were the reasons that led you to perform the predictive test?" This study was carried out in Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. This research used a mixed-method, since qualitative and quantitative techniques of data analysis were used. Before deciding to seek genetic counseling and to know their genetic status, subjects at-risk have naturally considered their motives and it was probably the pro-counseling reasons the ones dictating the motivation to perform the PST. This may suggest that in fact there is a prior self-selection to the test, i.e. only those considering to have emotional skills to go through the process, performing the test. Seven major categories were obtained. The most significant ones for FAP, HD and MJD were reasons related to the future, reasons related to others and reasons related to curiosity and to the need to know. For HH, the most important ones were reasons related to others and reasons related to the characteristics of the disease. The motivation of subjects at-risk to perform the PST for FAP, HD and MJD is external and unrelated to the disease, while the motivation of subjects at-risk to perform the PST for HH is related to the disease. Reasons related to others are a common motivation: as subjects at-risk for FAP, HD and MJD, subjects at-risk for HH also chose reasons related to others as one of the most important motivations to carry out the PST. These subjects also care about the fact that they can transmit the disease to their children and care about other family members which are already ill. The category reasons related to others includes subcategories that identify the person and the situation that led to the decision to perform a PST. Subjects at-risk are also concerned about the fact that they have to decide whether or not to have children and its economic implications.
- Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazoPublication . Lêdo, Susana; Leite, Ângela; Souto, Teresa; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeBackground. Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for autosomal dominant late-onset diseases, such as Huntington's disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact in individuals who agreed to perform the pre-symptomatic testing for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP). Method: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD. Subjects were mostly women (58%) and married (67%). Three cutoffs points were considered: 4 years (middle-term) and 7 and 10 years (long-term) indicating the time after receiving the PST results. Results: results showed that women and widows (oldest) participants presented the highest mean values for almost all BSI dimensions and the highest mean values correspond to the obsessive-compulsive BSI dimensions. Concerning the nature of the disease, MJD participants presented the highest mean values. No differences were found concerning the PST test results while participants are still asymptomatic. Psychopathology was only present in symptomatic carriers. Conclusions: The onset of the disease seems to assume the trigger for the presence of psychological disturbance in the subjects, regardless the time that has elapsed since the PST result communication or the individual carrier/non-carrier condition.
- Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy: Percepción del riesgo en sujetos con riesgo de Polineuropatía Amiloide FamiliarPublication . Leite, Ângela; Dinis, Maria Alzira Pimenta; Sequeiros, Jorge; Paúl, ConstançaThe aims of this study are to know if subjects at-risk were aware of their 50% risk for Familial Amyloidotic Polyneuropathy (FAP); to know the value of the subjective risk; to understand the association between sociodemographic characteristics and risk perception, and between the risk status and the subjective perception of risk. 174 subjects 50% atrisk for FAP were tested. 52.9% subjects at-risk were aware of their 50% risk condition. The mean value of the subjective risk was higher and closer to 50% when the subjects were aware of their 50% risk condition. Education was associated to a higher awareness of being at 50% risk. It seems that information on previous knowledge before performing the genetic counselling increases the subjective risk.
- Subjects At-Risk for Genetic Diseases in Portugal: Illness RepresentationsPublication . Leite, Ângela; Dinis, Maria Alzira Pimenta; Sequeiros, Jorge; Paúl, ConstançaThis study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington's disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemochromatosis (HH). The present study included a clinical group that consisted of 213 subjects at genetic risk (FAP, HD and MJD), comprising 174 subjects at-risk for FAP, 34 subjects at-risk for HD and only 5 subjects at-risk for MJD; and the control group consisting of 31 subjects at genetic risk for HH. All subjects at-risk were undergoing the process of genetic counseling to learn their genetic status (carrier or non-carrier). Subjects were assessed through a semi-structured single interview, in order to obtain sociodemographic data and the answer to an open-ended question relating to the illness representation issue: "What does this illness mean to you?/ What is this disease to you?" It was in the subjects' metaphors that subjects best expressed what they felt regarding the disease and the situation of being at-risk for this disease. Family is their mirror and their source of learning and, therefore, it is inevitable that family is related to the meaning of the disease itself.