Syndrome Children Research Articles

Autoantibodies Targeting Proteasome Subunit Alpha Type 1 in Autoimmune Podocytopathies.

The antibody against proteasome subunit alpha type 1 (PSMA1) is a podocyte autoantibody in idiopathic nephrotic syndrome (INS) children identified in our previous study. The aim of this study was to explore the characteristics of INS in children and the mechanism underlying its involvement in the development of INS. The levels of serum anti-PSMA1 autoantibodies in children were detected via protein microarray and compared among different disease groups. The recombinant PSMA1 protein was injected subcutaneously and intraperitoneally into mice to observe glomerular morphology and function. The PSMA1-knockdown and PSMA1-overexpressing cell lines were constructed from mouse podocytes, and their cytoskeleton and function were analyzed. Homozygous zebrafish with psma1 knockout were observed. The levels of serum anti-PSMA1 autoantibodies were higher in INS children and varied with urinary protein. In mice immunized with PSMA1, the presence of serum anti-PSMA1 autoantibody caused albuminuria and damage to the glomerular filtration membrane. Deficiency of PSMA1 impaired the podocyte cytoskeleton and physiological function. Complete deletion of psma1 caused edema, abnormal glomerular morphology and effacement of foot processes in zebrafish. PSMA1 played an important role in the maintenance of podocyte morphology and function.

Evaluation of thyroid profile among children aged 1-15 years with nephrotic syndrome: An observation study.

The interaction between the kidney and the thyroid is important for normal function of both organs. In nephrotic syndrome, proteinuria leads to loss of several proteins, which in turn causes hypothyroidism. To assess the thyroid function in children with nephrotic syndrome. This cross-sectional study was conducted in a tertiary center, Bhopal, from February 2020 to January 2021. Consecutive children aged 1-15 years admitted with nephrotic syndrome (first-time diagnosed and all relapse cases) were included in the study. A thyroid profile was sent along with routine investigations, and thyroid hormone status was assessed in nephrotic syndrome children. Of the 70 patients, 39 (55.7%) showed abnormal thyroid profiles; 19 (27.1%) had overt hypothyroidism, and 20 (28.6%) had subclinical hypothyroidism. Overt hypothyroidism was seen in 16.1% of newly diagnosed cases, 40% of second relapses, and 2.7% of frequently relapsed cases (P < 0.001). The mean serum free T3 and free T4 levels in frequent relapses were 2.50 ± 0.39 ng/dL and 0.78 ± 0.12 ng/dL, respectively, which were significantly lower than in newly diagnosed cases (2.77 ± 0.37 ng/dL and 0.91 ± 0.19 ng/dL, respectively). The mean thyroid-stimulating hormone (TSH) level was significantly higher in frequent relapses 5.86 ± 1.56 µIU/mL) and second relapse (5.81 ± 1.78 µIU/mL) than in newly diagnosed cases (4.83 ± 0.76 µIU/mL) and first relapse cases (4.74 ± 1.17 µIU/mL), (P < 0.01). An abnormal thyroid profile was commonly observed in children with nephrotic syndrome, and overt hypothyroidism was more common in frequent relapse cases. Therefore, thyroid screening should be a part of the management of nephrotic syndrome so that hypothyroidism can be detected and managed at an early stage.

Differences the Effectiveness of Using Conventional Toothbrush and Modified Toothbrush Handle (SIGIGA) in Reducing Debris Index With Children in Down Syndrome

