The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our…

In this paper I suggest a pragmatic model for the notion of 'information' used in molecular biology in the description of protein synthesis. Discarding any ontological commitments of the term 'information', I propose a view of information based on an analogy with communication. This view could at least supplement the existing information-metaphor…

The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…

Active learning is centered on students and encourages them to participate in various classroom activities, with the teacher as a facilitator. Students are expected to develop multiple 21st-century skills through an active learning process, including digital and scientific literacies. Numerous studies demonstrate that students lack digital and…

Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing…

Concerns around comprehension and recall of consent information by research participants have typically been associated with low health and research literacy levels. In genomics research, this concern is heightened as the scientific and ethical complexities of genetics research, such as biobanking, genetic susceptibility, data sharing, and…

Examining community views on genetic/epigenetic research allows collaborative technology development. Parent perspectives toward genetic/epigenetic testing for autism spectrum disorder (ASD) are not well-studied. Parents of children with ASD (n = 131), non-ASD developmental delay (n = 39), and typical development (n = 74) completed surveys…

Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…

To learn to read, the brain must repurpose neural systems for oral language and visual processing to mediate written language. We begin with a description of computational models for how alphabetic written language is processed. Next, we explain the roles of a dorsal sublexical system in the brain that relates print and speech, a ventral lexical…

Objective: Familial hypercholesterolaemia (FH), an autosomal dominant disorder causing elevated low-density lipoprotein (LDL) cholesterol from birth resulting in premature cardiovascular disease, is only diagnosed in 10% of affected patients. This study involved partnering with patients with FH and with primary care providers (PCPs) to understand…

This article provides two activities, exploring genetic drift of small breeding populations, highlighting the black-footed ferret ("Mustela nigripes"). According to the U.S. Fish and Wildlife service, all black-footed ferrets are descended from 18 individuals, making them extremely vulnerable to genetic drift. They were thought to be…

Results from a genome-wide association study (GWAS) can be used to generate a polygenic score (PGS), an individual-level measure summarizing identified genetic influence on a trait dispersed across the genome. For complex, behavioral traits, the association between an individual's PGS and their phenotype may contain bias (from geographic,…

Children with attention deficit hyperactivity disorder (ADHD) often experience co-occurring emotional problems. ADHD with this comorbidity is associated with poorer outcomes than ADHD without comorbidity. Better understanding of the etiology of comorbidity could improve prevention of negative outcomes for children with ADHD. The sample consisted…

Understanding genetics is one of the most significant learning difficulties faced by students. To improve teaching genetics and the students' representational competence within the classroom have been proposed using multiple representations. This study presents an analysis of representational levels used by high school students learning Mendelian…

Even though genetics has been implemented in biology curricula at secondary schools for decades, reports repeatedly indicate that students still hold various misconceptions about this topic. To successfully target these misconceptions, we need to know their nature and origin. We aimed to investigate these properties in the Czech educational system…