Normal Control Children Research Articles

Correlation between language and cognitive skills in Egyptian children with reading problems

BackgroundReading problems are the most prevalent type of specific learning disability. Reading problems usually result from phonological deficits; however, it is unclear how much other linguistic abilities are impacted as well.ObjectiveTo study different language parameters and cognitive skills in a group of Egyptian children with reading problems to better understand the difficulties that need to be considered in rehabilitation programs for those children.MethodsA case–control study was conducted on 30 children with reading problems having IQs above 85 and 30 normal control children matched for age and gender (their ages ranged from 7 to 9 years and 11 months). They underwent testing for dyslexia by the Arabic dyslexia assessment test, language evaluation using the Receptive Expressive Arabic Language Scale (REAL scale), and the Stanford-Binet intelligence scale, fifth edition.ResultsThere were highly significant correlations between the severity of dyslexia and total language scores, most of REAL scale subtests. Also, highly significant correlations were detected between the severity of dyslexia and the total IQ, verbal IQ, and verbal working memory subtests. The linear regression model revealed a highly significant association between dyslexia and expressive language scaled scores, total language scaled scores, and a significant association with expressive vocabulary and understanding oral instructions subtests of REAL scale. Additionally, a highly significant association has been detected between dyslexia and the verbal working memory subtest of the Stanford-Binet test. Correlations between total language scores and intellectual abilities (total IQ, verbal IQ, and non-verbal IQ) revealed highly significant positive results.ConclusionDeficits in both receptive and expressive language were observed in children with reading problems. Expressive vocabulary, listening comprehension, and verbal working memory subtests are the most affected language and cognitive skills.

RETINAL MICROVASCULOPATHY WITH DIFFERENT INSULIN INFUSION THERAPIES IN CHILDREN WITH TYPE 1 DIABETES MELLITUS WITHOUT CLINICAL DIABETIC RETINOPATHY.

To explore the characteristics and associated factors of retinal microvasculopathy and neurodegeneration with different insulin therapies in children with type 1 diabetes mellitus (T1DM) but without diabetic retinopathy. Forty-one children with T1DM with multiple daily insulin injections (MDI), 22 children with T1DM with continuous subcutaneous insulin infusion, and 62 age-matched normal control children were enrolled. SPECTRALIS Optical coherence tomography was used to scan 6×6 mm square area of posterior retina. The vessel density of superficial vascular plexus, intermediate capillary plexus, and deep capillary plexus in T1DM-MDI group were all significantly lower than those in the T1DM-CSII and control groups (0.39 ± 0.05 vs. 0.44 ± 0.04 and 0.42 ± 0.06, P < 0.001; 0.26 ± 0.04 vs. 0.30 ± 0.02 and 0.28 ± 0.04, P = 0.003; 0.30 ± 0.04 vs. 0.33 ± 0.04 and 0.32 ± 0.04, P = 0.027). In T1DM-MDI group, lower vessel density of superficial vascular plexus was associated with higher hemoglobin A1c (r = -0.377, P = 0.015). Foveal avascular zone morphology index in T1DM-MDI and T1DM-CSII groups were smaller than that in the control group (0.63 ± 0.11 and 0.63 ± 0.12 vs. 0.69 ± 0.15, P = 0.040). There was no statistically significant difference in the thickness of the retina among the three groups ( P > 0.05). The vessel density of posterior retina was lower in children with T1DM with MDI than in healthy control children and associated with higher hemoglobin A1c. There was a significant difference on vessel density betweenT1DM-MDI and T1DM-CSII, with the similar hemoglobin A1c. This study suggested that optical coherence tomography angiography could be beneficial for the detection of retinal abnormalities in children with early T1DM, and continuous subcutaneous insulin infusion may be a better choice than MDI for children with T1DM to prevent the retinal complication.

Investigation of LncRNA PVT1 and MiR-21-5p Expression as Promising Novel Biomarkers for Autism Spectrum Disorder.

