Etiological Profile of First Episode Seizures in Paediatric Patients at a Tertiary Care Centre: A Descriptive Cross-sectional Study.

INTRODUCTION: Seizures are the most common neurological emergency and one of the most common reasons for paediatrics hospital admissions. This study aimed to identify the etiology, clinical profile, and immediate outcome of children with the first episode of seizure in Eastern Nepal. METHODS: This was a prospective descriptive study carried out in the Tertiary Care Centre from September 2022 to August 2023. Ethical clearance was taken from the Institutional Review Committee (Ref no:654/2022). Convenience sampling was done to include 170 children presenting with the first episode of seizure at age 6 months to 15 years. Variables collected were demographics, clinical presentations, family history, trauma history, laboratory tests, neuroimaging, EEG, final diagnosis, and immediate outcome. RESULTS: A total of 170 patients were admitted with the first episode of seizure with 123 (72.36%) males and 47 (27.64%) females. The mean age of the patients was 5.13±2.95 years with 104 (61.18%) patients under 5 years of age. The most common seizure was generalized tonic-clonic type in 132 (77.64%) patients. The most common associated symptom was fever in 150 (88.23%) children. Neuroimaging was abnormal in 52 (30.59%) patients, with neurocysticercosis seen in 27 (15.88%). The most common etiology was febrile seizure in 92 (54.17%) patients, neurocysticercosis in 27 (15.88%), and meningitis in 12 (7.05%). CONCLUSIONS: Febrile seizures, neurocysticercosis, infection, and trauma were the major causes of seizures in children. When simple febrile seizures were unlikely, lumbar puncture, neuroimaging, and laboratory tests were useful tools for diagnosing etiologies of seizures.

Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features.

We present a case of a male term neonate with lethargy, hypotonia, hypoventilation and severe encephalopathy. The infant had a history of two siblings who died in the neonatal period from unclear causes. The infant exhibited skin and hair abnormalities, including desquamation of the extremities, angular stomatitis, cheilitis, neonatal acne and thin, sparse hair. Additionally, the infant had a tall stature; long, slender fingers and toes; and facial dysmorphism characterised by a long, narrow face with increased interpalpebral distance. The condition deteriorated rapidly, and unfortunately, death occurred before a definitive diagnosis could be established. Tandem mass spectrometry suggested low methionine and clinical exome sequencing identified a nonsense mutation in the MTHFR gene.

Prevalence of visual abnormalities detected through paediatric vision screening in Queensland, Australia.

BACKGROUND: Vision screening programs can provide epidemiological information regarding visual impairment in children. This study aims to report the characteristics of visual abnormalities diagnosed through the Primary School Nurse Health Readiness Program (PSNHRP) in Queensland, Australia. METHODS: A retrospective review of vision screening records from the PSNHRP between January 2017 and December 2020 was undertaken. Children aged between 4 and 7 who underwent vision screening were included for review. Children with a visual acuity of worse than 6/9-1 using the Parr 4 m letter-matching chart or those who failed the SPOT Vision Screener were referred to an optometrist or ophthalmologist for review. RESULTS: 164 890 children underwent vision screening. 12148 children failed visual screening (7.4%) and were referred for an eye assessment. 6011 (69.4%) of the 8659 children who attended ophthalmic review had a confirmed visual abnormality. Of 164 890 screened children, 1187 (0.72%) were confirmed to have anisometropia, 3843 (2.33%) had refractive error, 194 (0.12%) had strabismus, 755 (0.46%) had anisometropic amblyopia, 136 (0.08%) had strabismic amblyopia, and 1356 (0.82%) had an unspecific abnormality. There was no statistically significant difference in the age at screening between any visual abnormality (p = 0.94). Anisometropia, refractive error, and strabismus were significantly more common in females than males (p = 0.03, p < 0.01, and p = 0.03 respectively), whereas anisometropic amblyopia was more common in males (p < 0.01). CONCLUSIONS: We report the prevalence of visual abnormalities detected through the PSNHRP vision screening program. Identification of medical or socioeconomic risk factors that are likely to be associated with visual abnormalities can help to optimise vision screening programs.

Rare presentation of May-Thurner syndrome in childhood with lower abdominal ectopic kidney.

