Genome-wide analysis identifies a role for common copy number variants in specific language impairment

An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an increased CNV burden in terms of the average number of events (11.28 vs 10.01, empirical P=0.003), the total length of CNVs (717 vs 513 Kb, empirical P=0.0001), the average CNV size (63.75 vs 51.6 Kb, empirical P=0.0005) and the number of genes spanned (14.29 vs 10.34, empirical P=0.0007) when compared with population controls, suggesting that CNVs may contribute to SLI risk. A similar trend was observed in first-degree relatives regardless of affection status. The increased burden found in our study was not driven by large or de novo events, which have been described as causative in other neurodevelopmental disorders. Nevertheless, de novo CNVs might be important on a case-by-case basis, as indicated by identification of events affecting relevant genes, such as ACTR2 and CSNK1A1, and small events within known micro-deletion/-duplication syndrome regions, such as chr8p23.1. Pathway analysis of the genes present within the CNVs of the independent cases identified significant overrepresentation of acetylcholine binding, cyclic-nucleotide phosphodiesterase activity and MHC proteins as compared with controls. Taken together, our data suggest that the majority of the risk conferred by CNVs in SLI is via common, inherited events within a ‘common disorder–common variant’ model. Therefore the risk conferred by CNVs will depend upon the combination of events inherited (both CNVs and SNPs), the genetic background of the individual and the environmental factors

Fish Intelligence, Sentience and Ethics

Fish are one of the most highly utilised vertebrate taxa by humans; they are harvested from wild stocks as part of global fishing industries, grown under intensive aquaculture conditions, are the most common pet and are widely used for scientific research. But fish are seldom afforded the same level of compassion or welfare as warm-blooded vertebrates. Part of the problem is the large gap between people’s perception of fish intelligence and the scientific reality. This is an important issue because public perception guides government policy. The perception of an animal’s intelligence often drives our decision whether or not to include them in our moral circle. From a welfare perspective, most researchers would suggest that if an animal is sentient, then it can most likely suffer and should therefore be offered some form of formal protection. There has been a debate about fish welfare for decades which centres on the question of whether they are sentient or conscious. The implications for affording the same level of protection to fish as other vertebrates are great, not least because of fishing-related industries. Here, I review the current state of knowledge of fish cognition starting with their sensory perception and moving on to cognition. The review reveals that fish perception and cognitive abilities often match or exceed other vertebrates. A review of the evidence for pain perception strongly suggests that fish experience pain in a manner similar to the rest of the vertebrates. Although scientists cannot provide a definitive answer on the level of consciousness for any nonhuman vertebrate, the extensive evidence of fish behavioural and cognitive sophistication and pain perception suggests that best practice would be to lend fish the same level of protection as any other vertebrate

Nicotinamide's Ups and Downs:Consequences for Fertility, Development, Longevity and Diseases of Poverty and Affluence

Aims and Scope: To further explore the role of dietary nicotinamide in both brain development and diseases, particularly those of ageing. Articles cover neurodegenerative disease and cancer. Also discussed are the effects of nicotinamide, contained in meat and supplements and derived from symbionts, on the major transitions of disease and fertility from ancient times up to the present day. A key role for the tryptophan – NAD ‘de novo’ and immune tolerance pathway are discussed at length in the context of fertility and longevity and the transitions from immune paresis to Treg-mediated immune tolerance and then finally to intolerance and their associated diseases. Abstract: Nicotinamide in human evolution increased cognitive power in a positive feedback loop originally involving hunting. As the precursor to metabolic master molecule NAD it is, as vitamin B3, vital for health. Paradoxically, a lower dose on a diverse plant then cereal-based diet fuelled population booms from the Mesolithic onwards, by upping immune tolerance of the foetus. Increased tolerance of risky symbionts, whether in the gut or TB, that excrete nicotinamide co-evolved as buffers for when diet was inadequate. High biological fertility, despite disease trade-offs, avoided the extinction of Homo sapiens and heralded the dawn of a conscious, creative, and pro-fertility culture. Nicotinamide equity now would stabilise populations and prevent NAD-based diseases of poverty and affluence

Terapia nutricional no diabetes gestacional Nutritional therapy in gestational diabetes

Trata-se de uma revisão da literatura científica sobre a terapia nutricional no Diabetes Mellitus Gestacional, sem restrição de data e com fontes primárias indexadas nas bases de dados SciELO, PubMed, Medline. Os resultados desta revisão apontam a intervenção nutricional como uma importante aliada no controle do Diabetes Mellitus Gestacional, trazendo potenciais benefícios à saúde materno-fetal. Na avaliação do estado nutricional materno devem ser empregados os indicadores antropométricos, dietéticos, bioquímicos, clínicos e funcional. Neste sentido, a avaliação dietética deve ser detalhada, com atenção para o fracionamento e composição das refeições, e grupos de alimentos presentes. No planejamento nutricional a distribuição de macronutrientes em relação ao consumo energético diário deve ser 45-65% de carboidratos, 15-20% de proteínas e 20-35% de lipídeos. Quanto a recomendação dos edulcorantes, são liberados para gestantes acesulfame K, aspartame, neotame, sacarina e sucralose. A atividade física também deve fazer parte da estratégia de tratamento do Diabetes Mellitus Gestacional, embora o impacto do exercício nas complicações neonatais ainda mereça ser rigorosamente testado. Ademais, estudos associam a habilidade de aconselhamento nutricional com a melhorara na adesão ao cuidado nutricional. Diante desses achados, para sucesso no controle do DMG são necessários: a participação da equipe inter e multidisciplinar, o cuidado pré-natal precoce, com assistência nutricional oportuna e a garantia da assistência de qualidade ao longo da gestação.<br>This is a scientific literature review about nutritional therapy in gestational diabetes mellitus, without date restriction and using the SciELO, PubMed and Medline databases. The results of this review show that nutritional intervention is an important tool for managing gestational diabetes mellitus, and potentially benefits the mother's and fetal health. Nutritional status assessment of the mother should include anthropometric, dietary, biochemical, clinical and functional indicators. In this way, dietary assessment should be thorough, paying attention to the number and kind of meals, and the food groups present. The distribution of macronutrients in relation to the total energy intake per day should be 45-65% carbohydrates, 15-20% proteins and 20-35% lipids. The allowed sweeteners are acesulfame K, aspartame, neotame, saccharin and sucralose. Physical activity should also be included in the strategy to treat diabetes mellitus but the impact of physical activity on neonatal complications still requires minute testing. In addition, some studies have associated nutritional counseling skill with greater adherence to dietary recommendations. Several measures should be taken to ensure successful management of gestational diabetes mellitus, including participation of an inter and multidisciplinary team, early prenatal care with opportune nutritional care, and guaranteed quality care during pregnancy

