Common mental health disorders and cognitive decline in a longitudinal Down syndrome cohort.

Background: Down syndrome is the most common genetic cause of intellectual disability and Alzheimer's disease. In the general population, common mental disorders (CMDs), including anxiety, depression and obsessive-compulsive disorder, are linked to cognitive decline and higher risk for dementia. It is not known how CMDs affect longer-term cognitive outcomes in Down syndrome, and there is often diagnostic uncertainty in older people with Down syndrome and psychiatric comorbidity.

Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records.

Background: The Down syndrome phenotype is well established, but our understanding of its morbidity patterns is limited. We comprehensively estimated the risk of multiple morbidity across the lifespan in people with Down syndrome compared with the general population and controls with other forms of intellectual disability.

Methods: In this matched population-based cohort-study design, we used electronic health-record data from the UK Clinical Practice Research Datalink (CRPD) from Jan 1, 1990, to June 29, 2020.

Exploring semantic verbal fluency patterns and their relationship to age and Alzheimer's disease in adults with Down syndrome.

Introduction: Adults with Down syndrome (DS) are at ultra-high risk of developing Alzheimer's disease (AD), characterized by poor episodic memory and semantic fluency in the preclinical phase in the general population. We explored semantic fluency performance in DS and its relationship to age, AD, and blood biomarkers.

Methods: A total of 302 adults with DS at baseline and 87 at follow-up from the London Down Syndrome Consortium cohort completed neuropsychological assessments.

Diabetes and Obesity in Down Syndrome Across the Lifespan: A Retrospective Cohort Study Using U.K. Electronic Health Records.

Objective: Down syndrome (DS) is the most common form of chromosomal trisomy. Genetic factors in DS may increase the risk for diabetes. This study aimed to determine whether DS is associated with an increased incidence of diabetes and the relationship with obesity across the life span compared with control patients.

Complement dysregulation and Alzheimer's disease in Down syndrome.

Introduction: Down syndrome (DS) is associated with immune dysregulation and a high risk of early onset Alzheimer's disease (AD). Complement is a key part of innate immunity and driver of pathological inflammation, including neuroinflammation in AD. Complement dysregulation has been reported in DS; however, the pattern of dysregulation and its relationship to AD risk is unclear.

Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK.

Background: During the COVID-19 pandemic, people with Down syndrome (DS) have experienced a more severe disease course and higher mortality rates than the general population. It is not yet known whether people with DS are more susceptible to being diagnosed with COVID-19.

Objective: To explore whether DS is associated with increased susceptibility to COVID-19.

Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK.

Objectives: This study explores the hospital journey of patients with intellectual disabilities (IDs) compared with the general population after admission for COVID-19 during the first wave of the pandemic (when demand on inpatient resources was high) to identify disparities in treatment and outcomes.

Design: Matched cohort study; an ID cohort of 506 patients were matched based on age, sex and ethnicity with a control group using a 1:3 ratio to compare outcomes from the International Severe Acute Respiratory and emerging Infections Consortium WHO Clinical Characterisation Protocol UK.

Setting: Admissions for COVID-19 from UK hospitals; data on symptoms, severity, access to interventions, complications, mortality and length of stay were extracted.

Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study.

Background: Adults with Down syndrome are at an ultra-high risk of Alzheimer's disease, but diagnosis of Alzheimer's disease in this population is challenging. We aimed to validate the clinical utility of plasma neurofilament light chain (NfL) for the diagnosis of symptomatic Alzheimer's disease in Down syndrome, assess its prognostic value, and establish longitudinal changes in adults with Down syndrome.

Methods: We did a multicentre cohort study, including adults with Down syndrome (≥18 years), recruited from six hospitals and university medical centres in France, Germany, Spain, the UK, and the USA, who had been assessed, followed up, and provided at least two plasma samples.

The reliability and validity of DSM 5 diagnostic criteria for neurocognitive disorder and relationship with plasma neurofilament light in a down syndrome population.

The validity of dementia diagnostic criteria depends on their ability to distinguish dementia symptoms from pre-existing cognitive impairments. The study aimed to assess inter-rater reliability and concurrent validity of DSM-5 criteria for neurocognitive disorder in Down syndrome. The utility of mild neurocognitive disorder as a distinct diagnostic category, and the association between clinical symptoms and neurodegenerative changes represented by the plasma biomarker neurofilament light were also examined.

The Association between Physical Activity and CAMDEX-DS Changes Prior to the Onset of Alzheimer's Disease in Down Syndrome.

Background: People with Down syndrome are at ultra-high risk of developing Alzheimer's dementia. At present, there are no preventative or curative treatments. Evidence from sporadic Alzheimer's disease literature suggests that lifestyle factors including physical activity may help maintain cognitive and functional skills and reduce dementia risk.

Down syndrome.

Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, involving trisomy of all or part of human chromosome 21 or orthologous mouse genomic regions, are providing valuable insights into the contribution of triplicated genes or groups of genes to the many clinical manifestations in DS.

Burns in children caused by hair straighteners: epidemiology and investigation of heating/cooling curves.

We recently encountered a number of burns in young children caused by hair straighteners and decided to study their epidemiology. We carried out a retrospective audit from 1999 to 2006. We also conducted laboratory testing of the thermal profiles of four brands of hair straighteners.

The impact of recent legislation on paediatric fireworks injuries in the Newcastle upon Tyne region.

Despite the changes to the UK fireworks laws and considerable efforts in prevention, children are still being injured by fireworks. The UK is one of many countries that have altered their firework laws in recent years. We reviewed 54 firework-injured children over the last 10 years and assessed the impact of the two recent UK law changes.

Evidence for the link between healing time and the development of hypertrophic scars (HTS) in paediatric burns due to scald injury.

The relationship between burn depth, healing time and the development of hypertrophic scarring (HTS) is well recognised by burn surgeons but is seldom mentioned in the published literature. We studied 337 children with scalds whose scars were monitored for up to 5 years. Overall HTS rates were found to be: under 10 days to healing=0%, 10-14 days=8%, 15-21 days=20%, 22-25 days=40%, 26-30 days=68% and over 30 days=92%.

Dermal preservation using the Versajet hydrosurgery system for debridement of paediatric burns.

Loss of dermis is one of the principal factors that contributes to poor scar outcome after severe burn. Dermal loss may be due to the primary injury, surgical management or as a result of infection. Strategies for dermal preservation are therefore important to improve scar quality.