Down syndrome children are mentally retarded and most of them have poor oral health and are unable to carry out dental hygiene independently due to cognitive and motor limitations. It was found that 83% of dental hygiene (debris index) was in the moderate category in children with Down syndrome. Efforts to improve dental hygiene can be done by using a modified toothbrush. The aim of the research is to determine the difference in the effectiveness of using a conventional toothbrush and a modified toothbrush with a handle (SIGIGA) in reducing the debris index in children with Down syndrome. This type of research is quasi-experimental. The sample size was 30 respondents from children with Down syndrome who were selected using a total sampling technique. The data collection instrument used was the debris index examination sheet. The data analysis techniques used are the Wilcoxon test and the Mann-Whitney test. The results of the Wilcoxon test to see the difference in plaque scores before and after treatment obtained significant results ρ (0.001) &lt; 0.05 in the conventional toothbrush group and the modified handled toothbrush group. The results of the Mann-Whitney test showed ρ (0.000) &lt; 0.05. This value shows that H0 is rejected, so there is a difference in the effectiveness of using a conventional toothbrush and a modified toothbrush with a handle (SIGIGA) in reducing the debris index in children with Down syndrome. Conclusions from the research : There is a difference in the effectiveness of using a conventional toothbrush and a modified toothbrush with a handle (SIGIGA) in reducing the debris index in children with Down syndrome.

Anaesthesia Management of Shwachman - Diamond Syndrome Child Posted for Dental Rehabilitation

Anaesthesia Management of Shwachman - Diamond Syndrome Child Posted for Dental Rehabilitation

Social Support, Caregiver Burden, Quality of Life and Resilience Among Mothers with Down Syndrome Children in East Kalimantan: A Mixed Method Study

One effect of spending time with children who have Down syndrome is that parents may spend less time interacting with their surroundings. Parents' resilience and quality of life will both be impacted by this behavior. The study sought to ascertain the relationship between quality of life, resilience, carer load, and social support in mothers of children with Down syndrome. This study employed a hybrid methodology, with two phases in February and May of 2023: quantitative and qualitative. In the initial phase, 135 parents with DS children were involved. The qualitative phase involved 8 individuals after that. The quality-of-life variable has a strong correlation; however, it is correlated negatively, meaning that the variable's resilience decreases as quality-of-life increases. However, the variables measuring the burden of caring and social support show a negligible connection with a negative direction. This implies that the resilience variable decreases with increasing stress and increases with social support. Six themes surfaced in the qualitative stage in the meantime. Social support, caregiver burden, and quality of life influence the strengthening of parents who have DS children; therefore, protection service providers can consider parenting using this method as early detection in maintaining the resilience of parents who have DS children.

Feasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings.

Postcontrast magnetic resonance imaging (MRI), obtained under anesthesia, is often used to evaluate brain parenchymal and vascular abnormalities in young children, including those with Sturge-Weber syndrome. However, anesthesia and contrast administration may carry risks. We explored the feasibility and potential diagnostic value of a noncontrast, nonsedate MRI acquisition in Sturge-Weber syndrome children and their siblings with a wide range of cognitive and behavioral functioning. Twenty children (10 with Sturge-Weber syndrome and 10 healthy siblings; age: 0.7-13.5 years) underwent nonsedate 3-tesla (T) brain MRI acquisition with noncontrast sequences (including susceptibility-weighted imaging) prospectively along with neuropsychology assessment. All images were evaluated for quality, and MRI abnormalities identified in the Sturge-Weber syndrome group were compared to those identified on previous clinical pre- and postcontrast MRI. Nineteen participants (95%) completed the MRI with good (n = 18) or adequate (n = 1) quality, including all children with Sturge-Weber syndrome and all 5 children ≤5 years of age. The Sturge-Weber syndrome group had lower cognitive functions than the controls, and both groups had several children with behavioral issues, without an apparent effect on the success and quality of the MR images. Susceptibility-weighted imaging detected key venous vascular abnormalities and calcifications and, along with the other noncontrast sequences, provided diagnostic information comparable to previous clinical MRI performed with contrast administration under anesthesia. This study demonstrates the feasibility and the potential diagnostic value of a nonsedate, noncontrast MRI acquisition protocol in young children including those with cognitive impairment and/or behavioral concerns. This approach can facilitate clinical trials in children where safe serial MRI is warranted.

The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.

Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is crucial, especially in tribal societies with consanguineous unions. Ten families with confirmed inborn errors of immunity were studied, revealing diverse pregnancy decisions: An architect with autosomal dominant STAT-1 gain of function underwent prenatal diagnosis despite initial plans for preimplantation genetic diagnosis. In a consanguineous family, two children died from leukocyte adhesion deficiency type 1 because the father refused prenatal diagnosis. First cousins opted against terminating the second pregnancy, resulting in two children affected by Bruton disease. Another consanguineous couple, with two children afflicted by ataxia-telangiectasia, chose oocyte donation for their third child, ensuring a healthy birth. Recurrent pregnancy loss was observed in a mother subsequently diagnosed with ZAP70 deficiency. A mother with Wiskott-Aldrich syndrome child opted for in vitro fertilization, leading to a healthy birth post-prenatal diagnosis. A misdiagnosis of anaplastic anemia occurred in a family with multiple instances of Wiskott-Aldrich syndrome. A leukocyte adhesion deficiency type 1 case led to parental dissolution due to the father's refusal to acknowledge the condition. In a non-consanguineous couple, the father's diagnosis of TACI deficiency influenced the mother's decision to discontinue pregnancy post-prenatal diagnosis. Genetic diagnosis alone cannot optimize prenatal care for immune dysregulation disorders. Various factors, including patient education, societal norms, ethics, and economics, impact pregnancy decisions. Clinical immunologists must integrate these elements into guidance strategies to enhance patient outcomes.

Prevalence and associated factors of infection in children with nephrotic syndrome aged 2-18 years in the northwest and east Amhara region, Ethiopia: a multi-center cross-sectional retrospective study

BackgroundInfection is the most common complication of pediatric patients with nephrotic syndrome. The factors associated with infection in nephrotic syndrome are lacking. The objective of the study was to identify the prevalence and associated factors among children with nephrotic syndrome aged 2 to 18 years.MethodsWe conducted a hospital-based retrospective cross-sectional study. The data collector installed an Epi5 collector electronic data-collecting tool from Google Play. Then, we exported the data to Stata version 15.1 for analysis. The mean, standard deviation, frequency, and percentage were used for descriptive statistics. The logistic regression model was used to identify the factors associated with infection.ResultsIn this study, the prevalence of infection among nephrotic syndrome children is 39.8% (95%CI: 30.7, 49.7). The types of infection identified were pneumonia, urinary tract infection, diarrheal disease, cutaneous fungal infection, intestinal parasitic infection, and sepsis. The presence of hematuria increased the odds of infection by 5-times. On the other hand, low level of serum albumin increased the odds of infection by 7%. Being a rural resident increased the odds of infection by 3.3-times as compared to urban.ConclusionsSerum albumin level, presence of hematuria, and rural residence were significantly associated with infection. We recommended a longitudinal incidence study on large sample size at multicenter to strengthen this finding.

Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.

Children with constitutional mismatch repair deficiency (CMMRD) syndrome have an increased risk of high-grade gliomas (HGG), and brain imaging abnormalities. This study analyzes brain imaging features in CMMRD syndrome children versus those with HGG without CMMRD. Retrospective comparative analysis of brain imaging in 30 CMMRD children (20 boys, median age eight years, 22 with HGG), seven with Lynch syndrome (7 HGG), 39 with type 1 neurofibromatosis (NF1) (four with HGG) and 50 with HGG without MMR or NF1 pathogenic variant ("no-predisposition" patients). HGG in CMMRD and Lynch patients were predominantly hemispheric (versus midline) compared to NF1 and no-predisposition patients (91% and 86%, vs 25% and 54%, p = 0.004). CMMRD-associated tumors often had ill-defined boundaries (p = 0.008). All CMMRD patients exhibited at least one developmental venous anomaly (DVA), versus 14%, 10%, and 6% of Lynch, NF1, and no-predisposition patients (p < 0.0001). Multiple DVAs were observed in 83% of CMMRD patients, one NF1 patient (3%), and never in other groups (p < 0.0001). Cavernomas were discovered in 21% of CMMRD patients, never in other groups (p = 0.01). NF1-like focal areas of high T2-FLAIR signal intensity (FASI) were more prevalent in CMMRD patients than in Lynch or no-predisposition patients (50%, vs 20% and 0%, respectively, p < 0.0001). Subcortical and ill-limited FASI, possibly involving the cortex, were specific to CMMRD (p < 0.0001) and did not evolve in 93% of patients (13/14). Diffuse hemispherically located HGG associated with multiple DVAs, cavernomas, and NF1-like or subcortical FASI strongly suggests CMMRD syndrome compared to children with HGG in other contexts. The radiologic suggestion of CMMRD syndrome when confronted with HGGs in children may prompt genetic testing. This can influence therapeutic plans. Therefore, imaging features could potentially be incorporated into CMMRD testing recommendations. Using imaging to detect CMMRD syndrome early may improve patient care. CMMRD features include: hemispheric HGG with multiple developmental venous anomalies and NF1-like or subcortical areas with high T2-FLAIR intensity. We propose novel imaging features to improve the identification of potential CMMRD patients.

