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1.
Clin Gerontol ; : 1-12, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38992935

RESUMO

OBJECTIVES: We assessed whether individuals with mild Alzheimer's disease (AD), despite some deficits in autobiographical memory, could effectively convey their personal experiences through storytelling. METHODS: We invited 37 individuals with mild AD and 37 control participants to share their personal experiences. We rated these narratives based on five characteristics of storytelling: focus, reflection, entertainment, structure, and specificity. RESULTS: Analyses demonstrated that individuals with AD conveyed more general than specific memories, and no significant differences were observed between structured and unstructured memories. Importantly, individuals with AD recounted more memories with focus than without, with reflection than without, and that were entertaining than were not. Compared with those of the control participants, the narratives of the individuals with AD were less focused, structured, and specific. However, no significant differences were observed between the two samples regarding reflection or entertainment. CONCLUSIONS AND CLINICAL IMPLICATIONS: Individuals with mild AD can have difficulties in retrieving specific memories, but their storytelling of personal experience can be focused, exhibit reflection, and be entertaining. Individuals with mild AD can engage in reflective and entertaining autobiographical storytelling, potentially contributing to their sense of identity and connection with others.

2.
J Alzheimers Dis Rep ; 8(1): 495-500, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38549640

RESUMO

Background: The potential of ChatGPT in medical diagnosis has been explored in various medical conditions. Objective: We assessed whether ChatGPT can contribute to the diagnosis of Alzheimer's disease (AD). Methods: We provided ChatGPT with four generated cases (mild, moderate, or advanced stage AD dementia, or mild cognitive impairment), including descriptions of their complaints, physical examinations, as well as biomarker, neuroimaging, and neuropsychological data. Results: ChatGPT accurately diagnosed the test cases similarly to two blinded specialists. Conclusions: While the use of generated cases can be a limitation to our study, our findings demonstrate that ChatGPT can be a useful tool for symptom assessment and the diagnosis of AD. However, while the use of ChatGPT in AD diagnosis is promising, it should be seen as an adjunct to clinical judgment rather than a replacement.

3.
PLoS One ; 19(2): e0294240, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38381728

RESUMO

BACKGROUND: For couples facing Parkinson's disease, marital relationships are significantly impacted, even at the early stages of the disease. However, very few studies have explicitly explored the functioning of the couple and how both partners deal with Parkinson's disease. The aim of this study was to explore the experiences and strategies of couples facing Parkinson's disease in the early stage using dyadic interpretative phenomenological analysis. METHODS: Fifteen couples agreed to participate in the study. Semistructured interviews were conducted with each partner separately regarding his or her individual experience with Parkinson's disease, the couple's history, the impact of the diagnosis on the functioning of the couple, and his or her projections for the future. RESULTS: Three higher-order themes emerged from the analyses. The first theme, "Being tested by the diagnosis", highlights 4 dyadic configurations according to the individual's and the couple's capacity for adjustment following the diagnosis: "noncongruent", "collapsed", "relieved" and "avoidant". The second theme, "Talking about everything except the disease", underlines that communication about the disease is often avoided both within the couple and with relatives to protect the persons with Parkinson's disease or respect their wishes. The third theme, "Supporting each other", describes the different levels of harmony between the two partners in the management of daily life and symptoms and their relational impacts. CONCLUSION: These results allow us to better understand the experiences of both partners and to highlight the importance of promoting better acceptance of the diagnosis by persons with Parkinson's disease to allow better communication between partners and with relatives. Such support prevents disease-specific distress and facilitates better adjustment in the later stages of the disease.


Assuntos
Adaptação Psicológica , Doença de Parkinson , Masculino , Feminino , Humanos , Doença de Parkinson/diagnóstico , Casamento
4.
J Alzheimers Dis Rep ; 8(1): 33-42, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38229829

RESUMO

Background: Future thinking and prospective memory are two cognitive processes oriented toward the future and reliant on the ability to envision oneself in future scenarios. Objective: We explored the connection between future thinking and prospective memory in individuals with Alzheimer's disease (AD). Methods: We invited both AD participants and control participants to engage in event-based prospective memory tasks (e.g., "please hand me this stopwatch when I inform you there are 10 minutes remaining") and time-based prospective memory tasks (e.g., "close the book you are working on in five minutes"). Additionally, we asked participants to engage in a future thinking task where they imagined upcoming events. Results: Analysis revealed that AD participants exhibited lower performance in both prospective memory tasks and future thinking compared to the control group. Importantly, we identified significant positive correlations between the performance on event- and time-based prospective memory tasks and future thinking abilities among AD participants. Conclusions: These findings underscore the connection between the decline in both prospective memory domains and the ability to envision future events in individuals with AD. Our results also shed light on the challenges AD individuals face when trying to project themselves into the future to mentally pre-experience upcoming events.

