OBJECTIVES/SPECIFIC AIMS: Children with medical complexity (CMC) comprise less than 5% of the pediatric population and over 40% of pediatric spending, yet receive poorer quality health care compared with other children. The American Academy of Pediatrics recently identified shared decision making (SDM) as a key quality indicator for CMC, but there is no consensus model for SDM in CMC. Objective: To create a model of SDM from perspectives of parents of CMC. METHODS/STUDY POPULATION: Interviews with parents of CMC explored SDM preferences and experiences. Eligible parents were ≥18 years old, English-speaking or Spanish-speaking, with a CMC <12 years old. Interviews were recorded, transcribed, and analyzed by 3 independent coders for shared themes using grounded theory. RESULTS/ANTICIPATED RESULTS: Interviews were with 31 parents [26 English speakers, median parent age 33 years (SD 11), median child age 3 years (SD 3.6)] in inpatient and outpatient settings. We identified specific, unique components of SDM that affect decision quality, the alignment of a decision with the parent’s preferences and values. Themes included: concerns about uncertainty of the child’s life trajectory, conflict during parent-provider communication, health system factors such as provider schedule; parent agency, and the influence of the source of information. DISCUSSION/SIGNIFICANCE OF IMPACT: Our findings provide specific components of SDM unique to CMC that can inform future research and interventions to support SDM for parents and providers of CMC.
Introduction Dans le cadre de la pandémie liée à la COVID-19, l’État français a mis en place des mesures de confinement obligeant les parents à rester chez eux avec leurs enfants, tout en assurant, en plus des tâches quotidiennes et du travail, leur scolarité. Objectif L’objectif de cette publication est de présenter les modifications des relations parents-enfants et entre conjoints pendant cette période et leurs principales sources selon les parents. Méthode Un questionnaire en ligne du 28 avril 2020 au 29 mai 2020 a permis le recueil des données de 490 familles françaises ayant au moins un enfant de moins de six ans. Une analyse de contenu du corpus discursif a été réalisée avec le logiciel NVivo (version 10). Un traitement statistique quantitatif (réalisé par le logiciel STATA, version 16.1) a testé les relations entre les variables sociodémographiques, ainsi que celles relatives au vécu des parents, et les relations intrafamiliales « tendues » et « renforcées ». Résultats Si pour 33,3 % des répondants, les relations familiales ne se sont pas modifiées, elles se sont renforcées pour 42,5 % et tendues pour près d’un quart (24,3 %). Conclusion Comprendre les sources des tensions vécues par les familles de jeunes enfants pendant le confinement, ainsi que ce qui a permis à d’autres familles de mieux vivre cette situation, peut permettre une mise en place de mesures visant à prendre en charge les conséquences du mal-être généré par la vie confinée et à éviter de troubles psychologiques ultérieurs lors de possibles prochains confinements.
Pinel-Jacquemin S, Martinasso M, Martinez A et al.
OBJECTIVES/SPECIFIC AIMS: The objective of this study is to determine predictors and motives for sustained opioid use, prescription misuse, and nonmedical opioid use in the adolescent trauma population. METHODS/STUDY POPULATION: This is a prospective cohort study that will follow patients for 1 year and administer surveys to patients on prescription opioid usage; substance use; utilization of pain management and mental health services; mental and physical health conditions; and behavioral and social risk factors. Patient eligibility criteria include: (1) patient is 12–18 years of age; (2) admitted for trauma; (3) english speaking; (4) resides within Indianapolis, IN metropolitan area; and (5) consent can be obtained from a parent or guardian. Patients with severe brain injuries or other injuries that prevent survey participation will be excluded. The patient sample will comprise of 50 traumatically injured adolescents admitted for trauma who will be followed for 12 months after discharge. RESULTS/ANTICIPATED RESULTS: We expect that the results of this study will identify multiple risk factors for sustained opioid use that can be used to create targeted interventions to reduce opioid misuse in the adolescent trauma population. Clinical predictors such as opioid type, dosage, and duration that can be modified to reduce the risk of long-term opioid use will be identified. We expect to elucidate clinical, behavioral, and social risk factors that increase the likelihood adolescents will misuse their medication and initiate nonmedical opioid use. DISCUSSION/SIGNIFICANCE OF IMPACT: Trauma is a surgical specialty that often has limited collaboration with behavioral health providers. Collaborative care models for trauma patients to adequately address the psychological impact of a traumatic injury have become more common