The number of laboratory-confirmed CRS cases among Indonesian infants is high. Furthermore, hearing impairment is the most common clinical feature of CRS in infants. Our findings indicate the importance of implementation of rubella vaccine in Indonesia. Conducting hospital-based surveillance of CRS in other hospitals in Indonesia may be appropriate. What is Known: •Congenital rubella syndrome (CRS) has serious consequences in infants resulting from rubella virus infection during pregnancy. •The incidence of CRS in most developed countries has greatly decreased since implementation of rubella vaccination. •Rubella vaccine has not yet been implemented in many developing countries. What is New: •The number of laboratory-confirmed CRS cases among Indonesian infants was high. •Implementation of rubella vaccine into immunization programs in Indonesia is important because of the high number of CRS cases. •Our study highlights the need for ongoing prospective surveillance of CRS in Indonesia.

ObjectiveDuchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy is tailored to specific mutations, thus molecular diagnostics are particularly important. This study aimed to detect the DMD gene deletion in Indonesian DMD/BMD patients and analyze the potential amenability by exon skipping therapy.ResultsThirty-four male patients were enrolled in this study, 23 of them (67.6%) underwent muscle biopsy and showed the absence or partially expressed dystrophin protein in immunohistochemistry staining. All patients had very high serum CK levels (10.529 ± 9.97 IU/L). Multiplex PCR revealed the DMD gene deletions in 15 (44.1%) cases. Seventy-eight percent of deletions were clustered in the hot-spot region of exon 43 to 52. Furthermore, seven (20.5%) patients were potentially amenable to exon skipping treatment. Therefore, multiplex PCR is one feasible method to detect DMD gene deletion in Indonesian DMD/BMD patients that can further determine the potential amenability of exon skipping therapy. In addition, this study is the first report of DMD gene deletion analysis in Indonesia.

The incidence of CRS in infants in Yogyakarta Indonesia is considered high, with most clinical manifestations being CHD, hearing impairment and congenital cataract. This emphasizes the necessity for epidemiological study of CRS in other hospitals and the importance of establishing a national rubella vaccination program in Indonesia.

Background Brain abscess is a severe infection of brain parenchyma, which occurs in 25-46% of cases of uncorrected cyanotic congenital heart disease. Low arterial oxygen saturation is the main risk factor for brain abscess in children with cyanotic congenital heart disease, however, the arterial oxygen saturation test is invasive and not routinely done in our setting. Objective To evaluate low peripheral oxygen saturation as a risk factor for brain abscess in children with cyanotic congenital heart disease. Methods We conducted a matched, case-control study at Sardjito Hospital, Yogyakarta for children aged less than 18 years with cyanotic congenital heart disease, from 2010-2016. Case subjects were children with brain abscess complications. The control group had only cyanotic congenital heart disease, and were matched for age and sex to the case group. During hospitalization due to the brain abscess complication in the case group, data regarding peripheral oxygen saturation, polycythemia, pneumonia, sepsis, dental caries and restricted pulmonary blood flow were collected and compared between both groups. Results During the study period, 18 children with cyanotic congenital heart disease had brain abscesses. This group was compared to the control group of 36 children. Bivariate analysis revealed that the lowest level of peripheral oxygen saturation (OR 0.92; 95%CI 0.85 to 0.98; P=0.02) and dental caries (OR 3.3; 95%CI 1.01 to 11.18; P=0.04) were significant risk factors for brain abscess. However, in the multivariate analysis, the only statistically significant risk factor associated with brain abscess was the lowest level of peripheral oxygen saturation (OR 0.92; 95%CI 0.86 to 0.99; P=0.04). Conclusion Low peripheral oxygen saturation is a significant risk factor for brain abscess development in children with cyanotic congenital heart disease.  A decrease of 1% peripheral oxygen saturation may increase the risk of brain abscess by 8%.

Background: Congenital rubella syndrome (CRS) is a fatal disease causing severe congenital defects. Indonesia had the highest CRS cases in the world in 2016 with a commitment to achieve elimination of rubella disease by 2020, through the campaign and introduction of measles rubella (MR) national vaccination program in 2017 and 2018. This study aimed to describe the impact of the national vaccination campaign by conducting surveillance of CRS cases and comparing the incidence of new CRS cases before and after the MR vaccination campaign. Methods: From July 2015 to July 2020, we conducted surveillance of CRS in Yogyakarta. Suspected patients underwent complete clinical examinations. Serology was tested for the presence of IgM and IgG antibodies against rubella. Descriptive analysis was used to characterize the demographic and clinical characteristics of the cases before and after the MR vaccination campaign. Results:The study involved 229 infants who were suspected for CRS. Laboratory-confirmed cases were found in 47 of them (20.86%). Most of the laboratory-confirmed cases (55.3%) were reported among 1-5 months old infants. Common clinical features among laboratory-confirmed cases included structural heart defects in 43 (91.4%). There was a significant decrease (60.9%) of CRS incidence from 0.39 per 1000 live births in the precampaign era to 0.08 in the postcampaign era (P = 0.00). Conclusion:There has been a significant declining number of CRS cases based on pre-and post-MR vaccination campaign in Yogyakarta, Indonesia. An effective surveillance system will help monitor the number of CRS cases.