Interventions to Improve Sensory Tactile, Auditory, and Visual Down Syndrome Children by Families

Various interventions aimed at addressing sensory challenges are available for Down Syndrome children, but interventions made based on the results of sensory intervention are exciting challenges to research. This study aims to determine the improvement of sensory abilities through stimuli designed based on the results of sensory. This study used a pre-post quantitative method that measured the sensory skills of Down syndrome children. The study was conducted on 8 participants of Down Syndrome children for 12 months. Data analyzed using the Wilcoxon rank test obtained an Asymp value. Sig. (2-tailed) or p-value &lt; 0.05 so that the conclusion is rejected H0 or sufficient evidence that the pretest and post-test sensory development values are different and Asymp values are obtained. The application of examination-based sensory interventions reportedly provided significant improvements in sensory skills in 8 Down Syndrome children after receiving based interventions by following procedures and validated interventions in the form of guidance for parents for 12 months of routine home interventions.

The Role of Parents and Teachers In Maintaining Oral Health With Dental Caries in Children With Down Syndrome

Down syndrome it is also called trisomy 21 because it has three chromosomes on chromosome 21, whereas normal people only have two. This occurs because chromosome 21 cannot separate during the cell division process, resulting in individuals with 47 chromosomes. The physical and psychological limitations experienced by children with down syndrome cause a lower ability to maintain oral and dental health and result in a higher risk of dental caries compared to normal children. Several recent studies explain that the role of parents and teachers is needed to improve oral health maintenance in order to reduce the risk of dental caries in children with down syndrome. This research aims to determine the relationship between the role of parents and teachers in keeping oral health and dental caries in children with down syndrome in the North and East Surabaya areas. This type of research is a cross sectional analytical research with 37 down syndrome children, parents and teachers as respondents. The data collection instruments used were questionnaire sheets and DMF-T examination sheets. The technical data analysis uses the Spearman rank test and multiple regression. The results of the research show that there is a significant relationship between the role of parents and teachers in maintaining oral health and dental caries in children with down syndrome. Conclusion: More active role of parents and teachers is needed in reducing the rate of dental caries in children with down syndrome.

MATERNAL AGE INCREASES THE RISK OF DOWN SYNDROME: A CASE-CONTROL STUDY IN YOGYAKARTA, INDONESIA

Background: Down syndrome incidence increases year to year and ranks first in birth defect cases in Indonesia. Down syndrome birth may burden family physically, socially, economically, and emotionally. The most common risk factor associated to Down syndrome is maternal age. Objective: This research is conducted to understand the association between maternal age and parity as the risk factors of Down syndrome births. Methods: Analytical observation design with case-control approach is used in this study. Bivariate and multivariate analysis were calculated using Chi-Square and binary logistic regression test. Results: This research’s results showed significant association between maternal age as risk factor with the incidence of Down syndrome (p-value &lt; 0.001) and no significant association between parity with the incidence of Down syndrome (p-value &gt; 0.05) in Yogyakarta, Indonesia. Mothers aged ? 35 years have 18.82 greater risk to give birth Down syndrome baby compared to mothers aged &lt; 35 years (OR=18.82). The mean of maternal age when birth Down Syndrome children was 35.1 years old. Biological ovarium aging hypothesis presumed cause higher probability of chromosomal segregation failure during oocyte meiosis. Advanced maternal age naturally causes biological ovarium aging. Biological ovarium aging may caused or influenced by hormonal imbalance, limited oocyte pool, oxidative stress, change of spontaneous abortus mechanism, and genetic abnormality or mutation. No significant association between parity with the incidence of Down Syndrome (p-value=0.0689). Conclusion: Mothers with age of 35 year or older are the only the risk factor for having child with Syndrome Down in this research, with 18.82 more greater risk than mothers under 35 years old. The mean of maternal age when birth Down Syndrome children was 35.1 years old.

