Ages and Stages Questionnaires in the assessment of young children after cardiac surgery.

Aims: This study explored the prospective use of the Ages and Stages Questionnaires-3 in follow-up after cardiac surgery.

Materials And Method: For children undergoing cardiac surgery at 5 United Kingdom centres, the Ages and Stages Questionnaires-3 were administered 6 months and 2 years later, with an outcome based on pre-defined cut-points: Red = 1 or more domain scores >2 standard deviations below the normative mean, Amber = 1 or more domain scores 1-2 standard deviations below the normal range based on the manual, Green = scores within the normal range based on the manual.

Results: From a cohort of 554 children <60 months old at surgery, 306 participated in the postoperative assessment: 117 (38.

Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.

Aim: To extend the findings of a previous clinical trial suggesting combined abacavir (ABC), lamivudine (3TC), and zidovudine (AZT) reduces type I interferon (IFN) signalling in Aicardi-Goutières syndrome (AGS).

Method: This was an open label, non-placebo-controlled phase II clinical trial (NCT04731103) in patients less than 16 years with any of five AGS genotypes. The effect of ABC or 3TC individually, or of combined ABC + 3TC + AZT, on IFN-stimulated gene (ISG) expression (primary outcome) and IFN-alpha protein (secondary outcome) in blood was assessed.

Protocol for a feasibility and acceptability study for UK general population paediatric type 1 diabetes screening-the EarLy Surveillance for Autoimmune diabetes (ELSA) study.

Aim: The EarLy Surveillance for Autoimmune (ELSA) study aims to explore the feasibility and acceptability of UK paediatric general population screening for type 1 diabetes.

Methods: We aim to screen 20,000 children aged 3-13 years for islet-specific autoantibodies through dried blood spot sample collection at home, hospital or community settings. Children with two or more autoantibodies are offered metabolic staging via oral glucose challenge testing.

The Influence of Sidedness in Unilateral Cleft Lip and Palate on Mid Facial Growth at Five Years of Age.

Objective: To determine whether facial growth at five years is different for children with a left versus right sided cleft lip and palate.

Design: Retrospective cohort study.

Setting: Seven UK regional cleft centres.

Sidedness in Unilateral Orofacial Clefts: A Systematic Scoping Review.

Objective: An overview of the literature relating to the sidedness of unilateral cleft lip with or without cleft palate to map current knowledge on the cause and impact of directional asymmetry.

Design: Scoping review with a systematic search of Medline and Embase from inception to May 2023.

Patients, Participants: Humans born with a left or right unilateral cleft lip with or without a cleft palate.

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Purpose: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence for causality of the variants.

Methods: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals.

Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?

Objective: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) can be monophasic or relapsing, with early relapse being a feature. However, the relevance of early relapse on longer-term relapse risk is unknown. Here, we investigate whether early relapses increase longer-term relapse risk in patients with MOGAD.

Management of difficult-to-treat asthma in adolescence and young adults.

The period of adolescence and young adulthood (AYA) has been proposed to extend from 11 to 25 years of age as patients in this age group face similar challenges. AYA is a time of fast and great physiological and psychological growth, in which an individual transitions from a young dependent child to a mature independent adult. Behaviour patterns during adolescence, such as risk taking and desire for privacy, can challenge parents or healthcare professionals' (HCPs') ability to help adolescents to manage their asthma.

Efficacy and Safety of Teduglutide in Infants and Children With Short Bowel Syndrome Dependent on Parenteral Support.

Objectives: Our objective was to evaluate the short- and long-term safety and efficacy of teduglutide treatment in infants and children with short bowel syndrome with intestinal failure (SBS-IF).

Methods: Two open-label phase 3 studies and 1 extension study investigated the short- and long-term safety and efficacy of teduglutide (0.05 mg/kg/day) in infants and children with SBS-IF: NCT03571516, 24-week study of infants who were randomized to receive teduglutide or standard of care (SoC); NCT02980666, 24-week study of infants and children who all received teduglutide; and NCT03268811, 24-week extension study of patients who completed NCT02980666 (patients could receive up to 48 weeks of total treatment).

Early MRI for Pediatric Wrist Injuries-Prospective Case Series of 150 Cases.

 Pediatric carpal injuries are a clinical challenge due to their non-specific clinical features and occult nature on plain radiography. We hypothesized that early magnetic resonance imaging (MRI) will allow prompt diagnosis and treatment stratification, and that distal pole fracture of the scaphoid requires a shorter duration of immobilization. This study aims to assess the injury pattern and clinical outcomes of under-16-year-olds treated with acute post-traumatic wrist injuries in accordance with the unit's protocol.

