Paediatrica Indonesiana

Neonates with epidermolysis bullosa simplex: a case series

Fitri Amalia — 2025-04-25

Epidermolysis bullosa is a rare and currently incurable inherited disorders characterized by mechanical fragility of affected tissues which can be fatal. We describe two cases of neonatal Epidermolisis bullosa followed in the high risk neonates ward. The first case presented with bulla at one day after birth with amniotic band syndrome and the second case presented with bulla right after birth with neonatal infection.

Keyword: epidermolysis bullosa simplex, neonates

A novel PNP variant causes lymphopenia, hypouricemia and neurological deficit

Intan Juliana Abd Hamid — 2025-03-05

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive disorder of the purine metabolism and salvage pathway caused by mutations in the PNP gene. This disorder leads to progressive severe combined immunodeficiency (SCID) and neurological impairment. We report on identification of a 5-year-old Malaysian-Thai girl who presented with T–B–NK–SCID phenotypes and a novel PNP gene mutation. A full analysis of the clinical phenotypes, immunological investigations, and molecular study was performed.

She initially presented with spastic diplegia and isolated motor developmental delay. Her blood tests showed lymphopenia and profound hypouricemia, which prompted further investigations for purine deficiency. Urine purine nucleosides, including inosine, guanosine and deoxylated forms, were grossly elevated. The diagnosis was further confirmed by detection of low PNP enzyme activity in hemolysate. Analysis of the PNP gene revealed a novel homozygous mutation c.550C>T, p.(Gln184Ter). Our report highlights the importance of evaluating for SCID in patients presenting with lymphopenia, hypouricemia, and neurological manifestations.

Using complete blood count markers to predict febrile seizures

Ufik Maulena — 2025-04-25

Background The complete blood count test includes some markers of inflammation. Febrile seizures have been associated with inflammatory processes.

Objective To investigate for possible relationships between the occurrence of febrile seizures (FS) and complete blood count (CBC) parameters.

Methods Two hundred children aged 6-60 months presenting with fever at the Emergency Department between January 2022–August 2023 were included. These subjects were divided into a febrile seizures group (n = 100) and a control fever without seizures group (n =100). Demographic and complete blood count data were compared using logistic regression test.

Results The frequency of febrile seizures was significantly higher in younger children [mean age 23.89 (SD 15.88) months]. The febrile seizures group had lower lymphocyte counts but significantly higher white blood cell (WBC), neutrophils, platelets, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR) values than the control group. Multivariate analysis revealed that NLR (OR=0.84; P=0.001), PLR (OR=0.939; P=0.001), WBC (OR =0.773; P=0.001), neutrophil- platelet ratio (NPR) (OR=0.000; P=0.001), platelets (PLT) (OR=0.996; P=0.017), lymphocytes (OR=1.239; P=0.0001), and neutrophils (OR=1.047; P=0.022) had significant associations with febrile seizures while other parameters did not.

Conclusion Patients with febrile seizures had significantly higher levels of inflammatory markers, such as NLR, PLR, WBCs, PLTs, neutrophils, and NPR, and lower levels of lymphocytes than children with fever but no seizures, as determined by complete blood count findings.

Vitamin D3 and seizure frequency in children with epilepsy using polypharmacy

Setya Puspa Dewi Aprilyani — 2025-04-25

Background Children with epilepsy usually need vitamin D administration, primarily due to the effects of antiepileptic drugs (AEDs). The use of AEDs, particularly polypharmacy, can reduce serum 25(OH)D levels. Vitamin D improves the function of neurotransmitters furthermore boosting the seizure threshold. There has been relatively little study investigating the effects of vitamin D3 treatment on seizure frequency.

Objective To compare seizure frequency before and after administering vitamin D3 to the children with epilepsy who used polypharmacy.

Methods Sixteen children with epilepsy and polypharmacy, aged 2-18 years, from the Pediatric Neurology Clinic, Dr. Kariadi Hospital, Semarang, were studied using a quasi-experimental approach with one group pretest-posttest. The vitamin D3 was given orally for two months with different dosages according to age andsubjects’ pretest serum 25(OH)D levels. Children with vitamin D insufficiency or deficiency were giventherapy dosage, and the normal vitamin D status were given supplementation dosage.Seizure frequency, serum 25(OH)D levels, and vitamin D status were assessed before and after treatment.

Results Seizure frequency was significantly lower after vitamin D treatment for the entire group compared to pre- administration (P=0.019). For subjects with hypo-vitamin D levels pre-treatment, median seizure frequency was significantly decreased following normalization of vitamin D levels at one month (P=0.016) and two months (P=0.018) of vitamin D treatment. Using mean data, seizure frequency also significantly decreased at one month and at two months post-treatment.

Conclusion Vitamin D3 administration is associated with an increase in serum 25(OH)D levels, as well as a decrease in seizure frequency. Vitamin D3 administration can significantly reduce seizure frequency in epilepsy patients undergoing polypharmacy who are vitamin D deficient.

