Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Aim: To examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1-related disorder), a mixed group of other neurodevelopmental genetic syndromes (NDGS), idiopathic neurodevelopmental disorder, and neurotypical control participants.

Method: Using a longitudinal case-control design, caregivers reported neurobehavioral information for 498 participants (PTEN hamartoma tumor syndrome n = 112, Malan syndrome n = 24, SYNGAP1-related disorder n = 47, other NDGS n = 72, idiopathic neurodevelopmental disorder n = 54, neurotypical siblings n = 74, and unrelated neurotypical control participants n = 115) at three timepoints (baseline, and 1-month and 4-month follow-ups) using the online-administered Neurobehavioral Evaluation Tool (NET).

Results: NET scales had good scale and test-retest reliability.

Alterations of Excitation-Inhibition Balance and Brain Network Dynamics Support Sensory Deprivation Theory in Presbycusis.

Sensory deprivation theory is an important hypothesis involving potential pathways between hearing loss and cognitive impairment in patients with presbycusis. The theory suggests that prolonged auditory deprivation in presbycusis, including neural deafferentation, cortical reallocation, and atrophy, causes long-lasting changes and reorganization in brain structure and function. However, neurophysiological changes underlying the cognition-ear link have not been explored.

State and Local Government Expenditures and Infant Mortality.

Objectives: A previous study reported that increased state and local government expenditures were associated with decreased infant mortality rates (IMRs). However, reported estimates of the association between expenditures and IMR represented the degree to which the association changed each year, not the main effect. We reproduced the original results, reporting this main effect and replicated the analysis using improved methodology and updated data.

Dynamic glucose-enhanced MRI of gliomas: A preliminary clinical application.

The study aimed to investigate the feasibility of dynamic glucose-enhanced (DGE) MRI technology in the clinical application of glioma. Twenty patients with glioma were examined using a preoperative DGE-MRI protocol before clinical intervention. A brief hyperglycemic state was achieved by injecting 50 mL of 50% w/w D-glucose intravenously during the DGE imaging.

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.

In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. In this Review, we outline the concept of N-of-1 individualized therapies, focusing on genetic therapies, and illustrate advances and challenges in the field using cases for which therapies have been successfully developed.

α-Synuclein Strain Dynamics Correlate with Cognitive Shifts in Parkinson's Disease.

α-Synuclein (α-syn) strains can serve as discriminators between Parkinson's disease (PD) from other α-synucleinopathies. The relationship between α-syn strain dynamics and clinical performance as patients transition from normal cognition (NC) to cognitive impairment (CI) is not known. Here, we show that the biophysical properties and neurotoxicity of α-syn strains change as PD cognitive status transitions from NC to mild cognitive impairment (PD-MCI) and dementia (PD-D).

Search for the Exclusive W Boson Hadronic Decays W^{±}→π^{±}γ, W^{±}→K^{±}γ and W^{±}→ρ^{±}γ with the ATLAS Detector.

A search for the exclusive hadronic decays W^{±}→π^{±}γ, W^{±}→K^{±}γ, and W^{±}→ρ^{±}γ is performed using up to 140  fb^{-1} of proton-proton collisions recorded with the ATLAS detector at a center-of-mass energy of sqrt[s]=13  TeV. If observed, these rare processes would provide a unique test bench for the quantum chromodynamics factorization formalism used to calculate cross sections at colliders. Additionally, at future colliders, these decays could offer a new way to measure the W boson mass through fully reconstructed decay products.

Black Caregiver Perspectives During a Developmental Diagnostic Interview.

Despite increasing autism prevalence rates across racial and ethnic groups, research has traditionally overlooked the influence of culture on developmental diagnostic conversations. Addressing this gap in research is crucial to understanding and mitigating potential disparities in diagnostic experiences, especially among Black caregivers. Black caregivers encounter frustration and discrimination during the diagnostic process, citing dismissiveness and a lack of cultural competence from healthcare providers.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Metabolite T relaxation times decrease across the adult lifespan in a large multi-site cohort.

Purpose: Relaxation correction is crucial for accurately estimating metabolite concentrations measured using in vivo MRS. However, the majority of MRS quantification routines assume that relaxation values remain constant across the lifespan, despite prior evidence of T changes with aging for multiple of the major metabolites. Here, we comprehensively investigate correlations between T and age in a large, multi-site cohort.

Addressing the Health Impacts of Racism on Children and Youth: Equity Until Equality.

Race is a sociopolitical construct based on physical characteristics, not a biological construct. Racism is a system that ascribes value and resources based on the sociopolitical construct called "race." In the United States and other countries around the world, racism is associated with disparate health outcomes and shortened life expectancies.

Using Functional Communication and Competing Stimuli to Gradually Increase the Distance of Transitions in the Treatment of Tangibly Maintained Elopement.

Unlabelled: Behavioral interventions are highly efficacious in reducing elopement. However, few studies explicitly examine elopement during transitions, and they typically do not discuss distance traveled during the transition. We report on a successful treatment consisting of functional communication to "go see" stimuli during transitions along with blocking and competing stimuli during reinforcer delays for a young boy whose elopement occurred during transitions and was maintained by positive reinforcement in the form of access to tangibles.

Utensil Fading to Increase Appropriate Utensil Acceptance.

Unlabelled: Escape extinction is an empirically supported treatment to increase food and drink acceptance in children with feeding difficulties. However, nonremoval of the spoon or cup may not be effective in isolation when children press their lips closed or clench their teeth. Physical guidance procedures may circumvent this concern, though this is not always the case and may require the bite or drink be deposited with an alternate utensil.