The characteristics of ncRNA in children with autism spectrum disorder (ASD) were observed to disclose a theoretical basis for further research on molecular markers for early warning of ASD. Children with ASD and normal control children were recruited to collect peripheral blood RNA samples. The concentration of PVT1 and miR-21-5p was quantitatively analyzed by qRT-PCR. Pearson correlation coefficient method was used to evaluate the link between PVT1 level and miR-21-5p level of the children. Receiver operating characteristic (ROC) curves were applied to reckon the predictive value of PVT1, miR-21-5p, and their combination in ASD. The interconnection of PVT1 with miR-21-5p was represented by luciferase reporter assay. The targeted genes of miR-21-5p were predicted. The enrichment and protein interaction analysis of these genes was carried out to find the important core genes and analyze their value in ASD. In the disease group, the level of PVT1 was downregulated, while the content of miR-21-5p was upregulated. The expression level of serum miR-21-5p was negatively correlated with the level of PVT1. Luciferase reporter gene assay documented that PVT1 directly targeted miR-21-5p. ROC curve showed that PVT1, miR-21-5p, and their combination showed clinical value for disease diagnosis. The functional enrichment analysis showed that the targets of miR-21-5p participated in ASD by regulating related functions and pathways. Reduced expression of PVT1 and raised miR-21-5p were good diagnostic markers for ASD, which would provide a basis for effective prevention, early diagnosis, and early intervention of ASD.

Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR

BackgroundActin Alpha 2 (ACTA2) is expressed in intestinal smooth muscle cells (iSMCs) and is associated with contractility. Hirschsprung disease (HSCR), one of the most common digested tract malformations, shows peristaltic dysfunction and spasm smooth muscles. The arrangement of the circular and longitudinal smooth muscle (SM) of the aganglionic segments is disorganized. Does ACTA2, as a marker of iSMCs, exhibit abnormal expression in aganglionic segments? Does the ACTA2 expression level affect the contraction function of iSMCs? What are the spatiotemporal expression trends of ACTA2 during different developmental stages of the colon?MethodsImmunohistochemical staining was used to detect the expression of ACTA2 in iSMCs of children with HSCR and Ednrb−/− mice, and the small interfering RNAs (siRNAs) knockdown technique was employed to investigate how Acta2 affected the systolic function of iSMCs. Additionally, Ednrb−/− mice were used to explore the changes in the expression level of iSMCs ACTA2 at different developmental stages.ResultsThe expression of ACTA2 is higher in circular SM in the aganglionic segments of HSCR patients and Ednrb−/− mice than in normal control children and mice. Down regulation of Acta2 weakens the contraction ability of intestinal smooth muscle cells. Abnormally elevated expression of ACTA2 of circular smooth muscle occurs since embryonic day 15.5 (E15.5d) in aganglionic segments of Ednrb−/− mice.ConclusionsAbnormally elevated expression of ACTA2 in the circular SM leads to hyperactive contraction, which may cause the spasm of aganglionic segments in HSCR.

Antioxidant levels in children with cyanotic breath-holding spells

Background Breath-holding spells (BHSs) are paroxysmal nonepileptic attacks that occur in some infants and toddlers. Their pathophysiology and etiology are still incompletely well defined. Aim To measure the serum levels of some antioxidant markers in children with cyanotic BHSs. Patients and methods This cross-sectional study included 50 children with cyanotic breath-holding attacks and 50 healthy control children, recruited from Pediatric Neurology Clinic and General Pediatric Clinic, Pediatric Department, Tanta University Hospital. Serum total antioxidant capacity and catalase activity were measured by the spectrophotometric method. Results Total antioxidant capacity and catalase activity levels were significantly lower in children with cyanotic BHS than in normal control children (P&lt;0.05). The number of breath-holding attacks was significantly negatively correlated with total antioxidant capacity (r=-0.77, P=0.03) and catalase activity levels (r=-0.8, P=0.04). Conclusion Children with cyanotic BHS have significantly lower levels of total antioxidant capacity and catalase activity.

The association between ST8SIA2 gene and behavioral phenotypes in children with autism spectrum disorder.

ObjectiveST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2) encodes a type II membrane protein that is thought to catalyze the transfer of sialic acid (SA) from CMP-SA to N-linked oligosaccharides and glycoproteins. Some population and animal studies have indicated an association between the ST8SIA2 gene and autism spectrum disorder (ASD). However, there is limited information on the correlation between ST8SIA2 and autistic behavioral symptoms.MethodsIn this study, 69 ASD and 76 normal control children who were age- and sex-matched were recruited. ST8SIA2 expression and methylation levels were measured by reverse transcription quantitative real-time PCR and pyrosequencing, respectively, and the behavioral phenotypes of ASD children were assessed.ResultsThe ASD group had lower ST8SIA2 gene expression levels than the control group [t(0.05/2,143) = 2.582, p = 0.011]. Moreover, ST8SIA2 expression levels were positively correlated with daily life skills (rs = 0.381, p = 0.008) and negatively associated with stereotyped behaviors in the ASD group (rs = -0.510, p = 0.004). The methylation levels of the Chr. 15: 92984625 and Chr. 15: 92998561 sites of the ST8SIA2 gene in ASD children were higher than those of controls. The Chr. 15: 92984625 site was positively correlated with the stereotyped behaviors of ASD children (rs = 0.41, p = 0.039).ConclusionThis study provides a scientific basis to elucidate the relationship between the ST8SIA2 gene and behavioral phenotypes of ASD.