Exhaustive clinical examination of etiology and initial response to first-line treatment in 577 children with infantile epileptic spasm syndrome children: A 5-year retrospective observational study.

Employing whole-exome sequencing (WES) technology to investigate the etiology of infantile epileptic spasm syndrome (IESS), and determining whether different etiologies exhibit phenotypic variations, while elucidating the potential associated factors, might improve short-term responses to first-line treatment. We retrospectively evaluated patients with IESS admitted for treatment between January 2018 and June 2023. Clinical phenotypic differences among etiological classifications and clinical manifestations were analyzed. Variable selection using the best subset method was performed, followed by logistic regression analysis to identify the factors influencing treatment response. A total of 577 patients were included; 412 completed trio-WES. Magnetic resonance imaging abnormalities were detected in 387 patients (67.1%). Patients with etiology as structural abnormalities were likelier to have non-spasms at the initial seizure onset. A total of 532 patients completed the first-line treatment; 273 patients received it for the first time at our hospital (initial response rates: 30.1% and 42.1%, respectively). The response group had a lower proportion of early-onset seizures (≤3 months) than the no-response group (11.3% vs. 23.7%, p < 0.01 and 11.3% vs. 21.5%, p = 0.03, respectively). Logistic regression analysis indicated that earlier initiation of first-line treatment was associated with a higher likelihood of an initial response. However, the etiological classification did not have a significant impact on the initial response. IESS patients with structural abnormalities are more likely to present with non-spasm seizures at initial onset. Early initiation of first-line treatment is crucial; however, initial responses may be less favorable when seizures occur in early infancy.

Pragmatic Language in Children with Down Syndrom: A Systematic Review

Abstract Background: Down syndrome (SD) is the most common genetic disorder and the easiest to identify. SD or better known as the genetic disorder trisomy, where there is an extra chromosome on chromosome 21. Objectives: Analyzing pragmatic abilities in Down Syndrome children and learning materials in writing scientific research as well as providing additional information regarding pragmatic abilities in Down Syndrome children. Methods: The research carried out is a systematic review research. This research uses data from previous research. A quantitative systematic review combines findings from various independent studies, and produces a statistical summary of those findings (Last, 2001 in Murti, 2018). Results: Down syndrome children show conditions of intellectual problems that are continuous with language problems. Where cognitive abilities are the main capital in communication. Conclusion: Semantic-pragmatic communication abilities create core impairments in the narratives of children with Down syndrome. Pragmatic difficulties and deficits in global executive function when compared with children with other typical development.. Keywords: Pragmatic Language, Dwon syndrome, Systematic review

Description of Motor Function and Quality of Life in Down Syndrome Children

Description of Motor Function and Quality of Life in Down Syndrome Children

Risk Factors for Retinal Detachment in Marfan Syndrome After Pediatric Lens Removal

Purpose: To determine Retinal Detachment (RD) risk factors after lens removal surgery in children with Marfan syndrome.Design: Retrospective case control study.Methods:Setting: Institutional case-seriesStudy population: All children (<18 years) with Marfan syndrome that underwent lens removal surgery.Observation procedure: Clinical and surgical characteristics were extracted from children's electronic files: age, Axial Length (AL), gender, number of surgeries received, Intra Ocular Lens (IOL) implantation at the first surgery, complete removal of the capsular bag, final best corrected visual acuity.Main outcome measure: Risk factors associated with RD occurrence.Results: Among 158 eyes included (85 children), 35 eyes (22.2%) developed RD during follow-up. Bilateral detachment occurred in 11 patients (45.8%). Age at the time of the lens removal surgery was not different between groups. Children in the RD group had a higher AL (p<.001), longer follow-up, IOL implantation, and capsular residue. Multivariate analysis identified capsular residue (odds ratio [OR] 16.8; 95% confidence interval [CI], 1.9-148.8; P=0.01), and axial length by (OR 1.3; 95% CI, 1.01-1.7; P=0.03) as predictors for RD.Conclusion: Marfan syndrome children with increased AL were more likely to develop a RD after lens surgery. When considering lens removal surgery in a pediatric population presenting Marfan's syndrome, a complete capsular removal seemed to be the safer option regarding RD risk.

