Children, as a special vulnerable group, are more susceptible to severe physical injury and psychological trauma in an earthquake. The Pediatric Disaster Branch of Chinese Pediatric Society of Chinese Medical Association and the Pediatric Branch of Chinese People's Liberation Army formulated the expert consensus on on-site medical rescue and transfer of children in an earthquake. The consensus introduces the treatment principles and precautions of on-site treatment and subsequent transfer for children in an earthquake, in order to better serve children in this emergency.
There is a widespread shortage of physicians worldwide, especially in rural areas. This shortage is more prevalent when it comes to subspecialty care, even in developed countries. One way to provide access to specialty care is using technology via telemedicine. Telemedicine has evolved over the last two decades, and its use is becoming widespread in developed countries. However, its use in the neonatal population is still limited and practiced only in some centers. It is now apparent that telemedicine can be successfully used in the neonatal population for screening premature infants for retinopathy of prematurity, congenital heart disease, bedside clinical rounds, neonatal resuscitation with the support of a tertiary care hospital, and family support. This avoids unnecessary transfer and appears to provide the same quality of care that the baby would have received at the tertiary care facility. This approach also improves family satisfaction, as the baby and the mother are kept together, and reduces the cost of care. This review focuses on the use of telemedicine in neonatal care, concentrating on the main areas where telemedicine has been shown to be successful and effective, including the status of telemedicine in China.
Since the outbreak of coronavirus disease 2019 (COVID-19) in Wuhan, China, the public-facility-turned temporary hospital (PFTH) has played an important role in preventing the spread of the epidemic. Wuchang PFTH is the first one to put into clinical practice and the last one suspended in Wuhan. The National Emergency Medical Rescue Team of the Second Xiangya Hospital of Central South University, together with other 13 medical teams (841 medical staff in total), have fulfilled the task for the treatment of non-severe COVID-19 patients, without any medical staff infected. The first author of the article was the only pediatrician working in the Wuchang PFTH. The author describes and summarizes the features/functions, management/operations, and advantages/challenges of the PFTH, in order to provide reference for medical institutions and relevant departments to deal with public health emergencies.
Objective To study the clinical and epidemiological features of children with asymptomatic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Methods The clinical data of 20 children who were diagnosed with asymptomatic SARS-CoV-2 infection from January 20 to March 4, 2020 were analyzed. Results Among the 20 children, there were 7 boys (35%) and 13 girls (65%), aged 8 months to 14 years (mean 8±5 years). All these children had no clinical manifestations and attended the hospital for an epidemiological history of SARS-CoV-2. Nineteen children were shown with family aggregation of SARS-CoV-2 infection. Nasopharyngeal swabs were PCR-positive for SARS-CoV-2 in all 20 children. There were 4 children (20%) of mild type, 16 children (80%) of common type, and no children of severe type or critical type. The mean peripheral blood leukocyte count was (6.8±3.5)×109/L, and 7 children had an abnormal peripheral blood leukocyte count, with an increase in 5 children and a reduction in 2 children. One child had a decreased absolute value of lymphocytes (0.87×109/L), 3 children had an increased erythrocyte sedimentation rate (20-42 mm/h), 7 children had an increased lactate dehydrogenase level (> 400 U/L), and 4 children had an increased blood lactate level (> 1.6 mmol/L). Chest CT showed single or multiple small nodule shadows, patchy shadows, and ground-glass shadows in the middle or lateral lobe of lungs or under the pleura in 13 children. Conclusions Pediatric cases of asymptomatic SARS-CoV-2 infection mostly occur with family aggregation. Most of the children with asymptomatic infection have no obvious abnormalities in blood routine and other laboratory tests. Changes in chest CT scan can be used as an aid for early diagnosis of asymptomatic infection in children.