Fecal Calprotectin in Children Can Differentiate Between Different Gastrointestinal Diseases

BACKGROUND: Calprotectin is a 36 kDa member of the S100 family of proteins. It is derived predominantly from neutrophils and has direct antimicrobial effects and a role within the innate immune response. Calprotectin is found in various body fluids in proportion to the degree of any existing inflammation and its concentration in feces is about 6 times that of plasma. Measurement of fecal calprotectin is a useful surrogate marker of gastrointestinal inflammation. It has a high negative predictive value in ruling out inflammatory bowel disease (IBD) in undiagnosed, symptomatic patients and high sensitivity for diagnosing the disease making it useful as a tool for prioritizing endoscopy. In patients with known IBD, fecal calprotectin can be a useful tool to assist management, providing evidence of relapse or mucosal healing to enable therapy to be intensified or reduced. AIM: The present study aimed to discuss the use of calprotectin for the diagnosis of IBD and some of the other ways in which the test may be useful in the management of gastroenterology patients. METHODS: A cross-sectional study on children with significant gastrointestinal diseases attending to pediatric department at Menoufia University, with a total number of 180 patients in addition to 30 normal children as control according to sample size calculation. The children are allocated into seven groups according to the final diagnosis to Group (1): 30 patients with IBD, Group (2): 20 patients with eosinophilic colitis, Group (3): 30 patients with Helicobacter pylori infection, Group (4): 40 patients with functional constipation, Group (5): 30 patients with cow milk allergy, Group (6): 30 patients with Celiac disease, and Group (7): 30 normal children as control. RESULTS: In cow milk protein allergic patients with marked GI presentation in the form of bloody diarrhea and/or abdominal distension, the mean fecal calprotectin (FC) was 1260 ± 625 μg/g. FC has decreased after 2−4 weeks of elimination of cow milk products to 420 ± 190 μg/g. Patient with inflammatory bowel disease had mean FC 4640 ± 850 μg/g, decreased after medical treatment and resolution of symptoms to 1360 ± 520 μg/g. In H. pylori infection detected by upper GI endoscopy and histopathology with positive stool antigen the mean FC was 78.9 ± 25.1 μg/g. Celiac disease patients had mean fecal calprotectin 456 ± 123 μg/g. Eosinophilic esophagitis had mean fecal calprotectin 4.2 ± 2.9 μg/g. Functional constipation patients had mean fecal calprotectin 23.6 ± 21.8 μg/g. Normal control children had mean fecal calprotectin 4.1 ± 6.9 μg/g. CONCLUSION: According to the results of previous studies, fecal calprotectin can be considered as a biomarker to differentiate between IBS and organic gastrointestinal disorders. However, due to the limitations of pre-analysis, a low fecal calprotectin concentration may not necessarily be considered as the reason for the absence of IBD.

Global Longitudinal Myocardial Strain Correlates with Degree of Anemia in Sickle Cell Disease but Not Transfusion-Dependent Thalassemia

