Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.

CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.

Proteomic profiling of the large-vessel vasculitis spectrum identifies shared signatures of innate immune activation and stromal remodelling.

Background: Takayasu arteritis (TAK) and giant cell arteritis (GCA), the most common forms of large-vessel vasculitis (LVV), can result in serious morbidity. Understanding the molecular basis of LVV should aid in developing better biomarkers and treatments.

Methods: Plasma proteomic profiling of 184 proteins was performed in two cohorts.

Genetic proxies for clinical traits are associated with increased risk of severe COVID-19.

Routine use of genetic data in healthcare is much-discussed, yet little is known about its performance in epidemiological models including traditional risk factors. Using severe COVID-19 as an exemplar, we explore the integration of polygenic risk scores (PRS) into disease models alongside sociodemographic and clinical variables. PRS were optimized for 23 clinical variables and related traits previously-associated with severe COVID-19 in up to 450,449 UK Biobank participants, and tested in 9,560 individuals diagnosed in the pre-vaccination era.

Protocol for a multisite randomised controlled trial assessing the effect of the Telehealth for Early Developmental Intervention in babies born very preterm (TEDI-Prem) programme on neurodevelopmental outcomes and parent well-being.

Introduction: Infants born very preterm (VPT, <32 weeks' gestation) are at increased risk for neurodevelopmental impairments including motor, cognitive and behavioural delay. Parents of infants born VPT also have poorer mental health outcomes compared with parents of infants born at term.We have developed an intervention programme called TEDI-Prem (Telehealth for Early Developmental Intervention in babies born very preterm) based on previous research.

Grade Inflation in Generative Models.

Generative models hold great potential, but only if one can trust the evaluation of the data they generate. We show that many commonly used quality scores for comparing two-dimensional distributions of synthetic vs. ground-truth data give better results than they should, a phenomenon we call the "grade inflation problem.