Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Title: Auditory-Perceptual Features of Speech in Children and Adults with Down syndrome: A Speech Profile Analysis Legend: Table 6 – Principal component loading matrix, first four principal components, vowel features. Note. The largest loadings (in absolute magnitude) on each component define importance. Component loadings greater than .4 in absolute magnitude are shown in bold. Table …
Title: Associations among daily living skills, motor, and sensory difficulties in children with and without autism Legend: The goal of this study was to determine how motor skills relate to daily living skills in children 6-10 years of age. We assessed this in a group of children diagnosed with autism spectrum disorder (ASD), a group without …
Title: CRISPR-Cas9 deletion of PMP22 super enhancer creates a new model of hereditary neuropathy with liability to pressure palsies (HNPP) Legend: (A) Morphometric analysis demonstrates axonal loss i thin section were taken from 3- to 5-month-old wild-type, Pmp22-SE+/− and Pmp22-SE−/− nerve. Citation: Harrison Pantera, Bo Hu, Daniel Moiseev, Chris Dunham, Jibraan Rashid, John J. Moran, Kathleen Krentz, …
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 ASD (n = 26) and FXS+ASD (n = 29), and relationships with maternal maze use.
Human nervous system development is an intricate and protracted process that requires precise spatiotemporal transcriptional regulation. We generated tissue-level and single-cell transcriptomic data from up to 16 brain regions covering prenatal and postnatal rhesus macaque development.
How do learners gather new information during word learning? One possibility is that learners selectively sample items that help them reduce uncertainty about new word meanings.
Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains under-diagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown.
The move from reading to writing the human genome offers new opportunities to improve human health. The United States National Institutes of Health (NIH) Somatic Cell Genome Editing (SCGE) Consortium aims to accelerate the development of safer and more effective methods to edit the genomes of disease-relevant somatic cells in patients, even in tissues that are difficult to reach.
Cerebral palsy is caused by a congenital brain lesion that occurs early in life with associated motor deficits which may result in lifelong disability. The brain has high neuroplastic potential early in life, stressing the importance for therapy. Non-invasive brain stimulation (NIBS) including transcranial direct current stimulation (tDCS) may enhance pediatric rehabilitation interventions through neuroplasticity.
Nε-lysine acetylation in the ER is an essential component of the quality control machinery. ER acetylation is ensured by a membrane transporter, AT-1/SLC33A1, which translocates cytosolic acetyl-CoA into the ER lumen, and two acetyltransferases, ATase1 and ATase2, which acetylate nascent polypeptides within the ER lumen. Dysfunctional AT-1, as caused by gene mutation or duplication events, results in severe disease phenotypes.
