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CDKL5 deficiency disorder: clinical features, diagnosis, and management

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.

PrEggNut Study: protocol for a randomised controlled trial investigating the effect of a maternal diet rich in eggs and peanuts from <23 weeks' gestation during pregnancy to 4 months' lactation on infant IgE-mediated egg and peanut allergy outcomes

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.

Corporate Philanthropy

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The early Human Capability Index (eHCI)

The Early Human Capability Index is a holistic measure intended to capture early child development across diverse cultures and contexts.

Evidence that infant and early childhood developmental impairments are associated with hallucinatory experiences: Results from a large, population-based cohort study

Cognitive and motor dysfunction are hallmark features of the psychosis continuum, and have been detected during late childhood and adolescence in youth who report psychotic experiences (PE). However, previous investigations have not explored infancy and early childhood development.

Vitamin D content of wild-caught traditional foods collected on Nyoongar Country in Western Australia

Low vitamin D status and intake are prevalent among the Australian population, including Aboriginal and Torres Strait Islander peoples. We hypothesised that some traditional foods could contain vitamin D, and measured vitamin D in foods from Nyoongar Country, Western Australia. Samples of kangaroo, emu, squid/calamari and lobster/crayfish were collected and prepared by Aboriginal people using traditional and contemporary methods.

Improved Glycemic Outcomes With Diabetes Technology Use Independent of Socioeconomic Status in Youth With Type 1 Diabetes

Technology use in type 1 diabetes (T1D) is impacted by socioeconomic status (SES). This analysis explored relationships between SES, glycemic outcomes, and technology use.

Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic Review

Behavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.

Respiratory syncytial virus in children: epidemiology and clinical impact post-COVID-19

Respiratory syncytial virus (RSV) remains a leading cause of mortality and morbidity worldwide. RSV seasonality was disrupted by COVID-19-associated nonpharmaceutical interventions (NPIs). We review RSV seasonality, molecular epidemiology, clinical manifestations, and community awareness to inform future prevention strategies. 

Excess Mortality Among People With Rheumatic Heart Disease in Australia

Jonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@