in recent years. These models have primarily been concerned with the prevention of post-traumatic stress disorder. We would like to apply the findings of our research to better understand what motivates adolescents to misuse pain medications as well as how clinical, individual, behavioral, and social factors affect medication usage. This may help identify patients at greater risk of developing a SUD by asking questions not commonly addressed in the hospital setting. For example, similar to how trauma centers have mandated brief interventions on alcohol use be performed for center verification, screening patients’ on their social environment may identify patients at greater risk for SUD than assumed. The long-term goal would be to prevent opioid use disorders in injured adolescents by providing better post-acute care support, possibly by developing and implementing a collaborative care model that addresses opioid use. Additionally, we believe our findings could be applied in the acute care setting as well to help inform opioid prescribing and pain management methods in the acute phase of an injury. Genetic testing to determine which opioid to prescribe pediatric surgical patients is starting to be done at some pediatric hospitals. Certain genes determine which specific opioid is most effective in controlling a patient’s pain and, further, using the optimal opioid medication can also reduce overdose. Our findings may help refine prescribing patterns that could increase or decrease the likelihood of developing SUD in patients with certain genetic, clinical, behavioral, and social characteristics.
Abstract Plexiform neurofibromas (PN) in NF1 are diagnosed in early childhood and may grow rapidly during this period. In 10% of patients they involve the orbital-periorbital area and may cause visual problems including glaucoma and visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression or keratopathy. Ptosis, proptosis and facial disfigurement lead to social problems and decreased self-esteem. Complete surgical removal is usually impossible and there is a tendency for regrowth after debulking. Recently inhibitors of the RAS/MAPK pathway have been investigated for their activity in PN. We describe 5 young children with NF1 and PN of the orbital area treated with the MEK inhibitor trametinib followed clinically and by volumetric MRI. Treatment was initiated at mean age 26.8 months (SD ±12.8) and continued for median 25 months (range 17– 48). Reasons for initiating treatment were visual compromise and progressive tumor growth. Doses were as recommended. One child reported decreased orbital pain after one week and another, with involvement of the masseters, had increased ability to chew food. Toxicities were mostly to skin and nails grades 1–2 as expected. Additionally, 60% had debulking surgery of preseptal eyelid tumor in first year of medical treatment. Volumetric MRI measurements showed reduction of 8–26% at 1 year from baseline with a maximal reduction of 45% in two patients at 22 & 45 months. No change in visual function was recorded following treatment initiation. In conclusion, trametinib may decrease tumor size in young children with orbital PN and may prevent progressive disfigurement.
Abstract Previous studies have identified the early origins of physical frailty, notably poor childhood health and socioeconomic status, but relatively few studies examine whether social support in later life mitigates the influence of early noxious exposures on frailty. Given the established relationship between health and social relationships in older adults, this research uses data from the Health and Retirement study (2004-2016) to examine whether social support and strain mediate the effect of childhood exposures on frailty in later life. A series of linear regression and pathway models were estimated to test whether childhood exposures, including socioeconomic status, infectious and chronic diseases, impairments, and risky adolescent parental behaviors, were associated with phenotypic frailty (Fried et al. 2001). After adjusting for demographic and adult factors, accumulated childhood misfortune was directly (b=0.015, p<.01) and indirectly (b=0.007, p<.001) associated with more frailty. Average social support, but not strain, from one’s spouse, children, family and friends significantly mediated the relationship between accumulated misfortune and frailty (b= -.002, p<.01). Path analysis revealed that social support reduces later life frailty directly (b=-0.106 ,p<.001) and indirectly through a reduction in adult morbidity (b=-0.031, p<.001). However, counterintuitively we found that accumulated misfortune was associated with more social support. Supplemental analyses reveal that one or more infectious diseases in childhood were responsible for the positive relationship (b= 0.393, p<.001). These results have implications for how we may reduce the burden of frailty on those who have experienced misfortune early in life.