Introduction: Epilepsy is a worldwide and common child health problem. One of its complications is cognitive impairment that will impact on children’s cognitive development and quality of life. The objective of this study is to find out whether epilepsy affects cognitive function in children. Material and Methods: This was a cross-sectional descriptive study using secondary data from medical records. We collected data from children with epilepsy from 2004 until 2014 that have been actively managed in the Growth and Development Clinic, Sardjito General Hospital, Yogyakarta, Indonesia. Cognitive function referred to low IQ score that was gained from patients’ data. We analyzed the data using Fischer’s exact and two-sample Kolmogorov-Smirnov test methods. Results: Among 40 data samples, there were 19 patients (42.5%) with cognitive impairment (IQ < 70) and 21 patients (57.5%) without cognitive impairment (IQ ≥ 70). There were twenty-five patients examined by the Stanford-Binet IQ test, which found 15 patients with cognitive impairment. In fifteen patients who were examined with the WISC test, we found more children with epilepsy without cognitive impairment (11 patients). Comorbidity with neuro-developmental disorder significantly affected cognitive impairment in children with epilepsy (p value = 0.034, 95% CI 1.08-21.76). Conclusions: More children with epilepsy without cognitive impairment were found. Further studies are needed with larger number of samples utilizing a prospective study design to better determine the association of epilepsy in children and cognitive impairment.

Latar belakang. Meningitis bakterialis merupakan salah satu penyebab morbiditas dan mortalitas yang penting pada anak. Anak dengan meningitis biasa datang ke rumah sakit dan mendapat antibiotik intrakranial tanpa menunggu hasil kultur. Hal ini dilakukan karena membedakan meningitis bakterialis dan meningitis bukan bakteri pada awal perjalanan penyakit terkadang sulit. Beberapa indikator dapat digunakan untuk membedakan hal itu. Salah satunya adalah bacterial meningeal score (BMS), terdiri dari pengecatan gram cairan serebrospinal positif, protein cairan serebrospinal ≥80 mg/dL, neutrofil darah tepi ≥10.000 sel/mm3, riwayat kejang, neutrofil absolut cairan serebrospinal ≥1000 sel/ mm3.Tujuan. Mengetahui apakah bacterial meningeal score merupakan indikator yang baik untuk menegakkan diagnosis meningitis bakterialis akut pada bayi dan anakMetode. Uji diagnostik pada anak usia >1 bulan-18 tahun, yang dicurigai sebagai meningitis berdasarkan kriteria WHO, mulai Februari 2011 sampai dengan April 2011. Diagnosis meningitis bakterialis ditegakkan apabila hasil kultur ditemukan bakteri.Hasil. Di antara 31 anak subjek penelitian, 16 laki-laki. Semua datang dengan demam, kejang (29/31), penurunan kesadaran (15/31), dan tanda meningeal (17/31). Pengecatan gram positif pada 9/31 sampel dan kultur positif 12/31 sampel. Hasil analisis statistik didapatkan sensitivitas BMS 83,3%, spesifisitas 89,5%, nilai praduga negatif 83,3%, nilai praduga positif 89,5%, likelihood ratio positif 7,92, dan likelihood ratio negatif 0,186. Bakteri yang tumbuh dari hasil kultur adalah P. aerogenosa, S.epidermidis and Paracoccus sp, Bacillus. Sp dan Enterococcus sp.Kesimpulan. Bacterial meningeal score merupakan indikator yang baik untuk menilai meningitis bakteri pada bayi dan anak karena memiliki sensitivitas, spesifisitas, nilai praduga negatif, nilai praduga positif, likelihood ratio positif dan likelihood ratio negatif yang tinggi.

Introductions Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscular disease marked by developmental delays due to mutations in the DMD gene, which encodes dystrophin. Brain comorbidity adds to the burden of limited mobility and significantly impacts patients’ quality of life and their family. The changes of expression of dystrophin isoforms in the brain due to DMD gene mutations are thought to be related to the cognitive and neurobehavior profiles of DMD. Objectives This cross-sectional study aimed to characterize cognitive and neurodevelopmental profiles of patients with DMD and to explore underlying genotype-phenotype associations. Methods Patients with DMD aged 5–18 years from Dr Sardjito Hospital and Universitas Gadjah Mada Academic Hospital from 2017–2022 were included. Multiplex ligation-dependent probe amplification and whole exome sequencing were used to determine mutations in the DMD genes. Cognitive function was measured by intelligence quotient testing using the Wechsler Intelligence Scale for Children and adaptive function tests with Vineland Adaptive Behavior Scales. The Autism Mental Status Exam and Abbreviated Conner’s Rating Scale were used to screen for autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD), respectively. Results The mean total IQ score of DMD patients was lower than that of the general population (80.6 ± 22.0 vs 100 ± 15), with intellectual disability observed in 15 boys (29.4%). Of the 51 patients with DMD, the Dp71 group had the lowest cognitive performance with a total IQ score (46 ± 24.8; p = 0.003), while the Dp427 group and Dp140 group’s total IQ scores were 83.0 ± 24.6 and 84.2 ± 17.5 respectively. There were no DMD patients with ASD, while 4 boys (7.8%) had comorbidity with ADHD. Conclusion Boys with DMD are at higher risk of intellectual disability. The risk appears to increase with mutations at the 3’ end of the gene (Dp71 disruption). Moreover, Dp71 disruption might not be associated with ADHD and ASD in patients with DMD.