5.
Health Psychol Rev ; : 1-30, 2024 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-38290719

RESUMO

ABSTRACTNeurodegenerative diseases (NDDs) pose significant challenges to couple relationships. Existing research has predominantly focused on the impact of Alzheimer's disease (AD) on various types of dyads, resulting in significant advances in the field. However, despite a keen interest in transdiagnostic approaches , a comprehensive review addressing dyadic processes underlying the functioning of couple relationships across different NDDs is lacking. This meta-synthesis aimed to fill this gap by identifying, analysing, and integrating findings from qualitative studies examining couples facing different NDDs. Searches were conducted in four databases, identifying 35 articles meeting several inclusion criteria. A thematic synthesis was performed, identifying three interdependent themes : 'Disease-related challenges', 'Dyadic interactions', and 'Dyadic identity'. They emphasise that stress, social changes, the perception of time, and uncertainty are major challenges for partners.They also show how dyadic interactions such as communication are transformed and how partners strive to maintain their shared identity despite the progressive loss of the relationship's core components. This synthesis highlights key implications for clinical practice and future research, including the need to integrate disease-specific characteristics to interventions and understand the couple's functioning patterns and their evolution throughout the disease.

6.
Cancer Med ; 12(23): 21436-21451, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37937812

RESUMO

BACKGROUND: Digital health technologies have expanded tremendously in the last two decades, creating an emerging research and clinical field. They are regarded as cost-effective, and their use in healthcare is prioritized by many countries. However, the constant evolution of these technologies has led to an abundance of related literature. Thus, we conducted an umbrella review to identify and characterize digital supportive care interventions for patients with cancer and their relatives. METHODS: A preregistered umbrella review was conducted (PROSPERO registration number CRD42022333110). Five databases were searched (Embase, PsycINFO, PubMed, CINAHL, and the Cochrane Library). To be considered, studies had to be systematic reviews or meta-analyses, be performed on pediatric or adult patients with cancer or survivors or their relatives, report results on web-based or app-based supportive care interventions, and measure psychological, functional, or behavioral variables or quality of life related to cancer. The methodological quality of the studies was assessed using the AMSTAR-2 tool. FINDINGS: Twenty eligible studies were identified. Most of the included studies reported results from adult patients with cancer. Globally, digital interventions were shown to be effective for physical activity in patients with cancer but had mixed results regarding emotional outcomes and quality of life. Additionally, a lack of methodological quality was noted for most of the included reviews. DISCUSSION: Digital supportive care interventions could be an effective tool in cancer care for some outcomes. Recommendations have been formulated for further research in this field using adapted methodologies for the development of digital health interventions.


Assuntos
Aplicativos Móveis , Neoplasias , Adulto , Humanos , Criança , Cuidadores , Saúde Digital , Qualidade de Vida , Neoplasias/terapia , Internet
7.
Geriatr Psychol Neuropsychiatr Vieil ; 21(1): 107-115, 2023 Mar 01.
Artigo em Francês | MEDLINE | ID: mdl-37115686

RESUMO

Impaired awareness increases dependency of patients suffering from Alzheimer's Disease (AD) and caregivers' burden but remains insufficiently evaluated in clinical practice. The numerous conceptualisations of this symptomatology (anosognosia, denial, insight…) have only a slight impact on the three main assessment methodologies which are: the patient-caregiver discrepancy; the clinician rating of patients' awareness of illness; and the prediction of performance discrepancy methods. Nevertheless, most of evaluating tools are not validated yet, in particular regarding the clinician rating, leading to contrasted results. Most of recent studies reported positive correlations with apathy and AD severity, and negative relationships with depressive symptoms. Therefore, impaired awareness seems to be mainly influenced by patient's depression and apathy. We discuss these correlates and shared aspects of apathy and impaired awareness from neuroanatomical, clinical and conceptual viewpoints. We also highlight the relevance and limits of quantitative and qualitative assessment methods, in particular phenomenological.


