METHODS: Patients with unexplained pediatric-onset epilepsy were identified from the in-house Severance Neurodevelopmental Disorders and Epilepsy Database. All patients underwent either exome sequencing or multigene panels from January 2017 to December 2019, at Severance Children's Hospital in Korea. Clinical data were extracted from the medical records.
RESULTS: Of the 957 patients studied, 947 (99.0%) were Korean and 570 were male (59.6%). The median age at testing was 4.91 years (interquartile range, 1.53-9.39). The overall diagnostic yield was 32.4% (310/957). Clinical exome sequencing yielded a diagnostic rate of 36.9% (134/363), whereas the epilepsy panel yielded a diagnostic rate of 29.9% (170/569). Diagnostic yield differed across epilepsy syndromes. It was high in Dravet syndrome (87.2%, 41/47) and early infantile developmental epileptic encephalopathy (60.7%, 17/28), but low in West syndrome (21.8%, 34/156) and myoclonic-atonic epilepsy (4.8%, 1/21). The most frequently implicated genes were SCN1A (n = 49), STXBP1 (n = 15), SCN2A (n = 14), KCNQ2 (n = 13), CDKL5 (n = 11), CHD2 (n = 9), SLC2A1 (n = 9), PCDH19 (n = 8), MECP2 (n = 6), SCN8A (n = 6), and PRRT2 (n = 5). The recurrent genetic abnormalities included 15q11.2 deletion/duplication (n = 9), Xq28 duplication (n = 5), PRRT2 deletion (n = 4), MECP2 duplication (n = 3), SCN1A, c.2556+3A>T (n = 3), and 2q24.3 deletion (n = 3).
SIGNIFICANCE: Here we present the results of a large-scale study conducted in East Asia, where we identified several common genes and recurrent variants that varied depending on specific epilepsy syndromes. The overall genetic landscape of the Asian population aligns with findings from other populations of varying ethnicities.
METHODS: The International Society of Global Health (ISoGH) used the Child Health and Nutrition Research Initiative (CHNRI) method to identify research priorities for future pandemic preparedness. Eighty experts in global health, translational and clinical research identified 163 research ideas, of which 42 experts then scored based on five pre-defined criteria. We calculated intermediate criterion-specific scores and overall research priority scores from the mean of individual scores for each research idea. We used a bootstrap (n = 1000) to compute the 95% confidence intervals.
RESULTS: Key priorities included strengthening health systems, rapid vaccine and treatment production, improving international cooperation, and enhancing surveillance efficiency. Other priorities included learning from the coronavirus disease 2019 (COVID-19) pandemic, managing supply chains, identifying planning gaps, and promoting equitable interventions. We compared this CHNRI-based outcome with the 14 research priorities generated and ranked by ChatGPT, encountering both striking similarities and clear differences.
CONCLUSIONS: Priority setting processes based on human crowdsourcing - such as the CHNRI method - and the output provided by ChatGPT are both valuable, as they complement and strengthen each other. The priorities identified by ChatGPT were more grounded in theory, while those identified by CHNRI were guided by recent practical experiences. Addressing these priorities, along with improvements in health planning, equitable community-based interventions, and the capacity of primary health care, is vital for better pandemic preparedness and response in many settings.
Methods: In-depth interviews were conducted with 17 women, ages 21-56 who were either divorced or currently in the process of getting divorced in Kelantan, Malaysia.
Results: Several themes emerged, indicating the following five reasons for divorce: 1) reaching the point of ultimatum, 2) having adequate support pre- and post-divorce, 3) concern for children's welfare, 4) seeking financial independence, and 5) fear of harm.
Conclusion: The identification of the driving factors for divorce may spark a change in our society's mindset to empower female divorcees and allow them to lead happy, abuse-free lives.
DESIGNS AND METHODS: A descriptive qualitative study was conducted. A purposive sample of 11 parents who went through their first waiting experiences during their children's surgeries in a Singapore public hospital was recruited. Children younger than or equal to 16 years of age were included. A semi-structured interview guide facilitated the individual face-to-face interviews. Thematic analysis was used.
RESULTS: Four themes were identified: "Care and care provision affecting waiting experiences", "Parental concerns and surgery affecting waiting experiences", "Coping strategies used during waiting periods" and "Recommendations to improve waiting experiences". Pre-operative instructions, the professionalism of medical teams, and a lack of timely updates affected parental experiences. Parents expressed their worries. The complexities and types of surgery influenced how they felt. Their concerns included potential complications, surgical outcomes, anesthesia-related side effects, and post-operative care including pain. They spent their waiting times eating, resting, using their smart devices, and coping with a support system. Environmental improvements, more updates, and mobile applications were recommended by the participants.
CONCLUSION: For a parent, the wait during his/her child's surgery can be unsettling. Our results give insights into parental waiting experiences and needs during their children's surgeries.
PRACTICE IMPLICATIONS: These findings can guide the improvement of the current practise based on our evidence or the implementation of newer technology to provide better waiting experiences for parents during their children's surgeries and to enhance the quality of clients' experiences in the hospital.
ELIGIBILITY CRITERIA: Articles were limited to the English language, those reported on stigma experienced by parents of children with ASD aged 2-18 years, published between 1940 and 2019.
SAMPLE: PubMed, CINAHL, PsycINFO, EMBASE, Scopus and The Cochrane Library databases were searched for eligible studies. Titles and abstracts were reviewed, and twelve articles fitted the selection criteria. The texts of the selected research papers were reviewed by two independent reviewers.
RESULTS: Four common themes across parental experiences included felt stigma, enacted stigma, variations in stigma, and contributors to stigmatizing experiences.
CONCLUSIONS: Highlighting the differences in parents' views on affiliate stigma is necessary to create awareness about ASD and the stigma linked with this disorder.
IMPLICATIONS: The findings asserted that healthcare professionals, especially those in pediatric settings, and society need to have a greater awareness of the stigma and challenges that these parents encounter as this has implications on their mental and physical health. This awareness will lead to more compassionate health care delivery which will support them and create a better environment for families and children with ASD.