We report a case of a child who presented clinically with features of nephrotic syndrome and May-Thurner syndrome consecutively in the first decade of life. Initially, the nephrotic syndrome was diagnosed and treated. May-Thurner syndrome was suspected clinically in later childhood when there was remission of nephrotic syndrome with persistent left lower leg swelling. The specific imaging modalities are used to document the mechanical compression of the left common iliac vein by the lower abdominal ectopic left kidney before definite management. Our discussion highlights the role of various imaging modalities in the diagnosis of May-Thurner syndrome.

Challenges in Paediatric Xenotransplantation: Ethical Components Requiring Distinct Attention in Children and Obligations to Patients and Society.

The transplantation of non-human organs into humans, or xenotransplantation (XTx), has recently garnered new attention and is being developed to help address the problem of organ scarcity in transplantation. Ethical issues surrounding XTx have been studied since initial interest arose decades ago and have experienced renewed discussion in the literature. However, the distinct and relevant differences when applied to children has largely been overlooked with few groups attending to the concerns that XTx in children raises. In this paper, we explore ethical challenges to be expected in paediatric XTx, in particular exploring organ sizing concerns, infectious risks, psychological burdens, and issues of moral hazard. We review these domains with the aim of highlighting the implications of pursuing paediatric XTx and the cross-disciplinary approach needed to solve these issues. Children require a unique analysis from a bioethical perspective to best prepare for the issues XTx presents.

Association between early pulmonary arterial pressure measurements and bronchopulmonary dysplasia or mortality in very preterm infants: a prospective cohort study.

BACKGROUND: Prematurity is a significant risk for bronchopulmonary dysplasia related pulmonary artery pressure. OBJECTIVE: To determine the association between pulmonary artery pressure in the early days of life and the development of bronchopulmonary dysplasia or mortality. METHODS: This prospective observational cohort study included infants born at <32 weeks and weighing <1500 g. Pulmonary artery pressure was measured between postnatal days 3 and 7. Pulmonary hypertension was defined as systolic pulmonary artery pressure ≥40 mm Hg or systolic pulmonary artery pressure/systolic blood pressure >0.5 (pulmonary hypertension criterion-1). Infants were categorised into pulmonary hypertension and non-pulmonary hypertension groups. The primary endpoint was bronchopulmonary dysplasia or mortality. Receiver operating characteristic analysis established a new threshold value for predicting bronchopulmonary dysplasia or mortality (pulmonary hypertension criterion-2). Infants were reanalysed according to new criteria. RESULTS: A total of 329 infants were included in this study. Moderate-to-severe pulmonary hypertension was identified in 24% (n=79) of the infants. The pulmonary hypertension group exhibited a significantly lower gestational age, lower birth weight and a higher incidence of small for gestational age. Systolic pulmonary artery pressure >25 mm Hg or systolic pulmonary artery pressure/systolic blood pressure >0.35 was defined as the pulmonary hypertension criterion-2. Logistic regression analysis identified pulmonary hypertension criterion-2 as an independent risk factor for moderate-to-severe bronchopulmonary dysplasia or mortality (OR 2.67, 95% CI 1.3 to 5.51, p<0.01). CONCLUSION: Pulmonary artery pressure exceeding 25 mm Hg in the early days of life may be considered a potential risk factor for bronchopulmonary dysplasia or mortality.

Outcomes of tunnelled cuffed centrally inserted central catheter removal: A retrospective cohort study.

BACKGROUND: Most children with cancer will require a central venous access device (CVAD) to administer cancer treatment. A commonly used CVAD is a tunnelled cuffed centrally inserted central catheter (TC-CICC). There is little information available to guide best practice when removing this type of CVAD. At our institution, TC-CICCs are removed by using either the traction or dissection methods. This study will describe the outcomes associated with each technique. METHODS/RESULTS: A retrospective cohort study was undertaken at a quaternary children's hospital in Melbourne, Australia. Data related to characteristics of TC-CICC removal success, post-removal complications and an economic evaluation were carried out. There were 149 patients who underwent traction removal and 100 who had their TC-CICC removed using the dissection technique. In the traction group, 136/149 (91%) patients had their device successfully removed on the first attempt, whereas 99/100 (99%) were removed on the first attempt with dissection. Of the 136 successful traction removals, cuff status was documented in 72 cases. The cuff remained in situ in 46/72 (64%) cases, and six of 72 (8%) patients experienced a complication. There were no documented cases of cuff retention in the dissection group. In the 2019-2020 financial year, the estimated average cost of traction removal was A$387, whereas the estimated average cost of day case surgery was A$2560. CONCLUSION: This study has highlighted that the traction technique is a safe, efficient and cost-effective approach to TC-CICC removal. Further research is required to understand the patient and family experience of TC-CICC removal.

