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Variation in stillbirth rates across high-income countries and large equity gaps within high-income countries persist. If all high-income countries achieved stillbirth rates equal to the best performing countries, 19 439 late gestation (28 weeks or more) stillbirths could have been avoided in 2015. The proportion of unexplained stillbirths is high and can be addressed through improvements in data collection, investigation, and classification, and with a better understanding of causal pathways. Substandard care contributes to 20–30% of all stillbirths and the contribution is even higher for late gestation intrapartum stillbirths. National perinatal mortality audit programmes need to be implemented in all high-income countries. The need to reduce stigma and fatalism related to stillbirth and to improve bereavement care are also clear, persisting priorities for action. In high-income countries, a woman living under adverse socioeconomic circumstances has twice the risk of having a stillborn child when compared to her more advantaged counterparts. Programmes at community and country level need to improve health in disadvantaged families to address these inequities.

Differences in audiovisual integration are commonly observed in autism. Temporal binding windows (TBWs) of audiovisual speech can be trained (i.e., narrowed) in non-autistic adults; this study evaluated a computer-based perceptual training in autistic youth and assessed whether treatment outcomes varied according to individual characteristics. Thirty autistic youth aged 8–21 were randomly assigned to a brief perceptual training (n = 15) or a control condition (n = 15). At post-test, the perceptual training group did not differ, on average, on TBWs for trained and untrained stimuli and perception of the McGurk illusion compared to the control group. The training benefited youth with higher language and nonverbal IQ scores; the training caused widened TBWs in youth with co-occurring cognitive and language impairments.

Autism is a neurodevelopmental condition defined by differences in social communication and by the presence of restricted and repetitive patterns of behavior, interests, and activities (RRBs). Individuals with autism also commonly present with atypical patterns of sensory responsiveness (i.e., hyporesponsiveness, hyperresponsiveness, and sensory seeking), which are theorized to produce cascading effects across other domains of development. The purpose of this study was to examine differences in sensory responsiveness in children with and without autism (ages 8–18 years), as well as relations between patterns of sensory responsiveness and core and related features of autism. Participants were 50 children with autism and 50 non-autistic peers matched on age and sex. A comprehensive clinical battery included multiple measures of sensory responsiveness, core features of autism, adaptive behavior, internalizing behaviors, cognitive ability, and language ability. Groups significantly differed on all three patterns of sensory responsiveness. Some indices of core and related autism features were robustly associated with all three patterns of sensory responsiveness (e.g., RRBs), while others were more strongly associated with discrete patterns of sensory responsiveness (i.e., internalizing problem behaviors and hyperresponsiveness, language and sensory seeking). This study extends prior work to show that differences in sensory responsiveness that are linked with core and related features of autism persist in older children and adolescents on the spectrum.

Background Ataxia telangiectasia (A–T) is a rare genetic and progressive condition, primarily affecting the neurological, immunological, and pulmonary systems. In the absence of a cure, people living with A–T require co-ordinated multidisciplinary care to manage their complex needs. This often leads to families working with a range of different professionals and feeling burdened by the amount of information and coordination of care that they manage. With the aim to inform the co-production of a family-owned healthcare pack to promote person-centered care and self-management, this study explored the views of children with A–T and parents of children and young people with A–T about the utility, acceptability, design, and content of this pack. Results A total of two children and eight parents participated in one pilot interview and three focus groups. Using the Framework Method of analysis, three themes were generated offering an insight to the range of participants’ views. The first theme, ‘ accessing, managing, organising, and sharing information with others ’, broadly highlighted the need for a pack as a valuable resource in the absence of coordinated care and a centralised system of record keeping and information sharing. The second theme, ‘ pack content ’, suggested that the pack may serve the dual purpose of storing and retrieving information and helping to communicate and work with other professionals. The third theme, ‘ design features ’, investigated the design of the pack and the differences in the views of children who wanted the pack to look like a magazine style booklet, and the parents who preferred an electronic pack or an app. Conclusion This study is an important contribution to the current understanding of the experiences of care and management of A–T from the point of view of children with A–T and their parents. Families with a child with A–T struggle with communication and information sharing across and between different professionals. My A–T Pack is a step towards providing families a viable resource for effective record keeping, symptoms management, and information sharing with relevant professionals involved in the care and management of their child's condition.

