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…

The aim of the study was to perform family-based association analysis of "PRKCB1," "CBLN1" and "KCNMB4" gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the…

Adults with Williams syndrome (WS) display hypersocial behaviors and experience social skills deficits. To improve social outcomes, we evaluated the feasibility, acceptability, and preliminary efficacy of an 8-week distance-delivered social skills program for adults with WS. Sessions were offered twice a week for 90 min. Twenty-four adults with WS…

Past research shows that individuals with Williams syndrome (WS) have heightened and prolonged eye contact. Using parent report measures, we examined not only the presence of eye contact but also its qualitative features. Study 1 included individuals with WS (n = 22, ages 6.0-36.3). Study 2 included children with different neurodevelopmental (ND)…

This study aimed to provide a deeper understanding of high school students' errors while solving genetics problems. Four students were asked to solve two genetics problems and participate in a modified think-aloud interview. Data from the interview, video clips of the problem-solving process, and test sheets were used to analyse participants'…