Cardiac failure is one of the leading causes of death in sickle cell disease (SCD) and transfusion-dependent thalassemia (TDT). For this reason, early detection of silent cardiac dysfunction is crucial for treatment and prevention of heart failure. Speckle-tracking echocardiography (STE) is an easily accessible tool for analyzing myocardial function and this modality has increased sensitivity in detecting asymptomatic disease. Attenuation in cardiac strain has been correlated to early systolic dysfunction among patients with cardiomyopathies. This technique has not been consistently evaluated in children with SCD and TDT. Due to the role of anemia and siderosis in the pathology of cardiac dysfunction, we hypothesized that early myocardial dysfunction correlates with the degree of anemia and hyperferritinemia in SCD. We analyzed the clinical, echocardiographic, STE and laboratory parameters in SCD and compared them to children with TDT and normal controls.We retrospectively analyzed date from consecutive patients with SCD and TDT who received treatment at our institution from 2008 to 2018. Echocardiographic data from children with benign murmurs served as normal controls (NC). Data was independently verified by a pediatric cardiologist. Descriptive and correlation analysis were used; a p-value < 0.05 was considered significant.Echocardiographic data were available for 77 SCD (HbSS and HbS/ ß 0 Thal), 25 TDT (ß 0/ ß 0 and ß +/ ß + Thal)and 138 NC. Mean hemoglobin (Hg) and ferritin values were 9.8 g/dl (6.8-14.6 g/dl); 392 ng/ml (19.3-8,3437.67 ng/ml), respectively for SCD patients and 9.3 g/dl (7-17.03 ng/dl); 2,960 ng/ml (13-13,831 ng/ml), respectively for TDT. Standard echocardiographic parameters left ventricular ejection fraction (LVEF), right VEF and LV shortening fraction (LVSF) were within the normal limits in SCD, TDT, and NC children. Significant differences were observed in the steady-state global circumferential strain (GCS) between the three groups SCD, TDT and NC [-26.5 (mean), 3.6 (SD); -27.6 (mean), 4.8(SD); -25.0 (mean), 3.6 (SD), respectively; p = 0.002] (Table 1). Subset analysis based on ferritin levels (> or < 1000 ng/ml), revealed no significant difference in GCS between the SCD or TDT groups (Table 2). However, global longitudinal strain (GLS) was significantly lower among SCD compared to TDT with ferritin levels greater than 1,000 ng/ml (Table 2). A positive correlation (r = 0.25, p = 0.046) was found between GLS and Hg in SCD patients (n=63) (Figure 1). No significant correlation was found between Hg and GLS in the TDT group (Figure 2). No significant correlation was found between GCS and Hg (r = 0.1, p = 0.42); GLS and GCS and ferritin in the SCD group. LVEF was found to be normal in patients with abnormal strain indices.Cardiac strain indices are abnormal in children with SCD and TDT compared to normal children. Significantly abnormal GLS was noted in hyperferritinemic SCD patients compared to TDT patients. A positive correlation between severity of anemia and GLS was observed in this study in SCD children. Based on these results, we speculate that therapies aimed at ameliorating anemia can potentially improve GLS and thus, early cardiac dysfunction in SCD patients. However, further studies are warranted to understand the contributory role of anemia and hyperferritinemia and its therapeutic implications on early myocardial dysfunction in SCD. [Display omitted] DisclosuresSathi: Vertex Pharmaceuticals: Consultancy.

Childhood overweight and obesity among the Saudi population: a case-control study among school children

BackgroundChildhood obesity is a global public health concern with major consequences. In Saudi Arabia, the percentage of children who are overweight or obese has significantly increased in the past two decades, raising concerns about the physical and psychosocial consequences of this burden. This study aimed at investigating the different risk factors contributing to childhood obesity in Saudi Arabia.MethodsA case-control study was conducted among 492 school children (246 overweight/obese children, and 246 normal weight control children aged 5-9 years). Using valid and reliable instruments, parental and child characteristics, behavioral practices, screen use, and other activities were assessed as risk factors for childhood obesity using logistic regression analysis.ResultsAn unemployed father (OR=11.90; 95% CI: 7.47-18.93), a father with overweight/obesity (OR=2.04; 95% CI: 1.40-2.96), an incorrect parental perception of child’s weight status (OR=2.54; 95% CI: 1.75-3.68), cesarean delivery (OR=2.52; 95% CI: 1.56-4.09), daily time in active play for less than 30 min (OR=2.18; 95% CI: 1.44-3.28), frequent snacking (OR=1.74; 95% CI: 1.05-2.93), and screen time use for more than 2 h per day outside of school (OR=1.62; 95% CI: 1.12-2.34) were all independent risk factors for being overweight or obese among the selected cases.ConclusionEfforts to prevent childhood overweight and obesity in this population should focus primarily on the early identification and confrontation of risk factors. Such risk factors include parental characteristics and awareness of the magnitude of the burden obesity poses, behavioral practices such as frequent snacking, screen time use, and physical activity.

