Journal of Paediatrics and Child Health

AIM: Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non-genetics health-care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network - Westmead (SCHN-W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare-specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests...

AIM: Australian neonatal mortality data are collected and shared within collaborative networks. Individual unit outcomes are benchmarked between units and presented in quarterly or yearly reports. Low mortality is commonly interpreted as optimal performance. However, current collected data do not differentiate between death due to severe illness and death following treatment limitation. This study aims to explore the physiological condition immediately before death, and the proportion of deaths attributed to treatment limitation...

AIM: To exploit a relatively homogeneous national health care context and a national diabetes database to address the questions: Is there an optimal clinic/centre size in determining outcomes?; and Can improvement in median centre outcomes be driven by reducing variability in outcome? METHODS: Using the Australasian Diabetes Database Network, data from seven tertiary hospital paediatric diabetes clinics for patients with type one diabetes from Australia were recorded from 6-month uploads: September 2017, March 2018, September 2018 and March 2019...

AIM: Bronchiolitis is the commonest reason for hospitalisation amongst infants and is often a target for low-value care (LVC) reduction. We aimed to assess the impact of a multifaceted intervention (clinician education, parent engagement, audit-feedback) on rates of chest x-rays (CXR) in bronchiolitis. METHODS: Longitudinal study of CXRs ordered in infants (1-12 months) diagnosed with bronchiolitis in the Emergency Department (ED) of an Australian paediatric hospital between May 2016 and February 2023...

AIM: This study addresses the absence of a definition of care for children with feeding disorders, limited agreement on key performance indicators (KPIs), and the lack of data linked to those KPIs. METHODS: Clinicians, consumers and researchers involved in outpatient feeding care in New South Wales (NSW), Australia were invited to participate in a two-Phase study. In Phase 1, a modified Delphi method was used. Two rounds of voting resulted in a new consensus definition of a multidisciplinary paediatric feeding clinic...

AIM: The aims of this research were to determine the mortality from sepsis and severe infection in the paediatric and adolescent populations of Aotearoa/New Zealand, and to determine the distribution of mortality by sub-populations. METHODS: We used three different methods to identify deaths from sepsis and severe infection and compared the groups: All deaths primarily coded with any ICD-10-AM code relating to sepsis; The presence of A40, A41 and P36 in any cause of death field; Deaths due to pneumonia and meningitis...

AIM: Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not spermatogenesis. By contrast, human chorionic gonadotropin (hCG) and recombinant follicle stimulating hormone (rFSH) provides both virilization and spermatogenesis. Fertility outcomes of boys treated with recombinant therapy during adolescence have been infrequently described. We report fertility induction and pregnancy outcomes in CHH patients treated with recombinant gonadotropins during puberty...

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AIM: To analyse key pregnancy and birth outcomes for First Nations women and children at a Western Sydney metropolitan tertiary referral centre. METHODS: The birth and health-determining characteristics of 470 First Nations infants born at Nepean Hospital in 2018 and their mothers were included in a retrospective audit and compared with a contemporaneous control group of 470 infants and their mothers. RESULTS: Mothers of First Nations infants had significantly higher rates of socioeconomic disadvantage (P < 0...

Acute generalised muscle weakness in children is a paediatric emergency with a broad differential diagnosis. A careful history and neurologic examination guides timely investigation and management. We review some of the more common causes of acute generalised muscle weakness in children, highlighting key history and examination findings, along with an approach to lesion localisation to guide differential diagnosis and further investigation.

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