Assuntos
Agnosia , Doença de Alzheimer , Humanos , Doença de Alzheimer/complicações , Doença de Alzheimer/diagnóstico , Depressão/diagnóstico , Testes Neuropsicológicos , Cuidadores , Agnosia/diagnóstico , Agnosia/etiologia
8.
Br J Health Psychol ; 28(2): 366-382, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36301684

RESUMO

INTRODUCTION: The public health issue of the Parkinson's disease (PD) has led to a great deal of research that has highlighted the individual challenges faced by the person with the Parkinson's disease (PwPD) and the caregiving spouse. Few studies, however, have sought to understand the functioning of couples facing PD, by differentiating each stage, each of which has its own issues. In particular, the "honeymoon period", characterized by a symptomatic respite allowed by the effectiveness of treatments for motor symptoms, has been poorly documented, especially at the dyadic level. DESIGN AND METHOD: This qualitative study, based on Interpretative Phenomenological Analysis, aimed to understand the experience of couples and their functioning at this stage. Fifteen couples participated in separate semi-structured interviews for each partner. The analyses highlighted four dyadic dynamics, which call into question the relevance of the term "honeymoon" to describe the experience of couples. RESULTS: While some couples appear to adjust by means of flexible functioning and a positive reinterpretation of this experience, other dyads oscillate between rigid hyperprotection in the face of perceived distress or a vicious circle of control/avoidance and, in some cases, gradually slipping towards the erosion of the relationship. DISCUSSION: These results show that the relational difficulties suffered by partners at this stage should be taken into account as soon as possible after the diagnosis. Strengthening the communication and the togetherness between partners, as well as working on dyadic emotional regulation, are particularly relevant options for these couples.


Assuntos
Doença de Parkinson , Humanos , Pesquisa Qualitativa , Comunicação , Saúde Pública , Cônjuges
9.
J Clin Psychol ; 79(7): 1641-1655, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36441140

RESUMO

Imagery work is a useful therapeutic tool in the treatment of depression. It is central in different therapeutic approaches, such as cognitive behavioral therapy and compassion-focused therapy. The clinical case of Cynthia is presented. Cynthia started therapy for severe depression associated with social anxiety and dependent personality disorder. At different key moments in the therapy, the proposed change strategies led to ruptures in the therapeutic alliance. For example, difficulties in accepting depression, fears of being judged by the therapist, guided imagery of compassion and work on the termination of therapy were both triggers of ruptures and spaces for working on the issues linked to the therapeutic relationship. The interactions between different factors of the therapeutic relationship from the perspectives of both the patient and therapist and the implementation of imagery practices in session are presented.


Assuntos
Terapia Cognitivo-Comportamental , Aliança Terapêutica , Humanos , Imagens, Psicoterapia , Transtorno da Personalidade Dependente , Depressão/terapia , Relações Profissional-Paciente , Psicoterapia
10.
Aging Ment Health ; 27(9): 1780-1789, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36284260

RESUMO

Objective: Theoretical models in informal dementia care have been developed to understand how risk and protective factors interact to cause caregiver's distress. The development of psychological network analysis provides a rich complement to our current models, as explores how different variables (or nodes) are associated using graph theories. Methods: The present study explored the use of network analysis using data from 125 informal caregivers of their partner with dementia (PwD). The included variables were recipient's dependency, self-efficacy, conflict within the family, dyadic adjustment, and caregiver's distress. Results: The analysis suggests a complex network of interacting variables. The core variable was not the caregiver's distress but rather their dyadic adjustment with their PwD. Variables were associated with caregiver distress through a large array of direct and indirect pathways and were associated with each other in the form of an asymmetric spider's web.Conclusion: The results show the complex interplay of variables in a psychological network. The central role of distress suggests a complex and dynamic role, notably through a bidirectional influence with quality of interactions. In the same way, quality of interactions appeared as one of the strongest nodes, its connectivity suggesting a crucial role to consider in our models and interventions.