Effects of auditory and visual interference control on visuospatial working memory in children with ADHD

Background: Interference control is the cognitive control needed to prevent interference due to competition of relevant and irrelevant information that closely related to working memory. The aim of this study was to examine the effects of auditory and visual interference control on visuospatial working memory of children with ADHD. Methods: The participants included thirty children with ADHD and thirty normal control children aged 7–12 years old. All children took the computerized test of visuospatial working memory assessment. The test comprised the N-back and running Memory tasks divided into three conditions: noninterference, auditory interference, and visual interference in three levels of difficulty. Results: The results revealed that there was a significant difference in N-back with auditory interference (t = 2.13, P = 0.04) and N-back with visual interference task (t = 2.48, P = 0.02) between normal control children and children with ADHD. However, there was no significant difference in N-back with noninterference task (t = 1.61, P = 0.11) between normal control children and children with ADHD. There was a significant difference in running memory with noninterference (t = 5.34, P ≤ 0.001), running memory with auditory interference (t = 6.23, P ≤ 0.001), and running memory with visual interference task (t = 5.86, P ≤ 0.001) between normal control children and children with ADHD. In addition, the comparison of the mean score revealed that children with ADHD had poorer performance of interference control on visuospatial working memory tasks than normal control children in overall tasks. Conclusion: Children with ADHD exhibited inefficient control over themselves, especially in the interference condition tasks in which they performed more error responses when interacting in the tasks. The present study supports the evidence-based mechanisms of auditory and visual interference control in visuospatial working memory of children with ADHD.

Dietary intakes, eating habits and socioeconomic determinants of childhood malnutrition among children under 5 years of age in rural Lingshui county, Hainan, China

Objective: To investigate the associations between dietary intakes, eating habits, socioeconomic determinants and malnutrition in children under 5 years old in south China. Method: A case-control study with 182 malnourished (case) and 254 normal (control) children was conducted in four towns using anthropometric measurements and questionnaires. Results: The dietary intakes of calory, protein, vitamin and minerals of malnourished children were lower than their normal counterparts. Overall, 37.9% children ‘monthly or never’ ate egg and egg products, 61.5% ‘monthly or never’ ate beans and soy products, but 76.7% had candies or cakes ‘daily or weekly’. Four identified determinants of malnutrition were: 1) low education level of mother (OR 1.65; 95% CI 1.02-2.67); 2) more children in one family (OR 1.86; 95% CI 1.14-3.03); 3) absence of independent eating habit (OR 1.75; 95% CI 1.13-2.72); and 4) long dining time (≥20 min) (OR 1.91; 95% CI 1.12-3.24). Conclusions: Inadequate dietary intake, lower socioeconomic status and inappropriate eating habits were the major determinants of childhood malnutrition in south China. Nutritional intervention focusing on education and behavior change are warranted to help reduce the rate of malnourishment among the children of rural families in the future.

Intracranial pressure based decision making: Prediction of suspected increased intracranial pressure with machine learning

BackgroundRepeated invasive intracranial pressure (ICP) monitoring is desirable because many neurosurgical pathologies are associated with elevated ICP. On the other hand, it could become a risk for children to repeat sedation, anesthesia, or radiation exposure. As a non-invasive method, measurements of optic nerve sheath diameter (ONSD) has been revealed to accurately predict increased ICP. However, no studies have indicated a relationship among age, brain, and ventricular parameters in normal children, nor a prediction of increased ICP with artificial intelligence.Methods and findingsThis study enrolled 400 normal children for control and 75 children with signs of increased ICP between 2009 and 2019. Measurements of the parameters including ONSD on CT were obtained. A supervised machine learning was applied to predict suspected increased ICP based on CT measurements. A linear correlation was shown between ln(age) and mean ONSD (mONSD) in normal children, revealing mONSD = 0.36ln(age)+2.26 (R2 = 0.60). This study revealed a linear correlation of mONSD measured on CT with ln(age) and the width of the brain, not the width of the ventricles in 400 normal children based on the univariate analyses. Additionally, the multivariate analyses revealed minimum bicaudate nuclei distance was also associated with mONSD. The results of the group comparison between control and suspected increased ICP revealed a statistical significance in mONSD and the width of the ventricles. The study indicated that supervised machine learning application could be applied to predict suspected increased ICP in children, with an accuracy of 94% for training, 91% for test.ConclusionsThis study clarified three issues regarding ONSD and ICP. Mean ONSD measured on CT was correlated with ln(age) and the width of the brain, not the width of the ventricles in 400 normal children based on the univariate analyses. The multivariate analyses revealed minimum bicaudate nuclei distance was also associated with mONSD. Mean ONSD and the width of ventricles were statistically significant in children with signs of elevated ICP. Finally, the study showed that machine learning could be used to predict children with suspected increased ICP.

Sonographic Assessment of Some Abdominal Organs in Children with Sickle Cell Disease in Ilorin, Nigeria.

