Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition for which no prenatal or early life screening tests exist. Early life recognition of ASD is key to accessing behavioral intervention when brain plasticity is at its peak. The purpose of our study was to systematically review the literature researching parental perspectives…

The importance of bioinformatics in current biological research makes bioinformatics education a required course for pre-service biology teachers to become professional biology teachers. This research aimed to develop e-BIMO as a teaching media for bioinformatics education courses towards STEM literacy, considering that STEM literacy is a part…

Using a genetically informed design based on twins, this study tested the association between chronic peer victimization from ages 12 to 17 and later cortisol secretion at age 19 and the moderating effect of social support in this regard. These associations were examined while also considering the effects of genetic factors and concurrent…

Drug studies on Rett syndrome (RTT) have drastically increased over the past few decades. This review aims to provide master data on bench-to-bedside drug studies involving RTT. A comprehensive literature review was performed by searching in PUBMED, MEDLINE and Google Scholar, international, national and regional clinical trial registries and…

In the olfactory bulb, a cAMP/PKA/CREB-dependent form of learning occurs in the first week of life that provides a unique mammalian model for defining the epigenetic role of this evolutionarily ancient plasticity cascade. Odor preference learning in the week-old rat pup is rapidly induced by a 10-min pairing of odor and stroking. Memory is…

Using national data, we examined emergency department (ED) encounters during 2006-2011 for which a diagnosis code for fragile X syndrome (FXS) was present (n = 7,217). Almost half of ED visits coded for FXS resulted in hospitalization, which is much higher than for ED visits not coded for FXS. ED visits among females coded for FXS were slightly…

The educational attainment of siblings is highly correlated. We test for a specific type of peer effect between siblings in educational attainment: genetic nurture. Specifically, we test whether a person's educational attainment is correlated with their sibling's polygenic score (PGS) for educational attainment, controlling for their own PGS for…

Chromosomal abnormalities are now considered a common cause of intellectual disability. With increased genetic testing, phenotyping and technological advancements, many new syndromes have been identified. This review sought to explore parental stress and adjustment in the context of rare genetic syndromes to evaluate their clinical impact. A…

We tested whether empathy is impaired and associated with anxiety in girls with fragile X syndrome (FXS). We measured parent-reported empathy and self-reported anxiety in young girls with FXS and in a developmentally-matched comparison group. Girls with FXS received higher parent-reported scores on cognitive and affective empathy but also…

Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal "UBE3A" gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population. Studies of anxiety in other…

Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9-18 years) with idiopathic…

Despite the potential positive impact of augmentative and alternative communication, the literature suggests that many individuals with disabilities experience barriers in developing communication skills and access to appropriate supports. Parents can provide valuable insight into the barriers and facilitators experienced by their children with…

This study investigated the bidirectional effects of change in maladaptive behaviors among adolescents and adults with fragile X syndrome (FXS) and change in their intergenerational family relationships over a 7.5-year period. Indicators of the intergenerational family relationship between premutation carrier mothers and their adolescent or adult…

The neuropsychological profile associated with sex chromosome trisomies (SCT) is frequently characterised by delays or deficits in linguistic development. Although maternal input could have an important role in influencing and shaping the linguistic development of children with SCT, there is a lack of studies in the literature that have…

Cancer databases collect original cancer studies and patient clinical information into one site that allows for global analysis. While many courses focus on cancer, few utilize these powerful cancer databases. Our goal was to create a lab experience in which students could explore original cancer study databases, looking at the expression and…