Short-term effectiveness and side effects of ketogenic diet for drug-resistant epilepsy in children with genetic epilepsy syndromes.

Background: Drug-resistant epilepsy (DRE) impacts a significant portion, one-third, of individuals diagnosed with epilepsy. In such cases, exploring non-pharmacological interventions are crucial, with the ketogenic diet (KD) standing out as a valuable option. KD, a high-fat and low-carb dietary approach with roots dating back to the 1920s for managing DRE, triggers the formation of ketone bodies and modifies biochemistry to aid in seizure control. Recent studies have increasingly supported the efficacy of KD in addressing DRE, showcasing positive outcomes. Furthermore, while more research is needed, limited data suggests that KD May also be beneficial for specific genetic epilepsy syndromes (GESs). Objective: This study aimed to assess the short-term efficacy of KD among pediatric patients diagnosed with GESs. Materials and methods: This is a multi-center retrospective analysis of pediatric patients with GESs diagnosed using next-generation sequencing. The enrolled patients followed the keto-clinic protocol, and the KD efficacy was evaluated at 3, 6, and 12-month intervals based on seizure control and compliance. The collection instrument included demographic, baseline, and prognostic data. The collected data was coded and analyzed promptly. Results: We enrolled a cohort of 77 patients with a mean current age of 7.94 ± 3.83 years. The mean age of seizure onset was 15.5 months. Notably, patients experienced seizures at a younger age tended to have less positive response to diet. Overall, 55 patients responded favorably to the diet (71.4%) while 22 patients (28.6%) showed no improvement. Patients with genetic etiology showed a significantly more favorable responses to the dietary intervention. Patients with Lennox-Gastaut syndrome showed the most significant improvement (14/15) followed by patients with Dravet syndrome (6/8), and West syndrome (3/4). The number of used anti-seizure medications also played a significant role in determining their response to the diet. While some patients experienced mild adverse events, the most common being constipation, these occurrences were not serious enough to necessitate discontinuation of the diet. Conclusion: The study revealed a high improvement rate in seizure control, especially among younger patients and those with later seizure onset. The success of dietary treatment hinges greatly on early intervention and the patient's age. Certain genetic mutations responded favorably to the KD, while efficacy varied among various genetic profiles.

Correlation between Bronchopulmonary Dysplasia and Cerebral Palsy in Children: A Comprehensive Analysis Using the National Inpatient Sample Dataset.

Background: The existing literature lacks conclusive evidence regarding the relationship between bronchopulmonary dysplasia (BPD) and cerebral palsy (CP). This large epidemiological study aimed to explore the co-occurrence of BPD and CP among children. Methods: This retrospective cohort analysis utilized the National Inpatient Sample (NIS) dataset from 2016 to 2019, investigating pediatric patients with BPD and CP diagnoses. Descriptive and inferential statistics, including univariate and multivariate regression analyses, were conducted to explore the association between BPD and CP. Results: Overall, 3,951,039 patients were analyzed. Among them, 28,880 patients had CP (n = 796 with BPD and n = 28,084 without BPD). The rates of intraventricular hemorrhage grade 3 and 4, central nervous system anomalies, chromosomal disorders, retinopathy of prematurity (≥grade 3), periventricular leukomalacia, prematurity, and low birth weight were significantly higher in the CP-with-BPD arm contrasted to the CP-without-BPD arm. Univariate regression demonstrated a significant BPD-CP association (odds ratio [OR] = 7.78, 95% confidence interval [CI]: 7.24-8.37, p < 0.0001). Multivariate analysis, adjusting for various confounders, reinforced this association (OR = 5.70, 95% CI: 5.17-6.28, p < 0.0001). We observed a significant association between increasing prematurity in neonates with BPD and an elevated risk of CP. Conclusions: This nationwide study identified a strong correlation between the co-occurrence of BPD and CP, though it does not establish causality. Rigorous adjustments revealed that patients with BPD appear to have a six-fold increased likelihood of being diagnosed with CP later on, compared to those without BPD. While aligned with the existing literature, this study represents the largest sample size with recommendations for targeted preventive strategies to mitigate the burden of CP.

Exploring the Relationship between Cerebral Palsy and Hip Dysplasia: Insights from the National Inpatient Sample.

Background and Objective: Cerebral palsy (CP) significantly impacts quality of life globally. Hip dysplasia (HD) is a common musculoskeletal issue in CP patients. This study investigates the prevalence, risk factors, and impact of HD on CP patients using a large national database. Materials and Methods: Data from the National Inpatient Sample (NIS) database (2016-2019) were used, identifying CP and HD diagnoses through ICD-10 codes. Baseline characteristics were tabulated. Univariate and multivariate logistic regression analyses examined predictors of HD development in CP patients, presenting data as odds ratios (ORs) with 95% confidence intervals (CIs). Results: Among 3,951,040 pediatric patients, 28,880 had CP (27,466 without HD, and 1414 with HD), and 3,922,160 did not have CP. CP significantly increased the likelihood of developing HD in univariate (OR = 35.03, 95% CI [33.01, 37.17], p < 0.0001) and multivariate (OR = 26.61, 95% CI [24.94, 28.40], p < 0.0001) analyses. Among patients with CP, race was significantly associated with HD, with ORs below 1 for all racial categories compared to Whites. Females had nearly twice the odds of HD compared to males (OR = 1.96, 95% CI [1.86, 2.05], p < 0.0001). Age was significantly associated with HD, with each additional year increasing the odds (OR = 1.03, 95% CI [1.026, 1.034], p < 0.0001). Individuals in the high 51st-75th income quartile had a 17% increase in the odds of HD (OR = 1.17, 95% CI [1.09, 1.25], p < 0.0001) compared to the low 1st-25th income quartile. Conclusions: This study reinforces the strong association between CP and HD, highlighting the need for further research and prospective studies to validate these findings.

Prevalence of Enuresis in Children, Adolescents, and Young Adults Diagnosed With Attention Deficit Hyperactivity Disorder.

Background Enuresis, or bedwetting, is a common condition affecting millions of children worldwide. This can be a source of distress for both children and their families. Children, adolescents, and young adults with attention deficit hyperactivity disorder (ADHD) are at risk of developing enuresis. They have difficulties with executive functioning, including impulse control and emotional regulation. These difficulties may contribute to the development of enuresis, as individuals may struggle to recognize the urge to use the bathroom or have difficulty controlling their bladder during sleep. Objective To assess the prevalence of enuresis in children, adolescents, and young adults with ADHD and determine whether the presence of other behavioral disorders such anxiety, depression, learning disabilities, and autism comorbid with ADHD is a risk factor for developing enuresis. Method A case-control study included 213 children, adolescents, and young adults aged seven to 23 years, with 139 males and 74 females. A total of 161 participants were diagnosed with ADHD. Data collection consisted of a semi-structured interview conducted with each participant or their parents in person during their visit to Developmental Pediatric Clinics and Psychiatry Clinics. The questions were designed to collect data on the participant's ADHD diagnosis, enuresis history, other behavioral disorders, such as anxiety, depression, and learning difficulties, and any relevant medical or developmental history. The interview lasted approximately 30 minutes. Results Children, adolescents, and young adults with ADHD had a significantly higher prevalence of enuresis than the control group (13.6% vs. 0.9%, p = 0.01). Other behavioral disorders comorbid with ADHD did not pose a statistically significant risk for the development of enuresis (p = 0.36). Conclusions This study supports that children, adolescents, and young adults diagnosed with ADHD are more likely to have enuresis than those without ADHD. This finding is consistent with previous research and emphasizes the importance of a thorough evaluation and comprehensive treatment plan for individuals with ADHD.

Outcome of immunosuppression in children with IgA vasculitis-related nephritis.

BACKGROUND: Immunoglobulin A vasculitis with nephritis (IgAVN) is the most common vasculitis in children. Due to a lack of evidence, treatment recommendations are based on expert opinion, resulting in variation. The aim of this study was to describe the clinical presentation, treatment and outcome of an extremely large cohort of children with biopsy-proven IgAVN in order to identify prognostic risk factors and signals of treatment efficacy. METHODS: Retrospective data were collected on 1148 children with biopsy-proven IgAVN between 2005 and 2019 from 41 international paediatric nephrology centres across 25 countries and analysed using multivariate analysis. The primary outcome was estimated glomerular filtration rate (eGFR) and persistent proteinuria at last follow-up. RESULTS: The median follow-up was 3.7 years (interquartile range 2-6.2). At last follow-up, 29% of patients had an eGFR <90 mL/min/1.73 m2, 36% had proteinuria and 3% had chronic kidney disease stage 4-5. Older age, lower eGFR at onset, hypertension and histological features of tubular atrophy and segmental sclerosis were predictors of poor outcome. There was no evidence to support any specific second-line immunosuppressive regimen being superior to others, even when further analysing subgroups of children with reduced kidney function, nephrotic syndrome or hypoalbuminemia at onset. Delayed start of immunosuppressive treatment was associated with a lower eGFR at last follow-up. CONCLUSION: In this large retrospective cohort, key features associated with disease outcome are highlighted. Importantly, there was no evidence to support that any specific immunosuppressive treatments were superior to others. Further discovery science and well-conducted clinical trials are needed to define accurate treatment and improve outcomes of IgAVN.