"ATRX" mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic…

Recent advances in genomics make it possible to predict individual differences in education from polygenic scores that are person-specific aggregates of inherited DNA differences. Here, we systematically reviewed and meta-analyzed the strength of these DNA-based predictions for educational attainment (e.g., years spent in full-time education) and…

This study examines the challenges of humanism and education in the 21st century as addressed by the German philosopher Peter Sloterdijk in his Elmau Speech (1999). In this lecture, titled "Rules for the Human Zoo", Sloterdijk argues that the traditional notion of humanism, specifically "humanism as a literary society," has…

While 10% of the U.S. population are afflicted with a rare disease, patients with a rare disease can have a difficult time finding a provider or useful information. Patients with rare diseases are often frustrated by lack of knowledge from their provider, lack of satisfaction with their provider, and lack of available time with their provider.…

The Penn Computerized Neurocognitive Battery (CNB) is a collection of tests validated using neuroimaging, genetics, and other criteria. An updated version of the CNB was constructed in which all tests were converted to either computerized adaptive (CAT) or abbreviated forms. In a mixed community/clinical sample (N = 307; mean age = 25.9 years;…

Background: Lower parental nurturance is consistently associated with higher levels of youth antisocial behavior (ASB), but the etiology of this association remains unclear. To fill this gap, we employed a twin differences approach to illuminate the environmental and genetic origins of the association between parental nurturance and children's…

Genetics is a fundamental topic in Biology, yet its abstract nature presents challenges in the learning process. Effective teaching of genetics concepts requires appropriate instructional approaches to facilitate student understanding. The success of learning outcomes depends on various components, including teachers, students, learning…

A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to…

Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental…

Laboratory experience is vital to undergraduate science education. It allows students to observe and conduct engaging experiments to enhance their skills and literacy, helps them retain knowledge, and deepens their understanding of related content covered in lectures. This paper reports a 4-week undergraduate laboratory exercise on…

Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a theory-informed qualitative…

Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and…

Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic…

The gut microbiota was reported to differ between children with autism spectrum disorder (ASD) and typically developing (TD) children, and dysbiosis of the gut microbiota in preterm infants is common. Here, we explored the characteristics of gut microbiota in children born preterm with ASD. We performed 16S rRNA gene sequencing using stool samples…

Genotyping real alleles in real people is an excellent way to connect abstract genetics concepts to human variation in the classroom; however, these activities can inadvertently promote misconceptions of the power of genetics to determine individual and group traits. By analyzing our own and others' experiences of genotyping activities in the…