Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4022) with a confirmed…

The purpose of the manuscript is to present to academic teachers, doctors and nutritionists how practical online classes with dietetics students can be used to develop ready-made tools at work and for the education of phenylketonuria (PKU) patients and their caregivers/parents. During online classes in 2020, as part of the subject--diet therapy of…

The CRISPR/Cas9 system opens new horizons (M. Adli, Nat Commun, 2018) regarding genetic modifications of living organisms but also as an in vitro tool in laboratory protocols. Therefore, it boosts possibilities in research and future medical treatments. As the controversial claim of genomically edited babies by He Jiankui (Cyranoski D., Nature,…

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…

Individuals with Autism Spectrum Disorder (ASD) and the Broad Autism Phenotype (BAP) are more likely than individuals with typical development (TD) to report a sexual minority orientation (e.g., Bejerot and Eriksson, PLoS ONE 9:1-9, 2014; DeWinter et al., Journal of Autism and Developmental Disorders 47:2927-2934, 2017; Qualls et al., Journal of…

Relative quantification is a popular analysis in gene expression studies using quantitative real-time PCR (qPCR). However, the calculation steps using the major algorithms for this analysis are rather complicated. In this study, we developed an easy-to-use spreadsheet-based method for relative quantification. The inputs from end-users are the…

Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…

This study investigated the systematic rise in cognitive ability scores over generations, known as the "Flynn Effect," across middle childhood and early adolescence (7-15 years; 291 monozygotic pairs, 298 dizygotic pairs; 89% White). Leveraging the unique structure of the Louisville Twin Study (longitudinal data collected continuously…

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…

The purpose of this research was to determine the effect of the 5E model on the understanding of the molecular genetics concepts taught in general biology. The research had a quantitative focus and a quasi-experimental design, and the participants were 40 undergraduate students from a private university in the west of Puerto Rico, which were…

Globally, critical thinking skills have been acknowledged as an important goal of education and integrated STEM-based approaches have been reported to have the potential to enhance critical thinking. Therefore, this study examined integrated STEM instructional material for genetic learning to increase secondary school biology students' critical…

Future orientation tends to prevent engagement in risk behaviours and results in good academic performance among adolescents. Our study aimed to establish whether genetic factors contributed to future orientation among Chinese adolescents. We recruited 988 pairs of twins from Beijing. By constructing a high-order A (additive genetic variance) C…

Hyperserotonemia, or elevated levels of whole blood serotonin (WB5-HT), was the first biomarker linked to autism spectrum disorder (ASD). Despite numerous studies investigating the etiology of hyperserotonemia, results have been inconsistent. Recent findings suggest a relationship between the immune system and hyperserotonemia. The current study…

Modeling is an important tool in science teaching and learning. Constructing a model instead of replicating one is more meaningful and better supports student learning than analyzing premade models (Firooznia 2015; Gouvea and Passmore 2017; Takemura and Kurabayashi 2014). Models include physical replications of a scientific phenomenon or analyzing…

Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed earlier in life. The focus of this study was the screening of aminoacidopathies in a cohort of patients suspected for IEMs. Methods: Blood samples from healthy (IQ…