Lumbar spine Ewing sarcoma: A report of a rare localization.

INTRODUCTION: Ewing sarcoma is an aggressive tumor characterized by small round cells and diffuse CD99 positivity seen mainly in Caucasian childhood and adolescent demographics. Ewing sarcoma of spinal origin accounts for approximately 3-9 % of cases most of these cases affecting the sacrum, therefore lumbar lesions are considered quite rare. CASE REPORT: We report a case of lumbar Ewing sarcoma in a 6-year-old female who presented with back pain and neurological symptoms of spinal compression such as lower limb weakness, constipation, and urinary retention. MRI imaging confirmed the presence of a mass located at the level of L4 and L5 vertebrates causing spinal cord compression, The patient underwent local resection of the tumor, and a biopsy was sent for histology and immunophenotyping which affirmed the diagnosis of Ewing sarcoma. The patient was referred to an oncology center for follow-up chemotherapy. CLINICAL DISCUSSION: Ewing sarcoma is the second most common tumor of childhood and adolescence. However, a tumor arising from the spine is considered rare. It presents with localized symptoms of pain and fever but may cause neural compression symptoms. Accurate diagnosis relies mainly on radiological scans, histology, and immunohistochemical analysis. CONCLUSION: Although Ewing sarcoma of the lumbar spine is rare, it should always be considered among pediatric populations developing localized fever and pain. Early detection is crucial to avoid undesired outcomes.

Control of myopia using diffusion optics spectacle lenses: 4-year results of a multicentre randomised controlled, efficacy and safety study (CYPRESS).

AIMS: To evaluate the myopia control efficacy of Diffusion Optics Technology (DOT) spectacle lenses in children over a 4-year treatment period. METHODS: CYPRESS Part 1 (NCT03623074) was a 3-year multicentre, randomised, controlled, double-masked trial comparing two investigational spectacle lens DOT designs (Test 1, Test 2) and standard single vision Control lenses in 256 North American children aged 6-10 years. Children completing Part 1 (n=200) were invited to enrol in CYPRESS Part 2 (NCT04947735) for an additional 1-year period. In Part 2, Test 1 (n=35) and Control groups (n=42) continued with their original lens assignment and the Test 2 group (n=21) were crossed over to Test 1 (DOT 0.2) lenses. The co-primary endpoints were change from baseline in axial length (AL) and cycloplegic spherical equivalent refraction (cSER). RESULTS: Test 1 spectacle lenses demonstrated superiority to the Control in both co-primary endpoints: with a difference between means (Test 1-Control) of -0.13 mm for AL (p=0.018) and 0.33 D for cSER (p=0.008) in Part 1 and -0.05 mm for AL (p=0.038) and 0.13 D for cSER (p=0.043) in Part 2. Comparing treatment effects in Part 1 and 2 suggests that COVID-19 public health restrictions negatively impacted treatment efficacy in study years 2 and 3. CONCLUSION: DOT 0.2 spectacle lenses are safe and effective at reducing myopia progression, with additional benefit evident in year 4 of wear. These results support the hypothesis that a mild reduction in retinal contrast can slow myopia progression in young children. The unprecedented disruption in participant schooling and lifestyle during the COVID-19 pandemic may have depressed treatment efficacy in Part 1.

Influence of temperament on early neurodevelopmental disorders: a systematic review protocol.