Background:The irregular sickle cells can block blood vessels, causing tissue and organ damage and in most cases presented with pain as a result of organ ischemia. Ultrasonography is an easily available instrument for investigating abdominal organs which are most commonly affected by sickle cell disease (SCD). This study was aimed to assessing liver, gall bladder, spleen, and kidney in children with SCD in Ilorin, Kwara State.Methods:A prospective cross-sectional study was conducted among children with SCD in Ilorin from September 2017 to April 2018. An ethical approval was obtained from the Human Research and Ethics Committee of the Kwara State Ministry of Health. In this study, 106 children with SCD and 106 normal children for control were included. Abdominal ultrasound scan was performed on all the selected subjects and the findings were recorded on the data capture sheet. Descriptive and inferential statistic was used in the data analysis, SPSS version 20 was used and the P = 0.05.Results:In the children with SCD, hepatomegaly was found in 45 (42.5%), 29 (27.4%) had coarse echo pattern of liver and 16 (15.1%) had hyperechoic liver, 5 (4.7%) had gallbladder stone, 2 (1.9%) had gallbladder sludge, and 6 (5.6%) had thickened gallbladder wall. Twenty-five (23.6%) had splenomegaly, and 7 (6.6%) had autosplenectomy. Four (3.8%) showed reduced corticomedullary differentiation in each kidney, five (4.7%) in each kidney had mild calyceal dilatation. One (0.9%) had mild calyceal dilatation with reduced corticomedullary differentiation with accompanying loss of renal sinus fat.Conclusion:Abdominal ultrasound imaging for patients with SCD showed a high incidence of abdominal abnormalities, especially in solid organs such as liver, kidney, and spleen.

Vestibular Evoked Myogenic Potential (VEMP) Test-retest Reliability in Children.

Vestibular evoked myogenic potentials (VEMPs) are short-latency muscle potentials measured from the neck (cervical VEMP; cVEMP) or under the eyes (ocular VEMP; oVEMP), which provide information regarding function of the saccule and utricle, respectively. VEMPs are reliable when performed in adults; however, reliability of VEMPs in children is unknown. Therefore, the purpose of the study was to determine the test-retest reliability of c- and oVEMP testing in normal control children. Prospective. Hospital. Ten adults, 14 adolescent children and 13 young children with normal hearing. c- and oVEMP testing were completed across two test sessions in response to air-conduction 500 Hz tone-burst and impulse hammer stimuli. Additionally, oVEMP was completed using eyes-open and eyes-closed conditions. Intraclass correlation coefficients were calculated to determine the reliability of c- and oVEMP outcomes. When using air-conduction stimuli, c- and oVEMP amplitudes are reliable across test sessions in normal control children and adults. With impulse hammer stimuli, cVEMP amplitudes showed high reliability; however, oVEMP amplitudes showed low reliability in both eyes-open and eyes-closed conditions. Comparison between eyes-open and eyes-closed oVEMP conditions revealed shorter latencies and higher peak-to-peak amplitudes in the eyes-open condition. In this small cohort of normal control children, cVEMPs are reliable using air-conduction and impulse hammer stimuli and oVEMPs are reliable using air-conduction stimuli in the eyes-open condition. oVEMP in eyes-closed conditions were less reliable compared with eyes-open conditions and resulted in a large number of absent responses.

Role of Echo and Tissue Doppler in Patients with Down Syndrome in Absence of Congenital and Acquired Heart Disease

To study the cardiac functions in Down syndrome children who did not have structural cardiac lesion by conventional and tissue Doppler echocardiography. Materials and methods: A total of 115 children with Down syndrome without anatomic heart disease and 55 normal control children were subjected to the assessment of right and left ventricular functions by both two-dimensional and tissue Doppler echocardiography. Ds might have been diagnosed Eventually Tom's perusing a karyotype test. Patients for morus rubra kind were not incorporated in this consider. Youngsters for down syndrome needed fundamentally higher cleared out ventricular launch portion distinguished Toward two-dimensional echocardiography Also left ventricular diastolic brokenness distinguished by tissue doppler over watched in the controls. On addition, Youngsters for down syndrome additionally needed correct ventricular systolic and diastolic dysfunctions. Kids for down syndrome needed essentially higher pulmonary conduit systolic weight over those control Youngsters These discoveries recommend customary tissue doppler Furthermore two-dimensional echocardiography were handy systems of investigating ventricular capacity and recognizing An higher occurrence for biventricular brokenness On patients with down syndrome compared with those solid controls.

