Motor skills, an important foundation for language and communication, are considerably delayed in children with Down syndrome (DS) and fragile X syndrome (FXS). However, the impact of these impairments on expressive and receptive communication and the phenotypic specificity of these associations remains unknown. Participants included 37 with DS…

Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant…

To retrospectively explore the characteristics of plasma amino acids (PAAs) in children with autism spectrum disorder and their clinical association via case-control study. A total of 110 autistic and 55 healthy children were recruited from 2014 to 2018. The clinical phenotypes included severity of autism, cognition, adaptability, and regression.…

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which…

"DDX[subscript 3]X" variants are a common cause of intellectual disability (ID) in females, and have been associated with autism spectrum disorder and emotional-behavioural difficulties. In this study, we compared phenotypic data for 23 females with "DDX[subscript 3]X" variants, to 23 females with ID and other genetic…

In the context of England, secondary biology education is dominated by sub-organismal systems, such as physiology, often to the detriment of evolution & ecology and impeding an integrated understanding of biology. This paper proposes a framework that teachers could use to help them consider how the learning of physiological and developmental…

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.0 years) and ASD (n = 75, 4.7-55.4 years). The scores…

To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT)--a naturalistic social cognition task--and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared…

Schooling, socioeconomic status (SES), and genetics all impact intelligence. However, it is unclear to what extent their contributions are unique and if they interact. Here we used a multi-trait polygenic score for cognition (cogPGS) with a quasi-experimental regression discontinuity design to isolate how months of schooling relate to intelligence…

Categorizing the various levels of protein and nucleic acid structures is a relatively straightforward concept students understand quickly when shown representative structural images. However, keeping in mind the idea of primary, secondary, and tertiary structure proves more difficult when students are in the laboratory setting simply looking at a…

This descriptive study examines the experiences of virtually-trained new members in a hybrid distributed community of practice (CoP) focused on undergraduate genomics education. We utilized a sequential explanatory mixed methods research design consisting of an engagement survey for all community members (n=124), followed by interviews with new…

The block design task (BDT) is a visuospatial measure that individuals with Williams syndrome (WS) perform poorly on. However, it is unclear what underlies their impaired performance. This study investigated whether poorer performance is a result of visuospatial difficulties, executive function (EF) difficulties, atypical looking strategies, or a…

We describe a novel, university-level, introductory biology course that uses evolution as a narrative framework. Our course conveys the content in an introductory biology course by telling the story of the evolution of life on Earth. We begin with early Earth environments in which biological molecules and processes evolved and led to the first…

The aim of this study was to compare two methodologies employed by the British Cycling talent identification program. Specifically, the authors investigated cyclists selected to represent GB cycling team at the London 2012 Olympics using (a) a traditional talent identification methodology (British Cycling Olympic Development Program), where…