Preliminary evidence from the Childhood Joint Attention Rating Scale (C-JARS; Mundy et al., 2017) suggests symptoms related to diminished joint attention and the spontaneous sharing of experience with others can be assessed with a parent-report measure in children and adolescents with autism. This study was designed to expand on the previous study ...
Pregnancy is a time of high metabolic coordination, as maternal metabolism adapts to support the growing fetus. Many of these changes are coordinated by the placenta, a critical fetal endocrine organ and the site of maternal-fetal crosstalk. Dysregulation in maternal and placental metabolism during pregnancy has been linked to adverse outcomes, inc...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the pervasive physical and cognitive effects of FXTAS, no studies have examined language in symptomatic males and females, limiting utility as an outcome measure in clinical trials of...
BackgroundIndividuals with intellectual disabilities experience barriers to quality healthcare. To reduce this disparity, equipping medical trainees with the knowledge and skills required for treating this patient population is critical. Our aim is to describe the breadth of instructional interventions and identify gaps in intellectual disability m...
ObjectivesAutism spectrum disorder (ASD) is estimated to be ∼10 times higher in children with versus without an autistic sibling in population-based studies. Prospective studies of infant siblings have revealed even higher familial recurrence rates. In the current prospective longitudinal study, we provide updated estimates of familial ASD recurren...
Human cell line models, including the neuronal precursor line LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS results from loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergen...
Ensuring effective use of evidence-based practice (EBP) for autism in schools is imperative due to the significantly increasing number of autistic students receiving school services each year. High-quality EBP use has proven challenging in schools. Research indicates implementation climate, or how EBP are supported, rewarded, and valued, and EBP re...
IntroductionRecruitment challenges in people with and without Down syndrome (DS) can delay research progress and risk sample bias. This study identified and quantified differences in research attitudes across populations of research enrollment decision-makers for individuals with and without DS.MethodsWe performed analyses using data from two regis...
New school transitions can be challenging for students on the autism spectrum. No published, evidence-based interventions exist to support families and teachers of students transitioning to elementary and secondary school during this critical period. Using Community Partnered Participatory Research, we developed Building Better Bridges (BBB), a car...
Many autism spectrum disorder (ASD)-associated genes act as transcriptional regulators (TRs). Chromatin immunoprecipitation sequencing (ChIP-seq) was used to identify the regulatory targets of ARID1B, BCL11A, FOXP1, TBR1, and TCF7L2, ASD-associated TRs in the developing human and mouse cortex. These TRs shared substantial overlap in the binding sit...