Objective To study the clinical features of coronavirus disease 2019 (COVID-19) in children aged < 18 years. Methods A retrospective analysis was performed from the medical data of 23 children, aged from 3 months to 17 years and 8 months, who were diagnosed with COVID-19 in Jiangxi, China from January 21 to February 29, 2020. Results Of the 23 children with COVID-19, 17 had family aggregation. Three children (13%) had asymptomatic infection, 6 (26%) had mild type, and 14 (61%) had common type. Among these 23 children, 16 (70%) had fever, 11 (48%) had cough, 8 (35%) had fever and cough, and 8 (35%) had wet rales in the lungs. The period from disease onset or the first nucleic acid-positive detection of SARS-CoV-2 to the virus nucleic acid negative conversion was 6-24 days (median 12 days). Of the 23 children, 3 had a reduction in total leukocyte count, 2 had a reduction in lymphocytes, 2 had an increase in C-reactive protein, and 2 had an increase in D-dimer. Abnormal pulmonary CT findings were observed in 12 children, among whom 9 had patchy ground-glass opacities in both lungs. All 23 children received antiviral therapy and were recovered. Conclusions COVID-19 in children aged < 18 years often occurs with family aggregation, with no specific clinical manifestation and laboratory examination results. Most of these children have mild symptoms and a good prognosis. Epidemiological history is of particular importance in the diagnosis of COVID-19 in children aged < 18 years.
This article reports the diagnosis and treatment of two children with coronavirus disease 2019 (COVID-19) and hypertension. Case 1 was a boy aged 13 years and 3 months, with the main manifestations of fever and dry cough; chest CT showed ground-glass opacities, and the nucleic acid test of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) yielded a positive result. Case 2 was a boy aged 13 years and 8 months and had no clinical symptoms; chest CT showed no abnormality, while the nucleic acid test of SARS-CoV-2 yielded a positive result. Both cases were shown with family aggregation of SARS-CoV-2 infection. They had obesity and a family history of hypertension. Continuous blood pressure monitoring in the resting state during hospitalization showed that blood pressure was above the 95% reference interval of normal value for children of the same age, and the two boys were given calcium channel blockers or β-receptor blockers and were then recovered. It is concluded that comprehensive management of children with COVID-19 and underlying cardiovascular diseases, including hypertension, should be taken seriously during the epidemic.
Objective To study the clinical features of severe type 7 adenovirus pneumonia in children. Methods A retrospective analysis was performed for the clinical data of children who were diagnosed with severe type 7 adenovirus pneumonia from February to June, 2019. Results Among the 45 children, the male/female ratio was 3:2 and the median age was 14 months. All children had repeated fever, cough, and pulmonary moist rales, and the mean duration of fever was 14±4 days. The median time from fever to dyspnea was 8 days, and the time from fever to mechanical ventilation was 11.6±2.5 d. There was no significant increase in white blood cell count, with neutrophils as the main type. There were slight reductions in hemoglobin and albumin, while platelet and fibrinogen remained normal. There were increases in aspartate aminotransferase, lactate dehydrogenase, procalcitonin, and C-reaction protein. The detection rate of mixed pathogens was 84%. Effusion in both lungs was the major change on chest imaging (64%). Bronchoscopic manifestations were endobronchitis, tracheomalacia, and plastic bronchitis. The incidence rate of respiratory complications was 100%, and extrapulmonary complications mainly involved the circulatory system (47%), digestive system (36%), and nervous system (31%). Among the 45 children, 16 were administered with 400 mg/kg intravenous immunoglobulin (IVIG) daily for 5 days, with a mean duration of fever of 16±5 days, and 29 were administered with 1 g/kg IVIG daily for 2 days, with a mean duration of fever of 13±4 days; there was a significant difference in the mean duration of fever between the two groups (P=0.046). The overall mortality rate was 11%. Conclusions Severe type 7 adenovirus pneumonia in children has severe conditions, with a high incidence rate of complications and a high mortality rate, so it should be diagnosed and treated as early as possible.
