Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Expressed emotion (EE) is a measure of the family’s emotional climate and has been shown to be associated with a range of symptoms and psychiatric outcomes in individuals with various disabilities. In addition, growing evidence suggests that high levels of family distress are associated with high EE.
We used Latent Profile Analyses to derive four profiles of infant temperament from 990 twins at 6 and 12 months of age using observed infant behavior. Parents reported on their own emotional experiences.
Low bone mineral density (BMD) and subsequent skeletal fragility have emerged as a long-term complication of phenylketonuria (PKU). The object of this study is to determine if there are differences in BMD and body composition between male and female participants with PKU.
Approximately 1 in 20 people experience a kind of "mixing of the senses", known as synesthesia. In the type of synesthesia we are investigating here, "grapheme‐color synesthesia" letters and numbers (collectively referred to as graphemes) automatically and involuntarily elicit color experiences (top section). This type of synesthesia affects approximately 1% of the population.
Transplantation of human pluripotent stem cell (hPSC)-derived neurons into chick embryos is an established preliminary assay to evaluate engraftment potential. Yet, with recent advances in deriving diverse human neuronal subtypes, optimizing and standardizing such transplantation methodology for specific subtypes at their correlated anatomical sites is still required.
Trisomy 21 (Down syndrome; DS) leads to an overproduction of amyloid precursor protein and an increased risk for early Alzheimer’s disease. A study of the natural history of AD-related neuropathology is ongoing to gain an understanding of the distribution and time course of b-amyloid and tau burden in the brains of adults with DS.
Defining the full spectrum of human disease associated with a biomarker is necessary to advance the biomarker into clinical practice. We hypothesize that associating biomarker measurements with EHR populations based on shared genetic architectures would establish the clinical epidemiology of the biomarker.
The auditory efferent system (ES) originates in the auditory cortex and terminates in the cochlea (inner ear). The activity of the ES has several hypothesized implications for human hearing: facilitating speech understanding in noisy environments, protecting the sensitive inner ear against loud noise, and serving as biological markers of damage in the auditory system.
Neuropathology of the Down syndrome cerebral cortex includes fewer interneurons in upper cortical layers.
To test the hypothesis that cognitively unimpaired individuals with Alzheimer disease (AD) neuropathology differ from individuals with AD dementia on biomarkers of neurodegeneration, synaptic dysfunction, and glial activation.
