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Physical activity behaviors in trans and gender diverse adults: a scoping review

There is currently limited data regarding the physical activity behaviors of trans and gender diverse people (including binary and non-binary identities; henceforth trans). The aim of this review was to synthesize the existing literature in this area, with a focus on physical activity behaviors as they relate to health (e.g. health benefits, risks of adverse health outcomes). 

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.

Changing rules, recommendations, and risks: COVID-19 vaccination decisions and emotions during pregnancy

As COVID-19 vaccinations rolled out globally from late 2020, rules and recommendations regarding vaccine use in pregnancy shifted rapidly. Pre-registration COVID-19 vaccine trials excluded those who were pregnant. Initial Australian medical advice did not routinely recommend COVID-19 vaccines in pregnancy, due to limited safety data and little perceived risk of local transmission.

Streptococcus pyogenes pharyngitis elicits diverse antibody responses to key vaccine antigens influenced by the imprint of past infections

Knowledge gaps regarding human immunity to Streptococcus pyogenes have impeded vaccine development. To address these gaps and evaluate vaccine candidates, we established a human challenge model of S. pyogenes pharyngitis. Here, we analyse antibody responses in serum and saliva against 19 antigens to identify characteristics distinguishing 19 participants who developed pharyngitis and 6 who did not.

Association between disability status and dental attendance patterns in Australian children: A national survey

This study investigated the dental attendance patterns of Australian children with and without disabilities using data from Growing up in Australia: The Longitudinal Study of Australian Children.

The parent empowerment scale: development and psychometric properties

Parents of trans and gender diverse (herein ‘trans’) children experience additional challenges in their parenting role relative to parents of cisgender children. Understanding and enhancing parents’ empowerment is a promising approach to support both parents and children. We aimed to develop an empowerment scale specific to parents of trans children, grounded in parents’ lived experiences. 

Implications of providing wrist-hand orthoses for children with cerebral palsy: evidence from a randomised controlled trial

To investigate the effects of providing rigid wrist-hand orthoses plus usual multidisciplinary care, on reducing hand impairments in children with cerebral palsy.

Maternal Allergic Disease Phenotype and Infant Birth Season Influence the Human Milk Microbiome

Early infancy is a critical period for immune development. In addition to being the primary food source during early infancy, human milk also provides multiple bioactive components that shape the infant gut microbiome and immune system and provides a constant source of exposure to maternal microbiota. Given the potential interplay between allergic diseases and the human microbiome, this study aimed to characterise the milk microbiome of allergic mothers.

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.

Impact of Parent-Reported Antibiotic Allergies on Pediatric Antimicrobial Stewardship Programs

Antimicrobial stewardship (AMS) is crucial for optimizing antimicrobial use and restraining emergence of antimicrobial resistance. The overall increase in reported antibiotic allergies in children can pose a significant barrier to AMS, but its impact on clinical AMS care in children has not been addressed.

"Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilities

This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.

Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population study

Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.

A qualitative exploration of motivations and barriers for community leisure organisations’ engagement with the Jooay™ mobile app

Participation in leisure activities is key to the physical and mental health of children and adolescents with disabilities. The Jooay™ mobile app aims to link children and adolescents with disability to participation opportunities in their community.

Developmental Mismatch Across Brain Modalities in Young Children

Brain development during the preschool period is complex and extensive and underlies ongoing behavioral and cognitive maturation. Increasing understanding of typical brain maturation during this time is critical to early identification of atypical development and could inform treatments and interventions.

Common data elements to standardize genomics studies in cerebral palsy

To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs.

Protocol to implement and evaluate a culturally secure, strength-based, equine-assisted learning program, "Yawardani Jan-ga" (horses helping)

Australian Aboriginal people experience stressors from inequalities across crucial social determinants, including deep and entrenched disadvantage and exclusion. The impact of unaddressed historical issues is pervasive and intergenerational. The disproportionate rates of Aboriginal youth suicide, juvenile detention and imprisonment highlight the inadequacy of existing social and emotional wellbeing programs and services for Aboriginal children and young people.

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Skin health of urban-living Aboriginal children attending a primary care Aboriginal Community Controlled Health Organisation clinic

Despite increasing urbanisation, little is known about skin health for urban-living Aboriginal children and young people (CYP, aged <18 years). This study aimed to investigate the primary care burden and clinical characteristics of skin conditions in this cohort. 

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

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.