Browsing by Author "Sousa, L."
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- Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)Publication . Asif, M.; Conceição, I.C.; Kwiatkowska, K.; Rasga, C.; Café, Cátia; Sousa, L.; Oliveira, G.; Couto, M.F.; Vicente, A.M.Introduction: Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including rare Copy Number Variants (CNVs), have a substantial impact in ASD risk 1, and are associated with specific phenotypic manifestations 2. Recent studies reported that rare inherited CNVs are enriched in mothers of ASD children compared with mothers of controls and are preferentially transmitted from mothers to ASD children suggesting a sex bias in CNV transmission; further, the imbalanced transmission of small pathogenic CNVs from unaffected mothers to their sons with ASD has been described 3, 4. An increased prevalence of autism - like personality traits is found in unaffected relatives of ASD children, suggesting a genetic liability of a broader autism phenotype (BAP) 5. The BAP in parents of autistic children can be assessed by the Social Responsiveness Scale (SRS) 6 and Broad Autism Phenotype Questionnaire (BAPQ) 7 reports . The SRS is 65 - item questionnaire to identify sub - clinical social impairments and interpersonal behaviour in individuals . The BAPQ is a 36 - item questionnaire measures social aloofness, rigid personality, and pragmatic language deficits in both parents and children.
- NUTRIAGEING: combining science, cooking and agriculturePublication . Silva, M.S.; Ferreira, A.; Sousa, L.; Costa, H.S.; Albuquerque, T.G.; Silva, M.A.; Sanches-Silva, A.; Martins, A.; Turkman, A.; Turkman, F.; Antunes, M.; Rauter, A.P.There are three main behavior traits that have been associated with human health status: to be physically active, to be mentally active and to eat well. These are the main topics addressed by PERSSILAA, an European Project focused on the development and validation of a new service model, to screen for and prevent frailty in older adults, integrating nutrition, physical and cognitive function. Nutrition plays an important role all over our life span, especially in older adults. The importance of nutrition education and the impact of consumer misinformation about the benefits of these food choices becomes clear with the recognition that nutritional status influences the rate of physiologic and functional decline with age. Helping people to choose more nutritive food that will contribute to maintain good health, improve their cognitive function, increase their energy levels and prevent their frailty. There are several available websites related to nutrition targeting the older adult population. However, some are not user friendly and eHealth literacy is still seen as a major obstacle to the uptake of ICT technologies in the health sector. The development of an interactive and user-friendly website providing information, advice and simple services focused on the nutritional status of elderly people, was a most needed task. The NUTRIAGEING website has emerged to address this need. It was created to be a major platform for the transfer of scientific knowledge into advice to the general public, integrated in the PERSSILAA platform. It will offer several modules to promote healthier nutrition, to educate the population on how to improve food habits, and on how to grow a vegetable garden. It will be structured around healthy eating, cooking recipes with videos, and vegetable gardens.
- PERSSILAA Project-An Innovative Approach to Nutritional Education for Older AdultsPublication . Martins, A.; Turkman, A.; Ferreira, A.; Turkman, F.; Antunes, M.; Silva, M.S.; Sousa, L.; Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Vollenbroek-Hutten, M.; Rauter, A.P.Demographic ageing is a global trend and frailty is highly prevalent among older adults, which constitutes a major health problem. PERSSILAA (PERsonalised ICT Supported Service for Independent Living and Active Ageing) is a unique European project that develops and validates a new service model, to screen for and prevent frailty in community dwelling older adults. This multimodal service integrates nutrition, physical and cognitive function and is supported by an interoperable ICT service infrastructure. A multidisciplinary team from 5 countries, The Netherlands, Spain, Italy, Portugal and Ireland, is providing a unique combination of skills to develop remote services for screening, monitoring and training modules aiming to contribute to good health habits on the nutritional, physical and cognitive domains. This communication will give a special focus to the work developed by the Portuguese team in this project, comprising also the design of an interactive nutrition website.
- The new automated daily mortality surveillance system in PortugalPublication . Nogueira, P.J.; Machado, A.; Rodrigues, E.; Nunes, Baltazar; Sousa, L.; Jacinto, M.; Ferreira, A.; Falcão, J.M.; Ferrinho, P.The experience reported in an earlier Eurosurveillance issue on a fast method to evaluate the impact of the 2003 heatwave on mortality in Portugal, generated a daily mortality surveillance system (VDM) that has been operating ever since jointly with the Portuguese Heat Health Watch Warning System. This work describes the VDM system and how it evolved to become an automated system operating year-round, and shows briefly its potential using mortality data from January 2006 to June 2009 collected by the system itself. The new system has important advantages such as: rapid information acquisition, completeness (the entire population is included), lightness (very little information is exchanged, date of death, age, sex, place of death registration). It allows rapid detection of impacts (within five days) and allows a quick preliminary quantification of impacts that usually took several years to be done. These characteristics make this system a powerful tool for public health action. The VDM system also represents an example of inter-institutional cooperation, bringing together organisations from two different ministries, Health and Justice, aiming at improving knowledge about the mortality in the population.