Objective To study the effect and safety of vacuum stretcher combined with feeding in cranial magnetic resonance imaging (MRI) examination for neonates. Methods A prospective study was performed for the neonates with hyperbilirubinemia, with a gestational age of > 34 weeks and stable vital signs, who needed cranial MRI examination and did not need oxygen inhalation hospitalized in the Department of Neonatology, Children's Hospital of Zhejiang University School of Medicine, from September to November, 2019. The neonates were randomly divided into a vacuum stretcher combined with feeding group and a conventional sedation group. Vital signs were monitored before, during, and after MRI examination. The success rate of MRI procedure was recorded. Results A total of 80 neonates were enrolled in the study, with 40 neonates in the vacuum stretcher combined with feeding group and 40 in the conventional sedation group. The vacuum stretcher combined with feeding group had a significantly higher success rate of MRI procedure than the conventional sedation group (P < 0.05). As for the neonates who underwent successful MRI examination, the fastest heart rate after examination in the vacuum stretcher combined with feeding group was significantly lower than that in the conventional sedation group (P < 0.05), while there were no significant differences between the two groups in transcutaneous oxygen saturation, respiratory rate, and body temperature before and after MRI examination (P > 0.05). No complications, such as apnea, acute allergic reactions, and malignant fever, were observed. Conclusions Vacuum stretcher combined with feeding can improve the success rate of MRI procedure and reduce the use of sedatives, and meanwhile, it does not increase related risks.
Objective To compare intranasal midazolam and intramuscular phenobarbital sodium for their sedative effect in neonates undergoing magnetic resonance imaging (MRI). Methods A total of 70 neonates who underwent cranial MRI from September 2017 to March 2019 were randomized into an observation group and a control group, with 35 cases in each group. The observation group received intranasal drops of midazolam (0.3 mg/kg), and the control group received intramuscular injection of phenobarbital sodium (10 mg/kg). The sedation status of the neonates was evaluated using the Ramsay Sedation Scale. Meanwhile, the two groups were compared for the success rate of MRI procedure and incidence of adverse reactions. Results In the observation group, the sedation score was the highest at 20 minutes post administration, then was gradually decreasing, and decreased to the lowest level at 70 minutes post administration. In the control group, the sedation score was the lowest at 10 minutes post administration, then was gradually increasing, and increased to the highest level at 40 minutes and 50 minutes post administration, followed by a gradual decrease. Comparison of the sedation score at each time period suggested that the sedation score was significantly higher in the observation group than in the control group within 40 minutes post administration (P < 0.05), while there were no significant differences between the two groups in the sedation score after 40 minutes post administration (P > 0.05). The success rate of MRI procedure was significantly higher in the observation group than in the control group (89% vs 69%, P < 0.05). There was no significant difference between the two groups in the incidence of adverse reactions (P > 0.05). Conclusions Intranasal midazolam is superior to intramuscular phenobarbital sodium in the sedative effect in neonates undergoing MRI, with the benefits of being fast, convenient, safe, and effective.
Objective To assess the efficacy and safety of fluconazole in the prophylaxis of invasive fungal infection in very low birth weight (VLBW) infants. Methods Databases including PubMed, Embase, the Cochrane Library, Wanfang Data, Weipu, and CNKI were searched for randomized controlled trials (RCTs) of prophylactic fluconazole in VLBW infants. Review Manager 5.3 software was used to perform a Meta analysis of the included studies. Results A total of 12 RCTs were included, involving 1 679 VLBW infants. The Meta analysis showed that prophylactic fluconazole significantly reduced the incidence of invasive fungal infection (RR=0.44, 95%CI:0.27-0.71, P < 0.001), the incidence of fungal colonization (RR=0.31, 95%CI:0.24-0.40, P < 0.001), and the mortality during hospitalization (RR=0.74, 95%CI:0.58-0.94, P=0.01) compared with the control group. There were no significant differences between VLBW infants using different doses of fluconazole in the incidence of invasive fungal infection and fungal colonization (P > 0.05). No significant differences were found in the incidence of fluconazole resistance and complications between the fluconazole and control groups (P > 0.05). Conclusions Prophylactic fluconazole can effectively and safely prevent invasive fungal infection in VLBW infants, even at a small dose.