Family Self-Support in Managing Down Syndrome Children: A Qualitative Study.

Background and Aim. Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children with Down syndrome, they are required to receive their families' support. Therefore, the recognition of their problems and needs and also the alternatives for resolving them and promoting their life quality are very useful. Also, since very limited qualitative studies have been conducted, it seems necessary to design a qualitative study. Method. This qualitative study was conducted by the content analysis method and through purposeful sampling method with the participation of 26 participants including 15 mothers, 6 fathers, 3 sisters, and 2 brothers of DS children in 2022-2023. The data were collected through semi-structured interviews. Findings. Using the content analysis method of Graneheim and Lundman (2004), the main theme was "Family self-supporting in protecting Down syndrome children." The subthemes were seven including "trying to find information-support resources," "Giving importance to child's health," "religious beliefs of the family," "child moral education, helping to child's relative self-support," "developing familial support," and "developing child's social interactions." Conclusion and Recommendations. The findings of this study showed that family is the main source of fulfilling the needs of children and their life challenges through using efficient self-support methods. This study introduced family self-support methods in terms of DS children in a way that other families can also manage the problems of their children more efficiently. The present study can be used by trustees of DS to support them and their families. Considering the existence of many problems in children with Down syndrome and the involvement of families, it is suggested that policymakers and community health managers provide the basis for receiving services and social support. For example, it is possible to strengthen the screening systems in the country to diagnose the disease on time and take quick action to solve this problem. Also, by increasing the health insurance coverage and fair distribution of the support resources needed by these people, it promoted the quality of life for them and their families. Also, health policymakers in Iran can take action to increase life expectancy and reduce deaths caused by DS by improving the equitable distribution of health resources and services. Also, public policies should enhance supportive intermediation for prevention and life quality promotion and also decrease health challenges. They are also supposed to lessen the costs of health care. Furthermore, to support social organizations, health service providers and researchers should consider the development of intermediations for the health enhancing and life quality promoting of DS children.

#1093 Remission rates and long-term outcomes of relapsed idiopathic nephrotic syndrome children treated with cyclophosphamide vs. cyclosporin A