Intraocular pressure (IOP) is maintained as a result of the balance between production of aqueous humour (AH) by the ciliary processes and hydrodynamic resistance to its outflow through the conventional outflow pathway comprising the trabecular meshwork (TM) and Schlemm's canal (SC). Elevated IOP, which can be caused by increased resistance to AH outflow, is a major risk factor for open-angle glaucoma. Matrix metalloproteinases (MMPs) contribute to conventional aqueous outflow homeostasis in their capacity to remodel extracellular matrices, which has a direct impact on aqueous outflow resistance and IOP. We observed decreased MMP-3 activity in human glaucomatous AH compared to age-matched normotensive control AH. Treatment with glaucomatous AH resulted in significantly increased transendothelial resistance of SC endothelial and TM cell monolayers and reduced monolayer permeability when compared to control AH, or supplemented treatment with exogenous MMP-3.

Purpose Vital dyes allow the visualization of cells in vivo without causing tissue damage, making them a useful tool for studying lateral line and inner ear hair cells in living zebrafish and other vertebrates. FM1-43, YO-PRO-1, and DASPEI are three vital dyes commonly used for hair cell visualization. While it has been established that FM1-43 enters hair cells of zebrafish and other organisms through the mechanoelectrical transduction (MET) channel, the mechanism of entry into hair cells for YO-PRO-1 and DASPEI has not been established despite widespread use. We hypothesize that YO-PRO-1 and DASPEI entry into zebrafish hair cells is MET channel uptake dependent similar to FM1-43. Methods To test this hypothesis, we used both genetic and pharmacologic means to block MET channel function. Genetic based MET channel assays were conducted with two different mechanotransduction defective zebrafish lines, specifically the myo7aa −/− loss of function mutant tc320b (p.Y846X) and cdh23 −/− loss of function mutant (c.570-571del). Pharmacologic assays were performed with Gadolinium(III) Chloride (Gad(III)), a compound that can temporarily block mechanotransduction activity. Results Five-day post fertilization (5dpf) myo7aa −/− and cdh23 −/− larvae incubated with FM1-43, YO-PRO-1, and DASPEI all showed nearly absent uptake of each vital dye. Treatment of wildtype zebrafish larvae with Gad(III) significantly reduces uptake of FM1-43, YO-PRO-1, and DASPEI vital dyes. Conclusion These results indicate that YO-PRO-1 and DASPEI entry into zebrafish hair cells is MET channel dependent similar to FM1-43. This knowledge expands the repertoire of vital dyes that can be used to assess mechanotransduction and MET channel function in zebrafish and other vertebrate models of hair cell function.

Pre-eclampsia is associated with postnatal cardiac dysfunction; however, the nature of this relationship remains uncertain. This multicentre retrospective cohort study aimed to determine the prevalence of pre-eclampsia in women with pre-existing cardiac dysfunction (left ventricular ejection fraction < 55%) and explore the relationship between pregnancy outcome and pre-pregnancy cardiac phenotype. In this cohort of 282 pregnancies, pre-eclampsia prevalence was not significantly increased (4.6% [95% C.I 2.2–7.0%] vs. population prevalence of 4.6% [95% C.I. 2.7–8.2], p  = 0.99); 12/13 women had concurrent obstetric/medical risk factors for pre-eclampsia. The prevalence of preterm pre-eclampsia (< 37 weeks) and fetal growth restriction (FGR) was increased (1.8% vs. 0.7%, p  = 0.03; 15.2% vs. 5.5%, p  < 0.001, respectively). Neither systolic nor diastolic function correlated with pregnancy outcome. Antenatal ß blockers (n = 116) were associated with lower birthweight Z score (adjusted difference − 0.31 [95% C.I. − 0.61 to − 0.01], p  = 0.04). To conclude, this study demonstrated a modest increase in preterm pre-eclampsia and significant increase in FGR in women with pre-existing cardiac dysfunction. Our results do not necessarily support a causal relationship between cardiac dysfunction and pre-eclampsia, especially given the population’s background risk status. The mechanism underpinning the relationship between cardiac dysfunction and FGR merits further research but could be influenced by concomitant ß blocker use.