Aim This study is aimed at establishing the top research priorities in pediatric hospital care that are relevant and meaningful to local pediatric consumers and healthcare professionals to optimize local service outcomes. Methods This study adopted a modified consensus-based research priority-setting design, utilizing James Lind Alliance (JLA) methodology led by a steering committee comprising consumers (parents, carers, and previous patients) and healthcare professionals. The study was conducted at a regional Australian tertiary hospital providing whole-of-life health services from April 2023 to June 2024. The six-stage study design consisted of (1) initiation, (2) consultation, (3) collation, (4) interim ranking, (5) final priority setting, and (6) dissemination. Results Equal representation of consumers and healthcare professionals was achieved during the priority-setting processes, with active consumer partnership during research design, data collection, analysis, and dissemination phases. A total of 104 unique research submissions were generated through the harvesting survey (n = 104), and following screening and synthesis, 21 indicative research uncertainties were identified. Following interim prioritization (n = 110) and final refinement through a consensus workshop (n = 24), the Top 5 pediatric research priorities were established: reducing healthcare-related trauma, upscaling pediatric-centered support strategies and infrastructure, enhancing effective communication, enhancing adolescent and young adult services, and improving efficiency and care as children move through a whole-of-life health service. Conclusion These research priorities align with those of other international pediatric healthcare services while highlighting unique local contextual differences. Notably, reducing trauma associated with healthcare experiences emerged as a central priority. Our modified JLA approach appears to be an effective framework for engaging research end-users in establishing relevant and meaningful research priorities tailored to local health-service needs. Future initiatives should continue to ensure consumers are active coinvestigators to ensure outcomes remain patient-centered and community-focused.
Abstract Introduction: Aryl hydrocarbon nuclear translocator 2 (ARNT2) is a basic helix-loop-helix (bHLH)-PAS (Per/Arnt/Sim) transcription factor shown to be critical to the development of paraventricular nucleus of the hypothalamus (PVN), key region for energy homeostasis and feeding response. In vivo and in vitro studies have shown that ARNT2 is an obligate heterodimer for SIM1, known cause of monogenic obesity. Null mutations in Arnt2 in animals are not viable, but hypomorphic mutation results in hyperphagic obesity and its associated consequences (1). Due to the critical role of ARNT2 in the development of PVN, we hypothesize that hypomorphic mutations may result in early onset obesity in humans. Methods: The Genetics of Early Childhood Obesity (GECO) study recruits children with severe obesity (BMI > 120% of 95th percentile) of early onset (< 6 years). Whole exome sequencing (WES) was performed in a subset of proband-parent trios. The functional validation of the mutation(s) in ARNT2 is ongoing with co-transfection of tagged Arnt2 and Sim1 in HEK293 cells, with the induction of a luciferase reporter gene under the control of 6 repeats of bHLH-PAS core binding element by the Arnt2-Sim1 complex. Results: Two adolescents from unrelated families were found to have genetic variants in ARNT2. Subject 1 has a novel de novo heterozygous coding variant in ARNT2, c.388 C>G (p.P130A, CADD 25), predicted to be deleterious by 8/12 in silico algorithms. She is a 14-year old Caucasian girl with severe early onset obesity, BMI 28.1 kg/m2 (BMIz +4.72) at 2.5 years of age that has increased to 53.54 kg/m2 (BMIz + 3.25) at 14-years, and height > 95th %tile. She is non-dysmorphic, has developmental delay, absence seizures, behavior abnormalities & glucose intolerance/dyslipidemia secondary to obesity. Using genematcher, we identified another proband with the phenotype of obesity: an African American girl (BMIz +1.9) with biallelic inherited heterozygous variants in ARNT2, c.1228T>A (p.W410R, CADD 29) and c.916G>A (p.G306S, CADD 22). An only child conceived by IVF, she is non-dysmorphic and on treatment for bilateral focal epilepsy. All 3 variants are rare, with mean allele frequency < 0.005 in population-based databases such as gNOMAD. Both the patients have early onset obesity and a significant neurological phenotype. ARNT2 is a highly constrained gene of 717 amino acids with a significant depletion of missense variants in the N-terminus (1-244 aa) and overall fewer loss of function variants in ~282,644 alleles sequenced in gNOMAD. Conclusions: We propose that hypomorphic mutations in ARNT2 could be a potential novel cause of monogenic obesity in humans. Future studies will investigate the molecular mechanisms causing weight dysregulation in patient specific disease relevant hypothalamic neurons. Reference: (1) Turer et al., Dis Model Mech. 2018; 11(12)