Objective To study the gene distribution characteristics of neonatal thalassemia in Dongguan, China and the changing trend of the gene distribution characteristics of neonates with thalassemia in Dongguan in 2014-2018. Methods A retrospective analysis was performed for the data on neonatal thalassemia screening from the Dongguan Neonatal Disease Screening System between January 2014 and December 2018. A total of 616 718 neonates were enrolled who were born in Dongguan. Results Among the 616 718 neonates, 52 308 were positive for primary screening, 10 366 were recalled, 8 576 underwent genetic diagnosis, and 6 432 were confirmed with thalassemia by genetic diagnosis. The carrying rates of thalassemia genes in 2014-2018 were 5.81%, 5.47%, 5.96%, 6.91%, and 7.90% respectively, and showed an upward trend (P < 0.001). The positive rates of neonatal thalassemia screening in 2014-2018 were 9.12%, 8.34%, 7.54%, 8.13%, and 9.32% respectively (P < 0.001). The positive rates of genetic diagnosis of neonatal thalassemia in 2014-2018 were 0.89%, 1.11%, 1.24%, 0.90%, and 1.09% respectively (P < 0.001). In 2014-2018, 5 098 cases of α-thalassemia were detected, accounting for 79.26% of all cases, and 1 230 cases of β-thalassemia were detected, accounting for 19.12% of all cases. The detection rate of α-thalassemia was significantly higher than that of β-thalassemia in each year (P < 0.001). In 2014-2018, static α-thalassemia, mild α-thalassemia, and mild β-thalassemia were the main types observed in neonates. Conclusions Most of the neonates with thalassemia have α-thalassemia in Dongguan, with static α-thalassemia and mild α-thalassemia as the main types. The carrying rate of thalassemia genes keeps increasing in neonates in Dongguan, and the prevention and treatment of thalassemia is still challenging.
Objective To study the clinical features and genetic mutations of children with Shwachman-Diamond syndrome (SDS) and malignant myeloid transformation. Methods Next-generation sequencing was used to analyze the gene mutations in 11 SDS children with malignant myeloid transformation, and their clinical features and genetic mutations were analyzed. Results Of the 11 children with SDS, 9 (82%) presented with refractory cytopenia of childhood (RCC), 1 (9%) had myelodysplastic syndrome with excess blasts (MDS-EB), and 1 (9%) had acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). The median age of onset of malignant myeloid transformation was 48 months (ranged 7 months to 14 years). Of the 11 children, 45% had abnormalities in the hematological system alone. Mutations of the SBDS gene were detected in all 11 children, among whom 5 (45%) had c.258+2T > C homozygous mutation and 3 (27%) had c.184A > T+c.258+2T > C compound heterozygous mutation. The new mutations of the SBDS gene, c.634_635insAACATACCTGT+c.637_638delGA and c.8T > C, were rated as "pathogenic" and "possibly pathogenic" respectively. The 3-year predicted overall survival rates of children transformed to RCC and MDS-EB/AML-MRC were 100% and 0% respectively (P=0.001). Conclusions SDS children may have hematological system symptoms as the only manifestation, which needs to be taken seriously in clinical practice. The type of malignant transformation is associated with prognosis.
Objective To compare the efficacy of the CAMS-2005 and CAMS-2009 regimens in treating children with non-core binding factor acute myeloid leukemia (non-CBF AML) and to study the prognosis factors. Methods A total of 161 children who were initially diagnosed with non-CBF AML from April 2005 to December 2015 were enrolled as study subjects, and were divided into a CAMS-2005 regimen group (n=52) and a CAMS-2009 regimen group (n=109) according to the chemotherapy regimen provided. The efficacy was retrospectively compared between the two groups. Results The complete remission (CR) rate at the first course of treatment was higher in the CAMS-2009 regimen group than that in the CMAS-2005 regimen group (63.3% vs 46.2%; P < 0.05). There were no significant differences between the two groups in treatment-related mortality rate (11.9% vs 17.3%), recurrence rate (27.5% vs 28.8%), and three-year overall survival (OS) rate (44%±5% vs 28%±6%) (P > 0.05). Children who achieved CR at the first course of treatment had significantly higher OS and event-free survival rates than those who did not achieved CR (P < 0.01). Conclusions The CAMS-2009 regimen is superior to the CAMS-2005 regimen in improving the CR rate in children with non-CBF AML after induction treatment. Whether CR is achieved at the first course of treatment can affect the OS rate of children with non-CBF AML.
Objective To study the role of follicular helper T (Tfh) cells and galactose-deficient IgA1 (Gd-IgA1) in the pathogenesis of childhood Henoch-Schönlein purpura (HSP) and the correlation between them. Methods A total of 36 children with newly-diagnosed HSP were enrolled. They were divided into two groups:HSP nephritis (HSPN) group with 11 children and non-HSPN group with 25 children according to the presence or absence of HSPN. Another 15 children who underwent physical examination at the outpatient service were enrolled as the healthy control group. Flow cytometry was used to measure the proportion of Tfh cells (CD4+CXCR5+ICOS+) in peripheral blood. ELISA was used to measure the levels of interleukin-21 (IL-21) and interleukin-6 (IL-6) in peripheral blood and the serum levels of IgA1 and Gd-IgA1. A Pearson correlation analysis was used to investigate the correlation of serum Gd-IgA1 concentration with Tfh cells and related factors expression in the children with HSP. Results Both the HSPN and non-HSPN groups had significantly higher proportion of Tfh cells and expression levels of IL-21 and IL-6 in peripheral blood than the healthy control group (P < 0.05). The HSPN group had significant increases in the above indices compared with the non-HSPN group (P < 0.05). Both the HSPN and non-HSPN groups had significantly higher serum levels of IgA1 and Gd-IgA1 than the healthy control group (P < 0.05). The HSPN group had significantly higher serum levels of IgA1 and Gd-IgA1 than the non-HSPN group (P < 0.05). In the children with HSP, serum Gd-IgA1 level was positively correlated with Tfh cells proportion and IL-21 and IL-6 levels (P < 0.05). Conclusions Tfh cells and related cytokines and serum Gd-IgA1 are involved in the development of HSP/HSPN. Tfh cells may mediate the increased production of Gd-IgA1.
Objective To summarize the extraintestinal manifestations and intestinal complications in children with Crohn's disease (CD). Methods The clinical data of 54 children who were diagnosed with CD in Peking Union Medical College Hospital from January 2008 to December 2018 were collected for retrospective analysis of extraintestinal manifestations and intestinal complications. According to the location of the lesion, the children were divided into ileocolonic group (30 cases), colonic group (6 cases), and ileal group (18 cases). Results In the 54 children, the mean age at diagnosis was 14.5±2.7 years, and the median duration from disease onset to definite diagnosis was 20 months (range:1-36 months). Twenty-four patients (44%) had extraintestinal manifestations, with the two most common manifestations being growth retardation (11 cases, 20%) and oral mucosal ulcer (10 cases, 19%), followed by arthritis (2 cases, 4%), erythema nodosum (2 cases, 4%), and cholecystitis (2 cases, 4%). There were no significant differences in the incidence of extraintestinal manifestations among the three groups (P=0.792). The most common intestinal complications were anal fistula/perianal abscess (13 cases, 24%), followed by intestinal fistula (5 cases, 9%) and intestinal obstruction (4 cases, 7%). There was a significant difference in the incidence of intestinal complications among the three groups (P=0.0406). No intestinal complications were reported in the colonic group. Conclusions Extraintestinal manifestations and intestinal complications are common in children with CD. Perianal examinations should be performed in children with suspected CD. Intestinal complications are less common in children with colonic CD, which may be associated with relatively mild disease condition.
This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion. Their older brothers had the same symptoms. The mother of the boy 1 had mild intellectual disability. The genetic analysis showed two novel homozygous mutations, c.200G > A(p.Gly67Asp) and c.626_627delCT(p.Pro209Argfs*87), in the SLC6A8 gene on the X chromosome, both of which came from their mothers. These two novel mutations were rated as possible pathogenic mutations and were not reported in the literature before. This study expands the mutation spectrum of the SLC6A8 gene and has great significance in the diagnosis of boys with delayed development, and epilepsy.
