Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.

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.

Health-related quality of life profile of Indonesian children and its determinants: a community-based study.

BACKGROUND: Assessing health-related quality of life (HRQOL) and its determinants in children may provide a comprehensive view of child health. The study aimed to assess the HRQOL in Indonesian children and its determinants. METHODS: We conducted a community-based cross-sectional study in the Sleman District of Yogyakarta Special Province, Indonesia, from August to November 2019. We recruited children aged 2 to 18 years old using the Sleman Health and Demography Surveillance System sample frame. We used the validated Indonesian version of Pediatric Quality of life Inventory™ (Peds QL™) 4.0 Generic core scale, proxy-reports, and self-reports, to assess the HRQOL. RESULTS: We recruited 633 proxies and 531 children aged 2-18 years. The mean total score of self-report and proxy-report were 89.9+ 8.5 and 93.3 + 6.4. There was a fair to moderate correlation between self-reports and proxy-reports, with intra-class correlation ranging from 0.34 to 0.47, all p < 0.001. Half of the children (49.4% from proxy-report and 50.1% from self-report) reported having acute illness during the last month. Based on proxy-reports, multivariate regression analysis demonstrated lower HRQOL for children with acute health problems, younger age, history of low birth weight, abnormal delivery, lower fathers' educational level, and government-paid insurance for low-income families. CONCLUSION: Sociodemographic determinants of a child's HRQOL, acute health problems, and low birth weight were associated with lower HRQOL in the general pediatric population. In low- and middle-income countries where acute infections and low birth weight are still prevalent, its prevention and appropriate interventions should improve child health.

Factors related with the incidence of acute respiratory infections in toddlers in Sleman, Yogyakarta, Indonesia: Evidence from the Sleman Health and Demographic Surveillance System.

Various factors associated with Acute Respiratory Infections (ARI) in toddlers have been widely observed, but there are no studies using data from the Sleman Health and Demographic Surveillance System (HDSS). This study aimed to determine the factors associated with ARI in children under five in Sleman, Yogyakarta, Indonesia. This research was an observational analytic study with a cross-sectional design, using secondary data from the Sleman HDSS. Data of 463 children under five who met the inclusion and exclusion criteria were used in this study. Inclusion criteria were toddlers who have complete observed variable data. The variables observed were the characteristics of children under five, the attributes of the mother, the physical condition of the house, the use of mosquito coils, sanitation facilities, and sources of drinking water. The exclusion criteria were toddlers with pulmonary tuberculosis in the past year. Data analysis used chi-squared tests for bivariate analysis and multivariate logistic regression analysis. The results showed that working mothers had a greater risk of ARI under five children with OR 1.46 (95% CI = 1.01-2.11), and groundwater as a water source was a protective factor against the occurrence of ARI in toddlers with OR 0.46 (95% CI = 0.26-0.81). After a logistic regression analysis was performed, only the drinking water source variable had a statistically significant relationship with the incidence of ARI in children under five with OR = 0.47 (95% CI = 0.268-0.827). Research on the relationship between water quality and the incidence of ARI in children under five is needed to follow up on these findings.

Impact of universal health coverage on childhood cancer outcomes in Indonesia.

BACKGROUND: Starting from 2014, the Indonesian government has implemented Universal Health Coverage (UHC) with the aim to make healthcare services accessible and affordable to all Indonesian citizens. A major reason for childhood cancer treatment failure in low- and middle-income countries, particularly among families with low socioeconomic status (SES), is abandonment of expensive cancer treatment. Our study compared childhood cancer treatment outcomes of the overall, low, and high SES population before and after introduction of UHC at a large Indonesian academic hospital. METHODS: Medical records of 1040 patients diagnosed with childhood cancer before (2011-2013, n = 506) and after (2014-2016, n = 534) introduction of UHC were abstracted retrospectively. Data on treatment outcome, SES, and health-insurance status at diagnosis were obtained. FINDINGS: After introduction of UHC, the number of insured patients increased from 38% to 82% (P < 0.001). Among low SES population, insurance coverage increased from 40% to 85% (P < 0.001), and among high SES population from 33% to 77% (P < 0.001). In the overall population, treatment abandonment decreased from 36% to 22% (P < 0.001). Event-free survival estimates at four years after diagnosis of overall population improved from 16% to 22% (P < 0.001). Hazard ratio for treatment failure was 1.26 (CI: 1.07-1.48, P = 0.006) for uninsured versus insured patients. In the low SES population, treatment abandonment decreased from 36% to 19% (P < 0.001). Event-free survival estimates at four years after diagnosis of low SES population improved from 14% to 22% (P < 0.001). INTERPRETATION: Introduction of UHC in Indonesia contributed significantly to better treatment outcome and event-free survival of children with cancer from low SES families.