Abstract Case report - Introduction Two cases of primary Sjögren’s syndrome presenting in a child with recurrent salivary gland enlargement are described. As a condition which rarely presents in childhood, these cases underline the need to consider more uncommon differentials in a child presenting with recurrent salivary gland swellings. They also highlight how well co-ordinated multidisciplinary care involving medical and dental specialist teams can achieve the best outcomes for patients. Case report - Case description Case 1: An 8-year-old girl presented to Paediatric Rheumatology with non-mealtime related episodes of bilateral parotid pain and swelling and intermittent dry mouth. Dry eyes and joint pain were not reported, and she was systemically well. Anti-Ro, anti-La and rheumatoid factor were positive. Salivary gland ultrasound showed evidence of sialadenitis. Sjögren’s Syndrome was diagnosed and treatment with hydroxychloroquine and azathioprine reduced the swelling frequency and severity. Regular optician reviews were arranged, and she was also noted to have ‘soft teeth’. Review by Paediatric Dentistry revealed her dry mouth had been managed with acidic sweets, leading to erosive tooth surface loss of the primary dentition. Onward referral was made to Oral Medicine and a differential diagnosis of chronic parotitis of childhood was considered. Ultrasound review by Oral and Maxillofacial Radiology confirmed Sjögren’s Syndrome. Yearly ultrasound scanning was arranged to assess for disease progression and lymphoma development. Case 2: A 17-year-old girl was referred to Oral Medicine with a diagnosis of Sjögren’s syndrome. She initially presented to Rheumatology 3 years previously with dry mouth, dry eyes, and intermittent bilateral swellings of the parotid and submandibular glands. The salivary gland swellings were associated with pain on eating and fatigue and improved with short courses of oral corticosteroids. Titres of anti-Ro60/52 antibodies were high, and a right parotid ultrasound guided biopsy showed a focus score of greater than 2 with changes consistent with Sjögren’s Syndrome. Hydroxychloroquine was initiated and the frequency and severity of the swellings improved. Referrals were made to Ophthalmology for a dry eye’s ocular assessment and retinal screening in view of hydroxychloroquine therapy. She regularly attended her dentist and managed her dry mouth with sugar free sweets. On review with Oral Medicine various non-acidic oral lubricants were recommended in addition to yearly ultrasound scanning. Case report - Discussion Sjögren’s syndrome is a multisystem autoimmune disease characterised by focal lymphocytic inflammatory infiltrates within the exocrine glands, predominantly the salivary and lacrimal glands. It is rarely diagnosed in children but should be considered when there is recurrent swelling of the salivary glands. There is a higher incidence of recurrent parotitis, but ocular and oral symptoms are less common in children. Therefore, the usual diagnostic criteria have a lower sensitivity for Sjögren’s syndrome in children compared with adults. The main differential was chronic parotitis of childhood; a poorly defined condition characterised by recurrent parotid inflammation that is generally associated with non-obstructive sialadenitis. It can present with recurrent, self-limiting episodes clinically resembling mumps and has a spectrum of symptoms varying from mild to incapacitating. There can be overlapping features between the two conditions, including similar ultrasonography changes and punctate sialectasis on sialography. However, most cases of chronic parotitis fully resolve over time without any long-term adverse impact, whereas Sjögren’s Syndrome is typically progressive. The risk of developing non-Hodgkin’s lymphoma in Sjögren’s is higher than the normal population. Therefore, patients should regularly undergo ultrasound surveillance, for example, by an Oral and Maxillofacial Radiologist. Immunosuppressant therapy may control symptoms and reduce lymphocytic infiltration and fibrosis of the salivary glands. However, there are no studies on systemic therapy for juvenile Sjögren’s and therefore management is based on that for adults. Hydroxychloroquine is widely used for reducing symptoms of fatigue and joint pain, whereas azathioprine is usually reserved for cases with systemic complications, such as lung disease. More recent studies evaluating the use of Rituximab, an anti-CD20 antibody have given mixed results, although it potentially could be considered in