Michael Collingwood Fahey

Aim: This study aimed to examine sensory processing patterns, the frequency and impact of parent‐reported pain in children who toe walk across a range of diagnoses using validated caregiver‐report tools. Methods: An online cross‐sectional survey was distributed internationally between July 2024 and March 2025. Parents of children who toe walk aged 3–14 years, regardless of diagnosis, completed the Short Sensory Profile (SSP) and the Child Activity Limitations Interview‐9 (CALI‐9). Results: The survey collected responses from 176 parents of 187 children with toe walking gait. Sensory processing challenges were frequently reported, particularly in children with autism spectrum disorder (98%). Nearly half (48% of 187) of children were reported to experience pain, most frequently in the feet/ankles, lower legs, and hips/thighs. Most parents (94%) and their child's medical professional (81%) attributed their child's pain to toe walking. Parents of children experiencing pain described significantly greater limitations in activities such as sports (OR 3.10, p < 0.001), running (OR 3.46, p < 0.001), and social participation (OR 2.43, p < 0.001). Conclusion: Sensory processing differences and pain were frequently reported among children who toe walk in this sample. Routine assessment of sensory processing and pain in clinical practice may guide targeted interventions to improve participation, function, and quality of life.

Objective: To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes. Methods: Thirty‐seven children with KCNQ2 neonatal epilepsy were recruited from five pediatric centers. We reviewed demographic, clinical, EEG, and genetic data. We determined differences in outcomes between individuals with prompt (greater than 30 days from seizure onset) and later genetic diagnosis, and we identified neonatal factors associated with developmental outcome. Results: Baseline characteristics were similar between children with prompt ( n = 6, median age at genetic diagnosis 15 days) and later ( n = 31, median age 309 days, p < .05) diagnosis. All with prompt diagnosis received sodium channel blocking (SCB) anti‐seizure medication (ASM) in the neonatal period compared with 15/31 (48%) in the later diagnosis group. Children with prompt diagnosis had higher rates of seizure freedom at age 12 months than those with later diagnosis (6/6 [100%] vs. 17/31 [54%]; p .049], and lower number of emergency department representations (median 0 vs. 2), and hospital readmissions (median 0 vs. 1). Factors in the neonatal period associated with abnormal developmental outcome included neurological abnormalities (e.g., abnormal tone) and markedly abnormal neonatal EEG background (11/11 [100%] with markedly abnormal EEG vs. 11/24 [46%] with normal to moderately abnormal EEG). Significance: Prompt genetic diagnosis was associated with targeted therapy, resulting in improved seizure control and reduced hospital representation. Clinical features present in the neonate assist in predicting outcome severity, which is critically important in counselling families receiving a KCNQ2 diagnosis soon after seizure onset. Plain Language Summary: In KCNQ2 neonatal epilepsy, sodium channel blocking antiseizure medicines are recommended, but the benefits of starting treatment early have been uncertain. Our findings show that prompt genetic diagnosis enabled early targeted treatment, with potential to improve outcomes. Specifically, prompt genetic diagnosis was associated with improved seizure control and reduced hospital visits compared with delayed diagnosis. However, a prospective, long‐term study is needed to determine whether early treatment also improves developmental outcomes. Predicting outcome severity in newborns remains challenging, although abnormal neurological examination and markedly abnormal EEG in the newborn period were linked to abnormal developmental outcomes.

