Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.

Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population. Additionally, male individuals with DS often show infertility, while women tend to experience menopause at an overall younger age than healthy controls. Given the recent outstanding improvements in the care of severe DS-related comorbidities, infant mortality has dramatically decreased, with a current average life expectancy exceeding 60 years. Accordingly, the awareness of the specificities of DS in this field is pivotal to timely detect endocrine dysfunctions and to undertake a prompt dedicated treatment. Notably, best practices for the screening and monitoring of pediatric endocrine disorders in DS are still controversial. In addition, specific guidelines for the management of metabolic issues along the challenging period of transitioning from pediatric to adult health care are lacking. By performing a review of published literature, we highlighted the issues specifically involving children and adolescent with DS, aiming at providing clinicians with a detailed up-to-date overview of the endocrine, metabolic and auxological disorders in this selected population, with an additional focus on the management of patients in the critical phase of the transitioning from childhood to adult care.

Analysis of Down syndrome newborn outcomes in three neonatal intensive care units in Rio de Janeiro, Brazil.

OBJECTIVE: The aim of this study was to analyze the outcomes of newborns with Down syndrome admitted to three neonatal intensive care units in the city of Rio de Janeiro, Brazil. METHODS: A retrospective cohort study was conducted by analyzing the medical records between 2014 and 2018 of newborns with Down syndrome admitted to three neonatal intensive care units. The following variables were analyzed: maternal and perinatal data, neonatal malformations, neonatal intensive care unit intercurrences, and outcomes. RESULTS: A total of 119 newborns with Down syndrome were recruited, and 112 were selected for analysis. The most common maternal age group was >35 years (72.07%), the most common type of delivery was cesarean section (83.93%), and the majority of cases were male (53.57%). The most common reasons for neonatal intensive care unit hospitalization were congenital heart disease (57.66%) and prematurity (23.21%). The most common form of feeding was a combination of human milk and formula (83.93%). The second most common malformation was duodenal atresia (9.82%). The most common complications during neonatal intensive care unit hospitalization were transient tachypnea of the newborn (63.39%), hypoglycemia (18.75%), pulmonary hypertension (7.14%), and sepsis (7.14%). The mean length of stay in the neonatal intensive care unit was 27 days. The most common outcome was discharge (82.14%). Furthermore, 12.50% of newborns were transferred to an external neonatal intensive care unit, and 6% died. CONCLUSION: Newborns with Down syndrome are more likely to be admitted to the neonatal intensive care unit, and the length of hospital stay is longer due to complications related to congenital malformations common to this syndrome and prematurity.

Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.

BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. RESULTS: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. CONCLUSIONS: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.

Age of Alzheimer's disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium.

INTRODUCTION: People with Down syndrome (DS) have high risk of developing Alzheimer's disease (AD). This study examined mean ages of AD diagnosis and associations with co-occurring conditions among adults with DS from five European countries. METHODS: Data from 1335 people with DS from the Horizon 21 European DS Consortium were used for the analysis. RESULTS: Mean ages of AD diagnosis ranged between 51.4 (SD 7.0) years (United Kingdom) and 55.6 (SD 6.8) years (France). Sleep-related and mental health problems were associated with earlier age of AD diagnosis. The higher number of co-occurring conditions the more likely the person with DS is diagnosed with AD at an earlier age. DISCUSSION: Mean age of AD diagnosis in DS was relatively consistent across countries. However, co-occurring conditions varied and impacted on age of diagnosis, suggesting that improvements can be made in diagnosing and managing these conditions to delay onset of AD in DS. HIGHLIGHTS: Mean age of AD diagnosis was relatively consistent between countries Sleep problems and mental health problems were associated with earlier age of AD diagnosis APOE ε4 carriers were diagnosed with AD at an earlier age compared to non-carriers Number of co-occurring conditions was associated with earlier age of AD diagnosis No differences between level of intellectual disability and mean age of AD diagnosis.

Results of inaugural international Down Syndrome Societal Services and Supports survey.

PURPOSE: We previously designed the Down Syndrome Societal Services and Supports Survey (DS-4S) to measure country-specific supports for people with Down syndrome (DS) across multiple life domains (healthcare, education, policy, independence, and community inclusion). We now report and analyze the results. METHODS: We partnered with international DS consortia, who distributed the DS-4S to 154 cumulative members representing over 100 countries. Organizations were included if they had a holistic focus on the lives of people with DS and if at least 50% of their members either have DS or are family members of people with DS. Factor analysis was used to analyze the results. RESULTS: We received survey responses from 55 different organizations in 50 countries who met inclusion criteria. Each country had complete data for at least 4 of the 5 domains. The lowest 5 scores were from countries in Africa and Asia; the highest 5 scores were in Europe and North America. CONCLUSION: The responses to the DS-4S stratified countries within each surveyed domain. The DS-4S can now be used to track countries' progress over time and to determine which countries have best practices that might be replicated. We will publish the results and update them biennially at www.DownSyndromeQualityOfLife.com.

