Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland.

Background: Myotonic Dystrophy type 1 (DM1) is an autosomal dominant disease with anticipation due to increased number of CTG repeats in the DMPK gene.

Methods: This retrospective, cohort study in Iceland assessed prevalence of DM1, molecular pathology, and patient ascertainment. Data was collected from all major hospitals in Iceland, Medical Director of Health, and independent clinics.

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries.

Parallel maturation of rodent hippocampal memory and CA1 task representations.

Hippocampal-dependent memory is known to emerge late in ontogeny, and its full development is protracted. Yet the changes in hippocampal neuronal function that underlie this delayed and gradual maturation remain relatively unexplored. To address this gap, we recorded ensembles of CA1 neurons while charting the development of hippocampal-dependent spatial working memory (WM) in rat pups (∼2-4 weeks of age).

The role of childhood adversity and prenatal mental health as psychosocial risk factors for adverse delivery and neonatal outcomes.

Objective: Exposure to adverse childhood experiences (ACEs) is a significant predictor for physical and mental health problems later in life, especially during the perinatal period. Prenatal common mental disorders (PCMDs) are well-established as a risk for obstetric interventions but knowledge on combined effects of multiple psychosocial risk factors is sparse. We aim to examine a comprehensive model of ACEs and PCMDs as risk factors for poor delivery and neonatal outcomes.