Background: Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5′ untranslated region of the FMR1 gene. Southern blot analysis is the most commonly used method for molecular diagnosis of FXS. We describe a simplified strategy based on fluorescent methylation-specific PCR (ms-PCR) and GeneScan™ analysis for molecular diagnosis of fragile X syndrome.

This study explored the potential roles and utility of the Parents Evaluation of Developmental Status (PEDS) to screen children for developmental delays in a Southeast Asian clinical sample of preschool children. The PEDS is a 10-item questionnaire instrument used in pediatric settings for reporting parents' concerns for their children's development, learning, and behavior. Clinicians use it to make decisions about clinical pathways for high-, moderate-, and low-risk categories of concerns, but its utility in cross-cultural contexts has not been well documented. Participants in this study were 1806 parents, teachers, and child care workers of preschool children in Singapore. Of these, 47.2% were English speaking, 21.2% were Mandarin Chinese speaking, and 31.6% were Malay speaking. PEDS was translated into Chinese and Malay for parents using these languages predominantly. Only parent results were analyzed. The reporting of significant parental concern was considerably higher than US norms and Australian pilot figures when western cutoff scores were applied. When cutoff scores were adjusted, similar patterns of reporting of high, medium, and low risk for disability could be captured. Parents' interpretation of the concept of "concern" varies across language and culture. Findings highlight the importance of evaluating a screening tool's use in local contexts before its widespread implementation to yield clinically meaningful results.

Introduction: Sleep problems are common in all ages, but may be particularly acute in urban Singapore. This study aims to describe the sleep behaviour of, and to identify any sleep problems in, preschool children. Materials and Methods: This was a cross-sectional questionnaire survey of 372 children attending local childcare centers. The questionnaire was based on the Children’s Sleep Habits Questionnaire (CSHQ), a validated parent-report sleep screening questionnaire that contains 54 items identifying sleep behaviours in children. Results: A total of 372 (40.0%) children participated. The mean age was 4.1 (SD 1.3) years (range, 2 to 6 years). Average total sleep duration was 10.8 hours (SD 1.1) with average night-time sleep duration of 8.5 hours (SD 0.6) and average nap duration of 1.6 hours (SD 1.0). Co-sleeping was common; 80.9% of children shared a room with someone else. The most common sleep problems were in the domains of sleep resistance and morning behaviour; namely: requiring company to fall asleep (n = 272, 73.1%), being afraid to sleep alone (n = 228, 61.6%) and difficulty in waking up (n = 165, 44.4%). Among parents, 84.1 % (n = 313) perceived that their child’s sleep duration was adequate. Conclusion: The duration of sleep in the Singaporean preschool population sampled is significantly lower than recommended values and that of previously described Caucasian populations. Parental perception of sleep adequacy deviates from current recommendations. Given the clear relation of sleep duration with cognitive functioning, learning, and physical growth, this sleep deprivation should be addressed with parental education and opportunistic screening of sleep in well-child follow-ups. Key words: Co-sleeping, Sleep duration, Sleep resistance

As the coronavirus 2019 pandemic continues, healthcare services need to adapt to continue providing optimal and safe services for patients. We detail our adaptive framework as a large Developmental and Behavioral Pediatrics service in a tertiary academic institution in Singapore. The multidisciplinary team at our unit implemented various adaptations and workflow processes during this evolving pandemic in providing continued clinical care tailored to the challenges specific to our patient population. Services were continued via teleconsultation mode during the ‘Circuit Breaker’ (enhanced movement restriction) period. Specific workflow processes, IT infrastructure, and staff training were put in place to support smooth running of this service. Segregation of services into two teams based at two separate sites and implementation of stringent infection control measures surrounding the clinic visit by providers, patients and their families were incorporated to ensure safety. Measures were also taken to ensure providers' mental wellbeing. The clinical service was continued for the majority of our patients with a lowest reduction in patient consultations to half of baseline during the ‘Circuit Breaker’ period. We received positive feedback from families for teleconsultation services provided. We have been able to continue services in our DBP clinics due to our dynamic reassessment of workflow processes and their prompt implementation in conjunction with the hospital and national public health response to the pandemic. Given that this pandemic is likely to be long drawn, our unit remains ready to constantly adjust these workflows and make adaptations as we go along, together with the support for mental health of patients, parents and staff. Continual improvements in workflows will be helpful even beyond the pandemic to ensure good continuity of care for our patients and families.