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Objective@#To explore the impact of maternal anxiety during pregnancy on social emotional development of toddlers aged 1-3 year old, so as to provide references for scientific early parenting and early intervention for toddlers with social emotional difficulties.@*Methods@#From September 2022 to March 2023, a total of 815 toddlers aged 1-3 who underwent physical examinations and their mothers at Nantong Maternal and Child Health Hospital were enrolled. The Chinese Infant Toddler Social and Emotional Assessment (CITSEA) was used to evaluate the social emotional ability among toddlers. Maternal anxiety evaluated using the Self rating Anxiety Scale (SAS) during prenatal visit was collected.@*Results@#The average scores on the externalizing, internalizing, dysregulation and competence domains of the CITSEA were (49.40±9.48,47.42±9.60,48.67± 10.15 , 50.07± 10.20), respectively. Among boys, the score of externalizing domain (50.89±9.45) was higher than that of girls (48.76± 9.50 ), while the score of competence domain (49.22±10.30) was lower than that of girls (51.17±9.84), and the differences were statistically significant( t =2.10, -3.03, P <0.05). The detection rates of abnormalities in the externalizing, internalizing, dysregulation, and competence domains were 7.36%, 7.12%, 7.61%, and 7.24%, respectively. Among them, boys (8.43%,6.32%, 7.96 %,7.49%) and girls (6.19%, 7.99 %,7.22%,6.96%) showed no statistical differences ( χ 2=1.50, 0.85, 0.16, 0.09, P >0.05). There were significant differences in externalizing domain scores（47.77±9.52，49.56±8.95，52.51±9.77） and competence domain scores（51.70±10.38，49.65±10.05，46.68±10.03） among toddlers of different maternal anxiety（normal, mild, moderate to severe） （ F =7.05,7.10, P <0.01）. There were significant differences in the abnormal detection rate of externalizing domain （4.81%，7.54%，11.17%） and competence domain（4.81%，6.96%，11.73%）（ χ 2=6.60，7.98， P ＜0.05）.@*Conclusion@#Maternal anxiety during pregnancy has a negative impact on the social emotional development among toddlers. In order to improve social emotional development of toddlers, multidimensional social support and education during pregnancy should be carried out.
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Abstract@#Deviant behaviors among adolescents is widespread and have substantial impacts on family and society. Increasing evidence has shown that adolescents who experienced traumatic stress events and suffered from post traumatic stress disorder are at significantly higher risk of deviant behaviors than their healthy peers and have their personal lives negatively affected. In this review, the effect of PTSD on deviant behaviors in adolescents is summarized, in which adolescent deviant behaviors are mainly classified into extroverted, introverted, and academic deviant behavior, as well as deviant habits. Meanwhile, aims to explore the neural mechanism linking PTSD and adolescent deviant behaviors, and to provide suggestions for intervention of deviant behaviors.
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Objective@#To understand sensory characteristics and its correlation with behavioral problems among children with autism spectrum disorder (ASD), so as to provide reference basis for early diagnosis and comprehensive intervention of ASD children.@*Methods@#Using cross sectional survey, 193 ASD children trained by Nantong rehabilitation institutions were recruited from September 2021 to February 2022. All children were investigated with the Short Sensory Profile (SSP) and Parent Symptom Questionnaire (PSQ).@*Results@#Among the 193 ASD children, 106 (54.9%) children had abnormal sensory characteristics, including 45 (23.3%) with possible abnormalities and 61 (31.6%) with obvious abnormalities. The abnormal rate of auditory filtering was the highest in the seven dimensions, reaching 85.0%, followed by low strength/weakness, motor sensitivity, taste/smell sensitivity, low response/seeking sensation, vision/hearing sensitivity and tactile sensitivity. The total incidence of sensory abnormalities was 93.3%. There were significant differences in six dimensions of PSQ scale scores of ASD children with different degrees of sensory abnormalities, including conduct problems, learning problems, psychosomatic disorders, impulsive hyperactivity, anxiety and hyperactivity index ( H =38.89, 38.90, 19.53, 46.34, 34.54, 54.90, P <0.01). With the aggravation of sensory abnormalities in children with ASD, the scores of all dimensions of the PSQ scale increased significantly. The total score of SSP was negatively correlated with the six dimensions of conduct problems, learning problems, psychosomatic disorders, impulsive hyperactivity, anxiety and hyperactivity index in PSQ ( r =-0.53, -0.50, -0.32, -0.55, -0.43, -0.61, P <0.01).@*Conclusion@#ASD children generally have sensory abnormalities, which coincide with severity of behavioral problems. There is a positive correlation between sensory abnormalities and behavioral problems in ASD children. More attention should be paid to the abnormal sensory characteristics of children with ASD in the future diagnosis and treatment process.