Risk factors for sleep disturbances and low quality of life in adolescents with epilepsy

Praevilia Margareth Salendu — 2025-04-25

Background Epilepsy impacts health-related quality of life and increases sleep disturbances. Duration of medication use, recurrent seizures, number of anti-epileptic drugs (AEDs), abnormal electroencephalography (EEG), and comorbidities are factors that might affect sleep and quality of life in adolescents with epilepsy.

Objective To analyze risk factors related to sleep disturbances and quality of life in adolescents with epilepsy.

Methods This analytical-observational study was performed in epilepsy outpatients treated between January – June 2024, of adolescent age, and had used AEDs for more than a year. Quality of life was evaluated using the Pediatric Quality of Life Inventory^TM (PedsQL^TM) – Epilepsy Module, and sleep disturbances were evaluated using the Sleeping Disturbance Scale for Children (SDSC) questionnaire. Fisher’s and Kolmogorov-Smirnov analyses were performed along with logistic regression for multivariate analysis.

Results Forty-eight patients participated in this study. Subjects’ mean age was 12.69 (SD 2.4) years and 54.2% of subjects were male. Mean duration of medication use was 2 years with the minimum interval of the last seizure episode occurring 1 week before observation. More than half of the patients (60.4%) had abnormal EEGs. Most patients were treated with monotherapy AED (81.3%). Seventy five percent of patients had low quality of life and 47.9% had sleep disturbances. In multivariate analysis, adolescents with abnormal initial diagnosis EEGs had 19.1 times higher risk of sleep disturbances (95%CI 3.3 to 110.4 P= 0.001) than those with normal EEGs. Among patients with abnormal EEGs, sleep disturbances increase the risk of low quality of life (OR 1.6; 95%CI 0.93 to 2.73; P=0.015) .

Conclusion Abnormal EEG was a significant risk factor for sleep disturbances and low quality of life in adolescent epilepsy patients.

Internet addiction and sleep disorder in adolescents in Makassar, Indonesia

Amelia Pranoto — 2025-04-25

Background Sleep disorders has been associated with bedtime activity, thus affected poor school performance, mood and behavioral disorders, as well as obesity. The increase of handheld media and internet use puts adolescents at higher risk of internet addiction. Increased screen time tends to increase the risk of sleep disorders.

Objective To provide an overview of internet addiction in Makassar teens and its possible association with sleep disorders in adolescents.

Methods This cross-sectional study was done in July to August 2021, in private junior high school, involved students aged 13-15 years. There were 196 questionnaires submitted, which was filled by the parents and the students. Data were collected online by Google form using the Kuesioner Diagnostic Adiksi Internet (KDAI) and the Sleep Disturbance Scale for Children (SDSC). Parents assisted and supervised the students while filling the questionnaire, except for the KDAI which was filled only by the student.

Results There were 85 students (43.4%) identified to have internet addiction by KDAI scoring; among them, 73 students (85.90%) had sleep disorders as identified by SDSC. Internet addiction (KDAI score) and sleep disorders (SDSC) were positively and significantly associated (OR 61.4%; 95%CI 95% 25.19 TO 149.86; P<0.000). There was also a strong positive correlation in KDAI score and SDSC score (r = 0.777; P=0.000).

Conclusion Internet addiction has a significant negative impact on sleep and was associated with sleep disorders in adolescents during the pandemic period.

The Indonesian version of the Early Childhood Screening Assessment (ECSA_INA) to screen for social, emotional and behavioral disorders in children

Elvira Rosana — 2025-05-02

Background The incidence of emotional, social, and behavioral disorders in children is quite high in the world, including in Indonesia. Therefore, earlier screening is necessary for effective treatment. Currently there is no screening tool for emotional, social, and behavioral disorders in children, especially toddlers, that has been validated in Indonesia. The Early Childhood Screening Assessment (ECSA) is a widely used and recommended instrument for children aged 1.5 - 5 years. This research aims to carry out a cross-cultural adaptation of ECSA in Indonesian (ECSA_INA) and assess its internal validity and reliability.

Methods The study consisted of 2 phases: transcultural adaptation and internal validity and reliability testing on parents of children aged 1.5-5 years The first phase consists of the forward translation of original instruments into Indonesian, synthesis from experts and backward translation to the original language and then discussion by experts. Furthermore, pre-testing was carried out in 6 parents of children aged 1.5-5 years. We conducted the second phase of the internal validity and reliability test on 70 parents of children aged 1.5 - 5 years. Each respondent filled in ECSA_INA 2 times, with an interval of 14 days. Furthermore, the data were analyzed statistically with the correlation test of Cronbach’s α, Intraclass Correlation Coefficient (ICC) and Pearson correlation.

Results The internal consistency was good (Cronbach’s α = 0.831). Test- retest reliability was good with intraclass correlation coefficient (ICC) of 0.867 (p<0.000). Overall internal validity is good.

Conclusion The ECSA_INA is a reliable and valid instrument for screening social, emotional and behavior in Indonesian children.

