Browsing by Issue Date, starting with "2024-04-08"
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- Ecological validity of neuropsychological interventions: A systematic reviewPublication . Pinto, Joana O.; Pontes, Diogo; Peixoto, Bruno; Dores, Artemisa R.; Barbosa, FernandoThe concept of ecological validity (EV) in neuropsychological interventions (NI) has been consistently advocated, but there is a lack of reviews focused on how EV is operationalized in NI programmes. This review aims to address this gap by exploring the outcome measures more commonly used for assessing EV and to understand the main characteristics of programmes with good EV. A literature search was conducted to identify studies that examined the EV of NI programmes, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and the Cochrane Collaboration Guidelines. A total of twenty-seven studies were included in this review. Among these, only three studies explicitly described the procedures used to assess EV. Additionally, almost half of the studies assumed that interventions had good EV based on the characteristics of the programmes. The inconsistent assessment of EV of NI programmes prevented the identification of specific characteristics of programmes demonstrating good EV. This systematic review reveals a significant gap in the literature concerning the operationalization of EV within the field of NI. Further research is required to establish a consistent definition of EV in the context of NI and to develop criteria for its effective operationalization.
- Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counsellingPublication . Pedroto, Maria; Coelho, Teresa; Fernandes, Joana; Oliveira, Alexandra; Jorge, Alípio; Moreira, João Mendes; Oliveira, AlexandraHereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and other age-related clinical factors within and among families affected by ATTRv amyloidosis. We analysed information from 934 trees, focusing on family, parents, probands and siblings relationships. We focused on 1494 female and 1712 male symptomatic ATTRV30M patients. Results are presented alongside a comparison of current with historical records. Clinical and genealogical indicators identify major changes. Overall, analysis of familial data shows the existence of families with both early and late patients (1/6). It identifies long familial follow-up times since patient families tend to be diagnosed over several years. Finally, results show a large difference between parent-child and proband-patient relationships (20–30years). This study reveals that there has been a shift in patient profile, with a recent increase in male elderly cases, especially regarding probands. It shows that symptomatic patients exhibit less variability towards siblings, when compared to other family members, namely the transmitting ancestors’ age of onset. This can influence genetic counselling guidelines. Abbreviations: AOO: age-at-onset, age-of-onset; ATTRv: hereditary transthyretin amyloidosis (v stands for variant); ATTRV30M: specific genetic mutation associated with transthyretin; coef.var: coefficient of variation; DPD: diphosphono-propanodicarboxylic acid scintigraphy; ECG: electrocardiogram; GLM: generalised linear model; NMR: not most recent cases; OMR: only most recent cases; SD: standard deviation; UCA: Unidade Corino de Andrade