11.
J Clin Exp Neuropsychol ; 44(4): 293-301, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35986554

RESUMO

BACKGROUND: The objective of this study was twofold. We assessed whether individuals with Alzheimer's disease (AD) demonstrate higher empathy toward people with the same disorder. We also assessed whether empathy may enhance the recognition of these peoples' faces. METHOD: Twenty-seven mild AD participants and 30 healthy older adults were invited to retain faces depicting either people diagnosed with AD or healthy people. Participants were also invited to rate their empathy toward all faces. RESULTS: Although AD participants reported higher empathy for "AD-labeled" than for "healthy" faces, recognition was similar for both categories of faces. Healthy older adults also reported higher empathy for "AD-labeled" than for "healthy" faces. However, they demonstrated higher recognition for "healthy" than for "AD-labeled" faces. CONCLUSIONS: Although our paper shows no effect of empathy on face recognition in AD, it provides a clinically relevant finding: individuals with mild AD can demonstrate significant empathy toward people with the same medical condition.


Assuntos
Doença de Alzheimer , Reconhecimento Facial , Idoso , Empatia , Humanos , Reconhecimento Psicológico
12.
Geriatr Nurs ; 46: 1-6, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35576786

RESUMO

We assessed how Alzheimer's disease (AD) patients would imagine their self in the future. AD patients and healthy controls were asked to generate statements beginning with "I-will-be" to describe how they saw themselves or how they wished to be in the future. These statements were analyzed in terms of four self-dimensions, i.e., physical self, social self, psychological self and self-cessation. The latter was investigated to assess how AD patients processed the idea of their own mortality. Findings demonstrated fewer total "I-will-be" statements in AD participants than in controls, suggesting that the construction of future self-concepts becomes weaker in the disease. Our results also demonstrated fewer statements related to the physical-self, the social-self and the psychological-self, and more statements related to self-cessation in AD participants than in controls. These findings suggest that AD patients are highly preoccupied by the idea of death when thinking about the future of their self.


Assuntos
Doença de Alzheimer , Memória Episódica , Doença de Alzheimer/psicologia , Previsões , Humanos , Autoimagem
13.
Alzheimer Dis Assoc Disord ; 36(4): 362-364, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35380555

RESUMO

BACKGROUND: Diagnosis of Alzheimer disease (AD) can cause substantial psychological distress in patients. We thus assessed how patients with AD remember the announcement of diagnosis. METHODS: We recruited 47 participants with mild AD (26 women; M age=68.89 y, SD=7.37; M years of formal education=9.74, SD=3.00). We invited the participants to remember the moment when their clinicians announced their diagnosis, within 6 months of the event, as well as a control memory, over the same period. We analyzed memory retrieval regarding specificity, as well as the subjective experience of retrieval (ie, regarding mental time travel, visual imagery, emotion and importance). RESULTS: No significant differences were observed between memory of diagnosis and control memory regarding specificity, mental time travel and visual imagery. However, memory of diagnosis triggered a more intense emotional experience and feeling of importance than control memory. DISCUSSION: Retrieval of the diagnosis announcement can activate a strong emotional and personally important experience in patients with AD. When remembering the diagnosis announcement, patients with AD may re-experience some features of that turning point in which they shift from "person" to "patient."


Assuntos
Doença de Alzheimer , Memória Episódica , Humanos , Feminino , Idoso , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Rememoração Mental/fisiologia , Memória/fisiologia , Emoções/fisiologia
14.
J Alzheimers Dis ; 87(1): 149-154, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35253756

RESUMO

Previous studies have reported the major role of apathy in awareness assessment among Alzheimer's patients using the patient-caregiver discrepancy method, whatever the awareness dimension assessed. Using the Apathy Evaluation Scales among other awareness scales, we report that apathy is the sole awareness dimension distinguishing healthy controls (25), mild (57) and moderate-to-moderately-severe (11) Alzheimer's patients. A linear regression showed that the Mini-Mental State Examination score used as a risk factor for non-awareness was the only factor associated with awareness of apathy and was the best predictor. This suggests that apathy is the most discriminant dimension for awareness assessment in Alzheimer's disease.