COVID-19 in patients with Down syndrome: A systematic review.

INTRODUCTION: Down syndrome (DS) is associated with multiple comorbid conditions and chronic immune dysfunction. Persons with DS who contract COVID-19 are at high risk for complications and have a poor prognosis. We aimed to study the clinical symptoms, laboratory and biochemical profiles, radiologic findings, treatment, and outcomes of patients with DS and COVID-19. METHOD: We systematically searched PubMed, MEDLINE, Web of Science, Scopus, and the Cochrane Library using the keywords COVID-19 or coronavirus or SARS-CoV-2 and DS or trisomy 21. Seventeen articles were identified: eight case reports and nine case series published from December 2019 through March 2022, with a total of 55 cases. RESULTS: Patients averaged 24.8 years (26 days to 60 years); 29 of the patients were male. The most common symptoms were fever, dyspnea, and cough. Gastrointestinal and upper respiratory tract symptoms were commonly reported for pediatric patients. The most common comorbidities present in patients with DS were obesity (49.0%), hypothyroidism (21.6%) and obstructive sleep apnea (15.6%). The patients were hospitalized for a mean of 14.8 days. When the patients were compared with the general COVID-19 population, the mean number of hospitalized days was higher. Most patients had leukopenia, lymphopenia, and elevated inflammatory markers (d-dimer and C-reactive protein). Bilateral infiltrations and bilateral ground-glass opacifications were frequently seen in chest radiographs and chest computed tomographic imaging. Most of the patients were treated with methylprednisolone, macrolides, and hydroxychloroquine. Of the 55 patients, 22 died. The mean age of the patients who died was 42.8 years. Mortality rate was higher in individuals with DS over 40 years of age. CONCLUSION: More studies are needed to better understand COVID-19 infections among persons with DS. In addition, the study was limited by a lack of statistical analyses and a specific comparison group.

Definition, assessment and management of frailty for people with intellectual disabilities: A scoping review.

BACKGROUND: People with intellectual disabilities may experience frailty earlier than the general population. This scoping review aimed to investigate how frailty is defined, assessed, and managed in adults with an intellectual disability; factors associated with frailty; and the potential impact of COVID-19 on frailty identification and management. METHOD: Databases were searched from January 2016 to July 2023 for studies that investigated frailty in individuals with intellectual disabilities. RESULTS: Twenty studies met the inclusion criteria. Frailty prevalence varied between 9% and 84%. Greater severity of intellectual disability, presence of Down syndrome, older age, polypharmacy, and group home living were associated with frailty. Multiagency working, trusted relationships and provision of evidence-based information may all be beneficial in frailty management. CONCLUSION: Frailty is common for people with intellectual disabilities and is best identified with measures specifically designed for this population. Future research should evaluate interventions to manage frailty and improve lives.

A systematic review and meta-analysis of serum lipid concentrations in people with Down syndrome.

BACKGROUND: Down syndrome (DS) is the most prevalent chromosomal disorder, being the leading cause of intellectual disability. The increased life expectancy of individuals with DS has led to a shift in the incidence of non-communicable chronic diseases, resulting in new concerns, particularly cardiovascular disease (CVD) and Alzheimer's disease. This study aimed to analyse the blood lipid profile of a large DS cohort to establish a baseline for evaluating health risk parameters. METHODS: A comprehensive literature search was conducted on PubMed and Virtual Health Library databases to identify original articles published before July 2022. Selected studies were included in the meta-analysis. RESULTS: Fifteen studies reporting serum lipid levels in individuals with DS were incorporated into the analysis. The meta-analysis used the means and standard deviations extracted from the selected studies. The analysis encompassed 671 participants in the DS group and 898 euploid controls. The results indicated significant differences in total cholesterol [C] (mean difference [MD]: -3.34; CI: 95%: -4.94 to -1.73; P < 0.0001), HDL-C (MD: -3.39; CI: 95%: -6.72 to -0.06; P = 0.05) and triglycerides (MD: 21.48; CI: 95%: 9.32 to 33.65; P = 0.0005) levels between individuals with DS and their control counterparts. CONCLUSIONS: Individuals with DS have less favourable blood lipid concentrations than their controls, particularly HDL-C, triglycerides, and total-C, even when grouped by age. These findings underscore the importance of closer monitoring of lipid profiles in people with DS and the necessity for specific cut-offs for this population, considering the risk for ischemic heart and Alzheimer's diseases.

