Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Amyotrophic lateral sclerosis (ALS) is a late-onset neuromuscular disease with no cure and limited treatment options. Patients experience a gradual paralysis leading to death from respiratory complications on average only 2-5 years after diagnosis.
Title: Comparing tense and agreement productivity in boys with fragile X syndrome, children with developmental language disorder, and children with typical development Legend: Pattern of tense and agreement productivity across boys with fragile X syndrome (FXS), children developmental language disorder (DLD), and children with typical development (TD). The solid line indicates the median and the cross …
Genome editors make targeted changes in the genome and hold great promise in both basic and translational research. Unfortunately, they often produce unwanted adverse effects, including genotoxicity, immune response, and reductions in cellular function.
Eye-gaze methods offer numerous advantages for studying cognitive processes in children with autism spectrum disorder (ASD), but data loss may threaten the validity and generalizability of results. Some eye-gaze systems may be more vulnerable to data loss than others, but to our knowledge, this issue has not been empirically investigated. In the current study, we asked whether automatic eye-tracking and manual gaze coding produce different rates of data loss or different results in a group of 51 toddlers with ASD.
Reconstructing three-dimensional (3D) scenes from two-dimensional (2D) retinal images is an ill-posed problem. Despite this, 3D perception of the world based on 2D retinal images is seemingly accurate and precise. The integration of distinct visual cues is essential for robust 3D perception in humans, but it is unclear whether this is true for non-human primates (NHPs).
Nε-lysine acetylation of nascent glycoproteins within the endoplasmic reticulum (ER) lumen regulates the efficiency of the secretory pathway. The ER acetylation machinery consists of the membrane transporter, acetyl-CoA transporter 1 (AT-1/SLC33A1), and two acetyltransferases, ATase1/NAT8B and ATase2/NAT8. Dysfunctional ER acetylation is associated with severe neurological diseases with duplication of AT-1/SLC33A1 being associated with autism spectrum disorder, intellectual disability, and dysmorphism.
When auditory feedback is perturbed in a consistent way, speakers learn to adjust their speech to compensate, a process known as sensorimotor adaptation. Typically, feedback perturbation experiments employ a transformation that targets a single vowel, or that affects all vowels in the same way, resulting in a uniform change across the vowel space.
Schwa is cross-linguistically described as having a variable target. The present study examines whether speakers are sensitive to whether their auditory feedback matches their target when producing schwa.
The FMR1 gene on the X chromosome has varying numbers of CGG repeats. The modal number is 30, and expansion to > 200 results in fragile X syndrome, but the copy number extends down to 6. Past research suggests that individuals whose CGGs are in the “low zone” (LZ; defined here as ≤ 25 CGGs) may be more environmentally-reactive than those with normal-range repeats (26-40 CGGs) – a gene x environment interaction
Cochlear implants are provided to people with significant hearing loss, in order to promote communication using oral language. Two (bilateral) implants are provided to promote sound localization and speech understanding in noise.
