The PEDS is acceptable to parents of Australian preschool children, with a prevalence of significant concerns (i.e. children at high- and medium-risk of developmental problems) that is similar to those in the USA. Further research is needed to assess what factors differentially influence whether a concern is felt in a particular domain for a particular child.
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. Methods: We used sodium bisulfite treatment to selectively modify genomic DNA from fragile X and normal lymphoblastoid cell lines and from patients. We then performed ms-PCR amplification using fluorescentlylabeled primers complementary to modified methylated or unmethylated DNA. Amplification products were resolved by capillary electrophoresis. FMR1 mutational status was determined by a combination of fluorescent peak sizes and patterns on the GeneScan electropherogram. Results: DNA samples from male and female persons with known NL, PM, and FM FMR1 CGG repeats were analyzed. Each FMR1 genotype produced a unique GeneScan electropherogram pattern, thus providing a way to identify the various disease states. The number
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.
INTRODUCTIONThis study aimed to describe the demographic, social, developmental and behavioural profile of children hospitalised for alleged child maltreatment syndrome (CMS).
METHODSThis study was a retrospective review of the consecutive inpatient records of children (0-16 years) admitted to the National University Hospital, Singapore, for alleged CMS over a three-year period. Descriptive data on the demographic characteristics, alleged maltreatment, medical and developmental histories, and family background of these children were collected and analysed. Chi-square statistics were used to test whether family factors were associated with the type of maltreatment and the presence of developmental disorders.RESULTS A total of 89 children, who accounted for 90 admission cases, were studied. Physical abuse (70.0%) was the most common, followed by neglect (11.1%) and sexual abuse (7.8%). Child protection services had already been involved in 29.2% of the cases prior to the child's admission. Children who were victims of abuse were more likely to come from homes with a prior history of domestic violence (p = 0.028). Financial difficulty was found to be a risk factor for neglect (p = 0.005). Among the 89 children, 15.7% were found to have developmental disorders and 10.1% had mental health diagnoses. Children who had developmental disorders were more likely to have a parent with a mental health disorder (p = 0.002).CONCLUSION A sizeable proportion of the children admitted for alleged CMS had developmental or behavioural disorders.Clinicians have a role in ensuring that these children have appropriate follow-up plans. Children from high-risk families should be screened for maltreatment.
Background: 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. Methods: 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. Results: 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. Conclusion: 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
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