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MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
The role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers.
The broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.
Early identification and intervention are recognised as important elements of the clinical pathway for autism spectrum disorder (ASD). Children with ASD and attention deficit hyperactivity disorder (ADHD) may be diagnosed at a different age than children who only have one of these diagnoses.
In this paper, we aim to contribute to the understanding of the multidimensional nature of school readiness. In a sample of over 4,000 Australian children in their first year of school, we used latent class analysis to examine patterns of school readiness based on child, family, school and community characteristics, and examine the relationship between these patterns of school readiness and subsequent outcomes (reading comprehension, school absence and emotional and behavioural difficulties).
Dog walking is important for public health and dog welfare, yet some owners do not walk with their dogs regularly. This study examined factors associated with participation in regular dog walking and intention to dog walk, in order to inform physical activity interventions.
Real-time continuous glucose monitoring allows patients with diabetes to adjust insulin dosing, potentially improving glucose control. This study aimed to compare the long-term cost-effectiveness of the Dexcom G6 rt-CGM device versus self-monitoring of blood glucose and flash glucose monitoring in Australia in people with type 1 diabetes.
Results from recent clinical studies suggest potential efficacy of immune training (IT)-based approaches for protection against severe lower respiratory tract infections in infants, but underlying mechanisms are unclear.
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Clinical studies supported by immunological data indicate early life intervention strategies to be promising in reducing the growing global burden of food allergies. The events that predispose to food allergy, including the induction of allergen-specific immune responses, appear to be initiated early in development.