INTRODUCTION: Several studies have highlighted the role of temperament as a relevant construct to understand the wide variability observed in neurodevelopmental disorders (NDDs) such as autism spectrum disorder and attention deficit hyperactivity disorder. Some studies have pointed to temperamental traits such as strained control as possible precursors to the development of these disorders. In addition, how temperament influences high-risk populations, as well as intervention programmes aimed at families, has been investigated. METHODS AND ANALYSIS: This paper presents the protocol that will be followed to carry out a systematic review, the objective of which is to know how child temperament is related to the different domains of development in children with NDD or the risk of suffering from it. The search strategy will be implemented in Web of Science (WoS Core Collection), PubMed, ERIC, PsycINFO and Cochrane databases. The risk of bias will be measured by the Newcastle-Ottawa Scale to carry out the integration of the results obtained to synthesis without meta-analysis will be used. This systematic review aims to improve scientific evidence for institutions and professionals and enhance the effectiveness of early care programmes for children with NDD and their families. ETHICS AND DISSEMINATION: No express approval has been sought from any ethics committee because there is no primary data involved and no access to confidential patient information. PROSPERO REGISTRATION NUMBER: CRD42023445173.

Evaluation of the effect of CYP2D6 and OCT1 polymorphisms on the pharmacokinetics of tramadol: Implications for clinical safety and dose rationale in paediatric chronic pain.

AIMS: Our investigation aimed to assess the dose rationale of tramadol in paediatric patients considering the effect of CYP2D6/OCT1 polymorphisms on systemic exposure. Recommendations were made for the oral dose of tramadol to be used in a prospective study in children (3 months to < 18 years old) with chronic pain. METHODS: Intravenous pharmacokinetic and genotype data from neonatal patients (n = 46) were available for this analysis. The time course of tramadol and O-desmethyltramadol (M1) concentrations was characterized using a nonlinear mixed effects approach in conjunction with extrapolation principles. Clinical trial simulations were then implemented to explore the effects of polymorphism, maturation and developmental growth on the disposition of tramadol and M1. Reported efficacious exposure range in adult subjects were used as reference. RESULTS: The pharmacokinetics of tramadol and M1 was characterized by a two-compartment model. The total clearance of tramadol (CLPP) comprised CYP2D6-mediated metabolism (CLPM) and other pathways (CLPO). Age-related changes in CLPM, CLPO and M1 clearance (CLMO) were described by a sigmoid function, with CYP2D6 as a covariate on CLPP and CLPM,  and OCT1 on CLMO. Simulation scenarios including different CYP2D6/OCT1 combinations revealed that steady-state concentrations are above the putative ranges for analgesia in >15% and >70% of subjects after doses of 3 and 8 mg/kg, respectively. CONCLUSIONS: In the absence of genotyping, reference exposure ranges can be used to define the dose rationale for tramadol in paediatric chronic pain. However, a starting dose of 0.5 mg/kg/day should be considered, followed by stepwise titration to the desired analgesic response.

Development of international guidelines by Tuina practitioners for specific acupoints of paediatrics Tuina (2022 version).

OBJECTIVE: To establish a standardized framework encompassing the precise locations, manipulations, functions and indications of specific acupoints in the field of paediatric Tuina. METHODS: The development of consensus involved three distinct stages. Initially, a list of paediatric Tuina specific acupoints was compiled based on an extensive literature review, which was subsequently supplemented through expert interviews. In the second stage, the Delphi method was employed to assess the significance of acupoint locations, manipulations, functions, and indications. In situations where the questionnaire survey failed to yield agreement or when the experts held reservations, the nominal group approach was utilized during the expert consensus meeting. The final version of the technical standardized material was ultimately determined during an expert consensus conference. After undergoing external peer review and evaluation, the completed draft was prepared for public dissemination RESULTS: The comprehensive list identified a total of 66 specific acupoints. The location and manipulation questionnaire consisted of 156 items based on the literature database, while the function and indication questionnaire contained 116 items. Two rounds of Delphi surveys were conducted for the location and manipulation category, and another two rounds of Delphi surveys were conducted for the function and indication category. During the experts consensus meeting The panel of experts conducted in-depth discussions on 61 questions, resulting in the formulation of technical guidelines for the locations, manipulations, functions, and indications of 64 paediatric Tuina acupoints. Subsequently, the research team compiled and edited the draft of the technical guidelines for acupoints of paediatric Tuina, which was finalized after external review and feedback. CONCLUSION: This study successfully established the recognized technical standards for practitioners of paediatric Tuina, thereby standardizing clinical practices and providing a foundation setting the framework for future research. The guidelines offer theoretical insights and recommendations for conducting clinical studies comparing different acupoint sites, as well as modifying or enhancing treatment regimens.

