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        WA Epithelial Research Program for Childhood Respiratory Diseases

        Anthony Stephen Kicic Stick A SM BSc (Hons) PhD MB BChir PhD MRCP FRACP Rothwell Family Fellow; Head, Airway Epithelial Research Head, P4 Respiratory Health for Kids Anthony.Kicic@telethonkids.org.au Rothwell Family Fellow; Head, Airway Epithelial ...

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        Standardization of Epidemiological Surveillance of Acute Poststreptococcal Glomerulonephritis

        Acute poststreptococcal glomerulonephritis (APSGN) is an immune complex-induced glomerulonephritis that develops as a sequela of streptococcal infections. This article provides guidelines for the surveillance of APSGN due to group A Streptococcus (Strep A). The primary objectives of APSGN surveillance are to monitor trends in age- and sex-specific incidence, describe the demographic and clinical characteristics of patients with APSGN, document accompanying risk factors, then monitor trends in frequency of complications, illness duration, hospitalization rates, and mortality. ...

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        Pediatric Staphylococcus aureus Bacteremia: Clinical Spectrum and Predictors of Poor Outcome

        Staphylococcus aureus is a common cause of bacteremia, yet the epidemiology and predictors of poor outcome remain inadequately defined in childhood. ISAIAH (Invasive Staphylococcus aureus Infections and Hospitalizations in children) is a prospective, cross-sectional study of S. aureus bacteremia in children hospitalized in Australia and New Zealand over 24 months. ...

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        The ORIGINS Project

        ORIGINS is a new birth cohort study, collecting detailed information about the early environment's influence on a broad range of non-communicable diseases ...

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        A process and impact evaluation of use of a Powered Wheelchair Standing Device by boys with Duchenne muscular dystrophy

        Graham Jenny Peter Hall Downs Jacoby GL JA PJ BAppSci PhD CRFS FANZSRS FThorSoc FERS BApplSci (physio) MSc PhD BA (Hons) MSc Honorary Research Associate Program Head, Development and Disability Biostatistician 08 6319 1763 Jenny.Downs@ ...

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        International Rett syndrome study: InterRett

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

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        Language in Little Ones (LiLO)

        Mary Mailing list MEDIA ENQUIRIES Discover. Prevent. Cure. Brushe Be Inspired Media Contacts About Telethon Kids Institute MB Join thousands of active subscribers and hear about the brave kids, dedicated researchers, and world-leading science at ...

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        Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

        Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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        Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

        High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

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        Fetal Alcohol Spectrum Disorder (FASD): Knowledge, attitudes, experiences and practices of the Western Australian youth custodial workforce

        This study aims to establish the current knowledge, attitudes, experiences and practices regarding FASD and other neurodevelopmental impairments among youth custodial officers ...

        Research

        Respiratory morbidity in Rett syndrome: An observational study

        Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

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