Anneke Grobler

Background: Oral mucositis is a clinically significant, potentially severe side effect of systemic chemotherapy in children with cancer. Understanding genetic predisposition to this side effect may assist in development of stratified prophylactic and treatment strategies. However, existing literature primarily focuses on children with haematological malignancies. Methods: We performed a candidate gene study of 101 children with solid tumours enrolled in the MARVEL-PIC study at the Royal Children’s Hospital, Melbourne. Clinical data were extracted from the electronic medical record, with NCI-CTCAE v6.0 grade ≥2 oral mucositis defined as the primary outcome. Genetic variants previously associated with oral mucositis were analysed under an additive genetic model to identify significant associations. Exploratory gene-drug interactions were identified based on chemotherapy exposure. Results: 29 patients (28.7%) developed grade ≥2 oral mucositis. MTHFR A1298C (rs1801131) was associated with lower odds of grade ≥2 oral mucositis, lower peak mucositis grade, and lower odds of opioid use for oral mucositis. 25 exploratory gene-drug interaction signals were identified, including miR-1206 rs2114358 with methotrexate exposure and ABCB1 rs1045642 with anthracycline exposure. Conclusions: MTHFR A1298C (rs1801131) demonstrated a protective effect against chemotherapy-induced oral mucositis in our cohort of children with solid tumours. Larger, ancestry-informed studies are required to validate our findings.

Household income is a social determinant of children’s health and development. In Australia, one in three families are unable to afford material basi

Objectives: To explore caregiver and clinicians perspectives on implementing mental health conversations and supports for caregivers of children with chronic conditions in paediatric outpatient clinics. Specifically, views were sought on (a) screening approaches and measures (phase 1) and (b) how feedback and support could be provided to caregivers experiencing mental health difficulties (phase 2). Methods: Caregivers and clinicians from two outpatient clinics (neuromuscular and diabetes) at a tertiary paediatric hospital in Melbourne, Australia participated in online focus groups in July and August 2024. Caregivers were recruited from outpatient clinics and clinicians were recruited via email. Both groups were combined for phase 1 before separating into breakout rooms for phase 2. Two authors conducted reflexive thematic analysis of transcripts using NVivo. Results: Sixteen participants (caregivers n = 8; and clinicians n = 8) took part in in two semi-structured focus groups. Analysis generated two overarching domains, each comprising multiple themes. Domain 1, “Addressing caregiver mental health,” captured themes of overwhelm and invisibility, diverse caregiving roles, and the need for time and resources to support wellbeing conversations. Domain 2, “Housing the mental health conversation,” encompassed themes of screening preferences, caregiver agency in confidentiality, delivery of feedback, and access to tailored supports. Conclusions: Caregivers and clinicians support routine caregiver mental health discussions in paediatric outpatient settings. Caregivers favour screening at diagnosis and key transitions, with clear, and actionable feedback delivered away from the child. Questions about record-keeping warrant further exploration, as do the perspectives of fathers. Article Summary: This study explored parents’/caregivers’ and clinicians’ perspectives on mental health screening and support for parents of children with chronic conditions accessing paediatric outpatient clinics What’s known on this subject: Parents/caregivers of children with chronic conditions have a high mental health burden, with researchers calling for routine mental health screening in paediatric healthcare settings. Despite growing recognition of this, there is limited data on the implementation of screening methods and referral pathways. What this study adds: Direct consultation with caregivers and clinicians demonstrating they support mental health conversations and being embedded in routine paediatric care. It also demonstrates that caregivers need agency in screening preferences, feedback delivery, confidentiality in records and useful support services. Contributors Statement Page: Dr Nadia Coscini conceptualized and designed the study, designed the data collection instruments, collected data, carried out the initial analyses, drafted the initial manuscript, and critically reviewed and revised the manuscript. Associate Professor Melissa Mulraney and Dr Anneke Grobler conceptualized and designed the study, supervised data collection and critically reviewed and revised the manuscript. Professor Rebecca Giallo and Professor Harriet Hiscock conceptualized and designed the study, facilitated the focus groups, supervised data collection and critically reviewed and revised the manuscript. Dr Nicole Pope led the qualitative analysis including debriefing sessions and iterative theme development, drafted the initial manuscript, and critically reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, progressive muscle disease with no available disease‐modifying therapy. Creatine monohydrate (CrM) has been shown to improve muscle strength in individuals with muscular dystrophies but has not been tested in young people with FSHD. This study aimed to explore the efficacy of CrM on motor function in children with FSHD.Methods: In a randomized placebo‐controlled double‐blind crossover trial, powdered CrM at a dose of 100 mg/kg/day (maximum 10 g daily) was compared with placebo in two 12‐week treatment periods with a 6‐week washout between crossover arms. The primary outcome measure was the Motor Function Measure for Neuromuscular Disease (MFM‐32) with secondary outcomes assessing safety, endurance, strength, patient‐reported outcome measures, and muscle morphology measurements as assessed by whole‐body magnetic resonance imaging (MRI).Results: Thirteen children were enrolled (mean (standard deviation, SD) 12.2 (2.67) years of age) and 11 patients completed both trial treatment periods. In an intention‐to‐treat analysis, no clinically meaningful difference was seen between treatment groups as measured by the mean difference in MFM‐32 (0.19, 95% confidence interval (CI) −0.71 to 1.08). However, there was an improvement in 6‐minute walk distance of 27.74 m (95% CI −1.41 to 56.88) and trends to improvement in the FSHD‐Composite Outcome Measure for Pediatrics (FSHD‐COM Peds), 10 meter walk/run, and in MRI measures. There were no serious adverse events. Serum creatinine increased by a mean 12.63 μmol/L (95% CI 1.14 to 24.12) post‐CrM treatment, though this was presumed to reflect increased creatinine production. No participants discontinued CrM due to adverse events.Conclusion: CrM is safe and well tolerated in children with FSHD. Although CrM had no effect on motor function as measured by the MFM‐32 compared with placebo, there were trends toward improvement in the 6‐minute walk distance and other secondary outcome measures. This study confirms the feasibility of conducting clinical trials in children with FSHD. Further assessment of the efficacy of CrM in pediatric FSHD is warranted in a larger randomized controlled clinical trial. Future studies may benefit from stratifying population cohorts according to functional ability or by MRI fat infiltration measurements.