Paediatric family activation rapid response (FARR) in acute care: a qualitative study for developing a multilingual application (app) intervention.

BACKGROUND: Delayed recognition of clinical deterioration can result in harm to patients. Parents/carers can often recognise changes in the child's condition before healthcare professionals (HCPs). To mitigate the risk of failure to rescue and promote early intervention, family-activated rapid response (FARR) systems are part of family-integrated care. Mechanisms for parents/carers to escalate concerns regarding their child's clinical status remain limited to direct verbal communication, which may impede those with communication/linguistic challenges. AIM: To develop a digital multilingual intervention by which families/carers can escalate their concerns directly to the rapid response team while in acute paediatric care. METHODS: A single-centre qualitative, co-design app development study was conducted. Evidence synthesis from a systematic review of the international literature informed interviews on intervention prototype development using co-design focus groups. Participant recruitment targeted underserved communities for multilingual functionality validity. Data were analysed using qualitative content analysis. RESULTS: Thirty parents/carers (n=16) and HCPs (n=14) participated in the study. Three themes were generated from the data analysis: (1) relational considerations; communication, professional and parental attributes, and collaborative working; (2) technology considerations; app content, usage and outcomes; and (3) individual and environmental considerations; parental and professional elements, and workload. A FARR app prototype was developed based on the data. CONCLUSION: The prototype app provides a platform to develop a coordinated and consistent technological approach to paediatric FARR that acknowledges cultural nuances and preferences, ensuring that parents can communicate in a manner that aligns with their cultural background and communication abilities, thereby enhancing the quality of care delivered.

Effectiveness of caregiver educational materials for paediatric community-acquired pneumonia in the emergency department: a qualitative study.

OBJECTIVES: The objective of this study was to better understand caregiver perspectives on educational materials relating to paediatric community-acquired pneumonia and antibiotic stewardship in the emergency department setting. METHODS: This was a phenomenologically informed qualitative study. Caregivers of young children in Hamilton, Ontario were presented with four educational materials (animated video, physician led lecture-style video, caregiver led testimony-style video, and a printed brochure) providing information relating to treatment strategies for community-acquired pneumonia. Caregivers were then asked open-ended questions about how they felt about the effectiveness of the media used. The principles of conventional content analysis guided the coding and synthesis of the transcribed interviews. RESULTS: Eleven caregivers were interviewed. Most caregivers preferred the animated video and brochure to the lecture-style physician video and caregiver testimonial video. Common themes for effective educational materials included visually attention-grabbing graphics, accessible language, and formats they could reference following their visit (e.g. brochure). CONCLUSIONS: The busy nature of the emergency department setting can impede effective communication between clinicians and parents. Employing educational materials may allow for more informed parent-provider communication on care decision making. Caregivers in our study prioritized the simplest information formats for education around community-acquired pneumonia and antimicrobial stewardship which could be referenced following discharge. This was best accomplished by short, animated videos and brochures. Results from this study can inform development of future educational materials used in paediatric emergency department settings to optimize caregiver education and corresponding care plan adherence.

