METHODS: We analysed 24 children under 12 years old, all of whom met the criteria provided by the World Health Organization, 2020 for MIS-C diagnosis, from the Paediatric COVID-19 Registry in Kuwait (PCR-Q8). Demographic and clinical data were collected from medical records, and exome sequencing was performed on the children and their parents to identify rare exonic variants. These variants were prioritized using two approaches: a candidate genes approach employing trio segregation analysis, and a candidate variants approach using a gene panel informed by previous studies on MIS-C-related genetic variants and datasets of differentially expressed genes in MIS-C patients.
RESULTS: The candidate genes approach identified 53 unique genes in 20 of the 24 probands, including DDX60 and TMEM154, which were also differentially expressed between MIS-C and control groups. The candidate variants approach identified 33 rare, predicted deleterious heterozygous variants across 19 unique genes in 19 of the 24 probands, including both previously described and novel candidate variants for MIS-C. Pathway analysis of the identified genes from both approaches revealed significant involvement in immune response, viral defence, and inflammatory pathways.
CONCLUSION: This study underscores the monogenic susceptibility to MIS-C, enhancing the evidence base through comprehensive genetic analysis. The findings highlight the critical role of genetic predispositions in MIS-C and suggest that further functional genomics work is necessary to explore the mechanistic contributions of these genes, facilitating the development of targeted diagnostic strategies.
METHODS: Data from 939 preschoolers aged 3-6 years (mean age = 4.83 ± 0.04 years, 53.7% boys) from the Second South East Asian Nutrition Surveys (SEANUTS II) Malaysia study was analyzed. Socio-demography, physical activity, sedentary behaviors, and sleep were parent-reported via questionnaire. Associations between adherence of 24-hMG and sociodemographic factors were analyzed using complex samples logistic regression.
RESULTS: Only 12.1% of preschoolers adhered to the overall 24-hMG, and 67.1%, 54.7%, and 42.7% of preschoolers adhered to physical activity, sleep, and sedentary behavior guidelines, respectively; while 6.8% did not meet any guidelines. Compared to 3-4-year olds, preschoolers aged 5-6 years had higher odds of adhering to physical activity guidelines, sedentary behavior guidelines, and overall 24-hMG, but lower odds of adhering to sleep guidelines. Chinese and Indian preschoolers were more likely to adhere to sedentary behavior guidelines than Malay preschoolers; however, Chinese preschoolers had lower odds of adhering to physical activity guidelines. Paternal tertiary education was associated with a higher likelihood of adherence to sleep guidelines.
CONCLUSION: Our findings suggest that adherence to 24-hMG among Malaysian preschoolers is associated with age, ethnicity, and paternal education level. This underscores the importance of targeted interventions and health awareness program to promote healthy movement behaviors, particularly among children under 5, ethnic minorities, and educationally disadvantaged families.
MATERIALS AND METHODS: A scoping review was conducted across four databases (PubMed, ScienceDirect, Scopus and Google Scholar). The included articles were written in English, published between January 2010 and June 2023, and specific to predefined keywords. Two independent reviewers screened and selected the final papers using the PRISMScR checklist. A code framework was created to extract information about the publications and conducted by one reviewer. The results were reported using descriptive statistics and narrative synthesis.
RESULTS: The final analysis were conducted on 22 articles out of 452 articles screened. The review identified seven outcome measures presented in various languages. The outcome measures found were the Auditory Behaviour in Everyday Life (ABEL), Functional Listening Index for Paediatric (FLI-P), Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS), Integrated Scales of Development (ISD), LittlEARS Auditory Questionnaire (LEAQ), Parent's Evaluation of Aural/Oral Performance in Children (PEACH), Parent's Evaluation of Aural/Oral Performance in Children Diary (PEACH Diary), Teachers' Evaluation of Aural/Oral Performance in Children (TEACH) and Parent's Evaluation of Aural/Oral Performance in Children Plus (PEACH+). A total of 13 studies focused on translating, adapting and validating an outcome measure while the remaining investigations validated either the translated or original version of the outcome measures. All original instruments were developed in English and among Western culture, except for the LEAQ which was designed in the German language and for the German population. The outcome measures identified were translated and adapted into Spanish, Turkish, Persian, Hebrew, Arabic, Malay, Yoruba, Polish, Swedish, Hindi, Portuguese, Kannada and Mandarin.
CONCLUSION: All studies performed an extensive evaluation of psychometric properties and feasibility studies to produce an excellent quality of auditory-related behaviour outcome measure for clinical use with the intended population. A new outcome measure, FLI-P, was found to be clinically useful for the primary provider of learning to listen and spoken language training for children with hearing impairment in Malaysia, i.e., the speech-language therapists.