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Objective@#To understand the serum vitamin A level of children aged 0-16 years in Nantong City, and to provide reference for scientific supplement of vitamin A for children and prevention of related diseases.@*Methods@#A cross-sectional survey method was used to detect the serum vitamin A level of 3 271 children aged 0-16 years old by using high performance liquid chromatography (HPLC) in Nantong Maternal and Child Health hospital from January 2017 to December 2018, and the general information of children was collected.@*Results@#The results showed that the average serum vitamin A concentration of 0-16 years old children was(0.31±0.08)mg/L, boys was(0.31±0.08)mg/L, which was lower than that of girls(0.32±0.09)mg/L. The proportion of insufficient and deficient vitamin A in boys was higher than that in girls(P<0.01); The levels of serum vitamin A were different by age groups, from high to low were >12~16, >6~12, >3~6, >1~3, ≤1 years old, the difference was statistically significant(F=3.48，P<0.05). The results showed that the proportion of normal, insufficient and deficient vitamin A in rural children were 51.2%, 43.5% and 5.3%, respectively. The proportion of vitamin A deficiency and deficiency in rural children was higher than that in urban areas(χ2=18.86，P<0.01).@*Conclusion@#The proportion of vitamin A insufficieng and deficiency among children in Nantong is higher, boys show worse vitamin A status compared of girls. More attention should be paid to these children and prevention of related diseases.
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Objective:To understand the prevalence and epidemiological characteristics of glaucoma among people over 40 years old in rural areas of Chongqing.Methods:From August to October 2018, a stratified cluster random sampling method was used to investigate the cases of glaucoma among people over 40 years old in a rural population of the Rongchang and Qijiang Districts in Chongqing.The subjects had been living in the local area for over ten years.Basic information for each patient, including gender and age was documented, and their visual acuity and intraocular pressure were routinely measured.The Van Herick method was used to evaluate the depth of the central and peripheral anterior chamber, a preset lens was used to examine the fundus, and the cup to disc ratio(C/D) of the optic disc was emphasized.All suspected glaucoma patients underwent further standard glaucoma examinations.This study protocol was approved by the Ethics Committee of the First Affiliated Hospital of Army Medical University.Results:A total of 4 680 people were identified, and 4 073 respondents participated in the survey, and the response rate was 87%.The prevalence of glaucoma was 1.72% (70/4 073). There were no significant differences in the prevalence of primary angle-closure glaucoma (PACG) and primary open angle glaucoma (POAG) between different genders ( χ2=0.042, P=0.837; χ2=2.838, P=0.092). The prevalence of glaucoma in people over 70 years old was 2.5%, significantly higher than that in other age groups.In patients with glaucoma, the rate of visual impairment was 68.57%(48/70), and the rate of blindness was 47.14%(33/70). There was no significant difference in the incidence of low vision between different types of glaucoma ( χ2=2.785, P=0.248), but there was a significant difference in the rate of blindness ( χ2=10.668, P=0.005). The highest rate of blindness was found in secondary glaucoma.The detection rate of intraocular pressure, anterior chamber depth and C/D was statistically significant ( χ2=43.325, P<0.001), and the positive rate of C/D was the highest.When the factors of intraocular pressure, and C/D were considered jointly, the detection rate of glaucoma could be increased to 55.88%. Conclusions:The prevalence of glaucoma is 1.72% among people over 40 years old in rural areas of Chongqing, the prevalence of PACG is lower than previously recorded, but the proportion of glaucoma-induced visual impairment is higher.In field screening, the morphological examination of the fundus optic nerve is very important for the diagnosis of glaucoma.
