Positive health effects of the natural outdoor environment in typical populations in different regions in Europe (PHENOTYPE): a study programme protocol

Introduction Growing evidence suggests that close contact with nature brings benefits to human health and well-being, but the proposed mechanisms are still not well understood and the associations with health remain uncertain. The Positive Health Effects of the Natural Outdoor environment in Typical Populations in different regions in Europe (PHENOTYPE) project investigates the interconnections between natural outdoor environments and better human health and well-being. Aims and methods The PHENOTYPE project explores the proposed underlying mechanisms at work (stress reduction/restorative function, physical activity, social interaction, exposure to environmental hazards) and examines the associations with health outcomes for different population groups. It implements conventional and new innovative high-tech methods to characterise the natural environment in terms of quality and quantity. Preventive as well as therapeutic effects of contact with the natural environment are being covered. PHENOTYPE further addresses implications for land-use planning and green space management. The main innovative part of the study is the evaluation of possible short-term and long-term associations of green space and health and the possible underlying mechanisms in four different countries (each with quite a different type of green space and a different use), using the same methodology, in one research programme. This type of holistic approach has not been undertaken before. Furthermore there are technological innovations such as the use of remote sensing and smartphones in the assessment of green space. Conclusions The project will produce a more robust evidence base on links between exposure to natural outdoor environment and human health and well-being, in addition to a better integration of human health needs into land-use planning and green space management in rural as well as urban areas

Relations entre santé et espaces verts et bleus : une synthèse de la recherche empirique, 2003-2014

Cet article examine treize revues de synthèse de la recherche scientifique et des publications officielles qui traitent des effets positifs de l’exposition à un environnement naturel sur les dimensions psychique, physique et sociale de la santé humaine et du bien-être. Ces contributions émanent de plusieurs disciplines tandis que les contributions interdisciplinaires sont rares. Notre analyse suggère des preuves empiriques modérées à fortes pour les impacts positifs des espaces verts et bleus sur la santé mentale et physique, et faibles en ce qui concerne la cohésion sociale. En outre, elle révèle que la comparaison entre les différentes études s’avère délicate et qu’il est difficile de dégager des conclusions claires au sujet des bienfaits des espaces verts et bleus sur la santé. De fait, des recommandations de recherche sont esquissées dans l’optique de contribuer à combler le manque de connaissances

Relations entre santé et espaces verts et bleus : une synthèse de la recherche empirique, 2003-2014

Cet article examine treize revues de synthèse de la recherche scientifique et des publications officielles qui traitent des effets positifs de l’exposition à un environnement naturel sur les dimensions psychique, physique et sociale de la santé humaine et du bien-être. Ces contributions émanent de plusieurs disciplines tandis que les contributions interdisciplinaires sont rares. Notre analyse suggère des preuves empiriques modérées à fortes pour les impacts positifs des espaces verts et bleus sur la santé mentale et physique, et faibles en ce qui concerne la cohésion sociale. En outre, elle révèle que la comparaison entre les différentes études s’avère délicate et qu’il est difficile de dégager des conclusions claires au sujet des bienfaits des espaces verts et bleus sur la santé. De fait, des recommandations de recherche sont esquissées dans l’optique de contribuer à combler le manque de connaissances

Rethinking conceptual frameworks and models of health and natural environments

This article considers conceptual frameworks and models applied in research about the multiple relations between human contact with natural environments (specifically green public spaces), diverse kinds of human activities and uses of those spaces, and effects on physical and mental health. Conceptual frameworks are tools for thinking about such complex subjects. Conceptual models represent the multiple relations between key factors and variables. These models can be used to represent the mutual interactions between the core components of environmental conditions of specific green public spaces, the main kinds of human activities in those settings, and various impacts on health. A literature search showed that the authors of various conceptual models used a metaphor of pathways to represent relations between explanatory variables by linear cause–effect relations. Mutual interaction between key variables and feedback loops between different components of the model are rarely included. Hence, it is argued that these models do not represent the complexity of real world situations. The authors propose a systemic conceptual framework founded on core principles of human ecology. The proposed conceptual framework and model have been formulated during and after an EU 7th Framework project about the ‘‘Positive Health Effects of the Natural Outdoor Environment in Typical Populations in Different Regions of Europe.

Enjeux environnementaux : le déni de complexité

This article considers the multiple dimensions of environmental issues and the failure to deal with them effectively since the 1970s. The authors highlight that the complexity of environmental issues is still not well understood. A holistic or systemic conceptual framework has rarely been applied to understand the interconnected and multiple relationships between environmental concerns and cultural, economic, social and political issues that cross conventional disciplinary and professional borders. The challenges of addressing this complexity include dealing with multiple geo-political scales and time frames. The authors also argue that current environmental issues should not be defined only as scientific subjects, or political objectives, because they are much broader societal challenges (wicked problems)that should be addressed by actors and institutions from both the private and public sectors. This means that transdisciplinary initiatives should replace conventional contributions solely based on scientific knowledge and/or professional expertise in order to generate public debate and integrate other kinds of knowledge and experiences in order to overcome the current deadlock

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

BACKGROUND: The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. OBJECTIVE: To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. METHODS: We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls. RESULTS: When compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal IQ (mean 83) and a majority of carriers require speech therapy. Over 80% of individuals exhibit psychiatric disorders including ASD, which is present in 15% of the paediatric carriers. Increase in head circumference (HC) during infancy is similar to the HC and brain growth patterns observed in idiopathic ASD. Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. Malformations are infrequently found, confirming only a few of the previously reported associations. CONCLUSIONS: The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry. Although non-specific, these features are clinically significant and reproducible. Lastly, this study demonstrates the necessity of studying large patient cohorts ascertained through multiple methods to characterise the clinical consequences of rare variants involved in common diseases

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs. Transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in orthologous mouse models, raising the possibility that ciliary dysfunction contributes to 16p11.2 pathologies. In support of this hypothesis, we found structural ciliary defects in the CA1 hippocampal region of 16p11.2 duplication mice. Moreover, by using an established zebrafish model, we show genetic interaction between KCTD13, a key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes. Overexpression of BBS7 rescues head size and neuroanatomical defects of kctd13 morphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively. Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs. Transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in orthologous mouse models, raising the possibility that ciliary dysfunction contributes to 16p11.2 pathologies. In support of this hypothesis, we found structural ciliary defects in the CA1 hippocampal region of 16p11.2 duplication mice. Moreover, by using an established zebrafish model, we show genetic interaction between KCTD13, a key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes. Overexpression of BBS7 rescues head size and neuroanatomical defects of kctd13 morphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively. Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs