Pediatric Clinic Research Articles

Silent Effects of the COVID-19 Pandemic: Parental Attachment in Pediatric Patients.

The COVID-19 pandemic led to isolation measures intended to curb the spread of infection, which are believed to have negatively affected children's psychological well-being. This study examines the impact of the pandemic on parental attachment with children. A cross-sectional study was conducted with children visiting a general pediatrics clinic between April 1 and 20, 2023. Their COVID-19 infection history was recorded, and the Kern's Attachment Questionnaire was used to assess parental attachment in children who had contracted COVID-19 and those who had not. The study involved 716 patients aged 9-12, divided into two groups: those who had contracted COVID-19 (n=253) and those who had not (n=463). Kern's Attachment Questionnaire scores for mothers were 46.3 for children with COVID-19 and 49.4 for those without. For fathers, the scores were 43.9 and 48, respectively. Children who had contracted COVID-19 showed significantly lower attachment scores to both mothers and fathers compared to the control group (p=0.04, p=0.00). The pandemic's long-term biopsychosocial effects are evident, with increased stress and negative experiences posing risks to child development, particularly in terms of parental attachment. While early attachment begins in infancy, it continues to evolve. This study underscores the need for behavioral and psychological follow-up for adolescents in the post-pandemic period.

7366 Experience and perspectives of healthcare professionals regarding exercise directed guidance in pediatric type 1 diabetes

Abstract Disclosure: H. Reznik: None. A. Brener: None. F. Levy-Khademi: None. J. Yeshayahu: None. D. Pivko-Levy: None. I. Koren: None. O. Pinhas-Hamiel: None. M. Sharkia: None. L. Carmon: None. M. Rachmiel: None. M. Muller: None. L. de Vries: None. M. Cohen: None. Objective: Regular exercise can promote various aspects of health in pediatric type-1-diabetes (T1D). However, the management of exercise can be extremely challenging for the child, their family and the healthcare team involved. Studies suggest that children with T1D perform less than the recommended daily activity and that exercise does not always improve glycemic control. Multiple factors should be accounted for, including among others, the nature of the activity and individual child, as well as the treatment regimen. Proper guidance in preparation for exercise is crucial. We conducted a national study aimed at identifying strengths and limitations of exercise directed guidance (EDG) provided by staff in pediatric T1D clinics in Israel. Methods: Healthcare professionals from 8 pediatric diabetes clinics, including physicians, nurses and dietitians, were recruited. Participants completed an anonimized electronic questionnaire assessing: i) Demographics ii) Timing and content of the guidance provided to pediatric patients with T1D iii) Perceived challenges. Results: Ninety-nine professionals took part in this study, 53 physicians, 24 nurses and 23 dietitians. All reported providing EDG to pediatric T1D patients, 90 (90.9%) include EDG both during the initial post-diagnosis visits and periodically thereafter. However, while 83 (83.8%) reported offering guidance to all patients, 16 (16.1%) indicated guiding only specific children: either those that exercise, those that do not exercise or only those that asked for information. Only 64 (64.6%) reported to have specialized educational materials available in clinic, this varied even within the same clinic. The 3 most prevalent topics reported by participants as “usually included” in EDG, were: immediate effects on glucose (94.9%), adjusting carbohydrates (88.8%) and the equipment required during exercise (86.8%). The 3 least frequently addressed subjects were: addressing principals in planning exercise (28.2%) and involving family and friends (29.2% and 17.1% respectively). Challenges by order of prevalence were insufficient teaching aids, the complexity of the topic, lack of knowledge and insufficient time (reported by 44.4%, 39.4%, 34.3% and 34.3% respectively). The knowledge gap most commonly reported centered on understanding the impact of different types of exercise on blood glucose. Conclusions: Healthcare professionals recognize the importance of exercise in T1D management and all of them incorporate EDG in their routine practice. Interestingly, there is considerable variability in both timing and content of the EDG provided, even within the same clinic. We have identified important areas for improvement, with particular attention needed in increasing the availability of educational tools and enhancing staff knowledge. Our findings can assist in creating educational aids for both staff and patients. Presentation: 6/2/2024

8768 Initiation of Exogenous Sex Hormones in a Pediatric Gender Clinic

Abstract Disclosure: C.M. Roberts: None. M.M. Knoll: None. G. Robertson: None. A. Egan: None. C. Moser: None. Introduction: The demographics of patients seeking care for gender dysphoria have changed significantly since care was started in 1987. The criteria for prescribing sex hormones have also evolved to allow a greater range of patients to receive gender-affirming hormones. We examined factors associated with prescription of gender-affirming hormones to patients presenting for gender-affirming care our clinic. Methods: Secondary analysis of sex hormone initiation as a minor among 14-17-year-old adolescents diagnosed with gender dysphoria, seen in the pediatric gender clinic between 2/19/2018 and 7/20/2022. We extracted demographic variables, appointment dates, and sex hormone prescription data from our electronic medical record. We collected patient reports of gender identity and suicidal behavior, and parent and adolescent reports of general adolescent well-being, months of gender dysphoria and social transition, and parental support for the adolescent’s gender identity from electronic clinic surveys. Results: We identified 273 adolescent-parent dyads with complete data. Most of our sample were assigned female at birth (74.4%), transgender male (59.3%), and white (83.5%) adolescents who lived in urban (86.4%) and lower-middle-income (64.5%) areas. The average age was 15.9+/-1.1 years. A minority of adolescents reported recent suicidal ideation 60/273 (22%), and prior suicide attempts 20/273 (7%). Parents reported a shorter duration of gender dysphoria (-16.7 months (95%CI: -22.0, -11.5)) and social transition (-4.7: -6.5, -3.0), and higher levels of parental support than adolescents. Approximately half, 146/273 (53.5%), of adolescents started sex hormones. The average age at initiation was 16.5 years +/- 0.9. Age at presentation, length of gender dysphoria or social transition, and the presence of suicidal ideation or attempts were not associated with initiation of sex hormones. Assigned males (OR:1.82:95%CI 1.04, 3.19), adolescents with higher parent-reported parental support for the adolescent’s identity (1.03:1.01, 1.04), and adolescents with private insurance rather than Medicaid (Blue Cross- 5.39:2.73, 10.64) were more likely to start sex hormones as a minor. Conclusion: Published criteria for the initiation of sex hormones among adolescents with gender dysphoria, including age, persistence of dysphoria, and the presence of suicidality, did not predict the prescription of sex hormones to minors in our clinic. Parent-reported support for the adolescent’s gender identity played a small role in predicting the prescription of hormones, but male sex assigned at birth and having private health insurance played larger roles. Further exploration of these findings is needed to ensure equity in the treatment of gender dysphoria. Presentation: 6/3/2024

7345 Study on the correlation between the levels of myokines and metabolic abnormality in obese children

Abstract Disclosure: L. Ouyang: None. M. Li: None. F. Yang: None. Objective: There are limited drug options to treat childhood obesity. Studies have found that myokines play an important role in the mechanism of exercise in the treatment of obesity. However, the correlation between myokines and metabolic abnormalities in obese children is still unclear. The purpose of this study is to analyze the correlation between the levels of myokines and metabolic abnormalities in obese children to provide the basis for the future application of myokines in childhood obesity. Methods: 41 obese children who visited the pediatric clinic of our hospital from March to October 2022 were enrolled, and 11 healthy non-obese children who had a regular physical examination in the pediatric clinic during the same period were enrolled. Basic information, anthropological indicators and biochemical indicators were collected. Human myokine magnetic bead panel was used to detect serum myokine levels including irisin, FGF21, BDNF, LIF, MSTN, IL 6, and IL 15. Difference analysis, rank sum test and Spearman analysis were used to conduct the correlation between the levels of myokines and metabolic abnormalities in obese children. Results: We found that the BMI-SDS and body fat rate of obese children with abnormal metabolism was higher than those with normal metabolism status(p<0.05). Children with abnormal glucose metabolism had an increased risk of abnormal lipid metabolism and hyperuricemia(p < 0.05), and children with abnormal lipid metabolism had an increased risk of hyperuricemia and hypertension(p<0.05). The obese children with abnormal glucose and lipid metabolism had an increased risk of abnormal purine metabolism. The levels of leukemia inhibitory factor and brain-derived neurotrophic factor in obese children were significantly higher than those in non-obese children (p<0.05), and the level of fibroblast growth factor 21 in obese children with abnormal metabolism was significantly higher than that in children with normal metabolism (p<0.05), respectively. There was a significant positive correlation between BMI-SDS and the levels of irisin, leukemia inhibitory factor and brain-derived neurotrophic factor (r=0.361, 0.368, 0.343, p=0.009, 0.007, 0.013, respectively). There was a significant positive correlation between irisin, BDNF, LIF, MSTN and IL 6, and between FGF21 and irisin, MSTN, IL 6 in children (p < 0.05). Conclusions: With the increase in BMI, the risk of metabolic abnormalities in obese children increases. Obese children with one kind of metabolic abnormality are prone to merge with other metabolic abnormalities. The levels of leukemia inhibitory factor, fibroblast growth factor 21, irisin, brain-derived neurotrophic factor, and other myokine in obese children and obese children with abnormal metabolism are different from those in non-obese children and obese children with normal metabolism respectively, and there is interaction between myokines. Presentation: 6/1/2024

8401 Genetic Characterization of a Case of Primary Aldosteronism in an 11-Year-Old Girl carrying a Germline VUS of CACNA1H and a Somatic Mutation of CTNNB1

Abstract Disclosure: S. Parisien-La Salle: None. G. Van Vliet: None. G. Corbeil: None. M. Labrecque: None. M. Tétreault: None. I. Bourdeau: None. Introduction: Primary aldosteronism is a frequent cause of secondary hypertension in adults but is rare in children. We report the case and genetic studies of an 11 yo girl presenting with primary aldosteronism at puberty. Case presentation: An 11-year-old female patient was referred to the pediatric endocrinology clinic for hypertension (166/118). Her past medical history and family history were unremarkable. She reported polyuria, polydipsia and occasional headaches and abdominal pain. Her Tanner stage indicated that puberty was initiated (P2M2). An abdominal CT revealed a 9x10x11cm right adrenal mass with calcifications and a necrotic zone. On [1]8F-FDG PET/CT, the mass had an uptake of 2.9 SUVmax. Laboratory results revealed hypokalemia (K: 2.6 mmol/L [N: 3.5-4.5]) and elevated aldosterone (1712.8 pmol/L [N: 110-1330]) with suppressed renin (0.2 ng/ml/h [N: <5.3]). Her urinary aldosterone level was elevated (114 nmol/day [N: <67]). The rest of the biochemical adrenal panel was normal. Patient underwent a right adrenalectomy by laparotomy. The pathology report showed an adrenal tumor without capsular or vascular invasion. The only malignancy criterion was an area of necrosis and the ki-67% proliferation index was < 1%. Genetic investigations: After informed consent, the patient underwent germline analysis for the chimeric gene CYP11B2/CYP11B1 (Ruhr University Bochum, Germany) and a multigene panel including KCNJ5, CACNA1D, CACNA1H and CLCN2 genes (Fulgent, CA), which were both negative except for a variant of unknown significance (VUS) that was identified in CACNA1H (c.3868G>A, p.Val1290Ile) with a minor allele frequency of 3.291E-5 (GnomAD). Tumor DNA was extracted after adrenalectomy from fresh frozen tissues. Somatic genetic analysis of GNAS, CTNNB1, KCNJ5, ATP1A1, ATP2B3 and CACNA1D was performed using direct Sanger Sequencing (Genome Quebec Innovation Centre) and revealed a heterozygous missence pathogenic variant in the CTNNB1 gene (c.121 A>G p.Thr41Ala). This mutation was absent in leukocyte DNA of the patient. Immunohistochemistry of the adrenal tumor disclosed strong cytoplasmic β-catenin staining in most tumor cells (monoclonal anti-β-catenin antibody; BD Transduction Laboratories). RNA-sequencing of patient tumor RNA was performed (Research Center CHU Québec) and compared to human adrenal total RNA (Clontech, Mountain View, CA). Pathway enrichment analysis showed activation of the Wnt signaling pathway. No variant was identified in GNAQ or GNA11 genes. However, GNRHR was upregulated compared to the control sample with a log2 fold change of 3.96 (p=0.000074). Conclusion: We present a rare pediatric case of an aldosterone producing adenoma harbouring a somatic β-catenin pathogenic variant with upregulation of GNRHR. The implication of the germline CACNA1H VUS still needs to be clarified. Presentation: 6/3/2024

6480 Variability in Breast Development in Response to Exogenous Estrogen in Girls

Abstract Disclosure: T.M. Kurman: None. E.A. Eugster: None. Intro: Adolescents requiring treatment with exogenous estrogen (E2) include girls with primary and secondary hypogonadism and transfeminine youth. While 17B-estradiol is standard of care, the starting dose and escalation schedule are individualized. To what degree the response to E2 as assessed by breast Tanner stage is correlated with the dose is unknown. Similarly, whether the response to E2 varies depending on the underlying diagnosis has not been systematically analyzed. We aimed to investigate relationships between diagnosis, E2 dose, and breast Tanner staging in adolescent girls. Methods: We conducted a chart review of girls treated with E2 followed at our Pediatric Endocrine clinic between 2008-2022. Inclusion criteria included girls who were prepubertal at baseline and on a single increment of a 25 mcg E2 patch changed 2X/week from initiation of treatment to the first follow up visit. Only transgender girls being treated with a GnRH analog were included. Within each group of patients on the same starting dose, a Kruskal-Wallis test was conducted to evaluate differences in Tanner stage between diagnostic groups. Spearman’s correlation was used to evaluate the relationship between starting dose and Tanner stage. Finally, we evaluated differences within the Turner syndrome (TS) group for girls with monosomy X vs a mosaic karyotype. Results: Of 1,899 medical records, 70 eligible patients were identified. Of these, 33 (47.2%) had TS, 17 (24.3%) had primary ovarian insufficiency (POI), 15 (21.4%) had hypogonadotropic hypogonadism (HH), and 5 (7.1%) were transgender (TG). Twenty-three (32.9%) started on 1/4 patch (6.25 mcg), 29 (41.4%) on 1/2 patch (12.5 mcg) and 18 (25.7%) on a full patch (25 mcg). Girls on other regimens (e.g., 1/8 patch worn only at night) were excluded from analysis. The first f/u visit occurred at a median of 6 months (range 3-12 months). All TG girls were started on 25 mcg E2, which was significantly different compared to the other groups (p=0.002, p=0.005, and p=0.005 for TS, POI, and HH respectively). Breast Tanner stage at the first f/u visit ranged from 1-4 with no significant difference within each dose group based on diagnosis. However, a significant correlation between E2 dose and breast Tanner stage at f/u was seen in girls with HH (r=0.601, p=0.018). No effect of karyotype (monosomy X vs mosaic) on response to E2 in girls with TS was seen. Conclusion: There was striking variability in the starting dose of E2 in the vast majority of patients, highlighting the lack of standardization in clinical management. Interestingly, we found significant individual variability in terms of breast development in response to the initial dose of E2, regardless of diagnosis. Factors responsible for the unpredictable nature of the response to exogenous E2 are unexplored. Our findings provide important and novel prognostic information for patients and providers. Presentation: 6/1/2024

7534 Characterizing The Presentation Of Non-Classical Congenital Adrenal Hyperplasia

Abstract Disclosure: S. Patel: None. M. Skamagas: None. A.C. Levine: None. M. Yau: None. Introduction: 21-hydroxylase deficiency, due to CYP21A2 gene mutations, is the most common steroidogenic enzymatic defect causing congenital adrenal hyperplasia (CAH). Disease severity is categorized into the classical and milder, non-classical (NCAH) form. Many patients go undiagnosed due to variable presentation and delayed onset. We aim to investigate the specific presenting concerns, age of onset, and genotypes associated with NCAH. Methods: A retrospective chart review of 285 patients with CAH seen over the past 2 years at our academic pediatric and adult endocrine clinics was performed. Records were reviewed for presenting concerns and age of symptom onset. CYP21A2 gene analysis was performed commercially via multiplex ligation-dependent probe amplification or next generation sequencing. Results: Of the 165 patients classified with NCAH, genotypes were available for 124 patients. Of the patients with a V281L allele, 43 were homozygous and 49 were heterozygous. 7 patients had the P30L allele and 7 had other allele combinations. The overall most common presenting concerns were early pubarche (29%), hirsutism (28%), and irregular menses (26%). In V281L homozygotes, family history most commonly led to diagnosis (30%). In patients with V281L heterozygosity or the P30L allele, the predominant concern was early pubarche (37% and 43% respectively). 15% of patients were screened prenatally or only due to family history and were asymptomatic at diagnosis. Patients’ age at diagnosis ranged from 0-40 years, with the mean age at diagnosis for the total group being 13.3 ± 8.9 years. Mean age of onset in symptomatic V281L homozygotes (15.4 ± 7.9 years) trended toward an older age compared to symptomatic V281L heterozygotes (15.1 ± 10.5 years) (P value = 0.90). Those who were heterozygous for V281L/P30L or undetermined whether homozygous for V281L or heterozygous with a deletion were excluded from age of onset comparisons. Discussion: The mean age of symptom onset was in adolescence and did not differ significantly between V281L homozygotes and heterozygotes. Early pubarche is a frequent presenting symptom in children with NCAH, and our data support this finding. P30L has been associated with a more severe phenotype than V281L, and in our cohort, the only patient presenting in adrenal crisis had a genotype with a P30L mutation. As NCAH is one of the most common autosomal recessive disorders in humans and there is an allelic predominance of V281L in NCAH patients, it is not surprising that a large percentage of V281L homozygotes were diagnosed due to family history prior to developing symptoms. Such patients need to be followed clinically and our data describing symptom onset could be useful in counseling these families and those with prenatal diagnoses. Presentation: 6/1/2024

Knowledge and perception of asthma among parents of children with asthma.

Parents' knowledge is an integral part of healthcare quality, impacting treatment adherence, patient loyalty and healthcare utilisation in pediatric asthma. Parental knowledge is particularly crucial as parents influence decision-making for their child's healthcare. To assess parents' knowledge and perceptions of their children's asthma and to identify areas for weakness in therapeutic education. This is transversal survey study based on validated and translated self-administered questionnaire (Arabic asthma knowledge questionnaire AAKQ). The study was conducted in 2 departments: pediatric primary care department at Elomrane and pediatric pneumology outpatient clinics at Bechir Hamza children's hospital of Tunis during 6 months (March2022- October2022). One hundred forty-four parents were involved in the study. Most of the participants were mothers. The mean age was 38 years. Only 27,0% had higher education and smoking in parents was observed in 58% of cases. Our results showed moderate knowledge in 67,9% of participants. The mean of the total knowledge score was 57,7/85. Forty-six per cent of parents had poor knowledge for the first category of the questionnaire. The second category was the most successful part where only 14% had poor knowledge. The mean score of the third category was 13,5/20 with 35,4% of parents having poor knowledge. The mean of total knowledge was found to be higher among participants with higher education (P=0,000), when the gender of the child is masculine (P=0,038), when the parents were asked in Hospital of children of Tunis (P=0,003) and when there is a history of asthma in the siblings (P=0,05). No difference in caregiver's knowledge was based on their age or gender or history of asthma, on the age of the child, his hospitalization for asthma, his asthma control level or his compliance with medication. Knowledge of parents and their children suffering from asthma is acceptable but insufficient. An approach focusing on improving patient education skills is needed to help families understand and accept the disease and achieve optimal control.

7063 Serum Alkaline Phosphatase Level as a Marker for Progressive Central Precocious Puberty

Abstract Disclosure: V.M. Figueredo: None. T. Seeherunvong: None. Background: Precocious puberty is typically associated with a speed up in growth, risk of premature growth plate closure and reduced adult height. Serum alkaline phosphatase (ALP) is a biochemical indicator of bone turnover and studies have shown greater serum ALP levels in pubertal individuals compared to prepubertal controls. We examined serum ALP levels among children with various form of early puberty. We investigated whether serum ALP levels were significantly different between children with premature thelarche or premature adrenarche compared to those with central precocious puberty (CPP). Methods: We conducted a retrospective chart review of patients with early pubertal development attending a pediatric endocrinology clinic between 2017 and 2023. Information on height, weight, serum ALP levels and bone age was obtained. Patients were considered to have CPP based on the results on a GnRH test. Patients with diagnosis of premature adrenarche or premature thelarche were included as controls. This study was approved by Institutional Review Board (IRB). Analysis of data was performed using IBM SPSS Statistics version 29.0.1.0 (171). Results: Among 72 patients included in the study, 22 patients had progressive CPP whereas 50 patients had premature adrenarche or premature thelarche. The prevalence of abnormally elevated serum ALP levels was greater among patients with CPP (22.7%) than among patients with premature adrenarche or premature thelarche (6%). Using logistic binomial regression analysis, serum ALP levels were significantly elevated (p=0.042) in subjects with progressive CPP compared to patients with premature adrenarche or premature thelarche. Both groups had similar BMI values. BMI z-scores and advanced bone age were positively correlated. BMI (p=0.08) and advanced bone age were not significantly different (p=0.12) in the group with CPP compared with the group comprising patients with either premature adrenarche or premature thelarche. Conclusion: These findings suggest that serum ALP levels are helpful as a tool to help distinguish CPP from premature adrenarche or premature thelarche in the evaluation of patients with initial early pubertal development. Presentation: 6/1/2024

8137 Prevalence Of Overweight And Obesity In Dominican Children With Congenital Heart Disease

Abstract Disclosure: L.D. Rojas Rodríguez: None. M.J. Mateo Pérez: None. L.C. López Sención: None. V.T. San Martin: None. A. Grullón: None. Background: Overweight and obesity can be detrimental to the health of children with congenital heart disease, potentially leading to or contributing to other chronic medical conditions such as hypertension. This, in turn, may increase the cardiovascular demands of these patients whose lives are already affected by a defective heart anatomy. Objective: To determine the prevalence of overweight and obesity in Dominican children with congenital heart disease. Methods: An observational cross-sectional study was conducted to determine the prevalence of overweight and obesity in children with congenital heart disease attending the Pediatric Cardiology Department at Children's Hospital (Santo Domingo, Dominican Republic), from July to December 2022. The study population was classified into categories of underweight, normal weight, overweight or obesity using the CDC Body Mass Index-for-age growth chart (2022), based on their age, weight, height, and sex. The parents of the patients were interviewed to gather information about their children’s medical history, as well as their diet type and level of physical activity. Diet type was assessed through a questionnaire about daily meals; diets in which processed foods and simple carbohydrates were predominant were categorized as unhealthy, while those with a predominance of proteins and complex carbohydrates were categorized as healthy. Physical activity levels were measured using the Assessment of Physical Activity Level Questionnaire (APALQ). Additionally, blood pressure values were categorized as normal or elevated/high based on the American Academy of Pediatrics Clinical Practice Guidelines for Screening and Management of High Blood Pressure in Children and Adolescents (2017). Results: A total of 84 patients with congenital heart disease were analyzed, with 11.9% (10/84) categorized as having overweight and 23.8% (20/84) categorized as having obesity. Among patients with overweight or obesity, unhealthy eating habits predominated in 66.7% (20/30), while a sedentary level of physical activity was reported in 56.7% (17/30). Additionally, among patients with overweight or obesity, 36.7% (11/30) had elevated/high blood pressure. Conclusion: About one-third of Dominican patients with congenital heart disease were found to have overweight or obesity. Additionally, about one-third of those with excess weight were found to have elevated/high blood pressure. These findings stress the need for urgent implementation of personalized interventions and educational programs focused on fostering healthier lifestyles. The ultimate goal is to reduce cardiovascular risks and improve the overall well-being of children living with congenital heart disease. Presentation: 6/1/2024

Implementation and analysis of clinic administered behavioural health screen in an outpatient paediatric cardiology clinic.

Previous studies investigating behavioural health screening processes have focused on selected diagnoses within paediatric cardiology and focused on a smaller number of potential concerns. We developed and administered a brief survey in our paediatric heart centre to assess the presence of a wider variety of behavioural health concerns and to connect patients with resources. A cohort of 305 patients aged 2-29 years (M = 11.97 years; SD = 6.00 years; 50.49% female), representing a variety of indications for a cardiology clinic visit, or a parent, completed a survey of 14 common behavioural health concerns. Behavioural health concerns were included based on practice patterns within paediatric psychology. Respondents indicated if they were currently receiving behavioural health services and if they were interested in behavioural health follow-up. Surveys were administered during check in and collected by clinic staff. A behavioural health provider attempted to reach all those who indicated interest by phone. Approximately 45% of the sample endorsed one or more behavioural health concerns and 30.16% of the sample endorsed at least one concern but were not already connected to services. Only 27.17% of this group requested follow-up. Most commonly endorsed concerns were anxiety, sleep problems, depressed/irritable mood, and somatic complaints. Survey results converge with existing literature to indicate that behavioural health concerns are common among youth seen in a paediatric cardiology clinic but most patients are not connected to appropriate services. Screening programmes can help meet this need but challenges remain. Clinical implications and future directions are discussed.

Investigating the Impact of Caregiver Adverse Childhood Experiences Screening and Pediatrician-Led Discussions on Posttraumatic Stress Disorder Symptoms in a Majority-Hispanic Pediatric Primary Care Clinic Setting

Background: Evidence suggests that screening and provider-led discussions of parental adverse childhood experiences (ACEs) may help identify at-risk families and be linked to positive health outcomes in caregivers and their children. However, the direct effect of ACEs screening and discussions on posttraumatic stress disorder (PTSD) has yet to be studied. Objectives: To determine if screening or provider-led discussions of parental ACEs are associated with inadvertent worsening of PTSD symptoms 1 week after screening. Research Design: Data was obtained as part of a cluster randomized controlled trial to examine the effects of ACEs screening and provider-led discussions on child health care utilization outcomes. Baseline surveys were completed before scheduled infant well child checks (WCCs). Providers were randomized into the standard of care or intervention (discussion) conditions. Intervention providers were trained in delivering brief trauma-informed discussions about the impact of ACEs on parenting during WCCs. Subjects: Caregivers in a pediatric primary care clinic serving predominantly Hispanic and low socioeconomically resourced families (N=179, 93% female, 87% Hispanic). Measures: The Primary Care PTSD Screen for DSM-5 (PC-PTSD-5), Brief Resilience Scale (BRS), and ACEs screening were completed at baseline. PC-PTSD-5 was repeated 1-week after screening. Results: Mixed-effects ordinal logistic regression analysis of PTSD scores from baseline to 1-week postscreening with the full sample showed no significant effect of time [odds ratio (OR)=1.21, P=0.68], group (OR=1.68, P=0.33), or their interaction (OR=0.48, P=0.21). Conclusions: Screening or brief discussion of ACEs with providers trained in trauma-informed care were not associated with worsening PTSD symptoms.

Retrospective Cohort Study Demonstrates Tolerance and Adherence to Pea-Based Complete Enteral Formula When Transitioned from a Previous Hypoallergenic Product.

Plant-based formulas have become increasingly popular due to their health benefits, environmental concerns, cultural beliefs, improved palatability, and decreased cost. A retrospective chart review of medically stable children transitioning from a hypoallergenic formula to a yellow pea protein plant-based formula (PPPBF) was included. This study aimed to assess gastrointestinal tolerance, weight changes, and adherence to receiving a unique PPPBF. Healthcare providers (HCPs) from pediatric clinics across the United States who requested increased PPPBF samples between the dates of 1 November 2021and 31 January 2022 and again from 1 February 2022 to 15 April 2022 inputted survey data. The HCPs selected participants based on the inclusion criteria. Seventy-three completed patient surveys were included of children (ages 1-18 years old, 41% females, 59% males). After the transition to PPPBF, 38.4% experienced improvement in GI tolerance, 56.2% experienced no change, and 5.5% reported worsening GI tolerance. There was a 95% adherence rate, and 98.9% reported no adverse reactions or allergic manifestations after formula transition. Transitioning from a hypoallergenic formula to a PPPBF showed a trend toward stable GI tolerance, weight gain or stability, and adherence. A PPPBF offers a first-choice option for children who are on hypoallergenic formulas due to intolerance.

Mental health among parents and their children with eczema in Hong Kong.

This cross-sectional survey research investigated mental health symptoms and quality of life among Chinese parents and their children with eczema at a paediatric dermatology clinic in Hong Kong from November 2018 to October 2020. Health-related quality of life, eczema severity, and mental health among children with eczema, as well as their parents' mental health, were studied using the Children's Dermatology Life Quality Index (CDLQI), Infants' Dermatitis Quality of Life Index (IDQOL), Nottingham Eczema Severity Score (NESS), Patient-Oriented Eczema Measure (POEM), and the Chinese version of the 21-item Depression, Anxiety, and Stress Scales (DASS-21). In total, 432 children and 380 parents were recruited. Eczema severity (NESS and POEM) and health-related quality of life (CDLQI) were significantly positively associated with parental and child depression, anxiety, and stress levels according to the DASS-21, regardless of sex (children: r=0.28- 0.72, P<0.001 to 0.007; parents: r=0.20-0.52, P<0.001 to 0.034). Maternal depression was marginally positively associated with increased anxiety in boys with eczema (r=0.311; P=0.045). Younger parents had higher risk of developing more anxiety and stress compared with the older parents (adjusted odds ratio [aOR]=-0.342, P=0.014 and aOR=-0.395, P=0.019, respectively). Depression level of parents with primary to secondary education was 58% higher than their counterparts with post-secondary education or above (aOR=-1.579; P=0.007). Depression, anxiety, and stress among children with eczema and their parents were associated with eczema severity and impaired quality of life in those children. These findings regarding impaired mental health in children with eczema and their parents highlight the need to include mental well-being and psychosocial outcomes in future studies and clinical practice.

Comparison of Telemedicine Usage at Two Distinct Medicaid-Focused Pediatric Clinics.

Objective: To compare telemedicine versus office visit use at two Medicaid-focused pediatric primary care clinics. Methods: Retrospective cohort study from March 15, 2020 - March 15, 2021 at two Medicaid-focused pediatric primary care clinics. Site A and Site B care for different populations (Site B care for mostly immigrant families with preferred language Spanish). Outcomes included the percent of visits conducted through telemedicine and reason for visit. Descriptive statistics, univariable and multivariable mixed multilevel logistic regression, were used to assess relationship between patient demographics and telemedicine use. Results: Out of 17,142 total visits, 13% of encounters at Site A (n = 987) and 25% of encounters at Site B (n = 2,421) were conducted using telemedicine. Around 13.8% of well-child care (n = 1,515/10,997), 36.2% of mental health care (n = 572/1,581), and 25.0% of acute care/follow-up (n = 1,893/7,562) were telemedicine visits. After adjustment for covariates, there was no difference in odds of a patient having any telemedicine use by preferred language, sex, or payor. Patients 1-4 years of age had the lowest odds of telemedicine use. At Site A, patients who identified as Non-Hispanic Black (odds ratio [OR] = 0.33, 95% confidence interval [CI] = 0.24-0.45), Hispanic/Latinx (OR = 0.40, 95% CI = 0.24-0.66), or other race/ethnicity (OR = 0.35, 95% CI = 0.23-0.55) had lower odds of telemedicine use in comparison to Non-Hispanic White. Conclusions: Telemedicine was successfully accessed by Medicaid enrollees for different types of pediatric primary care. There was no difference in telemedicine use by preferred language and payor. However, differences existed by age at both sites and by race/ethnicity at one site. Future research should explore operational factors that improve telemedicine access for marginalized groups.

Improving routine mental health screening for depression and anxiety in a paediatric lupus clinic: a quality improvement initiative for enhanced mental healthcare

BackgroundMental health (MH) conditions are prevalent in adolescents with childhood-onset SLE (cSLE). Early identification is crucial in preventing poor patient outcomes; however, MH screening rates remain low.Local problemFrom July 2021–January...

Calvarial Thickening in Tuberous Sclerosis Complex

IntroductionTuberous sclerosis complex (TSC)-related skeletal abnormalities are under-studied. Awareness of skull thickening in TSC patient is important from the surgical standpoint because thick skull might complicate craniotomy. This study, aimed at revealing if TSC patients are generally prone to skull thickening, had led us to retrospectively investigate the frequency and characteristics of skull thickening in these patients. MethodTSC patients aged 10 to 60 years who underwent MRI were identified from the neurosurgery, dermatology or pediatrics clinic between 2010 and 2021. Two control groups were used for comparison: one with unruptured intracranial aneurysms to serve as control without anti-seizure medications (ASMs) exposure and another with non-TSC epilepsy as control with ASM exposure. Thickness of frontal, parietal, temporal, and occipital bones was measured at a fixed location of each bone across patients on T2-weighted axial images. Result29 patients fulfilled the inclusion criteria. Frontal and temporal bones of the TSC group were significantly thicker than those of either control group. Skull thickening was significantly associated with intracerebral calcification, but not with age, sex, or ASM exposure. Focal skull thickening was associated with the presence of a subcortical calcification. ConclusionsTSC patients have thickened skull that is often linked to intracerebral calcification. The presence of skull thickening may require modification of surgical approach during craniotomy. Skull thickening and the underlying intracerebral calcification likely share a common precipitating factor given their relationship. Future studies are warranted to clarify the genetic underpinnings of this relationship and even broader skeletal abnormalities in TSC.

Single-Center Experience in Establishing a Pediatric Kidney Genetics Clinic

Single-Center Experience in Establishing a Pediatric Kidney Genetics Clinic

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.

Neonatal diabetes mellitus (NDM) is a rare non-immunological monogenic disorder characterized by hyperglycemic conditions primarily occurring within the first 6 months of life. The majority of cases are attributed to pathogenic variants in genes affecting beta-cell survival, insulin regulation, and secretion. This study aims to investigate the genetic landscape of NDM in Iran. We recruited a total of 135 patients who were initially diagnosed with diabetes at <12 months of age in Iran and referred to pediatric endocrinology clinics across the country. These patients underwent genetic diagnostic tests conducted by the Exeter Molecular Genetics Laboratory in the UK. The pathogenic variants identified were sorted and described based on type, pathogenicity (according to ACMG/AMP criteria), novelty, and the affected protein domain. Genetic defects were identified in 93 probands, presenting various pathogenic abnormalities associated with NDM and its associated syndromes. 76% of the patients were born as a result of consanguineous marriage, and a familial history of diabetes was found in 43% of the cases. A total of 58 distinct variants in 14 different genes were discovered, including 20 variants reported for the first time. Causative variants were most frequently identified in EIF2AK3, KCNJ11, and ABCC8, respectively. Notably, EIF2AK3 and ABCC8 exhibited the highest number of novel variants. These findings provide valuable insights into the genetic landscape of NDM in the Iranian population and contribute to the knowledge of novel pathogenic variants within known causative genes.

Knowledge, attitude and practice for a group of Egyptian interns about infection control in different pediatric dental clinics: a cross-sectional study

Knowledge, attitude and practice for a group of Egyptian interns about infection control in different pediatric dental clinics: a cross-sectional study