Assuntos
Doença de Alzheimer , Apatia , Doença de Alzheimer/diagnóstico por imagem , Cuidadores , Humanos
15.
Appl Neuropsychol Adult ; : 1-6, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-35007449

RESUMO

A common question in the neuropsychological testing of patients with Alzheimer's Disease is whether or not patients should be tested in the presence of their spouses. We addressed this issue by assessing the neuropsychological performances of Alzheimer's Disease patients in the presence or absence of spouses. Results showed no significant differences between patients' performances in the presence or absence of spouses on tests assessing general cognitive abilities, episodic memory, working memory, inhibition and flexibility. No significant differences were observed regarding either anxiety or depression in patients when tested alone, compared to when spouses were attending. However, patients demonstrated higher verbal fluency when tested alone compared to when spouses attended. Clinicians may carry out neuropsychological assessment in the presence or absence of spouses, except when assessing verbal fluency. In such cases, clinicians should privilege testing patients alone or, if spouses attend the test, take into account this variable when interpreting patients' performances.

16.
Aging Clin Exp Res ; 34(6): 1295-1301, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35091969

RESUMO

BACKGROUND AND AIMS: Autobiographical memory serves to recall past personal experiences and share them with others, promoting social bonding and communication. In this study, we investigated whether encouraging patients with Alzheimer's disease (AD) to share autobiographical memories during formal neuropsychological testing may boost the patient-clinician relationship, and more specifically, the neuropsychologist's level of sympathy as perceived by patients. METHODS: We invited patients with mild AD to perform neuropsychological testing in two conditions. In one condition, we invited patients to retrieve and share two autobiographical memories after testing, while in a control condition, the testing session ended without asking patients to retrieve and share any autobiographical memories. After the two conditions, patients were invited to rate the neuropsychologist's level of sympathy towards them. RESULTS: Analysis demonstrated that patients perceived a higher level of sympathy when their neuropsychologist invited them to retrieve and share past personal experiences. DISCUSSION: By inviting patients with AD to retrieve past personal experiences, clinicians can promote a sense of sharing, create a social bond and, consequently, enhance the therapeutic relationship. In other words, by inviting patients with AD to share autobiographical memories, clinicians can promote a "social glue" with their patients, boosting mutual sympathy and patients' well-being.


Assuntos
Doença de Alzheimer , Memória Episódica , Doença de Alzheimer/psicologia , Humanos , Rememoração Mental , Testes Neuropsicológicos , Percepção
17.
Clin Gerontol ; 45(3): 514-524, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-31566086

RESUMO

Objective: To explore types of caregivers' management approaches, to develop a scale to assess caregivers' management behaviors and their relationship implications and to examine the scale's psychometric qualities.Method: First, based on a qualitative study, developing the corpus of items to align as closely as possible to caregivers' experience using their own words; second, exploring the structure of the scale and reducing the number of items; and third, studying the validity of the scale.Results: After assessing the validity requirements of the original corpus of items, an exploratory factor analysis of the first version of the scale with 62 items permitted the identification of three dimensions of caregiver management: "Negative control", "Positive stimulation" and "Overwhelming feeling". Because of its redundancy with respect to existing scales, the last dimension was removed. In the last step, a confirmatory factor analysis showed that a 13-item two-order factor model was in an acceptable model.Conclusion: The 13-item scale can be used to identify caregivers facing difficulty adapting their support as a baseline for following caregivers over time or evaluating the effectiveness of an intervention.Clinical implications: This scale can rapidly evaluate caregivers' management behaviors and their relational consequences and monitor outcomes of support interventions.


Assuntos
Cuidadores , Demência , Demência/terapia , Humanos , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários
18.
Curr Alzheimer Res ; 18(11): 876-883, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34915836

RESUMO

OBJECTIVE: This study assessed the ability of patients with Alzheimer's Disease (AD) to produce "when, where, and who" information during future thinking. METHODS: AD patients and control participants were invited to imagine future scenarios. Future thinking was analyzed with respect to the number of "when, where, and who" details. Analysis showed fewer "when, where, and who" details in AD participants than in control participants. Fewer "when" than "where" details and fewer "where" than "who" details were observed in AD and control participants. RESULTS: Production of temporal information in participants with AD was found to be associated with general cognitive functioning, as assessed with the Mini Mental State Exam. Future thinking in AD is mainly associated with reduced contextual information. CONCLUSION: The diminished ability to construct time-related details during future thinking in AD can be mainly associated with the diminished general cognitive ability in AD, and probably with hippocampal compromise in the disease. We also propose a socio-emotional account according to which, confronted with a limited-time perspective during future thinking, AD patients may tend to maximize their emotional well-being by avoiding time-related information and thinking about friends, family and beloved ones.


