Objective To understand the prevalence of respiratory syncytial virus (RSV) and co-positivity of other pathogens before, during and after COVID-19 pandemic, and to provide evidence-based support for improving the prevention and treatment of acute respiratory tract infections (ARTIs) in children. Methods The pathogen detection results of ARTIs children aged ≤16 years who were admitted to the Children's Hospital of Soochow University from January 2016 to May 2024 were retrospectively analyzed. The characteristics of RSV epidemics and mixed positivity for other pathogens in the first year of the COVID-19 epidemic (2020, Stage Ⅰ), the second and third years (2021-2022, Stage Ⅱ) and the post-COVID-19 epidemic (January 2023 to May 2024, Stage Ⅲ) were compared with those in the pre-epidemic period. Results The study included 83356 children with ARTIs, with 11277 (13.5%) testing positive for RSV, 5605 (6.7%) testing positive for RSV alone, and 5672 (6.8%) testing positive for RSV in combination with other respiratory pathogens. In RSV positive children, the detection rates of bacteria, other viral pathogens and atypical pathogens were 39.5%, 13.6% and 5.7%, respectively. RSV test positive rates decreased in 2020 and 2022, while RSV test positive rates increased in 2021, 2023 and 2024 compared with predicted positive rates. There were significant differences in age, epidemic period and season between single RSV positive group and mixed RSV positive group (P<0.001). In stage Ⅲ, the positive rate of RSV mixed with other pathogens was significantly higher than that of single RSV, and the difference was statistically significant (P<0.01). The detection rate of influenza A/B viruses, human parainfluenza virus, adenovirus, human metapneumovirus, Mycoplasma pneumoniae, Chlamydia pneumoniae and Haemophilus influenzae was significantly higher in children with RSV. Conclusions The COVID-19 pandemic had an adverse impact on the prevalence of RSV and the diagnosis and treatment of mixed-positive cases of other pathogens, and the resurgence of mixed-positive RSV and the escalation of infections should be monitored for a long time after COVID-19.

Spinal muscular atrophy (SMA) is a common fatal and disabling neuromuscular disease in infants and young children, caused by the degeneration of spinal anterior horn motor neurons, leading to progressive muscle weakness and atrophy in the limbs. In recent years, the emergence and application of disease-modifying therapies are gradually changing the natural history of SMA. However, the efficacy of these therapies is closely related to factors such as the age at treatment initiation and the pre-treatment disease course. Pre-symptomatic treatment is more promising to enable the affected children to survive and achieve near-normal motor milestones. This consensus was developed by experts from relevant fields, focusing on the following themes: pre-symptomatic SMA diagnosis, treatment decision-making, follow-up management, and key points for parental communication, with the aim of providing standards and guidance for clinical practices of pre-symptomatic treatment of pediatric SMA.

Spinal muscular atrophy (SMA), a devastating hereditary neuromuscular disease, is often complicated by scoliosis. While scoliosis correction surgery is frequently indicated to correct spinal deformities, it is not without significant risks, including the potential for infection, hemorrhage, and neurological damage. Consequently, the management of perioperative medications is of paramount importance for the prevention and control of these complications, as well as for facilitating patient recovery. However, the distinctive physiological and pathological characteristics of SMA, coupled with the lack of standardized protocols, present considerable challenges in perioperative medication management. This review article offers an in-depth examination of the perioperative medication therapy management for patients with SMA undergoing scoliosis surgery. It aims to establish an evidence-based framework and provide a reference for the judicious use of drugs in clinical settings.

Objective To explore the risk factors of death from influenza A (H1N1)-associated encephalopathy (IAE) in children, and to provide evidence for early clinical diagnosis and intervention. Methods The clinical data of children with H1N1 IAE admitted to the hospital from January 2014 to December 2020 were retrospectively analyzed, and they were divided into the survival group and the death group according to prognosis. The risk factors associated with death in children with H1N1 IAE were analyzed by binary logistic regression. Results A total of 59 children (39 boys and 20 girls) with H1N1 IAE were included. The median age was 42 (21-73) months, and 66.1% (39/59) of the children were <5 years old. The median time between the onset of neurological symptoms and fever was 1 (0.5-2) days. Thirty-three patients (55.9%) had severe pneumonia and respiratory failure, and 1 of them had plastic bronchitis. Fifty-eight children were treated with oseltamivir. The median time from onset to use of anti-influenza drugs was 2 (1-4) days. Forty-eight patients were discharged from hospital with improvement and 11 died (18.6%). The median time from admission to death was 3 (1-5) days. Compared with the survival group, the death group presented higher incidences of consciousness disorder, respiratory failure, and brain herniation, a greater proportion of cases requiring mechanical ventilation treatment, a higher neutrophil count, elevated levels of procalcitonin, blood glucose, aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase, a longer prothrombin time, a higher ratio of abnormal head CT findings, and a lower monocyte count. All the differences were statistically significant (P<0.05). The results of binary logistic regression analysis revealed that elevated neutrophil count and lactate dehydrogenase levels might be associated with the occurrence of death in children with H1N1 IAE (P<0.05). Conclusions For children with H1N1 IAE, the risk of death may increase with elevated neutrophil counts and lactate dehydrogenase levels.

Objective To investigate the clinical efficacy of disease-modifying therapies (DMTs) in spinal muscular atrophy (SMA) patients with SMN1 gene compound heterozygous variants. Methods A retrospective analysis was performed on two cases with SMN1 compound heterozygous SMA, including clinical data, treatment approaches, and prognosis. Clinical findings were contextualized through a systematic literature review of analogous cases. Results Two SMA type I patients exhibited SMN1 compound heterozygous: a 4-year-old male (Patient 1) with exon 7 heterozygous deletion and c.188C>A variation, and a 1.7-year-old female (Patient 2) with exon 7 heterozygous deletion and c.683T>A variation. Patient 1 initiated rehabilitation at 7 months of age, received nusinersen treatment at 1 year and 6 months, added risdiplam as combination therapy at 3 years, and discontinued rehabilitation at 3 years and 10 months. Following DMTs, the patient showed slow progress in motor function, acquiring the ability to roll over to the side and sit with support, and is currently able to sit with assistance. Patient 2 started rehabilitation at 4 months of age, received risdiplam at 7 months, and switched to nusinersen treatment at 1 year and 5 months due to persistent darkening of skin color. The combination of DMTs and rehabilitation resulted in significant improvement in the patient's motor function, achieving milestones such as sitting independently and standing with support. Currently, she can stand independently for 7-8 seconds and take steps. Conclusion DMTs can improve the overall prognosis of children with compound heterozygous SMA and enhance their motor function.

Objective The pursuit of salvage treatment for refractory macrophage activation syndrome (MAS) associated with systemic juvenile idiopathic arthritis (sJIA) is of paramount importance. This paper aims to investigate the application options and therapeutic efficacy of ruxolitinib in the treatment of refractory sJIA-MAS. Methods A retrospective analysis was performed on the clinical data of a child with refractory sJIA-MAS and the outcome following the administration of ruxolitinib. Results An 11-year-old girl, diagnosed with sJIA for four years and having experienced two previous episodes of MAS, was admitted to the hospital due to active sJIA and developed MAS again during the treatment course. Despite three rounds of high-dose methylprednisolone pulse therapy in combination with cyclosporine A and tocilizumab (TCZ), her condition failed to improve, with persistent high fever and severe liver function impairment, among other abnormal laboratory indicators. After discontinuing TCZ and initiating ruxolitinib with an adjusted oral dose of 10 mg twice daily, the child's condition improved, enabling a smooth reduction of the hormone dosage. Ruxolitinib was discontinued after approximately three months of treatment, and there was no recurrence of the disease. Conclusion Ruxolitinib may potentially serve as a salvage treatment option for refractory sJIA-MAS.

An 43-month-old female baby, born in February 2021, got MLPA examination after birth because of the family history of SMA, and the results showed SMN1 gene exon 7, 8 homozygous deletions and two copies of SMN2 gene. The baby was admitted to the Department of Neurology of Shenzhen Children's Hospital for the first time in March 2021.Physical examination showed she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Nusinersen intrathecal injection was given to the baby after all preparations were completed. She was subsequently multiple readmitted for the treatment and motor function assessment according to the medication plan. Up to now, the child has received a total of 14 treatments without interruption. And she was additionally treated with Risdiplam by her parents in January 2024. From the beginning until now, her breathing and eating functions have been normal, without scoliosis. Her motor development milestone is slightly delayed compared to normal children: head up stability and head up 90 degrees in prone position at 4-month, flip from supine position to prone position at 6-month, sit with hand support at 8-monthand sit alone at 9-month, walk by holding her one hand at 13-month, walk alone at 16-month, walk steadily at 19-month, play alone on a slide at 30-month, jump with both feet at 36-month, and her motor function score is lower than that of normal children. Currently, her various life skills and motor function performances are roughly similar to those of normal children of the same age.

Objective To analyze the clinical characteristics and genetic variations in 8 children with metachromatic leukodystrophy (MLD), and to explore the correlation between genotype and clinical phenotype as well as the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods The study collected data from children diagnosed between 2013 and 2024, confirmed through whole exome sequencing, and found that all children had symptoms such as developmental delay, with ages at diagnosis ranging from 1 year and 3 months to 9 years and 6 months. Results Based on the age of onset and clinical manifestations, 4 cases were late infantile type, with 2 deaths; 4 cases were juvenile type, with a survival rate of 100%. Genetic sequencing revealed compound heterozygous variations in the ARSA gene, a total of 15 mutations, of which 3 were newly reported and all were deleterious variations. Three children received allo-HSCT treatment and all survived but with progression of symptoms. Conclusion MLD mainly manifests as central nervous system damage, and diagnosis should be confirmed in combination with clinical manifestations, ARSA enzyme activity, and genetic testing. Early diagnosis and treatment are crucial for improving prognosis, and allo-HSCT can increase survival rates, but the therapeutic effect is limited.

Objective To raise the awareness of Pneumocystis jirovecii pneumonia (PCP) in children complicated with severe pertussis, and to enable early diagnosis for improved prognosis. Methods The clinical data of children diagnosed with severe pertussis complicated by PCP from January 1, 2020 to December 31, 2023 were retrospectively analyzed. Results Five cases were enrolled, with one male and four females. The median age was 3.0(2.5-10.0) months, and the median hospital stay was 17.0(7.5-23.5) days, with three deaths recorded. All cases experienced apnea and hypoxemia, with 3 cases presented acute respiratory distress syndrome (ARDS), and 3 cases developed pulmonary hypertension and pertussis encephalopathy. The peak of leucocyte count were 43.8(25.2-87.8)×10⁹/L, which decreased to a post-treatment median of 8.5(5.0-36.5)×10⁹/L, and the median LDH was 942.0(466.5-1837.0) U/L. All 5 cases were treated with azithromycin before diagnosis of PCP, and co-trimoxazole combined with echinocandin were administered additionally for PCP, while 2 survivors were treated within 5 days. Conclusion PCP can occur in severe pertussis children without immunodeficiency, and there is a high risk of death when severe pertussis is complicated by PCP. When the routine treatment for severe pertussis in children has poor efficacy, it is necessary to be alert for Pneumocystis jirovecii infection. Early combined use of co-trimoxazole with echinocandin may improve prognosis.

Catecholaminergic polymorphic ventricular tachycardia is a hereditary cardiac channelopathy. Most cases are related to mutations in the RYR2 and CASQ2 genes, which severely disrupt the calcium homeostasis in cardiac cells. Excessive calcium release leads to delayed depolarization, ultimately leading to arrhythmia. This disease is seen in patients who experience syncope after intense exercise or stress-related emotions, as well as in patients with sudden cardiac arrest or even sudden cardiac death. It is mainly diagnosed through exercise stress testing and genetic testing. Standard treatment for CPVT relies on beta-blockers, while flucainide and left ventricular sympathetic nerve denervation are second-line treatments. Implantation of cardioverter defibrillators is suitable for patients at a high risk of sudden death, and some potential therapeutic interventions have also been identified. This review summarizes the genetics, pathophysiology, clinical features, diagnosis, and treatment strategies of CPVT, with the aim of providing clinical guidance.

Objective To review the clinical features and genetic test results of a case of Shwachman-Diamond syndrome caused by SBDS gene mutation but misdiagnosed as idiopathic short stature. Methods Clinical data, laboratory and imaging results and genetic data were collected and followed up. Results The patient was a boy aged 10 years and 11 months. Clinical manifestations included short stature, anemia and thrombocytopenia were indicated by laboratory examination, and the peak value of growth hormone stimulation test was 31 μg/L. Trio whole-exome sequencing revealed the presence of c.258+2T>C and c.286T>C complex heterozygous mutation, inherited from the proband's mother and father respectively; His younger brother also carried the same SBDS gene complex heterozygous mutations and exhibited similar clinical features, including short stature, anemia, thrombocytopenia, and leukopenia. Notably, the c.286T>C has not been previously reported in the literature and represents a novel mutation site. Growth hormone treatment for half a year, the height increased by 2.1cm, indicating poor therapeutic efficacy. Regular outpatient follow-up shows that there is still anemia and thrombocytopenia. Conclusion presenting with short stature complicated by bone marrow failure should be evaluated for Shwachman-Diamond syndrome, and genetic examination should be improved. The c.286T>C mutation identified in this case is a novel mutation site. In this instance, growth hormone therapy proved ineffective.

Nocturnal enuresis is a common disease in childhood, which can be harmful to the children’s physical and psychological well-being. Standardized diagnosis and therapeutic approaches are very important for the efficacy and prognosis of enuresis. In recent years, with the accumulation of domestic and foreign clinical research evidence and the application of new diagnostic and therapeutic concepts, it is of great clinical significance to update and improve the consensus on the diagnosis and treatment of enuresis. Therefore, Chinese Cooperative Group for the Management of Pediatric Enuresis Affiliated to Pediatric Nephrology Committee of Chinese Medical Doctor Association has revised and updated the 2014 version of the "Expert Consensus on the Management of Monosymptomatic Nocturnal Enuresis in Chinese Children" based on the latest domestic and international evidence-based rationales and combined with clinical experience. The definition has been revised in accordance with international authoritative guidelines, and the diagnosis process and standardized terminology has been enhanced. The content of medical history collection has been updated to emphasize the differentiation of other diseases and comorbidities, and the recording method of the voiding diary has been revised to improve compliance. For monosymptomatic enuresis, the dosage adjustment and discontinuation plan of desmopressin have been added, and the specific dosage recommendations for second-line drug treatment have been refined. Additionally, a new section on non-monosymptomatic enuresis has been introduced, including treatment strategies and pharmacologic interventions. This consensus recommendations in a problem-oriented manner, delivering more comprehensive and structured guidance for the management of nocturnal enuresis.

Objective To investigate the clinical and genetic characteristics of PRKAG2 cardiac syndrome (PCS) in Chinese pediatric patients. Methods A retrospective analysis was conducted on the clinical data and genetic testing results of patients diagnosed with PCS at Shanghai Children's Medical Center from September 1999 to October 2022. Results Seven pediatric patients were included in this study, six males and one female, with a median age of onset of 9.0 (3.0-12.0) years. Five patients had varying degrees of left ventricular hypertrophy, four had ventricular preexcitation, two had atrioventricular conduction block, and one experienced sinus arrest.Six variants in the PRKAG2 gene were identified among the seven patients, including two novel mutations (F293V, Q337H). During a median follow-up of 3.0 (2.0-3.8)years, one patient progressed to end-stage heart failure and underwent heart transplantation, one received a pacemaker due to complete atrioventricular block, and two underwent septal reduction therapy for left ventricular outflow obstruction (septal myectomy or septal radiofrequency ablation, respectively). Conclusions PCS is a rare cause of hypertrophic cardiomyopathy in children, often associated with conduction system abnormalities. It is crucial to consider screening for PCS in pediatric patients with hypertrophic cardiomyopathy who present with pre-excitation syndrome or bradyarrhythmias.

MUT-type methylmalonic acidemia (MMA) is an autosomal monogenic genetic disorder caused by mutations in the MMUT gene, which can involve multiple organ damage, mainly brain damage, and has a high mortality rate. Diet therapy, levocarnitine and vitamin B₁₂ therapy are the main treatment method for MUT-type MMA, and some severe patients need liver and kidney transplantation, but the treatment effect and prognosis are poor. Gene therapy for MUT-type MMA using various vectors in animal model and phase 1/2 study are underway. Gene therapy in MUT-type MMA clinical trials is still in an early stage and provides a new treatment method. This article reviews the current status of gene therapy research for MUT-type MMA and aims to guide future research.

Neural tube defects (NTDs) are a class of birth defects that can lead to death or disability. To further guide the prevention, screening, diagnosis, and management of NTDs, the Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association and other organizations convened a panel of multidisciplinary experts for discussion. This panel referenced the latest domestic and international research progress and consensus guidelines, formulating the following expert consensus.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that leads to muscle weakness, atrophy, and which can lead to death in severe cases. Recently, therapeutic drugs that can modify SMA have emerged and have significantly improved the clinical symptoms and the quality of life of patients. However, the long-term efficacy and safety of these drugs are not yet established, and various confounding factors affecting drug efficacy need further analysis and study. This article reviews the real-world efficacy and safety studies of drugs for SMA modification drugs, intending to provide some new inspirations and thaughts for the precision and individualized treatment of SMA.

Objective Based on the body mass index (BMI) classification of Chinese population and the latest recommended range of gestational weight gain by the Chinese Nutrition Society, this study aims to evaluate the pre-pregnancy BMI and gestational weight gain status of pregnant women and further explored explore their influence on neonatal birth outcomes. Methods A total of 26 422 pregnant women who received regular prenatal examination were selected from January 2018 to December 2019 were included. The pre-pregnancy BMI, gestational weight gain of the study subjects, and their demographic characteristics among subgroups were described. Univariate and multivariate binary logistic regression analyses were employed to investigate the relationships between pre-pregnancy BMI and gestational weight gain and various neonatal outcomes (such as macrosomia, low birth weight, preterm birth, and asphyxia). Finally, a heatmap was utilized to explore the combined effect of pre-pregnancy BMI and gestational weight gain on fetal weight. Result The study found that the proportions of underweight and overweight/obese pregnant women were 13.8% and 14.7%, respectively, indicating a similar distribution. More than 50% of the participants experienced abnormal gestational weight gain. Insufficient gestational weight gain was associated with an increased risk of preterm birth. A low pre-pregnancy BMI or insufficient gestational weight gain elevated the risk of small for gestational age (SGA), whereas a high pre-pregnancy BMI or excessive gestational weight gain increased the risk of large for gestational age (LGA) and dystocia (cesarean section, forceps/vacuum extraction) (P<0.05). Multivariate analysis did not reveal a significant association between pre-pregnancy BMI, gestational weight gain, and neonatal asphyxia (P>0.05). Conclusion Abnormal gestational weight gain remains a significant issue among pregnant women, suggesting that obstetric healthcare providers and society need to strengthen the dissemination of pregnancy knowledge and weight management for pregnant women. In clinical practice, heatmaps can be utilized to assess individual risks of abnormal fetal weight and dystocia, thereby reducing adverse outcomes.

Testicular microlithiasis (TML) is a relatively rare disease associated with testicular tumors and male infertility. The incidence of TML is on the rise, peaking around the age of 11 years old. While the etiology and pathogenesis remain to be fully elucidated, and its occurrence is related to testicular injury, genetic predisposition, infections, dietary habits, lifestyle choices, and underlying medical conditions. Ultrasoundimaging serves as the primary diagnostic tool for TML, playing a crucial role in its classification and grading. The treatment of TML is mainly management of these complications. Children with TML who have a history of germ cell tumors, undescended testes, post-orchiopexy, testicular atrophy with a volume of less than 12 mL, a family history of germ cell tumors, or related genetic disorders require close observation and should be promptly referred to specialists upon detection of any abnormalities. Furthermore, cases exhibiting focal lesions or significant calcifications on ultrasound warrant immediate referral to specialists.

Objective To analyze the epidemiological characteristics of human bocavirus (HBoV) in hospitalized children with acute respiratory tract infections, and to provide evidence for the diagnosis and prevention of acute respiratory infection in children. Methods A retrospective analysis was conducted on the etiological test data of sputum or bronchoalveolar lavage fluid from children hospitalized due to acute respiratory tract infections in a hospital in Shijiazhuang from March 2021 to February 2024. Detection was carried out using a multiplex detection kit for 13 respiratory pathogens. The epidemiological characteristics of HBoV, including population distribution and seasonal distribution, were described and analyzed. Results The total detection rate of HBoV was 3.73% (1315/35220), with a higher detection rate in male (3.91%) than in female (3.49%) (χ²=4.08, P<0.05). The detection rate is highest in the 1- <3 years old group (9.25%, 722/7805), followed by the 3- <6 years old group (3.42%, 362/10585). There was a statistically significant difference in detection rates among different age groups (χ²=989.15, P<0 001). The detection rate of HBoV varied in different years. The highest detection rate was in 2021 - 2022 (5.20%, 443/8519), and the lowest was in 2022 - 2023 (2.22%, 204/9195), with a statistically significant difference (χ²=110.02, P<0.001). During the study period, the highest detection rate was 8.56% (823/9610) in summer, followed by 3.15% (276/8773) in autumn. And there was a statistically significant difference detection rates among different seasons(χ²=939.36, P<0.001). Among the patients with HBoV infection detected, 557 cases had no other pathogens detected, while 758 cases were co-infected with at least one other pathogenic microorganism. Conclusions HBoV is a common pathogen of acute respiratory infections in children in Shijiazhuang. It is more common in children aged 1- <3 in summer and autumn, with more males than females. It is often co-detected with other respiratory pathogens.

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder characterized by progressive muscle weakness and eventual fatality. In recent years, more and more gene therapies have emerged, and comprehensive care throughout the disease course remains crucial for maximizing patient’s survival and quality of life. This consensus, developed through literature review, expert consultations, and clinical experience, provides guidance for managing following aspects of care in non-ambulatory DMD patients, including respiratory, cardiac, rehabilitation, skeletal, nutritional, digestive, dermatological, cognitive, and psychological care. This aims to provide a scientific and practical support for families caring for non-ambulatory DMD patients.

Objective This study aimed to identify the risk factors associated with the recurrence of seizures during the acute phase of febrile seizures (FS) in children. Methods A retrospective analysis of FS patients treated in the emergency department from January to December 2021 were conducted. Those with recurrent seizures during the acute phase were categorized as the recurrent febrile seizures group (RFS), while those with non-recurrent FS, matched for age and gender at a ratio of 1:2, were designated as the non-recurrent febrile seizures group (NRFS). Demographic data, clinical characteristics of seizures, and laboratory findings were compared between the RFS and NRFS groups. Significant variables from univariate analysis were subsequently included in a multivariate logistic regression analysis to explore the determinants of seizure recurrence in the acute phase of FS. Results Among the 204 enrolled patients, 68 were in the RFS group and 136 in the NRFS group. The RFS group exhibited shorter intervals from fever onset to seizure, a younger age at the initial FS episode, lower body temperature at the time of seizure, and higher neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), and C-reactive protein (CRP) levels, all of which were statistically significant (P<0.05). Multivariate logistic regression analysis revealed that a positive family history of FS (OR=8.157, 95% CI: 2.773-23.989), younger age at the first FS episode (OR=0.960, 95% CI: 0.928-0.994), higher MLR (OR=6.608, 95% CI: 1.505-29.020), and elevated CRP (OR=1.108, 95% CI: 1.041-1.180) were significant predictors of seizure recurrence during the acute phase of FS. The predictive model's performance was evaluated using the area under the receiver operating characteristic (ROC) curve, which was 0.871 (95% CI: 0.818-0.923), with a critical value of 0.30, yielding a sensitivity of 85.3% and a specificity of 76.5%. Conclusion A positive family history of FS, a younger age at the first FS episode, and elevated MLR and CRP levels are risk factors for the recurrence of seizures during the acute phase of FS in children. The use of logistic regression to develop a combined predictive factor offers a higher diagnostic value for identifying seizure recurrence in this phase.

The use of fiberoptic bronchoscopy (FB) in pediatrics has been established over several decades, as an invasive airway procedure, FB is crucial for diagnosing and treating tracheal and pulmonary diseases in children. However, its application in pediatric patients is constrained by factors such as low patient cooperation, relatively narrow airways, and poor tolerance to hypoxia. Consequently, ensuring a safer and more comfortable FB examination and treatment for pediatric patients is imperative. Sedation and anesthesia during FB can significantly enhance the comfort and safety of the diagnostic and therapeutic procedures for pediatric patients. This review discusses recent advances in sedation techniques for pediatric patients undergoing FB and offers guidance for clinical practice.

Vegetarian diets have become increasingly popular due to their perceived health benefits, with the majority of research focusing on the nutritional status and disease implications in adults. However, less attention has been paid to children and adolescents with plant-based food pattern. This review has systematically searched 24 relevant researches on vegetarian children and adolescents up to August 2023 and summarized the overall nutritional status, including vitamin B₁₂, vitamin D, calcium and iron. Additionally, it has demonstrated the impact of vegetarianism on growth and its association with diseases of vegetarian children and adolescents. Further, more studies are warranted to enhance health workers’ understanding about healthy vegetarian patterns and provide scientific evidence to guide children and adolescents to have a balanced vegetarian diet, and potentially inspire new approaches to dietary therapy for metabolic diseases.

Objective To explore the clinical features and genetic mutation characteristics of a case of global developmental delay caused by a novel variant in the CHD1 gene, and to investigate its relationship with Pilarowski- Bjornsson syndrome (PILBOS, OMIM# 617682). Method Trio whole-exome sequencing (trio-WES) was performed to identify the pathogenic gene within the pedigree, and the clinical data of the patient were summarized to analyze both clinical and genetic characteristics. Result The patient was an 8-month-old male and presented to the Department of Pediatric Neurology at our hospital with the main complaint of " developmental delay for more than six months". Trio-WES detection revealed a missense mutation in exon 1 of the CHD1 gene on chromosome 5q15-q21, with a c.13A>G (p.Ser5Gly) mutation (transcript number NM_001270), which represented a novel (de novo) variation consistent with an autosomal dominant inheritance pattern. The final diagnosis was" Comprehensive developmental delay caused by CHD1 gene deficiency". Conclusion There are currently few reports on cases of CHD1 gene mutations, and the identified mutations in this case has not been previously documented. Expanding the genotype phenotype spectrum of CHD1 gene defects also provides data for further understanding of PILBOS disease. Accurate diagnosis relies on molecular genetic testing, and additional cases need to be accumulated for further analysis of genotype phenotype relationships and prognosis evaluation.

Objective This study aims to investigate the clinical characteristics and risk factors of invasive fungal disease (IFD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with transfusion-dependent thalassemia (TDT). Methods The clinical data of 424 children with TDT who received allo-HSCT from January 2021 to December 2022 were retrospectively analyzed, and the influencing factors of IFD after allo-HSCT were analyzed. Results A total of 424 TDT children undergoing allo-HSCT were included, 261 (61.6%) boys and 163(38.4%) girls, with a median age of 8.0 (5.0-11.0) years. Among them, there were 278 cases of haploidentical transplantation, 116 cases of matched or well matched related transplantation, and 30 cases of matched or well matched unrelated transplantation. All transplant patients received primary antifungal prophylaxis. A total of 30 patients (7.1%, 20 boys and 10 girls) had IFD, 25 patients (83.3%) were probable IFD and 5 (16.7%) were proven IFD. The median occurrence time of IFD was 39.0 (23.5-85.8) days after transplantation. The lung was the most common site of infection (24 cases, 80.0%). Cough (15 cases, 50.0%) and fever (10 cases, 33.3%) were the main symptoms. The pulmonary imaging findings were atypical (14 cases, 46.7%). The main fungal pathogen was Aspergillus (19 cases, 63.3%). Co-infection was detected in 17 cases (56.7%), and co-virus infection was most common. The median follow-up time was 16.0 (9.0-21.8) months, and the overall survival (OS) rate was (99.3±0.01) %. The OS rates of non-IFD group and IFD group were (99.7±0.003) % and (93.3±0.06)%, respectively, and the difference between the two groups was statistically significant (P<0.001). The results of binary logistic regression analysis indicated that poor graft function or graft failure, acute graft-versus-host disease (aGVHD) and antifungal prophylaxis of non-posaconazole were independent risk factors for development of IFD after allo-HSCT (P<0.05). Conclusions TDT children undergoing allo-HSCT and receiving primary fungal prophylaxis exhibited a low incidence of IFD, and IFD was associated with higher risk of death. Patients with a history of poor graft function/ graft failure, aGVHD or those receiving non-posaconazole prophylaxis faced a greater risk of developing IFD.

The etiology of vertigo in children is complex and involves multiple clinical departments. Children's vertigo also has certain special characteristics. Therefore, its diagnosis and treatment are difficult. This article analyzes the clinical diagnostic and treatment points of childhood vertigo from various specialties and proposes a multidisciplinary treatment model to promote precise diagnosis and standardized comprehensive treatment of childhood vertigo diseases, ultimately improving the identification rate of diseases, symptom remission rate, and long-term prognosis.

Objective To investigate the clinical and genetic characteristics of children with epilepsy caused by variations of the KCNQ2 gene (OMIM #602235). Methods The clinical data of 24 children with KCNQ2 gene variants (NM_172107) detected by whole-exome sequencing (WES) from October 2018 to November 2022 were analyzed, and the genotypic characteristics and treatment were analyzed. Results A total of 24 children (14 boys and 10 girls) with epilepsy caused by KCNQ2 gene variations were included. The age of the first seizure in these children ranged from 17 hours after birth to 5 years old. Among them, 16 children (66.7%) were younger than 6 months. According to the clinical prognosis, there were 1 case of benign familial neonatal epilepsy (BFNE), 6 cases of benign familial infantile epilepsy (BFIE), 4 cases of self-limited epilepsy syndrome that could not be classified, and 13 cases of KCNQ2-related developmental and epileptic encephalopathy (KCNQ2-DEE). The main genetic variation was missense mutation (62.5%), and 7 new KCNQ2 mutation sites were found. Among them, c.1411C>T was evaluated as pathogenic, c.602G>C, c.1031G>A, c.2159_2173del (p.720_725delinsR) was evaluated as likely pathogenic. The median follow-up time of the 24 patients was 40 months. 13 patients had varying degrees of developmental delay in KCNQ2-DEE, and the remaining 11 patients had good overall prognosis and normal cognitive development. Conclusions The age of seizures associated with KCNQ2 variation is mainly distributed in the neonatal period and early infancy. The prognosis of KCNQ2-DEE is poor. It is recommended that genetic testing should be performed as early as possible for the diagnosis of unexplained seizures in infancy.

Objective To explore the independent risk factors of severe refractory Mycoplasma pneumoniae pneumonia (SRMPP) complicated with bronchitis obliterans in children. Methods The clinical data of children with SRMPP admitted to the Department of Pediatrics from October 2021 to October 2023 were retrospectively analyzed. All patients were divided into two groups: one group had the sequelae of bronchitis obliterans (occluded group) and the other group had not bronchitis obliterans (non-occluded group), and the differences in clinical characteristics between the two groups were compared. Multivariate logistic regression was used to analyze the independent risk factors of SRMPP complicated with bronchiolitis obliterans, and receiver operating characteristic (ROC) curve was used to analyze the predictive value of each factor for SRMPP complicated with bronchiolitis obliterans. Results A total of 110 SRMPP children (60 boys and 50 girls) with a median age of 6.0 (4.0-8.0) years were included, 40 of whom were complicated with obliterated bronchitis. Multivariate logistic regression analysis showed that increased D-dimer level and plastic mucus plugs were independent risk factors for SRMPP complicated with bronchiolitis obliterans (P<0.05), while high levels of prealbumin were independent protective factor (P<0.05). ROC curve analysis showed that the areas under the ROC curve (AUC) of D-dimer increase, prealbumin decrease and plastic mucus plugs in predicting SRMPP complicated with bronchitis obliterans were 0.69, 0.74 and 0.70, respectively. Conclusions For SRMPP children with serum prealbumin level≤13.2 mg/dL,plasma D-dimer level≥1.85 mg/L, and plastic mucus plug formation, it is necessary to be alert to the occurrence of bronchitis obliterans.

Objective To investigate the clinical characteristics and prognostic factors of children with relapsed acute lymphoblastic leukemia (ALL). Methods A total of 458 newly diagnosed ALL children who treated with the Chinese Children's Leukemia Group (CCLG) protocol at hospital between February 2006 and December 2019 were selected. Results The overall relapse rate of childhod ALL in this center was 16.6% (76/458). The mortality rate among relapsed ALL children was 57.9% (44/76), and the 5-year overall survival (OS) rate for relapsed ALL children was 38.6% ± 5.9%. Grouped by time to relapse, the cohort included 26 cases of very early relapse, 30 cases of early relapse, and 20 cases of late relapse. There was a statistically significant difference in the 5-year overall survival rate (OS) among the three groups(P<0.001). When categorized by relapse site, 57 cases involved isolated bone marrow relapse, 12 cases had extramedullary relapse, and 7 cases exhibited combined medullary/extramedullary relapse. There was a statistically significant difference in the 5-year OS rate among the three groups (P<0.05). Among the 76 relapsed children, 11 discontinued treatment, while 65 received retreatment. Among them, 14 failed to achieve a second complete remission (CR2), whereas 51 attained CR2. There was a statistically significant difference in the 5-year OS rate between the two groups (P<0.001). Based on post-relapse treatment modalities,the patients were divided into allogeneic hematopoietic stem cell transplantation (Allo-HSCT) group (22 cases, 33.8%), chimeric antigen receptor T-cell immunotherapy (CART) group (8 cases, 12.3%), CAR-T combined with Allo-HSCT group (14 cases, 21.5%), and chemotherapy and/or targeted therapy group (21 cases, 32.2%). There was a statistically significant difference in the 5-year OS rate among the groups (P<0.001). Univariate prognostic analysis revealed that initial white blood cell count>100×10⁹/L, initial risk stratification, relapse time, relapse site, post-relapse risk stratification, post-relapse treatment modality, and failure to achieve CR2 were independent risk factors affecting the prognosis of relapsed ALL children (P<0.05). Multivariate analysis using the Cox regression model identified very early relapse and failure to attain CR2 after relapse as independent risk factors for poor prognosis in relapsed ALL children (P<0.05), while post-relapse treatment with CAR-T bridging to allogeneic hematopoietic stem cell transplantation (Allo-HSCT) was a protective prognostic factor. Conclusions The predominant relapse pattern in our center was early recurrence, with bone marrow being the main relapse site. Multivariate analysis revealed that very early relapse and failure to achieve CR2 were independent adverse prognostic factors (P<0.05). CART combined with Allo-HSCT significantly improved outcomes in children with relapsed ALL.

Research conducted internationally has identified specific linguistic characteristics in the narrative abilities of children with high-functioning autism, primarily evident in phonetics, semantics, grammar, and pragmatics. These characteristics contribute to their expressive deficits and pose challenges in social interactions. This paper reviews recent studies on the narrative language features of children with high-functioning autism, both domestically and abroad, providing a theoretical foundation to enhance scientific interventions and support for autistic children whose first language is Chinese.

After the outbreak of COVID-19, the epidemiology of different pathogens causing childhood respiratory infections in different geographical regions around the world has changed, and the similar changes have occurred in China. These changes have greatly increased the difficulties in preventing and treating pediatric respiratory infections in clinical practice. Therefore, this paper aims to summarize the epidemiological changes of different pathogens in children with respiratory tract infection after the epidemic, in order to provide some ideas for the precise prevention and treatment of the disease.

Spinal muscular atrophy (SMA) is a rare autosomal recessive disease of progressive, symmetrical proximal limb and trunk muscle weakness and atrophy caused by degeneration of motor neurons in the anterior horn of the spinal cord. SMA patients are often accompanied by scoliosis, joint contracture, respiratory insufficiency, osteoporosis, restricted mouth opening, malnutrition and other damage symptoms involving multiple systems, and the treatment of the disease requires multidisciplinary intervention. Multidisciplinary diagnosis and treatment of SMA can effectively shorten the diagnostic time, improve the life quality of patients. This study, through a literature review, sorts out the development of multi-disciplinary diagnosis and treatment of SMA in disease diagnosis and treatment, and the implementation of three-level prevention and control at home and abroad in recent years, providing research basis for the future improvement of multi-disciplinary diagnosis and treatment of SMA.

Objective To summarize the clinical diagnosis and treatment process of Dieulafoy's disease in children, and explore the clinical characteristics and treatment options of the disease. Methods A retrospective analysis was conducted on the clinical data of a child with bronchial Dieulafoy disease, and relevant literature reports were summarized. Results The patient was an 11-year-old female with acute onset, presenting with cough and hemoptysis, without extrapulmonary symptoms. Bronchoscopy showed a smooth mucosal protrusion at the opening of the right middle and lower lobes, and bronchial artery embolization was considered after bronchial angiography. There was no recurrence of bleeding after bronchial artery embolization treatment. A total of 14 case reports were retrieved, including 17 children, with age of onset ranging from 8 months to 18 years, with a predominance in males. All cases presented with hemoptysis, all the lesions occurred in the right lung. Among the 16 children treated with bronchial artery embolization and/or lobectomy, there were no recurrences, except for 1 child who had hemoptysis again after two bronchial artery embolizations and right upper lobe resection, but did not have a recurrence within 1 year of conservative follow-up. Conclusion Bronchial Dieulafoy disease in childhood is rare. For children with unexplained hemoptysis, nodular elevations seen on bronchoscopy need to be carefully differentiated to avoid blind biopsy. Bronchial artery angiography plays an important role in diagnosing this disease. Bronchial artery embolization is the main treatment for children with bronchial Dieulafoy disease, and if the hemoptysis persists, a lobectomy of the bronchus and lung may be performed.

Pediatric inflammatory bowel disease (IBD) is a chronic, recurrent inflammatory condition of the intestines with unknown etiology and complex pathogenesis, posing significant challenges in diagnosis and treatment. IBD severely impacts the growth and development of affected children, diminishes their quality of life, and may negatively influence their psychological and social behavior, imposing a substantial economic burden on society. In recent years, the incidence of pediatric IBD in China has been on the rise, drawing significant attention from pediatricians. Establishing a new model of precision therapy for pediatric IBD has become a goal for pediatricians and scholars worldwide. Precision medicine has proven effective in early screening and diagnosis of cancers and neonatal genetic diseases, providing new methods and perspectives for the treatment of pediatric IBD. This paper reviews the current application of precision therapy in pediatric IBD, elucidating its role in the treatment of pediatric IBD.

Systemic lupus erythematosus (SLE) is one of the most common systemic autoimmune diseases in children. The involvement of the kidneys in systemic lupus erythematosus (SLE) is referred to as lupus nephritis (LN), which serves as a critical factor influencing the prognosis of SLE. Belimumab is a recombinant human IgG1λ monoclonal antibody targeting B-lymphocyte stimulator, which inhibits B cell function by promoting B cell apoptosis. Belimumab can improve the response index and disease activity score of SLE, and delay the progression of LN. As a clinical pediatric nephrologist, the author explores some personal advices on the treatment of LN in children with Belimumab.

Objective To explore the etiology of vertigo and dizziness in children and the characteristics of diagnosis and treatment of chronic vertigo and dizziness. Methods The clinical diagnosis and treatment data of children with vertigo and dizziness in the Vertigo Center from January 2006 to June 2024 were retrospectively analyzed. The etiology, treatment, and prognosis of chronic vertigo and dizziness in children were analyzed. Results A total of 208 children with vertigo and dizziness (115 girls and 93 boys) were included, and the median age of onset was 9.8 years (14 months to 18 years). Among them, 34 patients (16.3%) had chronic vertigo and dizziness, and the median age of onset was 12.0 (7.0-17.0) years. Among the 34 children with chronic vertigo and dizziness, 20 children (58.9%) had psychophysiological dizziness, 7 were left-behind children, 5 were from single-parent families in urban areas, 3 were from families reorganized after parental divorce, and 5 were from normal families with initial vestibular peripheral diseases. There were 5 cases of orthostatic hypotension, 3 cases of idiopathic intracranial hypertension, 2 cases of encephalitis convalescence, 2 cases of traumatic emergency disorder, and 2 cases of other causes. The prognosis of 34 patients with chronic vertigo and dizziness was good after targeted treatment according to the etiology. Conclusions The etiology and prognosis of chronic vertigo and dizziness in children are quite different from those in adults. The etiology is mainly psychogenic vertigo and the prognosis is good. A multidisciplinary approach is crucial for the diagnosis and treatment of vertigo and dizziness in children.

Objective To summarize the clinical characteristics of gastrointestinal foreign bodies in children, analyze the diagnosis, treatment, and outcomes of different types of foreign bodies, and provide references for clinical management and risk prevention of pediatric foreign body ingestion. Methods Clinical data of 614 pediatric patients with gastrointestinal foreign bodies from July 2021 to July 2024 were retrospectively collected and analyzed. Results A total of 614 cases were included, with a male-to-female ratio of 1.7:1. The mean age was 4.12 ± 3.07 years, and the highest incidence was among children aged 1-3 years (52.34%). Blunt foreign bodies with smooth and round surfaces were the most common (60.58%), followed by corrosive foreign bodies (8.47%) and other unclassifiable objects (2.12%). Among the cases, 153 (24.92%) were managed conservatively and excreted spontaneously, 442 (71.99%) were removed via endoscopy or surgical exploration, and 19 (3.09%) involved liquid ingestion. The esophagus was the most common site of impaction (48.05%). Complications occurred in 152 (24.76%) children, with mild gastrointestinal mucosal injury being the most common, followed by peptic ulcers (4.72%), gastrointestinal perforations (6.19%), corrosive injuries (1.95%), and esophageal strictures (0.65%). The occurrence of complications was not associated with gender or age (P>0.05), but was significantly related to factors such as admission interval, sharp or corrosive nature of the foreign body, location (upper vs. lower gastrointestinal tract), presence of underlying diseases, habitual residence, and symptoms at presentation (P<0.05). Risk factors for complications included sharp or corrosive foreign bodies, retention time >24 hours, location in the lower gastrointestinal tract, and symptoms at diagnosis (P<0.05). Conclusion Timely removal of gastrointestinal foreign bodies can reduce the incidence of complications. The type of foreign body significantly influences clinical management and prognosis, with particular attention needed for novel or special types of foreign bodies. Strengthening preventive care and avoiding foreign body ingestion are crucial in reducing the incidence of such cases.

Objective To assess the reliability and validity of the Chinese version of pediatric vestibular symptom questionnaire (C-PVSQ) and to establish a quantitative tool for the assessment of vestibular related dizziness or vertigo symptoms in children. Methods The PVSQ was translated into Chinese using the cross-cultural translation method. The questionnaire consisted of 10 questions, each of which was scored according to the symptoms of the children, with a total score of 30 points. A total of 85 children aged 6-17 years old with dizziness, vertigo or balance disorder who visited the clinic of Hearing Impairment and vertigo Diagnosis and Treatment Center from November 2023 to June 2024 were selected as the study objects. The reliability and validity of C-PVSQ were evaluated. Results The test-retest reliability coefficient of the total score of C-PVSQ was 0.97>0.70 (P<0.01); Cronbach α coefficient of internal consistency test was 0.83. By exploratory factor analysis, the KMO value was 0.801, and Bartlett sphericity test showed P<0.001. Factors with feature root value >1 were extracted, and three common factors were obtained, namely "dizziness factor" (questions 1 and 4), "balance factor" (questions 2, 8 and 9), and "vertigo-related symptoms" (questions 3, 6, 7 and 10), with a total cumulative contribution rate of 66.1%. Conclusions The C-PVSQ exhibits strong reliability and validity and can effectively assess symptoms and severity related to dizziness, vertigo, or balance disorders in children.

Objective To summarize the efficacy and safety of burosumab in the treatment of X-linked hypophosphatemic rickets (XLH). Methods The clinical data of a child hospitalized in the Department of Endocrinology and Metabolism in August 2022 who was treated with burosumab for XLH due to PHEX gene variation were retrospectively analyzed, and the relevant literature was reviewed. Results A 5 years and 11 months old boy was treated for "malformation of both lower limbs for 3 years with bone pain for 2 months". The blood phosphorus value at admission was 0.82 mmol/L. The X-ray examination of the bones showed cup-shaped and brush-like changes at the epiphysis of the long bones, and the changes in all the bones were consistent with the symptoms of rickets. The mother of the child had symptoms of short stature, malformation of both lower limbs with bone pain. The genetic testing found a variation of c.1282C > T, p.Gln428* in the PHEX gene in the child, which came from his mother. After treatment with burosumab, blood phosphorus value was increased, alkaline phosphatase and parathyroid hormone levels were decreased, growth rate was increased, bone pain was improved, activity tolerance was improved, bone deformities were significantly improved, and no drug-related adverse reactions occurred. Conclusions Burosumab can be used for the treatment of children with XLH due to PHEX gene variation, and it can improve several indicators and has good safety.

Objective To adapt the Tampa Scale for Kinesiophobia for use in pediatric populations with heart disease and evaluate its reliability and validity as a tool for assessing fear of exercise in this population. Methods The scale was revised based on surveys of children with heart disease, expert consultations, and preliminary surveys. From January to July 2024, the revised scale was administered to 294 children aged 7-18 years with heart disease using a convenience sampling method. Results The final scale comprised 11 items. Exploratory factor analysis extracted two factors, labeled " fear of exercise " and " avoidance tendency," which accounted for a cumulative variance of 51.241%. The overall Cronbach’s α coefficient was 0.820, and the split-half reliability was 0.782. For the subdimensions, Cronbach’s α coefficients were 0.811 and 0.820, with split-half reliabilities of 0.772 and 0.830. Conclusion The Kinesiophobia scale for children with heart disease demonstrates strong psychometric properties and is a reliable and valid tool for evaluating exercise-related fear in children aged 7-18 years with heart disease.

Objective This study aimed to explore the differences in clinical characteristics, hearing, and vestibular function test results between children with vestibular migraine (VMC) and adults with vestibular migraine (VM), in order to provide a reference for the diagnosis and treatment of VMC. Methods We retrospectively analyzed the clinical data of patients diagnosed with VMC and VM in the vertigo specialist clinic from January 2022 to July 2024 and compared the clinical features between the two groups. Results A total of 186 patients were included, comprising 92 patients with VMC (44 boys and 48 girls) with a median age of 10.0 years (range 6.3 to 13.0 years), and 94 adult patients with VM (23 males and 71 females) with a median age of 52.0 years (range 35.0 to 61.3 years). The proportion of males in the VMC group was significantly higher than that in the adult VM group (P<0.01). A significant majority of VMC patients (84.8%) had a clear family history and 81.5% had a unique personal history, both of which were significantly higher than in adult VM patients (57.4% and 63.8%, P<0.01). The abnormal rates of auditory function, positive rate of head shaking nystagmus, abnormal rate of CP value in the temperature test, and abnormal rates of cervical vestibular evoked myogenic potential and video head impulse test in VMC patients were all lower than those in VM patients, with statistically significant differences between the groups (P<0.05). Conclusions There was no significant gender difference in VMC patients, whereas adult VM patients were predominantly female. VMC patients often have a significant personal and family history. Auditory vestibular dysfunction can also occur in VMC patients, but the severity is less than in adult VM patients.

Objective To investigate the effect of multisensory stimulation on the brain function development of hospitalized preterm infants and provide references for clinical practice. Methods preterm infants with a gestational age of 30 to 33⁺⁶ weeks were randomly divided into two groups. The control group was only given routine care for preterm infants, including close observation, creating a suitable environment, maintaining warmth, and preventing infections. The intervention group received multi-sensory stimulation daily on the basis of routine care, including playing the mother's voice, touching, red ball visual stimulation, and droplet feeding of breast milk on the anterior part of the tongue. The intervention period was 14 days. Results There was no statistically significant difference between the baseline data of preterm infants and mothers in the two groups (P >0.05), and the comparison of the NBNA scores and aEEG results before and after the intervention showed statistically significant differences (P<0.05). Conclusion Multisensory stimulation for preterm infants can effectively improve the brain function development of the infants.

A 12-year-old female SLE patient with lupus nephritis (class Ⅳ) and TMA was admitted to our hospital. After treatments including blood purification, methylprednisolone and CTX pulse therapy, even belimumab infusion, she still exhibited renal dysfunction and abnormal blood tests including decreased levels in platelet count, hemoglobin and fragmented red blood cells. Further tests showed normal activity of the von Willebrand factor-cleaving protease, negative antiphospholipid antibodies, and significantly elevated soluble c5-9 levels. After initiating treatment with eculizumab, the patient's condition improved. The patient remained stable during a three-month follow-up. This case provides clinicians with insights into the treatment of SLE complicated by TMA. Early identification of complement involvement and prompt initiation of eculizumab treatment can significantly improve the patient's long-term prognosis.

Sleep disorders are one of the most common comorbidities in children with autism spectrum disorders (ASD), which not only impair the child's daytime function, but also aggravate the symptoms of ASD, and significantly reduce the quality of life of children with ASD and their families. Therefore, timely and effective intervention and management of children with ASD with comorbid sleep disorders is of great significance to improve the health, social function and quality of life of children. This article reviews the progress in the treatment of sleep disorders in children with ASD, aiming to improve the understanding of autism among clinicians.

Objective To investigate the types, clinical and imaging features and prognosis of chemotherapy-related cerebral lesion in acute lymphoblastic leukemia (ALL), so as to improve the clinicians' understanding of this kind of brain injury. Methods The clinical data of children with ALL who developed chemotherapy-related cerebral lesion after receiving chemotherapy alone from June 2015 to June 2023 were retrospectively analyzed. Results A total of 46 children (24 boys and 22 girls) with chemotherapy-related cerebral lesion were enrolled. The median onset age of ALL was 5.6(3.7-10.2) years old. The median age of children with cerebral lesion treated by chemotherapy was 6.6(4.7-10.3) years old. First cerebral lesion occurred 2.0(1.0-8.0) months after the first systemic chemotherapy, including 34 cases (73.9%) of encephalopathy, 9 cases (19.6%) of neurovascular complications, and 3 cases (6.5%) of isolated neurological symptoms. Neurological symptoms occurred in 38 children. Seizures were the most common (26 cases), followed by dizziness or headache, paralysis, visual disturbance, etc. The lesions in children with encephalopathy were mainly distributed around the lateral ventricles, semi-oval center, the parietal lobe, the occipital lobe, and the frontal lobe. The main neurovascular complications were intracranial hemorrhage and cerebral thrombosis, among which the superior sagittal sinus was the most common site of venous thrombosis.Among 38 patients with obvious neurological symptoms, 30 patients showed rapid improvement in clinical manifestations and had a good prognosis. At the follow-up of 22 months, 29 of the 32 children with neuroimaging abnormalities showed improvement after review. Conclusions The clinical and neuroimaging manifestations of ALL with chemotherapy-related cerebral lesion were diverse, and the overall prognosis was good. Few children had symptomatic epilepsy sequelae. Early neuroimaging is helpful for early detection and intervention of cerebral lesion and better optimization of ALL treatment.

Refeeding syndrome is a metabolic disorder characterized by electrolyte disorder, mainly low phosphorus, low potassium and low magnesium, and its clinical manifestations are non-specific and diverse. It is common in malnourished and severe adult patients and is also found in high-risk newborns who receive early parenteral nutrition treatment. This article reviews the physiological mechanism, risk factors, clinical characteristics, prevention and treatment of parenteral nutrition-related neonatal refeeding syndrome.

Vestibular dysfunction (VD) is commonly associated with hearing impairment in infants, underscoring the necessity for vestibular function screening and assessment. Early detection and diagnosis of VD through vestibular function screening, followed by prompt intervention and rehabilitation, are crucial for mitigating the adverse effects of VD and have significant clinical implications. This paper discusses the methods and applicability of vestibular infant screening, as well as the optimal timing for such screenings, to enhance the clinical understanding of vestibular function examination in infants.

Objective To analyze the clinical features of neonatal enterovirus infection and to explore the effect of antibiotic management improvement on reducing the use of antibiotics in children with enterovirus infection. Methods A retrospective analysis was performed on the clinical data of neonates diagnosed with enterovirus infection who were admitted to the Neonatal Department between January 2019 and December 2023. The subjects were categorized into a general infection group and a severe infection group based on the presence or absence of organ failure, and comparative analyses of clinical characteristics between the two groups were conducted. Results A total of 153 neonates with enterovirus infection were included in the study, with the peak incidence occurring from May to July. There were 94 boys and 59 girls. The gestational age was 39.3 (38.1-40.3) weeks, and the birth weight was 3200.0 (2950.0-3450.0) g. There were 35 early neonates, and the age of onset was 15.0 (8.0-23.0) days. Among all the patients, 146 had the initial symptoms of fever, 152 had fever during the course of the disease, and the course of fever was 1.8 (1.5-2.4) days. The median white blood cell count at admission was 5.0 (3.5-7.2)×10⁹/L and the median C-reactive protein level was 2.4 (0.5-7.3) mg/L. The median procalcitonin level was 0.2 (0.1-0.3) ng/mL. All 146 patients in the general infection group were discharged after improvement. Among the 7 patients with severe infection, 4 were complicated with hemorrhagic hepatitis syndrome and 2 died; 3 patients were complicated with myocarditis and 2 died. Compared with the general infection group, the infants in the severe infection group had a lower gestational age, a higher proportion of poor appetite and poor reaction during the course of the disease, lower hemoglobin and platelet counts, higher levels of lactic acid, aspartate aminotransferase, alanine aminotransferase, creatine kinase, and creatine kinase MB isoenzyme, with statistically significant differences (P<0.05). A total of 9 serotypes were detected in PCR positive samples of enterovirus, among which Coxsackie virus B3, Echovirus 12 and Echovirus 30 were the most common, accounting for 62.7%. After the implementation of antibiotic management quality improvement, the utilization rate of antibiotics was lower in neonates with enterovirus infection, and the duration of antibiotic use and hospital stay were shorter, and the differences were statistically significant (P<0.05). Conclusions The neonatal enterovirus infection is mainly mild, but the mortality of severe infection is high. There are some differences in the laboratory results between mild and severe patients. Enterovirus PCR, sequencing typing and antibiotic management improvement measures are helpful for reasonable diagnosis and treatment.

Objective By analyzing the event related potentials (ERPs) of vertigo and normal children, this study aims to explore the effects of vertigo on cognitive function in children, and provide theoretical guidance for clinical intervention. Methods The children aged 6 to 17 years old who presented with symptoms of dizziness, vertigo, and balance disorders at hearing impairment and vertigo diagnosis and treatment center were selected from January to August 2024 as the study subjects (vertigo group), and healthy children of similar age during the same period were selected as the control group. Both groups underwent auditory Oddball paradigm stimulation, and event-related potential (ERPs) components, including P1, N1, P2, N2, and P3, were recorded. The latency and amplitude differences of each component were compared between the two groups. Results There were 33 children (14 boys and 19 girls) in vertigo group, and the average age was (10.2±2.7) years. The control group consisted of 16 children (12 boys and 4 females), with an average age of (9.8±2.5) years. The amplitudes of N1 and N2 in the vertigo group were significantly lower than those in the control group, with statistical significance (P<0.05), while the amplitudes of residual components and latency of all components between the two groups had no statistical significance (P>0.05). The latency and amplitude of all ERPs components in vertigo group and control group had no significant correlation with age (P>0.05). Conclusions Vertigo in children affects their cognitive function, primarily in the early stages of perception and cognitive control, with less impact on higher cognitive processing, indicating that children with vertigo may reduce perception, conflict processing, and cognitive control abilities.

Objective The aim of this study was to explore the clinical and genetic characteristics of 7 pediatric patients with neurodegeneration with brain iron accumulation (NBIA). Methods Genetic mutation analysis was conducted on patients suspected of having NBIA using whole exome sequencing (WES), followed by Sanger sequencing for positive cases. A retrospective analysis of the patients' clinical data was performed alongside a literature review. Results Seven patients, comprising five boys and two girls with an average age of 5.4±3.8 years, presented to the hospital primarily due to motor developmental delay. The main clinical manifestations included intellectual disability, gait disorders, abnormal posture, delayed or regressed psychomotor development, muscle weakness, cerebellar ataxia, and retinitis pigmentosa. WES identified pathogenic mutations in NBIA-related genes in all 7 patients, specifically PANK2 in one case, FA2H in one case, and PLA2G6 in five cases. Patients with PLA2G6 variations exhibited early onset, developmental delay, muscle weakness, low signal iron deposition in the pallidus, and cerebellar atrophy. The patient with a PANK2 gene mutation showed gait and postural abnormalities, while the patient with an FA2H mutation presented with language delay, gait abnormalities, and dysmyotonia. Conclusion There is significant heterogeneity in the clinical phenotype of NBIA patients, with neurological abnormalities being the predominant feature. Two previously unreported variants were identified, broadening the spectrum of genetic variations in NBIA disease.