Abstract Background and Aims Approximately seventy percent of nephrotic syndrome (NS) children experience relapse episodes which are classified as frequently-relapsing nephrotic syndrome (FRNS), steroid-dependent nephrotic syndrome (SDNS), or steroid-resistant nephrotic syndrome (SRNS). In such cases, immunosuppressive drugs are combined to reduce the steroid side effects and prolong the remission period. However, the benefit of immunosuppressants and their side effects should be balanced. Objectives This study aimed to determine the remission rates and long-term outcomes of FRNS, SDNS, and SRNS children treated with cyclophosphamide vs. cyclosporin A (Cy A). Methods A retrospective review of medical records of children (aged &amp;lt; 15 years) with relapsed idiopathic nephrotic syndrome at Prince of Songkla University Hospital, southern Thailand during 2010-2021 was conducted. Demographic data, treatment responses, and adverse events were recorded. The remission rates, incidences of infection and acute kidney injury (AKI) in FRNS/SDNS and SRNS were compared between oral cyclophosphamide and Cy A treatments. Results There were 148 relapsed NS children, 102 (68.9%) boys, with a median age of 4.6 (IQR 2.5-8.4) years. FRNS, SDNS, and SRNS accounted for 37 (25.0%), 50 (33.8%), and 61 (41.2%) children, respectively. The cyclophosphamide treatment group (N = 135) had significantly higher remission rates in FRNS/SDNS than SRNS (63/85 (74.1%) vs. 11/50 (22.0%), P &amp;lt; 0.001), while the difference in remission rates in the Cy A treatment group (N = 53) was not statistically significant between FRNS/SDNS and SRNS (14/20 (70.0%) vs. 18/33 (54.5%), P = 0.265). Patients who had the Cy A treatment had significantly higher proportions of infections and AKI than children in the cyclophosphamide treatment group (20/53 (37.7%) vs 10/95 (10.5%), P &amp;lt; 0.001 and 21/53 (39.6%) vs 9/95 (9.5%), P &amp;lt; 0.001, respectively). Of the 148 children, at a median follow-up time of 8.7 (IQR 5.2–12.2) years, 21 (14.2%) and 9 (6.1%) children had developed chronic kidney disease (CKD) stage III or end-stage kidney disease (ESKD), respectively. The mean duration from CKD stage III to ESKD was 5.0+5.5 months. Conclusions Seventy percent of FRNS/SDNS children achieved remission with either Cy A or cyclophosphamide, but the SRNS children achieved remission proportionately better with Cy A than cyclophosphamide. However, the Cy A-treated children had higher proportions of infections and AKI than the cyclophosphamide treatment group. Overall, one-fifth of the relapsed childhood NS children developed CKD.

Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods.

The efficacy of stiripentol in Dravet syndrome children was evidenced in two randomized, double-blind, placebo-controlled, phase 3 studies, namely STICLO France (October 1996-August 1998) and STICLO Italy (April 1999-October 2000), but data were not fully exploited at the time. This post-hoc analysis used additional information, notably collected during the open-label extension (OLE) month, or reported by caregivers in individual diaries, to evaluate new outcomes. Overall, 64 patients were included (31 in the placebo group, 33 in the stiripentol group) of whom 34 (53.1%) were female. Patients' mean and median (25%; 75%) age were 9.2years (range 3.0-20.7years) and 8.7years (6.0; 12.1) respectively. At the end of the double-blind treatment period, 72% of the patients in the stiripentol group had a≥50% decrease in generalized tonic-clonic seizure (GTCS) frequency, versus 7% in the placebo group (P<0.001), 56% had a profound (≥75%) decrease versus 3% in the placebo group (P<0.001), and 38% were free of GTCS, but none in the placebo group (P<0.001). The onset of stiripentol efficacy was rapid, significant from the fourth day of treatment onwards. The median longest period of consecutive days with no GTCS was 32days in the stiripentol group compared to 8.5days in the placebo group (P<0.001). Further to the switch to the third month OLE, an 80.2% decrease in seizure frequency from baseline was observed in patients previously receiving placebo, while no change in efficacy was observed in those already on stiripentol. Adverse events were more frequent in the stiripentol group, with significantly more episodes of somnolence, anorexia, and weight decrease than in the placebo group. Altogether these new analyses of the STICLO data reinforce the evidence for a remarkable efficacy of stiripentol in Dravet syndrome, with a demonstrated rapid onset of action and sustained response, as also evidenced in further post-randomized trials.

Perkembangan Bahasa Pada Anak Sindrom Down : Tinjauan Pustaka Sistematis

Down syndrome is a common disorder. In Indonesia, cases of Down syndrome tend to increase every year. Down syndrome is a genetic disorder that causes children to have low cognitive and physical differences. One of the differences owned by down syndrome children is their language development. Therefore, this article was prepared to find out how language development in down syndrome children. This article was prepared using the systematic literature review (SLR) method, which contains how language development in children with Down syndrome, factors that affect language development in children with Down syndrome, and efforts that can be made to develop language skills in children with Down syndrome. This article explains that some Down syndrome children experience language delays, which are caused by genetic abnormalities and physical conditions such as a mouth cavity that is too narrow, a short palate, weak speech muscles and many more. To overcome language development in children with Down syndrome, several efforts can be made such as conducting speech and language therapy, and using the PECS method which has been proven effective in efforts to develop language in children with Down syndrome.