INTRODUCTION: Obstructive sleep apnoea (OSA) is common in Singapore, with moderate to severe OSA affecting around 30% of residents. These consensus statements aim to provide scientifically grounded recommendations for the management of OSA, standar-dise the management of OSA in Singapore and promote multidisciplinary collaboration. METHOD: An expert panel, which was convened in 2024, identified several areas of OSA management that require guidance. The expert panel reviewed the current literature and developed consensus statements, which were later independently voted on using a 3-point Likert scale (agree, neutral or disagree). Consensus (total ratings of agree and neutral) was set a priori at ≥80% agreement. Any statement not reaching consensus was excluded. RESULTS: The final consensus included 49 statements that provide guidance on the screening, diagnosis and management of adults with OSA. Additionally, 23 statements on the screening, diagnosis and management of paediatric OSA achieved consensus. These 72 consensus statements considered not only the latest clinical evidence but also the benefits and harms, resource implications, feasibility, acceptability and equity impact of the recommendations. CONCLUSION The statements presented in this paper aim to guide clinicians based on the most updated evidence and collective expert opinion from sleep specialists in Singapore. These recommendations should augment clinical judgement rather than replace it. Management decisions should be individualised, taking into account the patient's clinical characteristics, as well as patient and caregiver concerns and preferences.
Humans ; Sleep Apnea, Obstructive/diagnosis* ; Singapore ; Consensus ; Adult

Background & Objective: SCN1A gene which encodes for sodium channel alpha 1 subunit has been found to be the most common mutated gene in patients with epilepsy. This study aims to characterize the SCN1A mutations as well as to describe genotype and phenotype association in children with SCN1Arelated infantile-onset epileptic encephalopathies in Malaysia. Methods: Children with infantile-onset epileptic encephalopathy mostly suspected to have Dravet syndrome who had mutational analysis for SCN1A gene from hospitals all over Malaysia were included in the study. Their epilepsy syndrome diagnosis was classified into severe myoclonic epilepsy in infancy and its variants. Polymerase chain reaction and bidirectional sequencing were used to identify SCN1A mutations. Results: A total of 38 children with heterozygous mutations were analysed, 22 (57.9%) of which were novel mutations. Truncated mutations were the most common mutation type (19, 50%). Other mutation types were missense mutations (14, 36.8%), splice site mutations (4, 10.5%) and in-frame deletion (1, 2.6%). The mean age of seizure onset was 4.7 months. Seizure following vaccination was observed in 26.3% of the children. All of them had drug resistant epilepsy. There was no significant association between the type of mutation with the syndromic diagnosis, age of seizure onset, tendency of the seizures to cluster or having status epilepticus, mean age when developmental delay was observed and response to various antiepileptic drugs. Conclusion: This study expands the spectrum of SCN1A mutations and proves the importance of SCN1A gene testing in diagnosing infantile-onset epileptic encephalopathies patients. Although, our study does not support any clinically meaningful genotype-phenotype association for SCN1A-related infantile-onset epileptic encephalopathies, the clinical characteristics of our cohort are similar to those that have been described in previous studies.

Objective: We aim to study the prevalence and predictive factors for hip displacement, in order to justify a hip surveillance programme for children with cerebral palsy (CP) in Malaysia. Methods: Children aged 2 to18 years old with CP were recruited from September 2013 till June 2014. The hip joint migration percentage (MP) and acetabular index (AI) were measured on all hip radiographs. The CP subtype was determined and gross motor function was classified according to the gross motor function classification system (GMFCS). Results: Seventy-five children were recruited. Fifty-five percent of them had marked hip displacement with MP > 30% and 15% developed hip dislocation (MP=100%). Marked hip displacement occurred as early as age of 2 years and most hip dislocations were detected by age of 10 years. The risk of marked hip displacement was directly related to the GMFCS level, from none in GMFCS I to 75% in GMFCS V. There was a moderate positive correlation between the initial AI and initial MP. Conclusions: One in every two children with CP was at risk of hip displacement, with GMFCS level and initial AI as significant predictive factors. We recommend a hip surveillance programme for Malaysian children with CP, based on the child’s age and GMFCS level, with both MP and AI as indicators for hip surveillance.
Cerebral Palsy ; Hip Dislocation

Introduction: Awareness for paediatric palliative care has resulted in the impetus for paediatrician-led palliative care services across Malaysia. However, there is paucity of local data on patients receiving hospital-based paediatric palliative care. We aim to review the clinical spectrum of patients referred to these services. Methods: An observational study of children aged between 0-18 years receiving palliative care at 13 hospitals between 1st January and 31st December 2014 was carried out. Results: There were 315 patients analysed, 90 (28.6%) and 46 (14.6%) were neonates and adolescents respectively. The main ICD-10 diagnostic categories for all patients were identified to be ‘Congenital malformations, deformations and chromosomal abnormalities’ 117 (37.1%), ‘Diseases of nervous system’ 76 (24.1%) and ‘Neoplasms’ 60 (19.0%). At referral 156 (50%) patients had holistic needs assessments. Patients with ‘Diseases of nervous system’ were assessed to have significantly more physical needs than the other two diagnostic categories. Majority of patients who knew of their diagnosis and prognosis were those with malignancy. Over a fifth of referrals were at their terminal admission. Of 144 who died, 111 (77.1%) had advanced care plans. There was bereavement follow-up in 98 (68.1%) patients. Conclusion: Patients referred for palliative care have varied diagnoses and needs. To ensure all paediatricians are competent to deliver quality care to all children, further education and training initiatives is imperative.
Palliative Care

Objective: To evaluate the long-term efficacy, retention rate and tolerability of ketogenic diet treatment (KD) for children with medically refractory epilepsies from a single tertiary centre in Malaysia. Methods: Children who were treated with ketogenic diet since 2006 and had at least 2 years follow up after initiation of the KD were evaluated retrospectively using intention-to-treat principle. Response is defined at seizure reduction of > 50%. Efficacy was assessed as percentage of patients who had seizure reduction by >50%, >90% and seizure freedom and retention rate was the proportion of patients who remained on ketogenic diet. Result: A total of thirty children were included. The median duration of treatment was 8 months (range: 7 days to 6 years). Retention rates at 3, 6, 12 and 24 months were 80%, 70%, 50% and 40% and responder rates were 70%, 63%, 47% and 37% respectively. The common adverse effects were constipation (43%), hunger (23%), excessive weight gain or loss (20%), vomiting (10%), hyperuricaemia(30%), hypocalcaemia (20%) and renal calculi (13%). The common reasons for stopping were because the diet was too restrictive (33%), infrequent seizure or seizure freedom (23%), not effective (17%) but none was due to the adverse effects. Conclusion: Ketogenic diet treatment is effective and well-tolerated by Malaysian children in general.
Ketogenic Diet ; Epilepsy