2023 clinical practice guidelines on autism spectrum disorder in children and adolescents in Singapore.

Introduction: Autism is a neurodevelopmental condition that is increasing in prevalence worldwide. There has been an exponential increase in autism-related research since 2010, when the first Singapore Clinical Practice Guidelines (CPG) on autism was published. Understanding of autism has since evolved to adopt a lifespan approach beyond that of a childhood condition. The aim of this CPG was to provide an updated set of recommendations for children and adolescents to aid clinical practice for professionals. Method: A multidisciplinary workgroup that comprised representatives from various sectors worked on this CPG. Clinical questions were organised into 10 different sections, each with its own subgroup of members. Seventeen existing international guidelines were evaluated using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE-II) framework, of which 4 met criteria to act as references. Literature review across multiple databases was conducted between January 2011 to 2023; Grading of Recommendations, Assessment, Development and Evaluation (GRADE-like) methodology was used to synthesise evidence. Recommendation statements were derived, following Delphi-style consensus surveys among the workgroup. The draft guidelines underwent external review and public consultation before being formalised. Results: Recommendation and good practice statements pertaining to care of children and adolescents on the autism spectrum across 10 different sections were developed. Evidence matrices complement these recommendations and detail relevant evidence behind each recommendation statement. Conclusion: It is intended for these guidelines to promote effective management and healthcare services for children and adolescents on the autism spectrum, by reinforcing good and evidence-based clinical practice within our national context.

2023 clinical practice guidelines on autism spectrum disorder in children and adolescents in Singapore

Autism is a neurodevelopmental condition that is increasing in prevalence worldwide. There has been an exponential increase in autism-related research since 2010, when the first Singapore Clinical Practice Guidelines (CPG) on autism was published. Understanding of autism has since evolved to adopt a lifespan approach beyond that of a childhood condition. The aim of this CPG was to provide an updated set of recommendations for children and adolescents to aid clinical practice for professionals. A multidisciplinary workgroup that comprised representatives from various sectors worked on this CPG. Clinical questions were organised into 10 different sections, each with its own subgroup of members. Seventeen existing international guidelines were evaluated using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE-II) framework, of which 4 met criteria to act as references. Literature review across multiple databases was conducted between January 2011 to 2023; Grading of Recommendations, Assessment, Development and Evaluation (GRADE-like) methodology was used to synthesise evidence. Recommendation statements were derived, following Delphi-style consensus surveys among the workgroup. The draft guidelines underwent external review and public consultation before being formalised. Recommendation and good practice statements pertaining to care of children and adolescents on the autism spectrum across 10 different sections were developed. Evidence matrices complement these recommendations and detail relevant evidence behind each recommendation statement. It is intended for these guidelines to promote effective management and healthcare services for children and adolescents on the autism spectrum, by reinforcing good and evidence-based clinical practice within our national context.

Non-immune hydrops fetalis secondary to congenital chylothorax with diffuse interstitial lung disease: a diagnostic conundrum.

A Chinese male infant was born at 35 weeks weighing 2935 g to a mother with polyhydramnios and prenatal hydrops fetalis. He developed marked respiratory distress secondary to bilateral congenital chylothorax and required pleural drainage, high frequency oscillation and inhaled nitric oxide therapy. He was extubated to non-invasive ventilation by day 14. There was no bacterial or intrauterine infection, haematologic, chromosomal or cardiac disorder. He was exclusively fed medium-chain triglyceride formula. High-resolution CT showed diffuse interstitial lung disease. He received a dexamethasone course for chronic lung disease to facilitate supplemental oxygen weaning. A multidisciplinary team comprising neonatology, pulmonology, haematology, interventional radiology and thoracic surgery considered congenital pulmonary lymphangiectasia as the most likely diagnosis and advised open lung biopsy, lymphangiography or scintigraphy for diagnostic confirmation should symptoms of chylothorax recur. Fortunately, he was weaned off oxygen at 5 months of life, and tolerated human milk challenge at 6 months of life and grew well.

Screening for congenital heart disease in a Singapore neonatal unit.

INTRODUCTION: Congenital heart disease (CHD) is a leading cause of infant mortality. The aim of this study was to evaluate the efficacy of a neonatal screening programme for CHD before the introduction of pulse oximetry. METHODS: This was a retrospective review of live births in the period 2003-2012. Cases of CHD were detected through prenatal ultrasonography and/or postnatal examination, and confirmed using two-dimensional echocardiography. Data was rigorously checked against multiple sources. The antenatal detection rate, sensitivity, specificity, predictive values and likelihood ratios of the screening programme were analysed for all cases of CHD and critical CHD. RESULTS: The incidence of CHD was 9.7 per 1,000 live births. The commonest CHD was ventricular septal defect (54.8%). The antenatal detection rate was three times higher in the critical CHD group (64.0%) compared to the group as a whole (21.1%). The sensitivity and specificity of screening was 64.5% and 99.7% for all CHD, and 92.9% and 99.1% for the critical CHD group, respectively. The positive likelihood ratio was 215 and 103, while the negative likelihood ratio was 0.36 and 0.07 for all CHD and critical CHD, respectively. CONCLUSION: The CHD screening programme had excellent specificity but limited sensitivity. The high positive likelihood ratios indicate that where sufficient risk factors for CHD are present, a positive result effectively confirms the presence of CHD. The low negative likelihood ratio for critical CHD indicates that, where prior suspicion for critical CHD is low, a negative result is reassuring.

Children with developmental and behavioural concerns in Singapore.

INTRODUCTION: Childhood developmental and behavioural disorders (CDABD) have been increasingly recognised in recent years. This study evaluated the profiles and outcomes of children referred for developmental and behavioural concerns to a tertiary child developmental centre in Singapore. This is the first such regional database. METHODS: Baseline information, obtained through a questionnaire, together with history at first consultation, provided information for referral, demographic and presentation profiles. Clinical formulations were then made. Definitive developmental and medical diagnoses, as well as outcomes based on clinical assessment and standardised testing, were recorded at one year post first consultation. RESULTS: Out of 1,304 referrals between January 1, 2003 and December 1, 2004, 45% were 2-4 years old and 74% were boys. The waiting time from referral to first consultation exceeded four months in 52% of children. Following clinical evaluation, 7% were found to be developmentally appropriate. The single most common presenting concern was speech and language (S&L) delay (29%). The most common clinical developmental diagnosis was autism spectrum disorder (ASD) (30%), followed by isolated S&L disorder, global developmental delay (GDD) and cognitive impairment (CI). Recommendations included S&L therapy (57%), occupational therapy (50%) and psychological/behavioural services (40%). At one year, ASD remained the most common definitive developmental diagnosis (31%), followed by S&L disorder, CI and GDD. Most were children with high-prevalence, low-moderate severity disorders who could potentially achieve fair-good prognosis with early intervention. CONCLUSION: Better appreciation of the profile and outcome of children with CDABD in Singapore could enable better resource planning for diagnosis and intervention.

Severe intrauterine hemolysis due to anti-C(w).

C(w) is a low-frequency antigen in the Rhesus blood group system. Anti-C(w) can occur naturally or develop as a result of red blood cell sensitization through transfusion or pregnancy. Clinically significant hemolytic disease of the newborn is rarely associated with anti-C(w), with no previous reported cases of hydrops fetalis or severe fetal anemia resulting in intrauterine death. We report an unusually severe case of intrauterine hemolysis resulting from this rare condition. The neonate presented with early-onset hyperbilirubinemia and severe anemia at birth requiring multiple exchange transfusions in the first 24 hours of life. The mother of this infant had a significantly poor obstetric history, having delivered a stillbirth with massive hepatosplenomegaly previously. This case report suggests that intrauterine hemolysis due to anti-C(w) may be life threatening to the unborn fetus.

Factors associated with hypospadias in Asian newborn babies.

AIMS: Previous studies reported an increasing temporal trend of hypospadias and a significant association with poor intrauterine growth. It remains unclear whether the association relates to birth weight, degree of prematurity or intra-uterine growth. The objective was to study the incidence of hypospadias and to examine the association with various risk factors. METHODS: A retrospective case-control study was carried out of infants admitted to a neonatal unit from January 1st, 1999 to December 31st, 2005. RESULTS: Of 6538 male live births, 27 (0.41%) infants had hypospadias. Incidence increased from 2.85 per thousand in 1999 to 6.89 per thousand in 2005. Hypospadias occurred significantly more frequently in babies born small for gestational age (SGA), in very low birth weight (VLBW) infants, those born preterm and to mothers with preeclampsia (PET). Logistic regression revealed that VLBW (OR 14.12, CI 5.48-36.39), maternal PET (OR 3.90, CI 1.50-10.14) and SGA (OR 3.23, CI 1.25-8.37) as independent risk factors. CONCLUSIONS: Hypospadias is associated with VLBW, maternal PET and poor intra-uterine growth, but not with preterm birth. A rising trend in the incidence of hypospadias was noted in our population of Asian babies, suggesting a universal phenomenon.

Smith-Magenis syndrome and cyanotic congenital heart disease: a case report.

We report a male newborn infant of Chinese descent with the Smith-Magenis (SMS) syndrome who presented with a severe cyanotic congenital heart disease. This report adds pulmonary atresia and ventricular septal defect to the spectrum of cardiac defects seen in SMS.