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OBJECTIVE@#To analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome.@*METHODS@#Clinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing.@*RESULTS@#The child has featured growth and mental retardation, delayed speech, cleft palate, crowding of teeth, and downslanting palpebral fissures. DNA sequencing revealed a de novo heterozygous missense mutation c.1166G>A (p.R389H) in exon 8 of the SATB2 gene in the child.@*CONCLUSION@#The heterozygous mutation c.1166G>A (p.R389H) of the SATB2 gene probably account for the Glass syndrome in the patient.
Subject(s)
Child , Humans , Abnormalities, Multiple , Genetics , Chromosome Deletion , Chromosomes, Human, Pair 2 , Intellectual Disability , Genetics , Matrix Attachment Region Binding Proteins , Genetics , Mutation , Transcription Factors , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To analyze two Chinese pediatric patients with multiple malformations and growth and development delay.</p><p><b>METHODS</b>Both patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing.</p><p><b>RESULTS</b>High-throughput sequencing showed that both patients have carried heterozygous variants of the CHD7 gene. Patient 1 carried a nonsense mutation in exon 36 (c.7957C>T, p.Arg2653*), while patient 2 carried a nonsense mutation of exon 2 (c.718C>T, p.Gln240*). Sanger sequencing confirmed the above mutations in both patients, while their parents were of wild-type for the corresponding sites, indicating that the two mutations have happened de novo.</p><p><b>CONCLUSION</b>Two patients were diagnosed with CHARGE syndrome by high-throughput sequencing.</p>
Subject(s)
Humans , Infant , Male , CHARGE Syndrome , Genetics , DNA Helicases , Genetics , DNA-Binding Proteins , Genetics , Genetic Testing , High-Throughput Nucleotide Sequencing , MutationABSTRACT
Objective@#To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1).@*Method@#Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children′s Medical Center since December 2015. The patient and his parents were examined by the next generation sequencing (NGS) technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing. Related literature was searched from PubMed and Embase databases (from their establishment to January 2017) by using "PIGN gene" as a keyword, the retrieved articles were further reviewed for the clinical manifestations, results and prognosis of PIGN related variants.@*Result@#A nearly 4-month-old Chinese boy was presented with epilepsy, hypotonia, developmental delay, accompanied by nearly normal laboratory test results. The NGS analysis revealed a compound heterozygous variations in the PIGN gene, included a known splice site mutation (c.963G>A) which was inherited from his father, and a novel nonsense mutation (c.2773A>T, p.Lys925*) which was inherited from his mother. Nine associated articles were retrieved. Including our patient, a total of 22 cases were identified as the PIGN variants. The most common clinical manifestations were developmental delay, hypotonia, and epilepsy.Missense varients were most frequently found. Prognosis was poor. Eight cases died, while survived cased suffered from refractory epilepsy, profound mental retardation, muscle weakness, etc.@*Conclusion@#MCAHS1 is characterized by epilepsy, severe developmental delay, hypotonia, and may be accompanied by multiple malformations of other systems. Homozygous or compound heterozygous variants in PIGN gene are the cause of the disease.
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Primary ovarian insuffiency (POI), which accounts for female infertility, is characterized by amenorrhea before the age of 40 and high serum level of follicular stimulating hormone (>40 U/L) at two measurements taken at least one month apart. The disorder is believed to have a strong genetic component. A large number of candidate genes have been proposed, though few of them were extensively studied. With the rapid evolvement of genome sequencing technology, recent research raised the possibility that the genes involved in essential steps of meiosis such as chromosome synapsis and recombination play an important role in the pathogenesis of POI. Clarifying the genetic pathogenesis of POI not only can enhance understanding of the molecular mechanism of reproductive functions and infertility, but also provide accurate information for genetic counseling for such patients.