Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.</p

Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)

Peer reviewe

Gapet mellan teori och praktik i pappersprototypande : en studie i diskrepans mellan det ideala arbetssättet akademin förespråkar och hur praktikern faktiskt arbetar

This study presents an alternate viewpoint to the strive to overcome the gap between research and practitioners within paper prototyping in interaction design. Earlier research identifies three aspects of this gap, which is: Practitioners being unaware of interaction design methods and theories Practitioners being aware, but choosing not to apply these methods and theories, due to time, budget and constraints of labour Practitioners and research having different perspective on similar design issues Our study was done by carrying out qualitative interviews with interaction designers based on two digital design bureaus. One of the bureaus has an expressed link to research: the other has not. Our hypothesis is that the gap would manifest as a difference in work practice between the two bureaus. Our study shows that the two bureaus have similarities in work practice and that this work practice is based on scientific methods and theories, but is adapted to fit the client and/or the project. We conclude that the overcoming of the gap might not be necessary. Perhaps the nature of the design process with its complexity makes this hard. We advocate a trust in the practitioner’s ability to consider and adapt methods and theories regarded necessary

Partly decoupled tree-ring width and leaf phenology response to 20th century temperature change in Sweden

The recent warming trend, and associated shifts in growing season length, challenge the principle of uniformitarianism, i.e., that current relations are persistent over time, and complicates the uncritical inferences of past climate from tree-ring data. Here we conduct a comparison between tree-ring width chronologies of Pinus sylvestris L. (Scots pine), Picea abies (L.) Karst. (Norway spruce) and Betula pubescens Ehrh. (Downy birch) and phenological observations (budburst and leaf senescence) of Fagus sylvatica L. (European beech), Quercus robur L. (European oak), Betula sp. (Birch), Norway spruce and Scots pine) in Sweden to assess to what extent the tree-ring width–temperature relationship and the timing of phenological phases are affected by increased temperature. Daily meteorological observations confirm a prolongation of the thermal growing season, most consistently observed as an earlier onset of around 1–2 weeks since the beginning of the 20th century. Observations of budburst closely mimic this pattern, with budburst of the deciduous trees occurring 1–2.5 weeks earlier. In contrast to the changes seen in phenology and observational temperature data, the tree-ring width–temperature relationships remain surprisingly stable throughout the 20th century. Norway spruce, Scots pine and Downy birch all show consistently significant correlations with at least one 30 day-long window of temperature starting in late June–early July season. Norway spruce displays the largest degree of stability, with a consistent 60 day-long temperature window with significant correlation starting around Julian calendar day 150. Thus, our results suggest that the principle of uniformitarianism is not violated during the period covered by modern meteorological observations. Further research is needed to determine at what thresholds the temperature sensitivity of these species may alter or deteriorate as a consequence of the ongoing climate change

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders