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Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic ReviewA growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype.
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Two-year post-treatment outcomes following peanut oral immunotherapy in the Probiotic and Peanut Oral Immunotherapy-003 Long-Term (PPOIT-003LT) studyFew studies have examined long-term outcomes following oral immunotherapy; none have examined long-term risks and benefits associated with distinct clinical outcomes (desensitization, remission).
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Invasive fungal disease and antifungal prophylaxis in children with acute leukaemia: a multicentre retrospective Australian cohort studyInvasive fungal disease is a common and important complication in children with acute myeloid leukaemia (AML). We describe the epidemiology of IFD in a large multicentre cohort of children with AML.
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“We've wanted to vaccinate against it and now we can”: views of respiratory syncytial virus disease and immunisation held by caregivers of Aboriginal children in Perth, Western AustraliaRespiratory syncytial virus (RSV) is a major cause of respiratory infection with a higher burden in Aboriginal and Torres Strait Islander infants and children. We conducted a pilot qualitative study identifying disease knowledge and willingness to immunise following the changing immunisation landscape for infant RSV in 2024.
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‘It depends entirely on the nature of those supports’: Community perceptions of the appropriateness of early support services for autistic childrenWe do not know much about what support services people think are okay for young autistic children. This study was a survey of 253 people. We asked autistic adults, parents, and professionals from Australia and New Zealand whether they thought it was okay to provide support services to autistic children.
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Psychiatry and PharmacologyDissociation can exist along a continuum from normal developmental experiences to severe and contributing to persistent mental illness and impeding normal development. It can also occur as a discreet symptom in a range of disorders or as a disorder itself, and can change depending on a number of factors such as the age and stage of development.
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Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal diseaseAcute lower respiratory tract infection (ALRI) remains a major worldwide cause of childhood mortality, compelling innovation in prevention and treatment. Children in Papua New Guinea (PNG) experience profound morbidity from ALRI caused by Streptococcus pneumoniae. As a result of evolutionary divergence, the human PNG population exhibits profound genetic variation and diversity. To address unmet health needs of children in PNG, we tested whether genetic variants increased ALRI morbidity.
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Clinical Characteristics and Outcomes of Central Nervous System Tumors Harboring NTRK Gene FusionsTropomyosin receptor kinase (TRK) fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients.
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KMT2A-rearranged acute lymphoblastic leukaemiaKMT2A-rearranged acute lymphoblastic leukaemia (ALL) represents a high risk subtype of childhood ALL. Historical treatment strategies have comprised of intensification with conventional chemotherapy. However, outcomes have remained consistently poor compared to the advances that have been seen for other ALL subtypes, particularly for infants diagnosed before their first birthday
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Patient-related factors impact the implementation of inpatient antibiotic allergy delabelingThe clinical consequences of an antibiotic allergy label are detrimental, impacting health care delivery and patient outcomes. We assessed hospital inpatients with intent to offer free antibiotic allergy labeling assessment within a randomized controlled trial. We sought to determine the feasibility of establishing an adult antibiotic allergy delabeling service in a Western Australian tertiary public hospital.