Evaluation of insulin-like growth factor-1, total ghrelin, and insulin resistance in nutritionally stunted Egyptian children

Stunting represents a worldwide nutritional problem, which has many negative effects on child health and development. This study aimed to investigate the levels of insulin-like growth factor-1(IGF-1), total ghrelin and insulin resistance, as well as certain micronutrients affecting children growth and skeletal maturity in nutritionally stunted Egyptian children. Stunted children were selected to have height for age Z score (HAZ) -2. Stunted children were further classified according to weight for age Z score into normal and underweight groups. All stunted children exhibited significantly lower serum levels of IGF-1, Ca, and Mg compared to normal control children. Additionally, both normal weight and underweight groups showed insignificantly higher total ghrelin levels than the control values. Only stunted underweight children showed significantly lower serum Zn levels compared to control children. Meanwhile, no significant differences were observed in serum glucose and insulin levels, pancreatic beta cell function and insulin resistance between different study groups. In conclusion, these findings highlight the importance of early detection of abnormalities in growth hormone / IGF-1 axis and micronutrients levels in hope that appropriate intervention strategies could improve their status to obtain full growth potential in nutritionally stunted Egyptian children.

Molecular expression and functional analysis of genes in children with temporal lobe epilepsy.

Temporal lobe epilepsy is the most common form of epilepsy. However, for this type of condition, antiseizure medication is not effective for children. As miRNAs are involved in the development of temporal lobe epilepsy in children, they may provide potential therapeutic approaches for treatment. The primary aim of this study was to explore the expression and function of miR-135a-5p in children with temporal lobe epilepsy. Hippocampal slices from either normal (control) children or children with temporal lobe epilepsy were used to detect the expression of miR-135a-5p and its target gene caspase activity and apoptosis inhibitor 1. To further explore the role of miR-135a-5p in the development of temporal lobe epilepsy in children, primary hippocampal neurons from newborn rats were cultured in vitro in a magnesium-free medium to mimic the temporal lobe epilepsy condition in children. The effect of transfection of miR-135a-5p inhibitor into cells was also assessed. Apoptosis and proliferation of hippocampus cells was respectively assessed by flow cytometry or 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. The level of miR-135a-5p was significantly increased in both children with temporal lobe epilepsy and the epileptiform discharge model that employed newborn rat hippocampal neurons; whereas, the expression of caspase activity and apoptosis inhibitor 1 was downregulated by overexpression of miR-135a-5p. Moreover, miR-135a-5p mediated the pro-apoptotic effect of temporal lobe epilepsy via repressing caspase activity and apoptosis inhibitor 1 expression. Additionally, miR-135a-5p reduced cell survival in the temporal lobe epilepsy condition. Overexpression of miR-135a-5p induced cell apoptosis through inhibition of caspase activity and apoptosis inhibitor 1 expression and suppressed cell survival in children with temporal lobe epilepsy.

