Background: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who…

This paper discusses language use and identity patterns in ethnic minority/ethnically heterogeneous multigenerational deaf families in Romania, where at least one of the family members belongs to the ethnic Hungarian minority. Early childhood and school linguistic socialization, language use within the family, and cross-generational transmission…

The COVID-19 pandemic forced the adoption of online laboratories. The present article discusses the virtual laboratories used by students. The questions posed by students provided targeted teaching opportunities.

Face recognition difficulties are common in autism and could be a consequence of perceptual atypicalities that disrupt the ability to integrate current and prior information. We tested this theory by measuring the strength of serial dependence for faces (i.e. how likely is it that current perception of a face is biased towards a previously seen…

Storytelling can stimulate learning by delivering scientific content within a narrative that increases comprehension and engagement. In this article I describe the coevolutionary arms race between toxic newts and predatory garter snakes. This engaging story centers on the use of a deadly neurotoxin called tetrodotoxin (TTX) as an antipredator…

Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…

Our aim was to use theta coherence as a quantitative trait to investigate the relation of the polymorphisms in "NKCC1" (rs3087889) and "KCC2" (rs9074) channel protein genes to autistic traits (AQ) in neurotypicals. Coherence values for candidate connection regions were calculated from eyes-closed resting EEGs in two independent…

The final year of a biochemistry degree is usually a time to experience research. However, laboratory-based research projects were not possible during COVID-19. Instead, we used open datasets to provide computational research projects in metagenomics to biochemistry undergraduates (80 students with limited computing experience). We aimed to give…

Raman scattering spectroscopies are important analytical tools in modern chemistry. Here, we describe the construction of the unamplified Raman scattering analysis (URSA) instrument: an inexpensive, open-table Raman spectrometer that uses a 532 nm diode-pumped laser as a light source. Upon application of this spectrometer to DNA extracted from…

Innovative approaches to teaching genetics are essential for improving student engagement and comprehension in this challenging field. Laboratory-based instruction enhances engagement with the subject while fostering the development of practical competencies and deepening comprehension of theoretical concepts. However, constraints on time and…

Multicultural science education advocates that science education should pay attention to the uniqueness of students from different backgrounds. In developing instructional strategies, educators should respect students' differences according to their culture. However, In Taiwan, while Darwin's theory of evolution is taught in high school biology,…

Adaptive behaviour refers to the everyday skills that individuals are expected to have to function independently, based on their age and societal norms. Currently, we know little about the role of genetic and environmental factors in parent-rated adaptive behaviours in early infancy. The aim of this study was to investigate the aetiological…

Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times…

To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving…

3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior…