Journal of Clinical Pediatrics

Clinical diagnosis and treatment of spinal muscular atrophy with scoliosis

YANG Junlin, SUI Wenyuan, ZHANG Tianyuan

Journal of Clinical Pediatrics. 2022, 40(3): 161-164. doi:10.12372/jcp.2022.21e0061

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Spinal muscular atrophy (SMA) is a severe neuromuscular disease characterized by the degeneration of α motor neuron in the spinal cord and progressive proximal muscle weakness. It will also cause other multisystem diseases such as skeletal system, respiratory system and digestive system with the development of the disease process. Among them, scoliosis is the commonest orthopaedic complication. This article introduces the natural history of SMA combined with scoliosis, as well as the conservative treatment and surgical treatment methods for different degrees of scoliosis, and focuses on the significance of preoperative evaluation of multidisciplinary team and the surgical strategies of severe scoliosis. The purpose is to provide a clinical algorithm for reference about the precise surgical treatment of SMA combined with scoliosis.

Diagnosis and treatment of spinal muscular atrophy in China in the era of precision medicine

MAO Shanshan

Journal of Clinical Pediatrics. 2022, 40(3): 165-169. doi:10.12372/jcp.2022.22e0022

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Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disease, which is caused by the lack of SMN protein due to the deletion/variation of the survival motor neuron gene (SMN) 1 gene. Its clinical manifestations are progressive muscular atrophy and muscle weakness, often accompanied by damage to multiple system organs such as respiration, digestion, nutrition and orthopedics, etc., and it is a serious fatal and disabling genetic disease. In 2018, SMA was included in the National List of the First Batch of Rare Diseases. The development of precision medicine has witnessed unprecedented progress in the treatment of SMA, and China has also had two disease-modifying treatment drugs used in clinical practice. In recent years, domestic and foreign diagnosis and treatment consensuses have put forward new norms for the standardized care of SMA, with particular emphasis on the entire course of disease management based on the collaboration diagnosis and treatment of multi-disciplinary team. The new advances in precise diagnosis and treatment and individualized management of SMA in the era of drug therapy will bring better prospects for the development of SMA in China.

Precision treatment in pediatric epilepsy

SHI Xiuyu, HU Linyan, HAN Fang, ZOU Liping

Journal of Clinical Pediatrics. 2022, 40(3): 170-176. doi:10.12372/jcp.2022.21e1721

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Epilepsy is one of the commonest and the most devastating neurological diseases in childhood, and antiepileptic drugs are the main treatment method. In the past few decades, because the causes of epilepsy were not well understood, drug selection was largely based on the type of seizure, treating only the symptoms rather than the root causes. In recent years, with new tools and means, the diagnosis of the cause of epilepsy has dramatically improved, and the treatment for the cause can achieve the purpose of treating both the symptoms and root causes. The treatment of childhood epilepsy is entering the era of precision treatment. According to the new classification of epilepsy causes published in 2017 by International League Against Epilepsy (ILAE), this paper summarizes new available tests for making diagnoses in each of the etiological categories in the ILAE classification and the corresponding precision treatment.

Update on the progress in diagnosis and treatment of benign epilepsy of childhood with centrotemporal spikes

FAN Yuying, LIU Xueyan, WANG Hua

Journal of Clinical Pediatrics. 2022, 40(3): 177-183. doi:10.12372/jcp.2022.22e051

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Benign epilepsy of childhood with centrotemporal spikes (BECT) is the commonest focal epilepsy syndrome in children. The pathogenesis of BECTS involves the interaction of complex polygenes and environmental factors, presenting a pattern of multifactorial inheritance. BECTS can evolve into atypical BECTS, both of which can be combined with electrical status epilepticus during slow wave sleep (ESES). The treatment of BECTS requires consideration of multiple factors and individualized risk-benefit assessment to determine the best treatment regimen. Early recognition and diagnosis of BECTS comorbid cognitive impairment should be emphasized. Attention deficit hyperactivity disorder (ADHD) is the commonest childhood psychobehavioral comorbidity of BECTS. Formal treatment of BECTS comorbid ADHD should be initiated as soon as possible. There are still many problems and challenges in the clinical diagnosis and treatment of BECTS. This article will review the recent progress in the diagnosis and treatment of BECTS, aiming to provide reference for the clinical diagnosis and treatment of BECTS and improve the life quality of children with BECTS.

Immunization strategy for children with nervous system diseases

HU Dandan

Journal of Clinical Pediatrics. 2022, 40(3): 184-188. doi:10.12372/jcp.2022.21e0028

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Children with neurological diseases have many types and complex conditions, and the difficulty in immunization of children with neurological diseases is prominent. This article elaborates on the current status of immunization for children with neurological diseases, the neural responses associated with immunization, the risk and prognosis of immunization in children with neurological diseases, the contraindications to immunization in children with neurological diseases, and the immunization strategies for children with different neurological diseases. It is emphasized that children with neurological diseases in the stable phase can be vaccinated with various vaccines, and that vaccine-related neurological reactions are extremely rare.

Analysis of clinical phenotype and genotype in 171 children with Duchenne muscular dystrophy

FANG Hongjun, YANG Sai, KUANG Xiaojun, JIANG Zhi, ZHOU Zhen, WANG Lijuan, WU Liwen, YANG Liming, LIU Shulei, LIAO Hongmei

Journal of Clinical Pediatrics. 2022, 40(3): 189-195. doi:10.12372/jcp.2022.21e0624

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Objective To investigate the characteristics of clinical phenotype and genotype in children with Duchenne muscular dystrophy (DMD). Methods The clinical data of 171 children diagnosed with DMD by clinical and genetic tests from January 2014 to June 2020 were collected, and the clinical manifestations and genetic variation results were analyzed. Results The median age of 171 DMD children (165 boys and 6 girls) was 4.1 (1.7-7.0) years. Among them, 21 children were younger than 1 year old, 41 children were 1-3 years old, 65 children were 3-7 years old, and 44 children were 7-13 years old. The main clinical manifestations of 171 children were motor development retardation, increased muscle enzymes and limb weakness. The first visit to the neurology department of the infants and young children was mainly due to the elevated muscle enzymes (including creatine kinase, creatine kinase isoenzyme and lactate dehydrogenase). Compared with the young children group, the infant group had a higher proportion of first visits to the neurology department due to increased muscle enzymes, and a lower proportion of visits due to motor development retardation, with statistically significant differences (P<0.05). Hormone therapy improved the condition of most children. DMD genes were mostly largely deletions (111 cases, 64.9%) by high-throughput sequencing techniques. There were 26 cases (15.2%) with large duplication variations and 34 cases (19.9%) with point variations. The variation could occur anywhere in the gene, but there were two deletion hotspots, which were located in the central exon 45-52 region (76 cases, accounting for 68.5% of the large deletion variations) and in the exon 2-28 region of 5' end (21 cases, accounting for 18.9% of the large deletion variations). Conclusions Increased muscle enzymes and limb weakness are the main clinical manifestations of DMD children, and genetic testing should be conducted in time if abnormalities are found. Understanding the clinical manifestations and genotype characteristics of DMD is very important for its prevention, management and treatment.

Detection of mTORC1 signaling pathway activity and treatment in 19 children with tuberous sclerosis and refractory epilepsy

HE Yingzhong, LI Song, YAO Ruen, WANG Jiwen

Journal of Clinical Pediatrics. 2022, 40(3): 196-201. doi:10.12372/jcp.2022.21e0800

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Objective To detect mTORC1 signaling pathway activity in patients with tuberous sclerosis (TSC) and refractory epilepsy, and to evaluate the patients’ response to different concentrations of rapamycin. Methods The clinical data of 19 children with TSC and refractory epilepsy from May 2019 to October 2020 were collected. The mTORC1 signaling pathway activity of blood cells was analyzed and the blood concentration of rapamycin was measured to evaluate the therapeutic effect. Results The age of 19 children (11 boys and 8 girls) ranged from 8 months to 13 years with a median age of 6 years. TSC gene was detected in 19 children, and TSC1 variation was found in 4 children and TSC2 variation in 12 children. Among them, there were 6 cases of nonsense variation, 4 cases of frameshift variation, 4 cases of missense variation and 2 cases of splicing site variation. The mTORC1 activity of patients was higher than that of normal controls. After maintenance treatment with rapamycin, the blood drug concentration fluctuated from 3.0 to 10.7ng/mL, and the average concentration was (6.87±2.01) ng/mL. After at least 6 months of follow-up, convulsion was controlled in 12 cases, and the frequency of convulsion was reduced by more than 50% in 7 cases. There was no correlation between blood drug concentration and convulsion control. By monitoring the activity of mTORC1 in peripheral blood to adjust the drug dose, it was found that the blood drug concentration of 6 children with convulsion control was lower than the average concentration (6.87ng/mL). Conclusion The blood concentration of rapamycin fluctuates greatly, and the dosage adjustment solely depends on the blood concentration change cannot satisfy the individualized precision drug use program. Combined with mTORC1 activity determination, convulsion control and side effects of the drug make it easier for clinicians to evaluate therapeutic effect in patients in real time, and can be used as a reference basis for the use of rapamycin in the treatment of mTOR spectrum diseases.

A study of multi-frequency neuromagnetic brain activities in children with eyes-open and eyes-closed

FAN Yuying, XIANG Jing, LIU Xueyan, WANG Hua

Journal of Clinical Pediatrics. 2022, 40(3): 202-207. doi:10.12372/jcp.2022.21e0872

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Objective To investigate the characteristics of brain activities within multi-frequency ranges in the developing brain during eyes-open and eyes-closed. Methods The magnetoencephalography (MEG) data were recorded from 24 healthy children during eyes-open and eyes-closed. The MEG sources were localized with accumulated source imaging and analyzed in multi-frequency bands, including delta (1-4 Hz), theta (4-8 Hz), alpha (8-12 Hz), beta (12-30 Hz), low-gamma (30-55 Hz) and high-gamma (65-90 Hz). Results Twenty-four subjects (14 boys and 10 girls) were enrolled, and the average age was (10.3±2.4) years. Compared with eyes-open, the absolute source power of alpha and beta activities during eyes-closed was increased in children, and the difference was statistically significant (P<0.01). Compared with eyes-open, the relative source power of alpha and beta activities was increased (P<0.01), while the relative source power of delta, low-gamma and high-gamma activities was decreased during eyes-closed in children, and the differences were statistically significant (P<0.05). There was no significant difference in the source location distribution of each frequency band between eyes-open and eyes-closed in children (P>0.05). Conclusions The brain activity varies significantly over a wide frequency range between eyes-open and eyes-closed in children. Eye closure can regulate brain physiological activity in a wide range of frequencies. The differences in baseline conditions between eyes-closed and eyes-open should be considered in MEG or EEG studies.

Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review

LUO Zhiqiang, LU Xinguo, LIU Liqin, LIAO Jianxiang

Journal of Clinical Pediatrics. 2022, 40(3): 208-211. doi:10.12372/jcp.2022.21e1539

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To explore the clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy (SMA). The relevant clinical data, from a baby with presymptomatic 5q SMA were retrospectively collected, and a comprehensive analysis was made based on the existing literature. A 10-month-old girl got MLPA examination after birth because of the family history of SMA, and the results showed the homozygous deletions of SMN1 gene exon 7 and 8 and two copies of SMN2 gene. Physical examination showed that she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Five doses of nusinersen have been treated by intrathecal injection according to the medication plan, and no adverse reactions have been observed. The milestones of motor development are basically normal. It is suggested that nusinersen treatment during the presymptomatic stage can achieve the best effect in children with 5q SMA, and the motor development milestone is expected to reach the normal level.

A rare case of children with compound heterozygous variant of spinal muscular atrophy

YAO Mei, FENG Yijie, XIA Yu, ZHOU Dongming, JIN Jianing, WEI Jia, CUI Yiqin, MAO Shanshan

Journal of Clinical Pediatrics. 2022, 40(3): 212-217. doi:10.12372/jcp.2022.21e1726

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Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease. Conventional genetic testing cannot detect the silent carriers, which can easily lead to the delay of diagnosis and increase the burden of family and society. A 2-month-old male proband was born with a weak crying and weakness of the limbs. The electromyography indicated that there was an anterior horn cell lesion in the spinal cord. The diagnosis and genetic characteristics of the family were confirmed by multiplex ligation-dependent probe amplification, long-fragment PCR amplification and linkage analysis. The result suggested that the child had a "1^d +0" type of compound heterozygous variant of SMN1 gene (1^d: c.22_23insA). The mother had a "1+1^d" genotype and the father was a silent carrier with a "2+0" genotype. This genetic pattern has not been reported so far. A healthy female child was born in this family after following the guidance of genetic counseling. The presence of silent carriers will increase the rate of missed diagnosis in patients with SMA. Screening for silent carriers is conducive to early and accurate diagnosis of the disease and can avoid the birth defects.

The relationship between serum insulin level and prognosis in children with sepsis associated encephalopathy

KANG Xiayan, ZHANG Xinping, FAN Jianghua, SONG Yulei, ZHOU Xiong, CAO Jianshe, HE Jie, XIAO Zhenghui

Journal of Clinical Pediatrics. 2022, 40(3): 218-223. doi:10.12372/jcp.2022.21e1179

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Objective To investigate the relationship between serum insulin level and the severity and prognosis of sepsis associated encephalopathy (SAE) in children. Methods The clinical data of children with sepsis admitted to the children's critical care unit from January 2019 to December 2020 were retrospectively analyzed. According to the score of confusion assessment method for the ICU (CAM-ICU) or EEG results, the children were divided into SAE group and non-SAE group, and then SAE group was divided into mild to moderate group and severe group. Clinical indicators were compared among different groups. Results A total of 47 children (28 boys and 19 girls) were included and the median age was 24 (12-45) months. The primary sources of infection were respiratory system (21 cases), digestive system (15 cases), urinary system (3 cases) and other systems (8 cases). There were 25 cases in the non-SAE group and 22 cases in the SAE group, including 16 cases in the mild to moderate SAE group and 6 cases in the severe SAE group. Thirty-one children survived and 16 died. Hyperinsulinemia occurred in 18 children (38.3%) within 24 hours after admission. Compared with non-SAE group, SAE group had higher serum insulin, S100β protein and procalcitonin (PCT) levels, higher incidence of hyperinsulinemia, and lower Glasgow Coma Scale, and the differences were statistically significant (P<0.05). There was significant difference in serum insulin levels at admission among non-SAE group, mild to moderate SAE group and severe SAE group (P<0.05), of which the severe SAE group had the highest level of serum insulin. Serum insulin level was positively correlated with S100β level (r_s=0.53, P<0.001) and negatively correlated with Glasgow Coma Scale (r_s =-0.59, P<0.001). Compared with the survival group, the incidence of hyperinsulinemia and serum insulin level in the death group were significantly higher (P<0.05). Conclusion Hyperinsulinemia has a high incidence in children with SAE. Dynamic monitoring of serum insulin level is of great clinical significance to evaluate the prognosis of children with SAE.

Risk factors of death in congenital diaphragmatic hernia

CUI Tiantian, XIE Wei, RAO Weiwei, XIA Hao

Journal of Clinical Pediatrics. 2022, 40(3): 224-228. doi:10.12372/jcp.2022.21e0952

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Objective To investigate the death risk factors of congenital diaphragmatic hernia (CDH). Methods The clinical data of children with CDH admitted from January 2017 to February 2021 were collected to analyze the risk factors for death of children with CDH. Results A total of 68 children (42 boys and 26 girls) with CDH were included. The median gestational age was 39.0 (37.5~39.4) weeks, the average birth weight was (2996.9±549.8) g, the PICU hospital stay was 19.2 (5.3-28.0) days and the invasive ventilation duration was 9.1 (3.9-13.9) days. There were 23 cases (33.8%) in the death group and 45 cases in the survival group. Fifty-nine cases underwent surgery, and 14 cases died after operation (23.7%). There were 54 cases of left diaphragmatic hernia and 14 cases of right diaphragmatic hernia. Compared with the survival group, the death group had smaller gestational age, lower birth weight, shorter PICU hospitalization and invasive mechanical ventilation time, lower observed/expected lung to head ratio, lower pH value, higher proportion of low Apgar scores (1-minute Apgar score ≤7) and liver herniation, higher pulmonary artery pressure and oxygenation index (OI), and the differences were statistically significant (P<0.05). Binary logistic regression analysis showed that OI and hepatic herniation were independent risk factors for death of CDH children (P<0.05). Conclusions CDH has a higher mortality and the risk of death increases with the increase of OI. Children with liver herniation had increased risk of death.

Expert consensus on case reporting for rare diseases

Editorial Board of Journal of Clinical Pediatrics

Journal of Clinical Pediatrics. 2022, 40(3): 229-234. doi:10.12372/jcp.2022.22e0186

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Objective To develop a publication check list to improve the quality of rare disease case reporting. Methods Through literature review, 14 sections and 48 items of the alternative publication list for rare disease case reports were formulated. The experts were back-to-back consulted on the items of the alternative publication list. Results A total of 65 consultation sheets for expert opinion were issued by the real-name system, and 52 valid expert opinions were received within a limited period of time. Based on the combined summary of the CARE list and the results of expert opinions, 13 sections and 33 items of publication check list for rare disease case reporting were formed, which were the minimum publication requirements for rare disease case reporting. Conclusions Authors and editors should check this consensus publication check list when reporting rare diseases and pay attention to the scientificity, integrity, and transparency of reports so as to provide readers with more valuable information.

Research progress in nutritional management of children with spinal muscular atrophy

WANG Wenqiao, MAO Shanshan, MA Ming

Journal of Clinical Pediatrics. 2022, 40(3): 235-240. doi:10.12372/jcp.2022.21e1244

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Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by variation in survival motor neuron 1 (SMN1) gene. Due to poor muscle reserves, low physical activity, digestive symptoms and dysphagia, the incidence of undernutrition and overnutrition in SMA children is often significantly higher than that in normal children. Therefore, nutritional management is essential for children with SMA. This paper reviewed the nutritional evaluation, related nutritional problems and nutritional intervention for SMA children.

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