How does cognition evolve? Phylogenetic comparative psychology

Now more than ever animal studies have the potential to test hypotheses regarding how cognition evolves. Comparative psychologists have developed new techniques to probe the cognitive mechanisms underlying animal behavior, and they have become increasingly skillful at adapting methodologies to test multiple species. Meanwhile, evolutionary biologists have generated quantitative approaches to investigate the phylogenetic distribution and function of phenotypic traits, including cognition. In particular, phylogenetic methods can quantitatively (1) test whether specific cognitive abilities are correlated with life history (e.g., lifespan), morphology (e.g., brain size), or socio-ecological variables (e.g., social system), (2) measure how strongly phylogenetic relatedness predicts the distribution of cognitive skills across species, and (3) estimate the ancestral state of a given cognitive trait using measures of cognitive performance from extant species. Phylogenetic methods can also be used to guide the selection of species comparisons that offer the strongest tests of a priori predictions of cognitive evolutionary hypotheses (i.e., phylogenetic targeting). Here, we explain how an integration of comparative psychology and evolutionary biology will answer a host of questions regarding the phylogenetic distribution and history of cognitive traits, as well as the evolutionary processes that drove their evolution

Verbal fluency in adults diagnosed with attention-deficit hyperactivity disorder (ADHD) in childhood

It has been increasingly believed that attention-deficit hyperactivity disorder (ADHD) is a disorder with lifelong course associated with cognitive difficulties including among others, language production, verbal learning, and verbal fluency. However, research is limited to children and adolescents, and very few researchers have examined the impact of ADHD in adulthood on the cognitive domain. The aim of the present study is to examine the performance of adults, diagnosed with ADHD in childhood, on semantic and phonemic verbal fluency tasks. It is hypothesized that adults with ADHD will perform worse on both tasks than matched controls. Sixty university students (30 diagnosed with ADHD in childhood and 30 matched controls) of mean age 20.5 participated in the study. They all completed two verbal fluency tasks. The ADHD group had statistically significant lower scores than the non-ADHD group on the phonemic, but not the semantic task. The study provides some evidence that ADHD in childhood has a negative impact on adults' phonemic verbal fluency. This finding could be probably explained by the fact that phonemic fluency is considered more cognitively demanding and impacting more on the frontal lobe functions, known to be impaired in ADHD, than semantic fluency. © 2013 Springer-Verlag Wien

The environmental context of human evolutionary history in Eurasia and Africa.

This review has three main aims: (1) to make specific predictions about the habitat of the hypothetical last common ancestor of the chimpanzee/bonobo–human clade; (2) to outline the major trends in environments between 8–6 Ma and the late Pleistocene; and (3) to pinpoint when, and in some cases where, human ancestors evolved to cope with the wide range of habitats they presently tolerate. Several lines of evidence indicate that arboreal environments, particularly woodlands, were important habitats for late Miocene hominids and hominins, and therefore possibly for the last common ancestor of the chimpanzee/bonobo–human clade. However, as there is no clear candidate for this last common ancestor, and because the sampling of fossils and past environments is inevitably patchy, this prediction remains a working hypothesis at best. Nonetheless, as a primate, it is expected that the last common ancestor was ecologically dependent on trees in some form. Understanding past environments is important, as palaeoenvironmental reconstructions provide the context for human morphological and behavioural evolution. Indeed, the impact of climate on the evolutionary history of our species has long been debated. Since the mid-Miocene, the Earth has been experiencing a general cooling trend accompanied by aridification, which intensified during the later Pliocene and Pleistocene. Numerous climatic fluctuations, as well as local, regional and continental geography that influenced weather patterns and vegetation, created hominin environments that were dynamic in space and time. Behavioural flexibility and cultural complexity were crucial aspects of hominin expansion into diverse environments during the Pleistocene, but the ability to exploit varied and varying habitats was established much earlier in human evolutionary history. The development of increasingly complex tool technology facilitated re-expansion into tropical forests. These environments are difficult for obligate bipeds to negotiate, but their exploitation was accomplished by archaic and/or anatomically modern humans independently in Africa and south-east Asia. Complex social behaviour and material culture also allowed modern humans to reach some of the most hostile regions of the globe, above the Arctic Circle, by the late Pleistocene. This, with colonization of the Americas and Australasia, established Homo sapiens as a truly cosmopolitan species