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…

Background: Genetically Williams syndrome (WS) promises to provide essential insight into the pathophysiology of cortical development because its ~28 deleted genes are crucial for cortical neuronal migration and maturation. Phenotypically, WS is one of the most puzzling childhood neurodevelopmental disorders affecting most intellectual…

Both self-report and industrial hygienist (IH) assessed parental occupational information were used in this pilot study in which 174 families (93 children with ASD and 81 unaffected children) enrolled in the Childhood Autism Risks from Genetics and Environment study participated. IH results indicated exposures to lacquer, varnish, and xylene…

Using a single case design, a parent-mediated spoken-language intervention was delivered to three mothers and their school-aged sons with fragile X syndrome, the leading inherited cause of intellectual disability. The intervention was embedded in the context of shared storytelling using wordless picture books and targeted three empirically derived…

This study focused on the degree of report bias in assessing autistic traits. Both parents of 124 preschoolers completed the Social Communication Questionnaire and the Autism-spectrum Quotient. Acceptable agreement existed between mother and father reports of children's mean scores of autistic traits, but interrater reliability for rank-order…

Research Findings: Evolution by natural selection is often relegated to the high school curriculum on the assumption that younger students cannot grasp its complexity. We sought to test that assumption by teaching children ages 4-12 (n = 96) a selection-based explanation for biological adaptation and comparing their success to that of adults…

Podcasts are digital files very popular in several and very distinct areas. In higher education, they have been explored in a multitude of ways mainly to support teaching and learning processes. The study here described focuses the integration of podcasts in Heredity and Evolution, a course from the Biology and Geology Degree Program at University…

The ability to interpret and reason from Tree of Life (ToL) diagrams has become a vital component of science literacy in the 21st century. This article reports on the effectiveness of a research-based curriculum, including an instructional booklet, laboratory, and lectures, to teach the fundamentals of such tree thinking in an introductory biology…

In this study, we investigate museum visitor learning and engagement at an interactive visualization of an evolutionary tree of life consisting of over 70,000 species. The study was conducted at two natural history museums where visitors collaboratively explored the tree of life using direct touch gestures on a multi-touch tabletop display. In the…

Epidermolysis Bullosa (EB) is a chronic disease, some types of which may have morbidity and mortality. That is why the patients must receive multidisciplinary care in case any complications arise. Families must be informed about the disease, about home care and receive genetic counselling. The importance of genetic counselling cannot be stressed…

Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be…

The study aims at identifying characteristic phenotypes for children with SLI and children with sensorineural hearing impairment (HI) in language and in domains associated with language. We focus on verbal agreement inflection and phonological short-term memory, phenomena that have been repeatedly found to be impaired in both groups of children. A…

The present study used nationally representative data from the U.S. Panel Study of Income Dynamics (PSID) merged with census-track data from the American Community Survey (ACS) to model race-ethnic disparities in overweight, obesity, and obesity-related disease among children and adolescents as a function of neighborhood race-ethnic segregation,…

Active-learning strategies "can" improve science, technology, engineering, and mathematics (STEM) undergraduates' abilities to learn fundamental concepts and skills. However, the results instructors achieve vary substantially. One explanation for this is that instructors commonly implement active learning differently than intended. An…

Each year, the Interagency Autism Coordinating Committee (IACC) releases a list of scientific advances that represent significant progress in the field. The "2017 Summary of Advances" provides short, plain language summaries of the top research breakthroughs selected by the IACC from a pool of research articles nominated by the members.…