The Typology and Topography of Child Abuse and Neglect: The Experience of a Tertiary Children's Centre.

Effective child protection systems and processes require reliable and accurate data. The aim of this study was to determine what data could be extracted from hospital records in a single site that reflected a child's journey from admission with suspected abuse to the decisions regarding substantiation made by the multidisciplinary child protection team. A retrospective study of the case records of 452 children referred to a major UK children's tertiary centre for suspected child maltreatment was undertaken.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense.

Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver.

Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic, neurological, psychiatric, ophthalmological, haematological, renal, and rheumatological manifestations. Making a diagnosis can be challenging given that no single test can confirm or exclude the disease, and diagnostic delays are common. Treatment protocols vary and adverse effects, including paradoxical neurological worsening, can occur.

Cross-sectional diagnostic accuracy study of self-testing for proteinuria during hypertensive pregnancies: The UDIP study.

Objective: To determine the accuracy of self-testing for proteinuria during pregnancy.

Design: Diagnostic accuracy study.

Setting: Antenatal clinics, maternity assessment units and inpatient wards at three hospital sites.

Current international trends in the treatment of multiple sclerosis in children-Impact of the COVID-19 pandemic.

Background: Only recently has the first disease-modifying therapy been approved for children with multiple sclerosis (MS) and practice patterns including substantial off-label use have evolved. Understanding attitudes towards treatment of paediatric MS and whether this has changed due to the ongoing COVID-19 pandemic is vital to guide future therapeutic trials and for developing guidelines that reflect practice.

Methods: We performed an online survey within the International Paediatric Multiple Sclerosis Study Group between July and September 2020.

Epidemiology of Cardiopulmonary Resuscitation in Critically Ill Children Admitted to Pediatric Intensive Care Units Across England: A Multicenter Retrospective Cohort Study.

Background Cardiopulmonary arrests are a major contributor to mortality and morbidity in pediatric intensive care units (PICUs). Understanding the epidemiology and risk factors for CPR may inform national quality improvement initiatives. Methods and Results A retrospective cohort analysis using prospectively collected data from the Paediatric Intensive Care Audit Network database.

Inositol treatment inhibits medulloblastoma through suppression of epigenetic-driven metabolic adaptation.

Deregulation of chromatin modifiers plays an essential role in the pathogenesis of medulloblastoma, the most common paediatric malignant brain tumour. Here, we identify a BMI1-dependent sensitivity to deregulation of inositol metabolism in a proportion of medulloblastoma. We demonstrate mTOR pathway activation and metabolic adaptation specifically in medulloblastoma of the molecular subgroup G4 characterised by a BMI1;CHD7 signature and show this can be counteracted by IP6 treatment.

Scaphoid Fractures below the Age of 10: Case Series and Review of the Literature.

 Scaphoid fractures are relatively uncommon in children, especially below the age of 10 due to the ossification of the scaphoid bone, which starts around 4 to 6 years of age and continues until 13 to 15 years of age, where pediatric scaphoid fractures peak. This makes the diagnoses challenging in this age group.  The primary aim of this study was to analyze prospectively collected data in managing scaphoid fractures.

E.U. paediatric MOG consortium consensus: Part 4 - Outcome of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.

There is increasing knowledge on the role of antibodies against myelin oligodendrocyte glycoprotein (MOG-abs) in acquired demyelinating syndromes and autoimmune encephalitis in children. Better understanding and prediction of outcome is essential to guide treatment protocol decisions. Therefore, this part of the Paediatric European Collaborative Consensus provides an oversight of existing knowledge of clinical outcome assessment in paediatric MOG-ab-associated disorders (MOGAD).

Treatment and outcome of aquaporin-4 antibody-positive NMOSD: A multinational pediatric study.

Objective: To describe the clinical phenotypes, treatment response, and outcome of children with antibodies against aquaporin-4 (AQP4-Ab) neuromyelitis optica spectrum disorder (NMOSD).

Methods: Retrospective, multicenter, and multinational study of patients with AQP4-Ab NMOSD aged <18 years at disease onset from a center in Brazil and 13 European centers. Data on demographics, clinical findings, and laboratory results were analyzed; calculation of annualized relapse rates (ARRs) pre- and on-treatment with disease-modifying therapies (DMTs) and of ORs for predictors of poor outcome was performed.