Construction and validation of ShaMaq developmental screening tool.

INTRODUCTION: The diagnosis of developmental delay and early intervention ameliorates long-term sequelae. There is a need for an appropriate, regionally adapted and reliable developmental screening tool to be used in low and middle-income countries with scarce resources. AIM: The aim of this research is to construct and validate a screening tool for identifying developmental delay in Pakistani children. METHOD: ShaMaq developmental screening tool (SDST) was developed consisting of five proformas to be administered at different age groups: 6-8 weeks (Group 1), 6-10 months (Group 2), 18-24 months (Group 3), 3-3.5 years (Group 4), and 4.5-5.5 years (Group 5). On an average, Groups 1-3 took 10-15 min, whereas Groups 4 and 5 took 20-25 min. We sampled children between the ages of 6 weeks to 5.5 years and tested them all within their designated age groups. Internal consistency was assessed by Cronbach's alpha. Interobserver testing was done for reliability and concurrent validity was undertaken by using the senior consultant developmental paediatrician's final diagnosis as the gold standard. RESULTS: Out of 550 healthy children, 8-19% in the five groups were found to have some form of developmental delay using SDST. Approximately 50% of the families were in the low-to-moderate income bracket, and nearly 93% lived in a joint family system. Internal consistency of items in the five groups ranged from 0.784 to 0.940, whereas both interobserver reliability and concurrent validity ranged from 0.737 to 1.0. SDST showed 94.4% sensitivity and 92.9% specificity. CONCLUSION: SDST is an effective tool for identifying delay in healthy children with good internal consistency, reliability, and validity.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals.

Health Risk Factors among Doctors, Psychologists and Nurses of Pakistan during COVID-19 Pandemic.

The present study aimed to find out differences in health risk factors of COVID-19 among doctors, nurses and psychologists by determining the relationship of cognitive appraisal, coping styles, stress and fear among health professionals. Cross-sectional research design was used. Sample comprised of 3 groups; doctors, nurses and psychologists (n = 145 in each group) working in tertiary care hospitals. Stress appraisal measure, Brief COPE inventory, Perceived stress scale and Fear contracting COVID-19 questionnaire were used to assess cognitive appraisal, coping, stress and fear respectively. Results showed that nurses had high uncontrollable, stressfulness and primary appraisal, used more avoidant emotional and problem focused coping, were more stressed and fearful as compared to doctors and psychologists. Psychologists had a high appraisal of control-self and control-others as compared to doctors and nurses and were more fearful than doctors. Doctors and psychologists used more coping of humor as compared to nurses. Moreover, primary appraisal and avoidant emotional coping positively predicted stress whereas control-self appraisal negatively predicted stress among health professionals. Uncontrollable and stressfulness appraisal positively correlated with fear. This study will direct the administrative authorities to take effective measures to improve psychological wellbeing and to deal with fear and stress of health professionals.