Objective To study the clinical features of vasovagal syncope (VVS) and postural orthostatic tachycardia syndrome (POTS) in children with neurological symptoms at disease onset. Methods A retrospective analysis was performed on the medical data of 88 children with the initial symptoms of the nervous system, such as transient loss of consciousness, dizziness, headache, and convulsion, who were finally diagnosed with VVS or POTS. Results Of the 88 children, there were 35 boys (40%) and 53 girls (60%), with an age of 4-15 years. The peak age of onset was between 10 and 13 years. All the children had the initial symptoms of transient loss of consciousness, dizziness, headache, and convulsion. Nervous system diseases were excluded by electroencephalography, cerebrospinal fluid examination, and cranial MRI. Of the 88 children, 53 (60%) were confirmed with VVS, and 35 (40%) with POTS, according to the results of head-up tilt test (HUTT). Five children with the initial symptom of transient loss of consciousness were misdiagnosed with epilepsy. Predisposing factors were determined for 59 children (67%), and prolonged standing was the most common factor, followed by change in body position and strenuous exercise. Premonitory symptoms were observed in 66 children (75%), among which chest discomfort was the most common symptom, followed by gastrointestinal symptoms (nausea, vomiting, and abdominal pain) and pale complexion. All 88 children received health education and exercise for autonomic nerve function, among whom 53 children with VVS were given oral rehydration salts and 35 children with POTS were given oral rehydration salts and metoprolol. All 88 children were followed up for 18 months, and the response rates to the above treatment at 3, 6, 12, and 18 months of follow-up were 87%, 93%, 93%, and 90% respectively. Conclusions In addition to nervous system diseases, functional cardiovascular diseases including VVS and POTS should be considered for children with the initial symptoms of transient loss of consciousness, dizziness, headache, and convulsion. HUTT can be used to make a confirmed diagnosis, and the early treatment can achieve a good outcome.
Objective To compare the assessment results of the Children Neuropsychological and Behavioral Scale-Revision 2016 (CNBS-R2016) between young children with autism spectrum disorder (ASD) and global developmental delay (GDD, without ASD) and to explore whether CNBS-R2016 could be helpful to early identification of ASD. Methods A total of 260 ASD and 371 GDD children aged 18-30 months were enrolled to finish the assessment of CNBS-R2016. The development quotients (DQs) of the five domains of CNBS-R2016 including gross motor, fine motor, adaptability, language and social behavior were compared between the two groups. The receiver operating characteristic (ROC) curve was used to evaluate the value of the autism-predicted domain in identifying ASD and GDD. Results The DQs of all the five domains in the ASD group were lower than those in the GDD group (P < 0.05). The language DQ and total DQ of the ASD group had a negative correlation with the score of the autism-predicted domain (rs=-0.566, -0.552 respectively, P < 0.01). When the cut-off value of the autism-predicted domain was 10.5, the largest area under the ROC curve was 0.835, and the sensitivity and specificity for the diagnosis of ASD were 0.750 and 0.798 respectively. Conclusions The development of ASD children aged 18-30 months is worse than that of GDD children. CNBS-R2016 may be helpful to distinguish ASD from children with developmental delay.
