This study aimed to develop and validate machine learning models to predict intensities in children and adolescents with cystic fibrosis (CF) across different accelerometry brands and placements. Thirty-five children and adolescents with CF (11.6 ± 2.8 yrs; 15 girls) and 28 healthy youth (12.2 ± 2.7 yrs; 16 girls) performed six activities whilst…

There is emerging interest on the interactions between modelling and argumentation in specific contexts, such as genetics learning. It has been suggested that modelling might help students understand and argue on genetics. We propose modelling gene expression as a way to learn molecular genetics and diseases with a genetic component. The study is…

In language learning, aided language modeling refers to the method by which communication partners provide models of the communication system used by individuals with complex communication repertoires that involving both symbols and speech. Providing aided language models creates opportunities for individuals with complex communication repertoires…

The broader autism phenotype (BAP) is a term applied to individuals with personality and cognitive traits that are similar to but milder than those observed in autism spectrum disorder (ASD). Subtle autistic traits in the core diagnostic domains of social communication and rigid behavior were described in family members of people with an ASD even…

This is the first study to evaluate an autism intervention model, the parent-delivered Early Start Denver Model (P-ESDM), for young children with fragile X syndrome (FXS), a known genetic disorder associated with autism spectrum disorder. Four parent-child dyads participated in a low-intensity, parent coaching model of the P-ESDM to evaluate…

Emerging findings from studies with infants at familial high risk for autism spectrum disorder (ASD), owing to an older sibling with a diagnosis, suggest that those who go on to develop ASD show early impairments in the processing of stimuli with both social and non-social content. Although ASD is defined by social-communication impairments and…

Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers…

The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet expansion that inhibits the expression of the "FMR1" gene. The gene product, the Fragile X Mental Retardation Protein (FMRP), regulates mRNA metabolism in brain…

Contemporary genomics research will impact the daily practice of biology teachers who want to teach up-to-date genetics in secondary education. This article reports on a research project aimed at enhancing biology teachers' expertise for teaching genetics situated in the context of genetic testing. The increasing body of scientific knowledge…

There is a very substantial literature over the past 50 years on the advantages of early detection and intervention on the cognitive, communicative, and social-emotional development of infants and toddlers at risk for developmental delay due to premature birth or social disadvantage. Most of these studies excluded children with severe delays or…

The vast majority of energy necessary for cellular function is produced in mitochondria. Free-radical production and apoptosis are other critical mitochondrial functions. The complex structure, electrochemical properties of the inner mitochondrial membrane (IMM), and genetic control from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are…

Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other…

The transgenic mouse model is useful for studying the causes and potential cures for human genetic diseases. Exposing high school biology students to laboratory experience in developing transgenic animal models is logistically prohibitive. Computer-based simulation, however, offers this potential in addition to advantages of fidelity and reach.…

Background: Clinical heterogeneity of autism likely hinders efforts to find genes associated with this complex psychiatric disorder. Some studies have produced promising results by restricting the sample according to the expression of specific familial factors or components of autism. Previous factor analyses of the restricted, repetitive…

Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…