Changing patterns of emergency paediatric presentations during the first wave of COVID-19: learning for the second wave from a UK tertiary emergency department.

Background: The SARS-CoV-2 pandemic and initial public health response led to significant changes in health service delivery, access and utilisation. However, SARS-CoV-2 illness burden in children and young people (CYP) is low. To inform effective child public health interventions, we aimed to compare patterns of paediatric emergency department presentation during the initial pandemic response with a previous non-pandemic period. Methods: Retrospective review of attendances (0-18 years) over the initial pandemic (2 March 2020-3 May 2020) compared with 2019. Outcome measures included number of attendances, referral source, presenting complaint, discharge diagnosis and disposal. Descriptive statistics with subgroup analysis by age/sex/ethnicity and pandemic time periods (pre-lockdown, lockdown weeks 1-3 and lockdown weeks 4-6) was performed. Results: 4417 attendances (57% illness and 43% injuries) occurred, compared with 8813 (57% illness and 43% injuries), a reduction of 50%, maximal in lockdown week 2 (-73%). Ranking of top three illness presentations changed across the pandemic weeks. Breathing difficulty dropped from first (300, 25%) to second (117, 21%) to third (59, 11%) (p<0.001). Abdominal pain rose from the third pre-lockdown (87, 7%) and lockdown weeks 1-3 (37, 7%) to second in weeks 4-6 (62, 12%; p=0.004). Fever ranked second (235, 19%) in pre-lockdown and first in weeks 1-3 (134, 24%) and weeks 4-6 (94, 18%; p=0.035). Conclusions: Despite a 50% reduction, there was no significant change in acuity of illness. Rank of illness presentations changed, with abdominal pain ranking second and fever first, an important change from previous, which should prompt further research into causes. CYP-specific public health messaging and guidance for primary care are required in this second wave to ensure access to appropriate emergency services.

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

BACKGROUND: WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death. CASE PRESENTATION: Clinical and molecular characteristics of a consanguineous family show a homozygous mutation of WWOX gene at specific bases, causing a debilitating syndrome characterized by growth retardation, intractable epilepsy, intellectual disability, and early death. Using Whole Exome Sequencing (WES), a novel homozygous mutation in the WWOX gene is identified in a consanguineous Arab family from Qatar with two daughters who presented with intractable seizure and developmental delay. CONCLUSION: The study presents the importance of human WWOX gene for brain development and the association between gene mutation and epileptic encephalopathy. It also highlights the power of WES particularly in clinically challenging cases.