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Research
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 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.
Research
Invasive group A Streptococcus disease in Australian children: 2016 to 2018 - a descriptive cohort studyOur aims were to describe the epidemiological distribution of paediatric invasive group A Streptococcus disease in Australia and correlate this with influenza notifications
News & Events
T1D and COVID-19: what have we seen so far and what do we expect?We know many families have questions about the risk of COVID-19 to children with type 1 diabetes. To address these questions, Perth Children’s Hospital’s Diabetes Clinic has provided information and resources to help you navigate this tricky period.
Embrace the potential of children with Rett Syndrome by exploring how to plan opportunities for uptime, maximizing their engagement and participation in meaningful activities.
Research
Long-term survival for infants born with orofacial clefts in Western AustraliaParents with a child diagnosed with an OFC ± additional minor anomalies only can be reassured that the OFC does not influence survival rates in infancy
Research
Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: a pooled analysis from the childhood Leukemia International ConsortiumOur findings suggest that high coffee intake during pregnancy may increase risk of childhood acute lymphoblastic leukemia
Research
Identification and genetic determination of an early life risk disposition for depressive disorder:Progress in psychiatric genetics has been slow despite evidence of high heritability for most mental disorders
The aim of RESP-ACT is to reduce these children’s respiratory hospital admissions and visits to Emergency Department, and to help them and their families to have as the best possible quality of life.
Research
Blinatumomab Added to Chemotherapy in Infant Lymphoblastic LeukemiaKMT2A-rearranged acute lymphoblastic leukemia (ALL) in infants is an aggressive disease with 3-year event-free survival below 40%. Most relapses occur during treatment, with two thirds occurring within 1 year and 90% within 2 years after diagnosis. Outcomes have not improved in recent decades despite intensification of chemotherapy.
Research
Interferon β-1a ring prophylaxis to reduce household transmission of SARS-CoV-2: a cluster randomised clinical trialAccumulating evidence indicates that an early, robust type 1 interferon (IFN) response to SARS-CoV-2 is important in determining COVID-19 outcomes, with an inadequate IFN response associated with disease severity. Our objective was to examine the prophylactic potential of IFN administration to limit viral transmission.