Objective To investigate the understanding of speech sound disorder (SSD) among child health practitioners. Methods The clinical data of 506 children with an initial diagnosis of SSD from January 2017 to May 2019 were retrospectively analyzed. Results Of the 506 SSD children, 90.5% had a description of developmental behavior in their medical records; 97.6% received a developmental-behavioral evaluation, mostly intellectual and developmental screening tests, which were given to 95.8% (485/506) of the total children. A total of 116 (22.9%) children also had neurodevelopmental disorders, commonly presenting with language disorder, global developmental delay, and intellectual disability; however, 53 (45.7%) of the 116 children had no history records of such abnormal developmental behavior. The incidence of neurodevelopmental disorders was significantly higher in the children with abnormal hearing reported by their families than in the children with normal hearing reported by their families (P < 0.001). The children with abnormal response to sound stimulation on physical examination had significantly more frequent neurodevelopmental disorders than those with normal response to sound stimulation (P < 0.05). Among the 506 children with SSD, hearing condition was ignored in 33.2% in history records, and in 31.2% on physical examination. Ninety-two children (18.2%) completed the diagnostic hearing test, 12% (11/92) of whom were diagnosed with hearing loss. Of the 11 children with hearing loss, three had passed a hearing screening, three had family-reported normal hearing, and seven had normal response to sound stimulation on physical examination. Conclusions SSD is frequently comorbid with neurodevelopmental disorders in children. Children's communication performance is a key to the diagnosis of neurodevelop-mental disorders. It's necessary to the diagnosis of SSD to perform a medical history collection about neuropsychological development and a developmental-behavior evaluation. There is a high proportion of children with SSD receiving the developmental-behavioral evaluation, suggesting that child health practitioners pay close attention to the neuropsychological development of SSD children, but mostly, the evaluation merely involves intellectual developmental screening tests. The detection rate of hearing loss in children with SSD is high. However, child health practitioners underestimate this problem, and have an insufficient understanding of the importance of the diagnostic hearing test. The diagnostic hearing test should be the preferred recommendation for assessing hearing ability rather than past hearing screening results or children's response to sound stimulation in life scenes.
In order to clearly define the features of Shwachman-Diamond syndrome (SDS) in Chinese children, this article analyzes and summarizes the epidemiology, clinical features, and key points in the diagnosis and treatment of SDS in Chinese children with review of the clinical data of 27 children with SDS from related articles published previously. A comparative analysis was made between the Chinese and international data related to childhood SDS. The results showed a male/female ratio of about 2:1 in the Chinese children with SDS, with an age of onset of < 1 month to 5 years (median 1 month) and an age of 3 months to 12 years (median 12 months) at the time of confirmed diagnosis. Reductions in peripheral blood cells due to myelopoiesis inhibition were observed in all 27 children with SDS, among whom 93% had neutropenia. Chronic diarrhea (85%), liver damage (78%), and short stature (83%) were the three main clinical features of SDS. Supplementation of pancreatin and component blood transfusion may temporarily alleviate the disease, while allogeneic hematopoietic stem cell transplantation is still an effective radical treatment. The comparative analysis of the Chinese and oversea data showed that compared with those in the European and American countries, the children with SDS in China had significantly higher incidence rates of chronic diarrhea, reductions in peripheral blood cells (three lineages), and liver damage, and there were also differences in the type of mutant genes.
No abstract available
Functional movement disorders (FMDs), also known as psychogenic movement disorders (PMDs), should be considered a biological-psychological-social disease like other functional neurological diseases. It is not merely a psychological or mental disease. The etiology of FMDs includes neurobiological changes, such as abnormal patterns of cerebral activation and abnormal connectivity between the limbic system and the motor networks. Inheritance and epigenetic machinery, such as DNA methylation and changes in grey and white matter morphology, may influence the development of FMDs. FMDs are not rare in the outpatient service of pediatrics and are one of the most challenging movement disorders due to complex and diversified clinical manifestations. Due to a lack of clinical knowledge and unified diagnostic criteria, it is difficult for pediatricians to make a correct diagnosis of FMDs, which may be easily confused with other diseases. Pediatricians should pay more attention to children with FMDs and establish a multidisciplinary team with psychiatrists, specialists in developmental behavior, and physiotherapists, so as to provide active management and treatment for such children.
Cognitive impairment in children with benign childhood epilepsy with centrotemporal spikes (BECT) has complex etiologies and is closely associated abnormal neural networks. Multimodal magnetic resonance imaging of brain structure and function is a powerful tool for studying abnormal neural networks of cognitive impairment in epilepsy and can explore the pathogenesis of cognitive impairment in epilepsy at the level of brain structure and function by analyzing the imaging features of brain structure and function. This article reviews the research advances in multimodal magnetic resonance for cognitive impairment in children with BECT.