There are limited population-based data on the incidence and risk factors for childhood stroke, including associations with recent infection and vaccination. Therefore, we aimed to determine (1) the incidence of childhood ischemic and hemorrhagic stroke and (2) associations between a recent infection or vaccination and the risk of childhood stroke. A population-based case-control study was undertaken using linked administrative data from 2017 to 2023 in Victoria, Australia. All residents, aged 28 days to <18 years, were included. Infections in the 60 days immediately before admission were ascertained using state-wide notifiable infections and hospital admissions data sets. Vaccinations in the 42 days immediately before admission were ascertained using the Australian Immunisation Register. Strokes were identified in state-wide hospital admissions and death registry databases. Each case of childhood stroke was matched with up to 5 nonstroke controls on age (1-year bands), sex, socioeconomic position, comorbidities, and year. Conditional logistic regression was used to examine associations between infection and vaccination with childhood stroke. Over the 7 years, 571 childhood strokes (60% ischemic; median age 8.2 years; 44% female patients) occurred among 9,881,934 person-years (5.8 events [95% CI 5.3-6.3] per 100,000 person-years). Two in 5 patients had evidence of an infection in the preceding 60 days, with lower respiratory infections (n = 74), sepsis (n = 67), upper respiratory tract infections (n = 63), meningitis/encephalitis (n = 40), gastrointestinal tract infections (n = 28), and urinary tract infections (n = 22) being the most common. Children with stroke (vs matched controls) were more likely to have had a recent infection (cases 41.9% vs controls 18.6%; adjusted odds ratio [aOR] 2.54, 95% CI 1.97-3.27). The magnitude of this association was greater for ischemic stroke (aOR 3.39, 95% CI 2.45-4.69) than hemorrhagic stroke (aOR 1.90, 95% CI 1.24-2.90). No significant association was detected between recent vaccination and childhood stroke (cases 4.2% vs controls 2.5%; aOR 1.69, 95% CI 0.92-3.09). We provide contemporary data on new cases of childhood stroke in Australia, using population-wide linked data. Having a recent infection doubled the risk of childhood stroke. We found no significant evidence of an association between vaccination and childhood stroke.

Objective: To evaluate the implementation of a publicly funded statewide perinatal exome sequencing (ES) program in Victoria, Australia, focusing on eligibility, diagnostic yield, clinical utility, and equity. Methods: We conducted a retrospective cohort study of ES referrals for fetal anomalies from 2018 to 2022. Eligibility was assessed by multidisciplinary teams at four tertiary fetal medicine units. We examined approval rates, referral indications, diagnostic yield, turnaround time, timing (prenatal or postmortem), and pregnancy outcomes. Subgroup analysis was conducted for prenatal and postmortem cases. Differences in proportions were assessed using z‐tests ( p < 0.05 significant). Results: Of 195 referrals, 179 (93%) were approved for publicly funded ES. Diagnostic yield was 38%, similar in prenatal (37.5%) and postmortem (38%) cases. In prenatal cases, termination was significantly more frequent when a causative variant was identified (67% vs. 17%, p < 0.0001). Most ES recipients lived in metropolitan areas (77% vs. 68%, p = 0.01), with no significant disparities in socioeconomic status or migrant background. Conclusion: This study demonstrates the feasibility and clinical utility of a state‐funded MDT‐led perinatal ES program in Australia. It highlights equitable access across population groups, supports the value of structured implementation, and underscores the need for ongoing evaluation to ensure equitable genomic care delivery.

Inherited myopathies are a group of disorders with diverse and complex genetic aetiologies. The causative genetic variants vary widely in type, size and sequence context, encompassing small sequence variants and large structural variants in protein-coding genes, mitochondrial variants, repeat expansions, and more complex events, such as the chromosome 4 D4Z4 macrosatellite contraction and hypomethylation that causes facioscapulohumeral muscular dystrophy (FSHD). This poses a challenge for analysis with next generation sequencing and other molecular methods. This is further compounded by phenotypic variability between patients and phenotypic overlap of different forms of genetic myopathy. To accelerate myopathy research and improve diagnosis we have developed a targeted long-read sequencing assay and an integrated bioinformatics analysis framework that captures the full suite of genes, variants and epigenetic signatures currently implicated in all forms of inherited myopathy. Applying this to a cohort of 53 myopathy patients with and without previous genetic diagnoses, we demonstrate the analytical validity of our approach, as well as its improved accuracy and resolution compared to existing methods - especially for FSHD. Our LRS assay identified an array of new information about the genetic and epigenetic landscape of inherited myopathies and provided new diagnoses for 29% of patients who had remained undiagnosed following clinical genetic testing. In our cohort, FSHD and oculopharyngodistal myopathies were the most common new diagnoses that were missed or mis-diagnosed by standard clinical genetic testing. Our new method constitutes a single streamlined assay for comprehensive genetic and epigenetic characterisation of inherited myopathies.

