Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.

Trauma and Autism Spectrum Disorder: Review, Proposed Treatment Adaptations and Future Directions.

Empirical investigations of trauma and post-traumatic stress disorder (PTSD) in individuals with autism spectrum disorder (ASD) are lacking despite indications of increased risk for exposure to potentially traumatic events in this population. Research on the treatment of traumatic stress psychopathology in ASD is even more limited and suggests a critical need for guidance in the area of ASD-specific treatment adaptations. The current paper provides preliminary recommendations for adapting current evidenced-based, trauma-specific interventions, specifically trauma-focused cognitive behavioral therapy (TF-CBT), for individuals with ASD based on well-established and evidence-based practices for working with this population.

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.

While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. We considered ∼8,825 sequenced parent-child trios (n ∼26,475 individuals) and identify 54 genes with a DNM enrichment in males (n = 18), females (n = 17), or overlapping in both the male and female subsets (n = 19). A replication cohort of 18,778 sequenced parent-child trios (n = 56,334 individuals) confirms 25 genes (n = 3 in males, n = 7 in females, n = 15 in both male and female subsets).

Epidermal Growth Factor Receptor Inhibitor Skin Rash Prophylaxis in a Community Oncology Setting.

Epidermal growth factor receptor inhibitors (EGFRIs) can potentially cause a debilitating rash despite use of reactive-based treatment. Prophylactic rash management is a controversial rash-mitigating approach. The impact of a prophylactic rash treatment protocol for EGFRIs at a community hospital was evaluated.

Evaluation of actigraphy-measured sleep patterns among children with disabilities and associations with caregivers' educational attainment: results from a cross-sectional study.

Objectives: To use wrist-actrigrphy to collect objective measures of sleep and to characterise actigraphy-measured sleep patterns among children with disabilities. We also assessed the extent to which, if at all, caregivers' education is associated with children's sleep disturbances.

Design: Cross-sectional study.

Caregivers' hair cortisol: a possible biomarker of chronic stress is associated with obesity measures among children with disabilities.

Background: The stress of caring for a loved one with chronic illness has been associated with childhood obesity. Hair cortisol has been proposed as a novel biomarker of chronic psychological stress. This study aimed to evaluate the associations between caregivers' chronic stress evaluated by hair cortisol concentrations (HCC) and obesity measures among children with disabilities such as autism.

Attitudes, beliefs, and perceptions of caregivers and rehabilitation providers about disabled children's sleep health: a qualitative study.

Background: Children with disabilities are more likely to have sleep disturbances than children without disabilities. Identifying attitudes, beliefs, knowledge, and perceptions of caregivers and health professionals is essential in developing effective intervention programs to improve disabled children's sleep health. However, no such qualitative data about adults who have key roles in the life and daytime activities of children with disabilities are available.

Smoking and perceived stress in relation to short salivary telomere length among caregivers of children with disabilities.

Telomere length (TL), the length of repeated DNA sequence that forms protective caps at the end of chromosomes, has emerged as a novel biomarker of cell aging and oxidative stress. There is increasing research exploring the associations of smoking and perceived stress with TL, and the results are inconsistent. This study aimed to examine whether smoking and perceived stress were associated with shortened salivary TL among primary caregivers of children with disabilities.

Trypanocidal drugs for chronic asymptomatic Trypanosoma cruzi infection.

Background: Prevention of chronic chagasic cardiomyopathy (CCC) by treating infected populations with trypanocidal therapy (TT) remains a challenge. Despite a renewed enthusiasm for TT, uncertainty regarding its efficacy, concerns about its safety and limited availability remain barriers for a wider use of conventional drugs. We have updated a previous version of this review.

Daytime sleepiness, poor sleep quality, eveningness chronotype, and common mental disorders among Chilean college students.

Objectives: To evaluate whether daytime sleepiness, poor sleep quality, and morningness and eveningness preferences are associated with common mental disorders (CMDs) among college students.

Methods: A total of 963 college students completed self-administered questionnaires that collected information about sociodemographic characteristics, sleep quality characteristics, CMDs, and other lifestyle behaviors.

Results: The prevalence of CMDs was 24.