Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…

Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…

Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that affect an estimated 1 in 110 individuals. Although there is a strong genetic component associated with these disorders, this review focuses on the multifactorial nature of ASD and how different genome-wide (genomic) approaches contribute to our understanding of autism.…

Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should…

Structural variation of the human genome sequence is the insertion, deletion, or rearrangement of stretches of DNA sequence sized from around 1,000 to millions of base pairs. Over the past few years, structural variation has been shown to be far more common in human genomes than previously thought. Very little is currently known about the effects…

Gene expression is one of the main molecular processes regulating the differentiation, development, and functioning of cells and tissues. In this review a handful of relevant terms and concepts are introduced and the most common techniques used in studies of gene expression/expression profiling (also referred to as studies of the transcriptome or…

Variations in phenotype reflect the influence of environmental conditions during development on cellular functions, including that of the genome. The recent integration of epigenetics into developmental psychobiology illustrates the processes by which environmental conditions in early life structurally alter DNA, providing a physical basis for the…

There is a scarcity of empirically validated treatments for infants and toddlers under age 3 years with autism spectrum disorders (ASD), as well as a scarcity of empirical investigation into successful intervention characteristics for this population. Yet early screening efforts are focused on identifying autism risk in children under age 3 years.…

Childhood-onset schizophrenia is an exceedingly rare mental illness whose complex, multifaceted behavioral presentation can disrupt child development and raise diagnostic and treatment difficulties for attending clinicians. The disorder, affecting one in 30,000 children, shares the same diagnostic criteria and symptoms as its adult counterpart,…

Introduces a special section of five articles that highlight new collaborative research opportunities for developmental psychologists and other biomedical researchers. Such research has focused on the transition from fetus to newborn, evaluation of early toxin exposure, and the behavioral phenotype associated with genetic syndromes. (MDM)

Argues that a thorough understanding of factors that influence aggression in children cannot be achieved without including behavior genetic studies that allow examination of the effects of shared versus non-shared environment, as well as genes, on aggressive behaviors. Details the growing body of evidence on the genetic effects on aggression.…

Illustrates contribution of genetic and environmental factors to differential ratings of within-family behavior and environmental differences. Maintains that, assuming differential ratings are a linear function of underlying trait differences, it is simple to recover within-family statistics, offering a more legitimate basis than comparing mean…

Shares findings from past and current research into Down syndrome and makes suggestions for future research. The contributions of medical, genetic, and psychological research are reviewed, along with findings relating to the neuropathology of Down syndrome, prenatal screening for Down syndrome, life expectancy, and obstacles to learning. (CR)

Examines perspectives on family influences on child development. Maintains that genetic and biological factors and parental actions/attitudes make important contributions to individual differences. Draws on research on gender differences and conduct disorders to illustrate that parental influence on individual differences within cultures has been…

Drawing on research evidence from across the world, this book offers a wide-ranging perspective on the ways in which we understand and study young children. The book summarizes current debates in child development, and looks at different ways of understanding early childhood and the various methods used to gain understanding, featuring: (1)…