Background: Despite the potential benefits of genomic testing for children with unique body features and/or developmental differences, these tests are underutilised by paediatricians. Aim: To co‐design, implement and evaluate interventions to support paediatricians in overcoming barriers to requesting funded genomic tests. Methods: A mixed‐methods approach was taken. Co‐design workshops with paediatricians, parents and genetic health professionals informed the development of multi‐modal interventions. Evaluation, guided by the RE ‐ AIM framework: data were surveys, website analytics, test request audits and interviews. Results: The multi‐modal intervention was a website, genetic expert consultation service and teaching clinic. Implementation of the intervention was supported by awareness‐raising activities. Evaluation showed the website was accessed by 222 paediatricians in the first 12 months. Survey responses ( T1 , 1‐month post‐access: 11/218, 5%; T2 , 3‐months post‐access: 14/218, 6%) indicated that confidence in knowledge‐based areas increased and remained elevated 3 months after website access; skill‐based confidence was also elevated but not sustained. The genetic expert consultation service, though accessed less than anticipated, provided valued support. The teaching clinic in metropolitan Melbourne offered experiential learning opportunities aimed at skill development. The clinic had 62 appointments with 39 patients. Thirteen paediatricians attended the clinic for experiential learning and 9 set learning goals. During the intervention period, requests for funded genomic tests by paediatricians increased by 227% compared to pre‐intervention. Qualitative data (interviews with 12 paediatricians and 4 genetic experts) revealed paediatricians gained practical skills and confidence to assess child eligibility, discuss testing with parents and complete test requests. Conclusions: The interventions helped increase paediatrician confidence and skills, highlighting the importance of combining knowledge transfer with experiential learning to support comprehensive practice change. These results offer a foundation for ongoing efforts to support wider, more equitable use of genomic tests. Long‐term evaluation would further assess the impact on paediatrician practice. The study demonstrates the value of co‐designed, multi‐modal interventions in addressing complex practice changes in healthcare.

Objectives: To examine variation in practice and adherence to international clinical guidelines for the management of fever among Australian Emergency Department (ED) clinicians. Methods: Cross‐sectional survey across 22 Australian EDs. Clinical vignettes were used to determine compliance with international best practice guidelines (use of antipyretic monotherapy to alleviate fever‐associated child distress) for paediatric fever treatment. Comparisons were made between specialist paediatric EDs and general (non‐specialist paediatric) EDs, and between medical and nursing staff. Results: Of 539 survey respondents (300 doctors, 239 nurses; overall response rate 65.9%), only 9.3% (50/539, 95% confidence interval [CI] 7.1%–12.0%) adhered to evidence‐based practice guidelines. Specialist paediatric ED clinicians demonstrated less than half the adherence of those from general EDs (5.4% [11/204] vs. 12.4% [38/307], difference −7.0%, 95% CI −11.7% to −1.9%). In a febrile settled child with normal hydration, the proportion of respondents who opted for antipyretics more than doubled in the context of elevated vital signs (40.4% [218/539] vs. 83.1% [44/539], difference −42.7%, 95% CI −46.8% to −38.2%). Nearly half of respondents (239/539, 46.8%, 95% CI 42.4%–51.2%) endorsed giving combined antipyretic therapy. In a febrile settled child, most participants would give antipyretics for temperature reduction (453/539, 84.0%, 95% CI 80.7%–86.9%) and for decreased fluid intake (468/539, 87.5%, 95% CI 84.4%–90.0%). Over one‐third (192/539, 36.0%, 95% CI 32.1%–40.2%) recommended using antipyretics for febrile convulsion prevention during the current illness. Conclusions: Fewer than 10% of Australian ED clinicians self‐report practice consistent with international consensus recommendations for paediatric fever management.

Objective: To explore time thresholds for ‘persistent tachycardia’ in children among Australian emergency department clinicians.Methods: Online cross‐sectional survey of emergency department clinicians. Respondents were asked to indicate the duration in hours they considered that a tachycardia in a child would be classified as ‘persistent’.Results: Among 499 respondents, 304 (60.9%) identified tachycardia as ‘persistent’ by 2 h, and 471 (94.3%) by 4 h; the most common response was 2 h (147 (51.2%) doctors; 78 (36.8%) nurses).Conclusions: Time based thresholds for ‘persistent tachycardia’ differ. This has implications for its use in rapid‐response systems and early recognition of serious illness.