M5 - GENETIC OVERLAP BETWEEN ADHD AND ASD IN SHANK GENES IN CHINESE POPULATION

Background Attention Deficit/Hyperactivity Disorder (ADHD) is characterized with inattention, hyperactivity and impulsivity, while Autism Spectrum Disorder (ASD) is characterized with impaired social communication and interaction, restricted and repetitive patterns of behavior and activities. Phenotypically, both appear to be quite different. However, clinically it has been found that 20–50% ADHD children meet diagnostic criteria for ASD, while 30–80% ASD children meet diagnostic criteria for ADHD. These rates of comorbidity between the two disorders imply that they may share underlying etiologies. Although recent evidence has suggested a genetic overlap between ADHD and ASD, little progress has been made so far to identify the specific genes involved. The shank synaptic scaffold proteins, which are encoded by SHANK genes and located at the post-synaptic density of glutamatergic synapses, have been reported to be associated with a number of psychiatric disorders, including ADHD and ASD, separately. The aim of the current study is to investigate whether there is a genetic overlap between ADHD and ASD in SHANK genes. Methods In the present study, only male children with Chinese ethnicity, aged between 6 to 12 years, were included. 298 ADHD family trios (including ADHD children without ASD and their biological fathers and mothers), 134 ASD children without ADHD, and 109 children with both ASD and ADHD were recruited from public hospitals in Hong Kong. 232 normal control children were recruited from local primary schools. A number of single-nucleotide polymorphisms (SNPs) from SHANK2 and SHANK3 were selected for genotyping. After quality control, 14 SNPs from SHANK2 and 7 SNPs from SHANK3 were included for data analyses. For ADHD family trios’ data, we constructed ADHD cases and matched pseudo-control, which were based on transmitted and un-transmitted parental alleles using the Haplotype-Relative-Risk (HRR) principle. The pseudo-control supplemented the normal control to increase the statistical power. Likewise, ASD children with or without ADHD were also paired with samples of normal control and pseudo-control for association analysis. PLINK and KGG were used for statistical association analyses at SNP-level and gene-level, respectively. Results When association analysis was done between ADHD children without ASD and samples of normal control and pseudo-control, the T allele of rs7106631 of SHANK2 significantly decreased the ADHD risk (p=0.001, OR=0.70). When allele frequencies’ comparisons were conducted between ASD children with or without ADHD and samples of normal control and pseudo-control, the same protective effect of rs7106631 T allele was identified with OR=0.74 (p=0.011). Further association analysis conducted between all clinical children (i.e., ADHD children without ASD & ASD children with or without ADHD) and samples of normal control and pseudo-control yielded more significant results for rs7106631 (p=0.0003, OR=0.72). Additionally, significant associations were found for other SHANK2 SNPs, namely, rs7113016 (p=0.027), rs1073294 (p=0.008), rs11236616 (p=0.003), rs10899158 (p=0.048), and rs9888288 (p=0.004). However, no significant result was detected for SNPs of SHANK3. Subsequent gene-level analysis based on whole dataset suggested the significant role of SHANK2 in both ADHD and ASD (gene-level p=0.003). Discussion Consistent with previous findings in Western populations, this current study provides additional evidence for the significant association of SHANK2 with ASD from a Chinese population. A new finding rarely reported in previous studies is the association of SHANK2 with ADHD. This implies a shared genetic susceptibility between ADHD and ASD. Both disorders do share a number of characteristics, including male preponderance, increased level of oxidative stress, and abnormal neuronal connectivity, reflecting potentially common underlying neurodevelopmental abnormality. Speculatively, the identification of SHANK2 from this current candidate gene study as associating to both ADHD and ASD may provide the common genetic etiology to explain their shared characteristics and higher-than-chance comorbidity. Further studies examining the functional abnormalities of the identified gene, SHANK2, are warranted in the future.

Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.

To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infantile osteopetrosis and normal children, and to assess the influence of hematopoietic stem cell transplantation on the optic canal diameter. Twenty pediatric patients with malignant infantile osteopetrosis and 22 normal control children were included in this study. Eleven patients with malignant infantile osteopetrosis underwent hematopoietic stem cell transplantation. The measurements included optical canal diameter and flash visual evoked potential. Comparisons of these measurements between patients with malignant infantile osteopetrosis and normal controls as well as before and after hematopoietic stem cell transplantation were performed. The correlation between age and optic canal diameter was analyzed using Pearson correlation analysis. The mean optic canal diameter before hematopoietic stem cell transplantation was 1.65 ± 0.54 mm in patients with malignant infantile osteopetrosis and 3.38 ± 0.60 mm in the control group (P < .001). The mean optic canal diameter after hematopoietic stem cell transplantation was 2.72 ± 0.66 mm, which was significantly different from the pre-transplantation measurement (P < .001). The P2 latency for the flash visual evoked potential after hematopoietic stem cell transplantation (152.3 ± 36.4 ms) was significantly less than that before transplantation (165.5 ± 27.7 ms; P = .051). Pearson correlation analysis revealed a significant correlation between age and optic canal diameter (r = 0.722, P < .001). The optic canal was narrower in pediatric patients with malignant infantile osteopetrosis than in age-matched normal controls. This condition can be relieved through hematopoietic stem cell transplantation and the impaired conductibility of the optic nerve can be improved in some cases. [J Pediatr Ophthalmol Strabismus. 2019;56(1):35-42.].

Signal-Adaptive Denoising Of Event-Related Potentials.

In the present study we propose a data-driven, fully unsupervised denoising approach for multi-trial univariate signals. The proposed methodology is based on Empirical Mode Decomposition (EMD) and hence also applicable for transient or non-stationary signals. The rationale of the presented method is that different realizations (multiple trials) of the same underlying process have also similar intrinsic signal components. These components may be extracted by EMD for each single realization and finally, the entirety of all signal components forms clusters of corresponding components with similar spectral characteristics. A denoising is then tantamount to identifying the cluster(s) containing high-frequency noise components. The effectiveness of the proposed methodology is demonstrated on the basis of visual event-related potentials (ERPs) of dyslexic and normal control children. We could show that the novel method allows for a reliable ERP estimation and that it provides a tool for an objective extraction of ERPs on both a single-subject as well as on a single-trial basis.