RéSUMé: OBJECTIFS: L'objectif de cette étude était de mieux comprendre les perspectives des soignants sur le matériel éducatif relatif à la pneumonie acquise dans la communauté pédiatrique et à la gérance des antibiotiques dans le milieu du service d'urgence. MéTHODES: Il s'agissait d'une étude qualitative à base de données phénoménologiques. Les aidants naturels de jeunes enfants à Hamilton, en Ontario, ont reçu quatre documents éducatifs (vidéo animée, vidéo de présentation par le médecin, vidéo de témoignage par le soignant et brochure imprimée) qui fournissent des renseignements sur les stratégies de traitement pour la communauté pneumonie acquise. On a ensuite posé aux aidants des questions ouvertes sur leur opinion au sujet de l'efficacité du média utilisé. Les principes de l'analyse conventionnelle du contenu ont guidé le codage et la synthèse des entrevues transcrites. RéSULTATS: Onze aidants naturels ont été interrogés. La plupart des aidants préfèrent la vidéo animée et la brochure à la vidéo de présentation du médecin et à la vidéo de témoignage de l'aidant. Les thèmes communs pour un matériel pédagogique efficace comprenaient des graphiques visuellement accrocheurs, un langage accessible et des formats auxquels ils pourraient se référer après leur visite (p. ex., brochure). CONCLUSIONS: La nature occupée du service d'urgence peut entraver une communication efficace entre les cliniciens et les parents. L'utilisation de matériel éducatif peut permettre une communication plus éclairée entre les parents et le fournisseur de soins sur la prise de décisions en matière de soins. Les soignants de notre étude ont donné la priorité aux formats d'information les plus simples pour l'éducation sur la pneumonie communautaire et la gérance des antimicrobiens qui pourraient être référencés après le congé. Le meilleur moyen d'y parvenir était de présenter des vidéos et des brochures courtes et animées. Les résultats de cette étude peuvent éclairer le développement du matériel pédagogique futur utilisé dans les services d'urgence pédiatriques pour optimiser l'éducation des soignants et l'adhésion aux plans de soins correspondants.

Complex Decision-Making in Paediatric Intensive Care: A Discussion Paper and Suggested Model.

Paediatric Intensive Care Units (PICU) are complex interdisciplinary environments where challenging, high stakes decisions are frequently encountered. We assert that appropriate decisions are more likely to be made if the decision-making process is comprehensive, reasoned, and grounded in thoughtful deliberation. Strategies to overcome barriers to high quality decision-making including, cognitive and implicit bias, group think, inadequate information gathering, and poor quality deliberation should be incorporated. Several general frameworks for decision-making exist, but specific guidance is scarce. In this paper, we provide specific guidance on collaborative complex decision-making for PICUs. The proposed approach is on principles of procedural justice and pragmatic hermeneutics. The process encompasses set-up/planning, information gathering, question formulation, analysis (perspectives, values, and principles), action plan development, decision documentation, and a review and appeal mechanism. The process can be adapted to suit other clinical contexts. Research evaluating the process, exploring how best to develop education for clinicians, and how to build a culture that values high quality deliberation, is worthwhile.

Variability in pediatric and neonatal organ offering, acceptance and utilization: a survey of Canadian pediatric transplant programs and organ donation organizations.

Introduction: Solid organ transplantation in children is a lifesaving therapy, however, pediatric organ donation rates remain suboptimal. Methods: We conducted a cross-sectional survey of Canadian organ donation organizations (ODOs) and pediatric transplant programs (TPs), aiming to describe policies and practices for pediatric organ allocation, acceptance, and utilization in Canada. Results: Response rates were 82% and 83% respectively for ODOs and transplant programs comprising 7 kidney, 3 heart, 2 lung, 2 liver and 1 intestine programs. All 9 ODOs reported offering pediatric organs following death by neurological criteria (DNC), while 8 reported offering organs following death by circulatory criteria (DCC) for some organs. Variability was found across ODOs and TPs. There was little agreement on both absolute and organ-specific donor exclusion criteria between ODOs. There was further disagreement in organ specific acceptance criteria between ODOs and TPs and between TPs themselves. Notably, despite the development of pediatric donation after DCC guidelines, organs from DCC donors are excluded by many ODOs and TPs. Discussion: Further variability in pediatric specific training, policies, and allocation guidelines are also documented. Significant areas for improvement in standardization in organ acceptance, offering, and allocation in pediatric donation and transplantation across Canada were identified.

Longitudinal management in Duchenne muscular dystrophy with exon 63 duplication.

A boy with nonambulatory Duchenne muscular dystrophy (DMD) tested positive for exon 63 duplication and exhibited intellectual disability, overweight and dyslipidaemia. The patient underwent a comprehensive multidisciplinary approach involving pharmacological and non-pharmacological interventions. Despite challenges, such as socioeconomic constraints and limited access to advanced therapies, the patient received tailored care. The management included prednisone medication, dietary modifications and psychological support. The patient's journey highlighted the complex interplay of medical and psychosocial factors affecting DMD patients in resource-limited settings. Regular monitoring and the involvement of the patient's family in a peer group were arranged to improve overall quality of life. The case underscores the need for accessible and holistic care for DMD patients, addressing both medical and psychosocial challenges.