Explore the vast range of titles available.

The genetics of autism The autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs are highly heritable, yet the underlying genetic determinants remain largely unknown. A genome-wide analysis reveals that people with ASDs carry a higher load of rare copy-number variants — segments of DNA for which the copy number differs between individual genomes — which are either inherited or arise de novo . The results implicate several novel genes as ASD candidates and point to the importance of cellular proliferation, projection and motility as well as specific signalling pathways in this disorder. The autistic spectrum disorders (ASDs) are highly heritable, yet the underlying genetic determinants remain largely unknown. Here, a genome-wide analysis of rare copy number variants (CNVs) has been carried out, revealing that ASD sufferers carry a higher load of rare, genic CNVs than do controls. Many of these CNVs are de novo and inherited. The results implicate several novel genes in ASDs, and point to the importance of cellular proliferation, projection and motility, as well as specific signalling pathways, in these disorders. The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours 1 . Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability 2 . Although ASDs are known to be highly heritable (∼90%) 3 , the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 × 10 -4 ). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1 , DLGAP2 and the X-linked DDX53–PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

Investing in young children is the responsible thing to do. All children deserve a chance to grow into healthy, educated, and competent people, no matter where and when they were born. While parents bear most of the responsibility for raising their children, especially in the early years of life, governments also have an important role during this critical time of human capital accumulation. For example, governments can ensure that all expectant mothers and young children have access to quality health services and nutrition. They can support parents and other caregivers in providing a positive and stimulating environment for children from birth on by promoting parenting information programs, investing in direct services such as home-based visits, funding daycare centers and preschools, or providing financial incentives to access good quality programs for infants and children. This Early Childhood Development (ECD) guide presents lessons and experiences that have been useful in informing the policy debate about ECD interventions and the design of such programs across the world. Whether the user of this guide is at the initial stage of deciding whether to expand an ECD portfolio or already in the program design stage, the content offers a range of evidence- based options to inform policy and investment choices.

Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents. For this pooled analysis, we used a database of cardiometabolic risk factors collated by the Non-Communicable Disease Risk Factor Collaboration. We applied a Bayesian hierarchical model to estimate trends from 1985 to 2019 in mean height and mean BMI in 1-year age groups for ages 5–19 years. The model allowed for non-linear changes over time in mean height and mean BMI and for non-linear changes with age of children and adolescents, including periods of rapid growth during adolescence. We pooled data from 2181 population-based studies, with measurements of height and weight in 65 million participants in 200 countries and territories. In 2019, we estimated a difference of 20 cm or higher in mean height of 19-year-old adolescents between countries with the tallest populations (the Netherlands, Montenegro, Estonia, and Bosnia and Herzegovina for boys; and the Netherlands, Montenegro, Denmark, and Iceland for girls) and those with the shortest populations (Timor-Leste, Laos, Solomon Islands, and Papua New Guinea for boys; and Guatemala, Bangladesh, Nepal, and Timor-Leste for girls). In the same year, the difference between the highest mean BMI (in Pacific island countries, Kuwait, Bahrain, The Bahamas, Chile, the USA, and New Zealand for both boys and girls and in South Africa for girls) and lowest mean BMI (in India, Bangladesh, Timor-Leste, Ethiopia, and Chad for boys and girls; and in Japan and Romania for girls) was approximately 9–10 kg/m2. In some countries, children aged 5 years started with healthier height or BMI than the global median and, in some cases, as healthy as the best performing countries, but they became progressively less healthy compared with their comparators as they grew older by not growing as tall (eg, boys in Austria and Barbados, and girls in Belgium and Puerto Rico) or gaining too much weight for their height (eg, girls and boys in Kuwait, Bahrain, Fiji, Jamaica, and Mexico; and girls in South Africa and New Zealand). In other countries, growing children overtook the height of their comparators (eg, Latvia, Czech Republic, Morocco, and Iran) or curbed their weight gain (eg, Italy, France, and Croatia) in late childhood and adolescence. When changes in both height and BMI were considered, girls in South Korea, Vietnam, Saudi Arabia, Turkey, and some central Asian countries (eg, Armenia and Azerbaijan), and boys in central and western Europe (eg, Portugal, Denmark, Poland, and Montenegro) had the healthiest changes in anthropometric status over the past 3·5 decades because, compared with children and adolescents in other countries, they had a much larger gain in height than they did in BMI. The unhealthiest changes—gaining too little height, too much weight for their height compared with children in other countries, or both—occurred in many countries in sub-Saharan Africa, New Zealand, and the USA for boys and girls; in Malaysia and some Pacific island nations for boys; and in Mexico for girls. The height and BMI trajectories over age and time of school-aged children and adolescents are highly variable across countries, which indicates heterogeneous nutritional quality and lifelong health advantages and risks. Wellcome Trust, AstraZeneca Young Health Programme, EU.