Assuntos
Doença de Alzheimer , Memória Episódica , Doença de Alzheimer/psicologia , Cognição , Emoções , Humanos , Pensamento
19.
J Alzheimers Dis ; 84(2): 855-867, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34602477

RESUMO

BACKGROUND: The increased tasks and responsibilities involved in supporting a parent with dementia (PWD) can induce distress in adult-child caregivers. Previous studies have shown that distress can be influenced by PWD and caregiver determinants, but few studies have considered the associations between these variables. OBJECTIVE: This study tested a complex model of adult-child caregiver distress in which PWD and caregiver determinants and their associations are considered. METHODS: 159 adult-child caregivers participated in this online study. PWD and caregiver determinants were assessed using questionnaires and their associations were investigated using the partial least squares path method. RESULTS: The model showed a significant partial mediation through self-efficacy (confidence in one's ability to organize and manage caregiving situations) between poor self-rated health and distress. Self-efficacy was a significant mediator of the relationship between informal social support and distress, and between preparedness and distress. The direct path between parental overprotection and distress was significant. The association between care and distress was significantly stronger for adult-child caregivers not living with their PWD. CONCLUSION: The model revealed the important mediating role of self-efficacy. Clinical interventions should improve the preparedness of adult-child caregivers and the quality of social support. The positive perception of their self-rated health may thus be promoted.


Assuntos
Filhos Adultos/estatística & dados numéricos , Cuidadores/estatística & dados numéricos , Demência/enfermagem , Angústia Psicológica , Autoeficácia , Filhos Adultos/psicologia , Cuidadores/psicologia , Feminino , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
20.
Disabil Rehabil ; 43(16): 2304-2311, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-31786957

RESUMO

BACKGROUND: Holt-Oram syndrome (HOS) is a rare genetic disease characterized by variable radial upper limb and cardiac defects. The aim of this research was to shed light on people's subjective perceptions of their diseases, how these perceptions provide meaning, and the consequences the syndrome can have in daily life and across all life stages. METHODS: Semistructured interviews with ten participants diagnosed with HOS were conducted in France and analyzed using interpretative phenomenological analysis. RESULTS: Participants' experiences fall under two main themes, namely, "stages of self-construction as different" and "when I am no longer the only one involved", each of which has three subthemes. From childhood onwards, symptoms monopolize the physical and psychological spheres. The feeling of being different is unavoidable until the patient can appropriate his or her condition, and by the end of adolescence, the patient generally feels that he or she has adapted to the syndrome. In adulthood, other concerns arise, such as the fear of rejection, the need to better understand the genetic issues of the condition and the desire for offspring to not experience the same life difficulties. CONCLUSION: The findings underscore the specific psychological issues associated with the syndrome at different life stages and the need for holistic genetic treatment with dedicated reference centers to improve care and further address these issues.IMPLICATIONS FOR REHABILITATIONHolt-Oram syndrome is a genetic disease characterized by abnormalities of the upper limbs and shoulder girdle and associated with a congenital heart defect.Specific issues arise at different stages of life: the physical consequences of the syndrome arise during childhood, the self-construction of pervasive difference during adolescence, the fear of being rejected as a young adult, and concerns about future parenthood and the transmission of the syndrome and the desire that one's child not be confronted with the same difficulties in adulthood.The complexity and entanglement of medical and existential issues related to HOS requires the development of multidisciplinary consultations that promote holistic care.The rarity of the syndrome and the lack of knowledge about HOS among health professionals and the general public make it necessary both to establish reference centers and to create patient associations to support patients.


Assuntos
Cardiopatias Congênitas , Comunicação Interatrial , Deformidades Congênitas das Extremidades Inferiores , Deformidades Congênitas das Extremidades Superiores , Anormalidades Múltiplas , Adolescente , Adulto , Criança , Feminino , Cardiopatias Congênitas/genética , Humanos , Masculino , Deformidades Congênitas das Extremidades Superiores/genética , Adulto Jovem
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