Frontiers in Pediatrics最新文献

Narcolepsy is a sleep-wake disorder with an onset commonly seen in individuals aged 10-30 years. Due to various reasons, the diagnosis of narcolepsy often experiences a delay of at least ten years. Diagnosing narcolepsy in children is particularly challenging due to atypical symptoms, leading to frequent misdiagnosis or missed diagnoses. We report a case of narcolepsy in a four-year-old girl to provide insights into the early diagnosis and treatment of narcolepsy in children. As a chronic condition, narcolepsy can lead to decreased quality of life, including psychological issues such as depression and anxiety. Furthermore, there are few randomized controlled trials involving pediatric narcolepsy patients. To provide a comprehensive treatment approach for pediatric narcolepsy, we review the current progress in the treatment of narcolepsy in children.

Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.

Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively. In total, 43 fetuses were diagnosed with recurrent 1q21.1 deletion or duplication syndrome via array comparative genomic hybridization (array CGH) or copy number variation sequencing (CNV-seq). Prenatal clinical data, pregnancy outcomes, and individual conditions after birth were collected.

Results: In total, 20 fetuses were diagnosed with 1q21.1 deletion syndrome, and 11 had abnormal ultrasound findings. The most common ultrasound features were renal anomalies, musculoskeletal abnormalities, and increased NT. Other less common ultrasound findings encompassed neurologic abnormalities, cardiovascular defects, absence of the gallbladder, intrauterine growth retardation, and cervical cystic hygroma. On the other hand, 23 fetuses had reciprocal 1q21.1 duplication syndrome, 11 of which had abnormal ultrasound findings, mainly nasal bone abnormalities, cardiovascular defects, increased NT, and neurologic abnormalities.

Conclusions: Our case study suggested that the prenatal clinical phenotypes of the recurrent 1q21.1 deletion syndrome and reciprocal duplication syndrome fetuses were highly diverse with incomplete penetrance. Additionally, our findings should expand the intrauterine phenotype associated with the recurrent 1q21.1 region by a series of prenatal ultrasonic anomalies in this work that were described for the first time, which might broaden knowledge of the genotype and phenotype correlation.

Introduction: Sleep-disordered breathing (SDB) is considered the second most common chronic health condition in children. Untreated SDB is associated with long-term health consequences. Our objective was to translate the Pediatric Sleep Questionnaire (PSQ) into Lithuanian and culturally adapt and validate the translated version in order to improve the diagnosis of SDB in Lithuanian children.

Methods: Translations and cultural adaptations were performed to generate a Lithuanian version of the PSQ. Psychometric analysis was conducted on 112 Lithuanian children aged 2-17 years. All patients underwent overnight polysomnography.

Results: The Lithuanian PSQ showed good internal consistency (Cronbach's alpha = 0.816). Lithuanian PSQ responses administered 14-30 days apart were strongly correlated (r = 0.924, p < 0.001, 95% CI 0.830-0.967). EFA of the Lithuanian PSQ confirmed four factors ("snoring", "behavior", "sleepiness", and "other"). We found a sensitivity of 72.7% and specificity of 64.6% for a Lithuanian PSQ cutoff score of 8 to predict moderate-to-severe apnea, and a sensitivity of 85.0% and specificity of 62.0% to predict severe apnea. Using a Lithuanian PSQ cutoff ratio of 0.4, a sensitivity of 72.7% and specificity of 63.3% were found to predict moderate-to-severe apnea, and a sensitivity of 85.0% and specificity of 60.9% were found to predict severe apnea.

Conclusions: The Lithuanian version of the PSQ is a reliable, validated, and culturally adapted screening tool for the prediction of moderate-to-severe sleep apnea in children aged 2-17 years. However, polysomnography should be performed to confirm the diagnosis of sleep apnea and other SDB, and to determine the degree of the disorder and the need for treatment.

Background: The association between 25-hydroxy-vitamin D [25(OH)D] levels and glycemic control in pediatric patients with type 1 diabetes mellitus (T1DM) is unclear. In this study, we aimed to investigate the association between 25(OH)D levels and glycemic control in Saudi pediatric patients' with T1DM in a region that is sunny year-round.

Materials and methods: A retrospective study was conducted in the Pediatric Department of King Saud Hospital in Unaizah, Saudi Arabia. A total of 218 children with T1DM were enrolled in the study and grouped according to their glycated hemoglobin (HbA_1C) levels into the controlled T1DM (HbA_1C ≤ 7.5%) and the uncontrolled T1DM (HbA_1C > 7.5%). Their 25(OH)D levels and thyroid function were measured using standard methods.

Results: Of the 218 children in this study, 182 (83.5%) had uncontrolled T1DM, while only 36 (16.5%) had controlled T1DM. The median (interquartile range) of 25(OH)D levels was significantly lower in the uncontrolled T1DM group compared with the controlled group [45.4 (31.2-59.7) nmol/L vs. 56.1 (37.5-77.6) nmol/L; p = 0.007], respectively. Vitamin D deficiency (<50.0 nmol/L) and insufficiency (50-74 nmol/L) were detected in 55.0% and 31.1% of all the enrolled children, respectively. Vitamin D deficiency was detected in 86.6% of the uncontrolled T1DM patients and in 16.5% of the controlled T1DM patients (p = 0.012). The multivariable analysis showed that both vitamin D deficiency [adjusted odds ratio (aOR) = 2.92, p = 0.048] and insufficiency [aOR = 3.17, p = 0.042] were risk factors for uncontrolled diabetes.

Conclusion: Vitamin D deficiency was highly prevalent in the studied group. Both vitamin D deficiency and insufficiency are associated with uncontrolled T1DM. Further study is needed.

Introduction: This study investigates Mandarin-speaking children's acquisition of aspirated/unaspirated voiceless consonants in terms of perception and production, to track children's developmental profile and explore the factors that may affect their acquisition, as well as the possible association between perception and production.

Methods: Mandarin-speaking children (N = 95) aged 3-5 and adults (N = 20) participated in (1) a perception test designed based on the minimal pairs of unaspirated/aspirated consonants in the quiet and noisy conditions respectively; (2) a production test where participants produced the target words, with syllable-initial consonants focusing on aspiration and non-aspiration. Six pairs of unaspirated/aspirated consonants in Mandarin were included.

Results: (1) Children's perception and production accuracy of aspirated and unaspirated consonants increased with age. Five-year-olds achieved high accuracy in the perception under the quiet condition and in the production (over 90%), though not yet adult-like. (2) Noise adversely affected children's perception, with all child groups showing poor performance in the noisy condition. In terms of perception, stops were more challenging to children than affricates, but in terms of production, children performed better on stops. Furthermore, the presence of noise had a greater detrimental effect on the perception of aspirated consonants compared to unaspirated ones. (3) A weak positive correlation was found between children's perception of consonant aspiration in the quiet condition and their production.

Discussion: The findings indicate that age, aspiration state, and manner of articulation (MOA) would affect children's acquisition of consonant aspiration. Although 5-year-olds have almost acquired aspirated/unaspirated consonants, compared to adults, the perception of consonant aspiration in noise remains a challenge for children.

Objective: The study aimed to describe the characteristics and risk factors associated with disease severity across six waves of COVID-19 in the pediatric population in Mexico.

Methods: A cohort study was conducted using data from the Mexican Ministry of Health, covering the period from March 2020 to March 2023. The dataset included patients under 18 years of age with confirmed SARS-CoV-2 infection. Univariate, bivariate, and logistic regression analyses were performed to determine demographic and clinical characteristics, mortality across waves, and age group distributions.

Results: Of the total cohort, 9.5% were children, with 497,428 confirmed cases. Among these, 50% were male, 4.4% required hospitalization, and there were 1,447 (0.03%) deaths. The highest prevalence was observed in the 12-17-year age group (52%), followed by the 5-11-year age group (32%), with incidence rates peaking towards the end of 2021 and the early 2022. Although the 0-2-year age group represented 9.6% of cases, it had higher hospitalization (40%), ICU admission (58%), and case fatality rate (CFR) (44%). Cardiovascular disease, hypertension, diabetes and immunosuppression were identified as risk factors for severe outcomes. The initial wave displayed the highest CFR (OR 5.28) especially in children aged 0-2 years.

Conclusions: Children were less affected during the pandemic compared to adults; however, children under two years-old experienced more severe outcomes. Currently, with 95% of the population estimated to be immune due to vaccination and/or prior infection, children under 2 years of age are now at higher risk of severe disease and should be evaluated for vaccination as a public health policy.

Objective: To explore the risk factors for the reactivate of retinopathy of prematurity (ROP) after intravitreal injection of anti-vascular endothelial growth factor (VEGF) and to construct a nomogram model to predict the risk of ROP reactivate.

Methods: A retrospective analysis was conducted on 185 ROP children who underwent anti-VEGF treatment at the First Affiliated Hospital of Zhengzhou University from January 2017 to October 2023. They were randomly divided into a training set (129 cases) and a validation set (56 cases) at a ratio of 7:3. The training set was further divided into a reactivate group (n = 18) and a non-reactivate group (n = 111) based on whether ROP recurred after treatment. Multivariable logistic regression analysis was used to screen for risk factors for ROP reactivate. A nomogram model was constructed using R software and validated using the validation set. The discrimination, calibration, and clinical net benefit of the model were evaluated using the receiver operating characteristic curve (ROC curve), calibration curve, and decision curve analysis, respectively.

Results: Multivariable logistic regression analysis showed that the number of red blood cell transfusions, use of pulmonary surfactant (PS) 2 times or more, and preoperative fundus hemorrhage were independent risk factors for ROP reactivate (P < 0.05). The area under the ROC curve (AUC) of the training set was 0.810 (95% CI: 0.706-0.914), and that of the validation set was 0.756 (95% CI: 0.639-0.873). The Hosmer-Leme show goodness-of-fit test indicated a good fit of the model (P = 0.31). Calibration curve analysis and decision curve analysis suggested high predictive efficacy and clinical application value of the model.

Conclusions: The number of red blood cell transfusions, use of PS 2 times or more, and preoperative fundus hemorrhage are independent risk factors for ROP reactivate. The nomogram model constructed based on these factors has high predictive efficacy and clinical application value.

In recent years, advancements in modern laboratory diagnostics have identified Kingella kingae (K. kingae) as the major cause of osteoarticular infections in early childhood. The introduction of novel diagnostic methods has ushered in a new era, transitioning from underrated infections to recognizing K. kingae as the primary etiology of skeletal system infections in children. This article provides a new perspective on K. kingae, exploring innovative diagnostic methods that have improved and will continue to transform the management of these infections.

Introduction: Cryptorchidism can damage cells in the cryptorchid testes due to elevated local temperatures, potentially impacting the fertility of the child in adulthood. Research indicates that vitamin D enhances sperm quality in adult males. This study aimed to explore whether vitamin D inhibits NLRP3 activation, thus helping to mitigate heat stress damage to testicular spermatogenic and Sertoli cells.

Materials and methods: Five cases of normal testicular tissue adjacent to a tumor (testis removed due to tumorous growth) and five cases of atrophied cryptorchid testicular tissue (testis removed) were analyzed for immunohistochemistry to determine NLRP3 expression in cryptorchid tissue. In Phase I, spermatogonia (GC-1) and Sertoli cells (TM4) were separated into blank and heat stress groups. Apoptosis, inflammatory factor levels, and the expression of Bcl-2 and NLRP3 genes and proteins were measured at 2, 6, and 10 h after heat stress treatment. In Phase II, the cells were re-cultured and divided into three groups: heat stress, siRNA + heat stress, and VD + heat stress. After 10 h, the apoptosis, inflammatory factor levels, and gene and protein expressions of Bcl-2 and NLRP3 were reassessed in each group.

Results: Immunohistochemistry indicated NLRP3 expression in cryptorchid tissue. Phase I, extending heat stress duration led to increased apoptosis in spermatogonia (GC-1) and testicular Sertoli cells (TM4), heightened levels of inflammatory factors, reduced BCL-2 expression, and elevated NLRP3 expression compared to the control group. Phase II, both the siRNA + heat stress and VD + heat stress groups showed decreased apoptosis in spermatogonia and Sertoli cells, lower inflammatory factor levels, increased BCL-2 expression, and decreased NLRP3 expression compared to the heat stress-only group, with statistically significant differences (P < 0.05).

Conclusions: This is the first time we found the expression of NLRP3 in cryptorchidism. Vitamin D can inhibit the expression of NLRP3 and reduce the damage of heat stress on testicular spermatogenic cells and Sertoli cells, and play a protective role for testicular spermatogenic cells and Sertoli cells. This provides a theoretical basis for preserving testicular function during the "treatment gap" in boys with cryptorchidism who have not received surgical treatment.

Introduction: Increased intracranial pressure (ICP) is common with viral encephalitis in children which is associated with complications and prognosis. The optic nerve sheath diameter (ONSD) is a new indicator for the assessment of intracranial pressure using ultrasound, CT scan and MRI imaging. Given the influence of physical development on ONSD size in children, we expect more accurate assessment of intracranial pressure with ONSD/ETD (eyeball transverse diameter) ratio by ultrasound. The aim of the study is to determine the performance of the ONSD/ETD ratio measurement to predict ICP occurring in children with viral encephalitis and evaluate the therapeutic effect.

Methods: Children with viral encephalitis from May 2022 to June 2024 were recruited in this study. The initial ONSD/ETD ratio measurement by ultrasound were completed before lumbar puncture. Children were divided into the increased ICP group and the normal ICP group based on whether the ICP was over 200 mmH₂O measured by lumbar puncture. The ultrasound was repeated on the 3rd and 7th day of treatment.

Results: The ONSD/ETD ratios measured in the two groups before treatment were 0.231 ± 0.019 and 0.182 ± 0.012, respectively (p < 0.01). The ONSD/ETD ratio on the 3rd day of treatment in the increased ICP group was significantly lower than the data before treatment (p < 0.01). The data on the 7th day of treatment in increased ICP group was significantly lower than the data before treatment (p < 0.01), but not statistically significant compared to the data on the 3rd day of treatment (p = 0.650). The ROC curve demonstrated an AUC for ONSD/ETD ratio in predicting the occurrence of increased ICP in children with viral encephalitis was 0.974 [95% confidence interval (CI): 0.939-1.000, p < 0.01], with a sensitivity of 95.1% and specificity of 93.3% at a cut-off value of 0.198.

Conclusion: Our study shows that ONSD/ETD can be used as an easy reference tool for evaluating ICP in children with viral encephalitis which can reflect the therapeutic effect.