Associations between genomic copy number alterations and clinical and laboratory results in pediatric B-cell acute lymphoblastic leukemia

Mururul Aisyi — 2025-04-25

Background Copy Number Alterations (CNAs) are changes in DNA structure that lead to gain or loss of copies of DNA sections in the genome. They correlate with unfavorable prognostic outcomes in pediatric leukemia, influencing treatment resistance, relapse rates, and overall survival. Identifying high-risk patients with a likelihood of CNA positivity is essential for understanding its association with clinical characteristics and laboratory findings. Since routine CNA testing is costly, recognizing simple clinical and laboratory markers that predict CNA presence can help focus screening efforts, enabling more efficient risk stratification and prognosis assessment in acute leukemia

Objective To describe the characteristics and analyze for associations between CNA, clinical characteristics, and laboratory findings in pediatric ALL patients.

Methods This cross-sectional observational study included B-cell acute lymphoblastic leukemia (ALL) patients from three hospitals, excluding those above 18 years. Data collected encompassed demographics, clinical features, and laboratory results. We performed multiplex ligation-dependent probe amplification (MLPA) testing to identify CNA positivity.

Results From January to December 2019, there were 74 pediatric ALL patients incuded in our study; 26 of them had positive results and the remaining 48 had negative results. CNA-positive status was commonly found in subjects aged ? 5 years (38.6%), while CNA-negative status was highest in patients aged ? 10 years (72.7%). CNA-positive status was significantly higher in patients with lymphadenopathy, lower hemoglobin level (7.73 g/dL), and lower platelet level (52,019/µL) (P<0.05).

Conclusion Patients with lymphadenopathy, lower hemoglobin, and lower platelet levels are more likely to test positive for CNA. However, more research is needed to fully understand the implications of this finding and its potential impact on patient care.

Gut dysbiosis as a risk factor of neonatal sepsis among preterm infants

Putri Maharani Tristanita Marsubrin — 2025-04-25

Background Preterm infants are at high risk of developing sepsis. An imbalance between the normal gut and pathogenic microbiomes, known as dysbiosis, has been proposed as a condition that leads to neonatal sepsis.

Objective To assess for an association between gut dysbiosis and neonatal sepsis.

Methods A prospective cohort study was conducted involving very preterm or very low birth weight infants admitted to the Neonatal Unit, Cipto Mangunkusumo Hospital, Jakarta, from November 2019 to January 2021. The primary outcome was proven and/or clinical neonatal sepsis. The independent variable was gut dysbiosis, defined as a ratio of normal-to-pathogenic gut microbiome <1.0. Gut microbiome analysis was performed using a polymerase chain reaction test from a fecal specimen. Multivariate analysis using multiple logistic regression was conducted with adjustments for potential confounders.

Results Forty-three infants were recruited during the study period, with a median gestational age of 30 (range 25-36) weeks and birth weight of 1,170 (range 630-1855) grams. Among them, 28 (65.1%) infants had dysbiosis and 25 (58.2%) developed sepsis. The incidence of sepsis was higher among infants with dysbiosis (20 infants; 71.4%) than those without dysbiosis (5 infants; 33.3%). Dysbiosis and hemodynamically significant patent ductus arteriosus increased the risk of sepsis, with aOR 6.93 (95%CI 1.04 to 46.14; P=0.045) and aOR 22.7 (95%CI 1.45 to 355.29; P=0.026), respectively, after adjusting for sex, birthweight, maternal and infant morbidities, as well as maternal and infant vitamin D status.

Conclusion Gut dysbiosis is a risk factor for neonatal sepsis. Maintaining the balance of the gut microbiome is essential from the first day of life.

Score for Neonatal Acute Physiological Evaluation with Perinatal Extension (SNAPPE II) as a predictor of mortality from neonatal sepsis

Claudia Vanessa Quispe Castañeda — 2025-04-25

Background Sepsis is considered one of the leading causes of neonatal mortality. In the quest to reduce neonatal mortality, it is crucial to identify factors that increase the risk of death in neonates. The use of tools such as assessment scales allows us to identify neonates at higher risk of mortality. The SNAPPE II scale might be a predictive factor for mortality in this age group, could be considered as a tool to be used in all neonatal ICU (NICU). Objective To determine whether SNAPPE II, with a score of ? 40 points, is a good predictor of mortality due to neonatal sepsis.

Methods A retrospective cohort study was conducted on 162 term neonates diagnosed with neonatal sepsis at the Víctor Lazarte Echegaray Hospital, within the neonatal intermediate care unit (NIMCU) and NICU, from 2021 to 2023. The SNAPPE II scale was applied to all subjects, and scores were analyzed for potential associations with subject mortality.

Results The SNAPPE II score was associated with mortality in neonatal sepsis. Multivariable logistic regression analysis revealed a significant association at cut-off of ? 40 pints between higher score and subject mortality (aOR=1.29; 95%CI 1.13 to 1.56; P<0.001). Additionally, we found that mechanical ventilation was an independent predictor of mortality from neonatal sepsis (aOR=1.48; 95%CI 1.46 to 151.9; P<0.01).

Conclusion The SNAPPE II score with a cut-off of 40 points is a good predictor of mortality in neonatal sepsis.