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.…

This paper describes a biomedical engineering experiment that introduces students to rheology. Healthy and sickle-cell blood analogs are prepared that are composed of chitosan particles suspended in aqueous glycerol solutions, which substitute for RBCs and plasma, respectively. Students study flow properties of the blood analogs with a viscometer…

Research exploring the possible link between quality of argumentation and content knowledge is not straightforward. Some studies suggest a positive relationship (e.g. Dawson & Schibeci in "J Biol Educ" 38(1):7-12, 2003) while others do not (e.g. Zohar & Nemet in "J Res Sci Teach" 39:35-62, 2002). This study examined the…

Adaptive behavior requires focusing on relevant tasks while remaining sensitive to novel information. In adult studies of cognitive control, cognitive stability involves maintaining robust cognitive representations while cognitive flexibility involves updating of representations in response to novel information. Previous adult research has shown…

The developmental disorder Williams syndrome (WS) has been associated with an atypical social profile of hyper-sociability and heightened social sensitivity across the developmental spectrum. In addition, previous research suggests that both children and adults with WS have a predisposition towards anxiety. The current research aimed to explore…

Background: Scientific enthusiasm about gene × environment interactions, spurred by the 5-HTTLPR (serotonin transporter-linked polymorphic region) × SLEs (stressful life events) interaction predicting depression, have recently been tempered by sober realizations of small effects and meta-analyses reaching opposing conclusions. These mixed findings…

Purpose: This study investigated the etiology of late language emergence (LLE) in 24-month-old twins, considering possible twinning, zygosity, gender, and heritability effects for vocabulary and grammar phenotypes. Method: A population-based sample of 473 twin pairs participated. Multilevel modeling estimated means and variances of vocabulary and…

The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the "Broad Autism Phenotype Questionnaire" (BAPQ), "Social Responsiveness Scale: Adult Research Version" (SRS:ARV), and "Family…

Epigenetic modifications of chromatin structure provide a mechanistic interface for gene-environment interactions that impact the individualization of health trajectories across the lifespan. A growing body of research indicates that dysfunctional epigenetic regulation contributes to poor cognitive outcomes among aged populations. Here we review…

The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5-9 years. The mean age at diagnosis was 43.7 [plus or minus] 17.6 months. Significantly earlier diagnoses were noted in children…