Key Points Twin and familial studies reveal that autism spectrum disorder (ASD) traits are highly heritable. The genetic landscape of ASD is made of common and rare variants and can be different from one individual to another. Most of the ASD-risk genes are involved in chromatin remodelling, regulation of protein synthesis and degradation, or synaptic plasticity. In cellular and animal models, mutations in the ASD-risk genes lead to a distortion of typical neuronal connectivity by decreasing or increasing synapse strength or number. Compensatory mechanisms, such as genetic buffering and synaptic homeostasis, could modulate the severity of these mutations. Recent years have seen considerable interest in the genetics of autism spectrum disorder (ASD). In this Review, Thomas Bourgeron examines the genetic architecture of this disorder and how ASD-linked mutations might affect synaptic plasticity, before exploring the synaptic homeostasis hypothesis of ASD. Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been linked to these disorders encode synaptic scaffolding proteins, receptors, cell adhesion molecules or proteins that are involved in chromatin remodelling, transcription, protein synthesis or degradation, or actin cytoskeleton dynamics. Changes in any of these proteins can increase or decrease synaptic strength or number and, ultimately, neuronal connectivity in the brain. In addition, when deleterious mutations occur, inefficient genetic buffering and impaired synaptic homeostasis may increase an individual's risk for ASD.

Children are already learning at birth, and they develop and learn at a rapid pace in their early years. This provides a critical foundation for lifelong progress, and the adults who provide for the care and the education of young children bear a great responsibility for their health, development, and learning. Despite the fact that they share the same objective - to nurture young children and secure their future success - the various practitioners who contribute to the care and the education of children from birth through age 8 are not acknowledged as a workforce unified by the common knowledge and competencies needed to do their jobs well. Transforming the Workforce for Children Birth Through Age 8 explores the science of child development, particularly looking at implications for the professionals who work with children. This report examines the current capacities and practices of the workforce, the settings in which they work, the policies and infrastructure that set qualifications and provide professional learning, and the government agencies and other funders who support and oversee these systems. This book then makes recommendations to improve the quality of professional practice and the practice environment for care and education professionals. These detailed recommendations create a blueprint for action that builds on a unifying foundation of child development and early learning, shared knowledge and competencies for care and education professionals, and principles for effective professional learning. Young children thrive and learn best when they have secure, positive relationships with adults who are knowledgeable about how to support their development and learning and are responsive to their individual progress. Transforming the Workforce for Children Birth Through Age 8 offers guidance on system changes to improve the quality of professional practice, specific actions to improve professional learning systems and workforce development, and research to continue to build the knowledge base in ways that will directly advance and inform future actions. The recommendations of this book provide an opportunity to improve the quality of the care and the education that children receive, and ultimately improve outcomes for children.

A landmark publication in the field, this state of the art reference work, with contributions from leading thinkers across a range of disciplines, is an essential guide to the study of children and childhood, and sets out future research agendas for the subject.

The nineteenth and twentieth centuries saw a dramatic shift in the role of children in American society and families. No longer necessary for labor, children became economic liabilities and twentieth-century parents exhibited a new level of anxiety concerning the welfare of their children and their own ability to parent effectively. What caused this shift in the ways parenting and childhood were experienced and perceived? Why, at a time of relative ease and prosperity, do parents continue to grapple with uncertainty and with unreasonable expectations of both themselves and their children? Peter N. Stearns explains this phenomenon by examining the new issues the twentieth century brought to bear on families. Surveying popular media, *#8220;expert” childrearing manuals, and newspapers and journals published throughout the century, Stearns shows how schooling, physical and emotional vulnerability, and the rise in influence of commercialism became primary concerns for parents. The result, Stearns shows, is that contemporary parents have come to believe that they are participating in a culture of neglect and diminishing standards. Anxious Parents: A Modern History of Childrearing in America shows the reasons for this belief through an historic examination of modern parenting.

This book is the first comprehensive history of the development of child study during the early part of the twentieth century. Most nineteenth-century scientists deemed children unsuitable subjects for study, and parents were hostile to the idea. But by 1935, the study of the child was a thriving scientific and professional field. Here, Alice Boardman Smuts shows how interrelated movements-social and scientific-combined to transform the study of the child. Drawing on nationwide archives and extensive interviews with child study pioneers, Smuts recounts the role of social reformers, philanthropists, and progressive scientists who established new institutions with new ways of studying children. Part history of science and part social history, this book describes a fascinating era when the normal child was studied for the first time, a child guidance movement emerged, and the newly created federal Children's Bureau conducted pathbreaking sociological studies of children.