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Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Maternal and neonatal outcomes after infection with monkeypox virus clade I during pregnancy in DR Congo: a pooled, prospective cohort study

Monkeypox virus (MPXV) has been linked to vertical transmission, but systematic data are scarce. We aimed to describe the sociodemographic, clinical, and virological characteristics and assess the frequency and determinants of adverse outcomes in pregnant women with MPXV clade I infection. 

Culturally competent care for LGBTIQA+ people experiencing intimate partner violence: A reflexive thematic analysis of healthcare provider perspectives and support needs

Lesbian, Gay, Bisexual, Transgender, Intersex, Queer, Asexual/Aromantic (LGBTIQA+) people and other individuals with diverse sexual orientation, sex and/or gender identity experience intimate partner violence (IPV) at higher rates than non-LGBTIQA+ people but often receive inconsistent culturally competent healthcare, which deters help-seeking.

Projected impacts of climate change on malaria in Africa

The implications of climate change for malaria eradication this century remain poorly resolved. Many studies focus on parasite and vector ecology in isolation, neglecting the interactions between climate, malaria control and the socioeconomic environment, including disruption from extreme weather. Here we integrate 25 years of African data on climate, malaria burden and control, socioeconomic factors, and extreme weather. 

Repetitive negative thinking during pregnancy - The role of biased information seeking and negative prenatal expectations

Repetitive Negative Thinking (RNT) during pregnancy is a key risk factor for psychopathology in the perinatal period. However, the cognitive mechanisms underlying prenatal RNT remain poorly understood. Recent research has suggested that a tendency to volitionally seek negative rather than positive information (i.e., biased information seeking) may contribute to the formation of more negative prenatal expectations, which in turn predict elevated prenatal RNT.

Protocol for a feasibility and acceptability trial of Bloom, a co-produced and co-facilitated parent group to enhance the quality of life and well-being of young autistic children

The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

Circulating thyroid hormones and metabolites in children with autism spectrum disorder

Thyroid hormones affect neurological development and function, but detailed studies of thyroid hormones and metabolites in autism are lacking. The objective was t characterize thyroid function and metabolism in autistic children.

Transforming families: evaluation of a digital resource to enhance parental support for trans children

Parental support is a critical protective factor for trans and gender diverse children, yet many parents lack access to trustworthy, evidence-based information. The Transforming Families project aimed to address this gap by co-designing a digital resource to enhance parental understanding, support, and acceptance.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.