younger patients as long-term treatment with hydroxychloroquine or azathioprine carries an increased risk of side-effects. Case report - Key learning points Several medical and dental specialities were involved in the management of these unusual cases of Sjögren’s Syndrome presenting in childhood and adolescence to deliver high quality, coordinated care. This underlines the importance of a multidisciplinary approach to deliver holistic young adult/child-centred care. Multidisciplinary management of Sjögren’s syndrome should include a General Paediatrician, a Paediatric or general medical Rheumatologist, an Ophthalmologist and Oral Medicine specialist. Involvement of the General Dental Practitioner is also recommended to maintain a functional dentition from an early age. Although rare, Sjögren’s syndrome and recurrent parotitis of childhood should always be considered as differentials in a child with recurrent salivary gland swelling. A lower incidence of sicca complex symptoms can lead to difficulties in diagnosis; therefore, it is probable that Primary Sjögren’s syndrome is underdiagnosed in childhood. Regular ultrasound surveillance should be performed to monitor for non-Hodgkin’s lymphoma. Treatment is largely symptomatic; both patients were managed with hydroxychloroquine and the first was also taking azathioprine. Potentially treatment may continue for several years. Long-term use of hydroxychloroquine carries a dose-dependent risk of retinopathy and requires regular optician and ophthalmology reviews. Long term use of azathioprine carries potential risks of lymphoma, non-melanoma skin cancers and bone marrow suppression. Therefore, careful consideration needs to be given to the consent process to ensure there is shared decision making between the prescribing clinician, patient, and parent.
Objective To systematically map the patient journey and identify unmet needs in children with adenoid hypertrophy and their caregivers. Methods A qualitative study using in-depth interviews with 25 caregivers of children aged 3-9 years was conducted. Adenoid hypertrophy was confirmed by nasoendoscopy (≥70% obstruction) and/or polysomnography (OAHI >1 event/hour). Data were analyzed through reflexive thematic analysis to construct a comprehensive journey map. The emotional curve was derived qualitatively from caregiver narratives as a heuristic visualization of emotional trajectories across care stages, not as a quantitative measure. Results Analysis revealed two distinct emotional trajectories: surgical path caregivers experienced a post-discharge crisis due to support vacuum, while conservative path caregivers endured persistent anxiety from efficacy uncertainty. We identified both pathway-specific needs (post-discharge support, efficacy feedback) and cross-cutting needs (proactive information, holistic habit guidance). Conclusion This journey mapping provides an evidence-based framework for developing targeted interventions to inform caregiver education, discharge planning, follow-up strategies, and multidisciplinary care pathways, addressing critical system failures and enhancing patient-centered care in pediatric adenoid hypertrophy.
Background Combined allergic rhinitis and asthma syndrome (CARAS) is a prevalent chronic respiratory disorder among children, characterized by the coexistence of allergic rhinitis and asthma symptoms, thereby substantially impairing quality of life. Pediatric Tuina, a traditional Chinese manual therapy, has demonstrated potential in the management of pediatric respiratory conditions; however, its effectiveness in treating CARAS remains insufficiently studied. Objective This trial aims to assess the clinical efficacy and safety of pediatric Tuina in the treatment of CARAS, with the objective of establishing an effective, safe, and convenient external therapy of traditional Chinese medicine for CARAS. Methods A total of 92 children aged 6-14 years with CARAS in remission will be randomly assigned (1:1) to either the control group (conventional medication) or the intervention group (conventional medication plus pediatric Tuina). The intervention will be administered three times weekly for 4 weeks, followed by a 24-week follow-up. The primary outcome measure is the Pediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ) score. Secondary outcomes include the Childhood Asthma Control Test (C-ACT) / Asthma Control Test (ACT) score and traditional Chinese medicine (TCM) symptom scores. Safety will be assessed by monitoring any adverse events during the treatment period. Discussion This study will provide evidence for the efficacy and safety of pediatric Tuina in improving CARAS symptoms and quality of life in children. Clinical trial registration https://itmctr.ccebtcm.org.cn/mgt/project/view/1966089236985806848, identifier [ITMCTR2025001712].
