Background: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce. Methods: This is a multicentre descriptive case series of 21 patients comprising all MPS IVA patients in Malaysia. Mutational analysis was performed by PCR and Sanger sequencing of the GALNS gene in 17 patients. Results: The patients (15 females and 6 males) had a mean age (± SD) of 15.5 (± 8.1) years. Mean age at symptom onset was 2.6 (± 2.1) years and at confirmed diagnosis was 6.9 (± 4.5) years. The study cohort included patients from all the main ethnic groups in Malaysia – 57% Malay, 29% Chinese and 14% Indian. Common presenting symptoms included pectus carinatum (57%) and genu valgum (43%). Eight patients (38%) had undergone surgery, most commonly knee surgeries (29%) and cervical spine decompression (24%). Patients had limited endurance with lower mean walking distances with increasing age. GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. Of these, eight were novel mutations (Tyr133Ser, Glu158Valfs*12, Gly168*, Gly168Val, Trp184*, Leu271Pro, Glu320Lys, Leu508Pro). Mutations in exons 1, 5 and 9 accounted for 51% of the mutant alleles identified. Conclusions: All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis.

Introduction: Parents play an essential role in the success of their children’s tuberculosis (TB) treatment. They faced many challenges from the initial children’s health status changes until completing the TB treatment. The challenges were also described as perceived barriers, according to the Health Belief Model (HBM). This study aims to explore parents’ experiences on the challenges in achieving a successful TB treatment for their child in two districts of Selangor, Malaysia. Methods: The research was carried out using the phenomenology study design. In-depth interviews were conducted among purposely sample primary caregivers of children with TB disease who have completed TB treatment or still under treatment. MyTB version 2.1 data were sought from TB Unit, Selangor Health State Department for Klang and Petaling districts. The participants were selected based on the registration year of 2017 to 2019. The collected data was considered as achieving its saturation level if no new themes arise from the latest interviews session. The R-based Qualitative Data Analysis (RQDA) package version 0.2-8 was used for thematic data analysis. Results: The total number of participants in this study was fifteen mothers of children with TB disease. There were six main themes identified from this study, which were health symptoms challenges, TB investigation challenges, personal challenges, healthcare facilities challenges, administration medication challenges, and community challenges. Conclusions: Understanding the challenges faced by parents of children with TB disease is vital for improving the TB services and providing the required psychosocial support to the children’s family.

Introduction: The trends of tuberculosis (TB) treatment success rate among children in Malaysia plateaued at 90% from 2014 to 2017. Malaysia sets a higher treatment success target of 95% to be achieved in line with an affordable, accessible, and holistic approach in managing TB among children. Objective: This study aims to explore the parents’ experiences and perspectives toward achieving treatment success among children who were diagnosed with TB in two districts in Selangor state, Malaysia. Methods: The study was conducted using phenomenology study design via an in-depth interview of 15 mothers who were purposively sampled from the list of pediatric TB cases in the MyTB version 2.1 database in Klang and Petaling Districts of Selangor state. The R-based qualitative data analysis package of R version 0.2-8 was used to perform the thematic analysis. Results: Two main themes were identified from this study. The first theme was trust toward the healthcare services with the subthemes of acceptance, self-efficacy, holistic care, and perceived benefits. The second theme was the motivation to take or continue medication. The subthemes were support from family, healthcare workers’ (HCWs’) support, the convenience of healthcare services, community support, personal strength, and child’s character. Conclusion: TB treatment success for children can be achieved when parents develop trust in healthcare services and have strong motivational factors to remain steadfast in achieving a successful treatment goal. Psychosocial support should be provided to the primary caregiver who faced any difficulty, while good relationships between parents and HCWs should be maintained. These results will inform the TB program managers to strengthen the holistic approach and identify the motivational factors among parents of children with TB disease.