Creatinine levels in French children with Down syndrome up to ten years old.

Assess creatinine levels in French children with Down syndrome (DS) on the basis of the relationship between creatinine levels and age. The study included 279 children with DS aged 0 to 10 years who had been regularly monitored between 2004 and 2021 in a single genetics department and who had had at least one creatinine measurement. The creatinine level curves were established by estimating the median and the quantiles of order 2.5 and 97.5% according to age. A Generalized Additive Model for Location, Scale, and Shape was used. The results showed higher creatinine levels in children with DS than in children from the general population.   Conclusion: The present results allow to propose an original chart of creatinine levels according to age in French children with DS, which should help optimize their medical management and improve the early detection of renal diseases. What is Known: • Creatinine is a product of muscle breakdown and depends on muscle mass and children with Down syndrome have muscle and growth characteristics that differ from those of the general paediatric population. • Serum creatinine values in Japanese children with DS are higher than those of children from the general Japanese population. What is New: • Creatinine values in French children with DS are higher than those of children from the general French population. • The proposed original chart for creatinine values according to age, specifically designed for individuals up to 10 years old, should serve for further investigation, prevention, and follow-up of children with DS.

Analysis of the circumstances associated with death and predictors of mortality in Spanish adults with Down syndrome, 1997-2014.

OBJECTIVES: Characterise the circumstances associated with death during admission of adults with Down syndrome (DS) and to identify predictors of mortality. PATIENTS AND METHODS: Observational study based on data on all emergent admissions of adults with DS to hospitals of the Spanish National Health System between 1997 and 2014. We analysed epidemiological and clinical variables. RESULTS: We analysed admissions of 11,594 adults with DS, mean age 47 years. 1715 patients died (15%), being the highest mortality (35%) in individuals aged 50-59. A past medical history of cerebrovascular disease (aOR 2.95 [2.30-3.77]) or cancer (aOR 2.79 [2.07-3.75]), gross aspiration's admission (aOR 2.59 [2.20-3.04]), immobility (aOR 2.31 [1.46-3-62]), and readmission within 30 days (aOR 2.43 [2.06-2.86]) were identified as predictors of mortality. CONCLUSIONS: Adults with DS have a high in-hospital mortality rate. The main predictors of death were cerebrovascular disease, cancer, early readmission, and conditions commonly associated with advanced dementia.

Impact of Down Syndrome on Survival Among Patients With Congenital Heart Disease.

BACKGROUND: Increasing survival among patients with congenital heart disease (CHD) has recently been reported. However, the impact of Down syndrome (DS) in patients with CHD is still debated. We aimed to estimate survival in patients with CHD with versus without DS compared with matched controls from the general population without CHD or DS. METHODS AND RESULTS: We linked data from Swedish health registries to identify patients with CHD born between 1970 and 2017. Data from the Total Population Register were used to match each patient with CHD by sex and birth year with 8 controls without CHD or DS. A Cox proportional regression model was used to estimate mortality risk, and Kaplan-Meier curves were analyzed for the survival analysis. We identified 3285 patients with CHD-DS, 64 529 patients with CHD without DS, and 26 128 matched controls. The mortality risk was 25.1 times higher (95% CI, 21.3-29.5) in patients with CHD-DS versus controls. The mortality rate was 2 times higher (95% CI, 1.94-2.31) for patients with CHD with versus without DS. Lower mortality was found during the second versus first birth periods in patients with CHD-DS compared with controls; hazard ratio: 46.8 (95% CI, 29.5-74.0) and 17.7 (95% CI, 12.8-24.42) in those born between 1970 and 1989 versus 1990 and 2017, respectively. CONCLUSIONS: In this retrospective cohort study, the mortality risk among patients with CHD-DS was 25 times higher compared with matched controls and 2 times higher compared with patients with CHD without DS. Survival was higher in patients with CHD-DS born after versus before 1990, coinciding with the modern era of congenital heart care.

Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era.

Code status is a label in the medical record indicating a patient's wishes for end-of-life (EOL) care in the event of a cardiopulmonary arrest. People with intellectual disabilities had a higher risk of both diagnosis and mortality from coronavirus infections (COVID-19) than the general population. Clinicians and disability advocates raised concerns that bias, diagnostic overshadowing, and ableism could impact the allocation of code status and treatment options, for patients with intellectual disabilities, including Down syndrome (DS). To study this, retrospective claims data from the Vizient® Clinical Data Base (used with permission of Vizient, all rights reserved.) of inpatient encounters with pneumonia (PNA) and/or COVID-19 at 825 hospitals from January 2019 to June 2022 were included. Claims data was analyzed for risk of mortality and risk of "Do Not Resuscitate" (DNR) status upon admission, considering patient age, admission source, Elixhauser comorbidities (excluding behavioral health), and DS. Logistic regression models with backward selection were created. In total, 1,739,549 inpatient encounters with diagnoses of COVID-19, PNA, or both were included. After controlling for other risk factors, a person with a diagnosis of DS and a diagnosis of COVID-19 PNA had 6.321 odds ratio of having a DNR status ordered at admission to the hospital compared with those with COVID-19 PNA without DS. The diagnosis of DS had the strongest association with DNR status after controlling for other risk factors. Open and honest discussions among healthcare professionals to foster equitable approaches to EOL care and code status are needed.

Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics.

BACKGROUND: This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without keratoconus. METHODS: This prospective observational study included participants with DS ≥10 years old. Keratoconus diagnosis, risk factors and corneal tomographic characteristics were recorded. Participants underwent slit-lamp biomicroscopy, Scheimpflug corneal tomography, corneal topography and autorefraction. A diagnosis of keratoconus (DS-KC), suspect keratoconus (DS-SK) and non-keratoconus (DS-NK) was made based on expert review of scans by three fellowship trained anterior segment ophthalmologists. Corneal tomography parameters from one eye of each participant were analysed. RESULTS: Keratoconus affected 50 (26.3%) of 190 participants, diagnosed by corneal tomography, topography or slit-lamp signs. Corneal hydrops affected 14.0% of DS-KC participants. Eye rubbing was a significant risk factor for keratoconus (p = 0.036). 175 (92%) participants could undertake corneal tomography of which tomography assessment alone identified 47 (26.9%) DS-KC participants, 64 (36.6%) DS-SK participants and 64 (36.6%) DS-NK participants. Significant differences (p < 0.001) were identified when the DS-KC, DS-SK and DS-NK groups were compared in maximum keratometry and posterior elevation at the thinnest point respectively: median (interquartile range) 50.20 (10.30D), 47.60 (1.95D), 46.50 (2.40D); 24.0 (38.00 µm), 10.00 (13.75 µm), 8.00 (6.00 µm). The DS-SK and DS-NK cohorts had similar minimum pachymetry, however, had several significantly different parameters among which included greater maximum keratometry, posterior elevation at the thinnest point in the DS-SK group. CONCLUSIONS: Keratoconus is common in DS. Keratoconus screening with corneal tomography is recommended for early detection.

Oral health characteristics in children and adolescents with Down syndrome.

AIM: To compare oral health indicators of children/adolescents with Down syndrome (DS) with a group of children/adolescents without DS. METHODS AND RESULTS: This cross-sectional study included 144 individuals with DS, ages 4 to 18 years, matched for age and sex with a group of 144 individuals without DS, and their parents/caregivers. Parents/caregivers completed a questionnaire regarding sociodemographic information and habits related to their children's oral health. Clinical examination of the children/adolescents evaluated dental caries experience (DMFT/dmft), bleeding on periodontal probing, presence of visible plaque, clinical consequences of untreated dental caries (PUFA/pufa), and malocclusion (DAI). The chi-square test, linear by linear test, and Mann-Whitney test were used to compare the variables between the groups (p < .05). Children/adolescents without DS brushed their teeth more times per day (p < .001) and had a higher frequency of daily sugar intake (p < .001). The children/adolescents in the DS group had a greater presence of gingival bleeding (p < .001) and had a greater number of cases of "severe malocclusion" and "very severe malocclusion" (p = .001). No difference was found in the prevalence of dental caries between the two groups. CONCLUSION: The children/adolescents in the DS group had a greater presence of gingival bleeding during the clinical examination and had a greater need for orthodontic treatment.

Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.

Patients with Down syndrome (DS) are at risk of multiorgan dysfunction; kidney and urological impairment are common. This is due to a likely increased risk of congenital kidney and urological malformations (odds ratio of 4.5 compared to the general population in one study), more frequent associated comorbidities at risk of kidney dysfunction (such as prematurity in 9-24% of children, intrauterine growth retardation or low birth weight in 20%, and congenital heart disease in 44%), and more frequent lower urinary tract dysfunction (reported in 27-77% of children with DS). If present, malformations and comorbidities at risk of kidney dysfunction warrant regular kidney monitoring in addition to their treatment. Serum creatinine in children with DS has been shown to be higher than in the general population and asymptomatic hyperuricemia is reported in 12-33% of children or young adults with DS. Moreover cryptorchidism and testicular cancer are also more common and should be detected by clinical examination. Thus, persons with DS at risk of presenting kidney and urological impairment should be identified by prenatal ultrasonography, comorbidities at risk of kidney sequelae considered, and during regular medical follow-up, clinically examined and questioned to diagnose testicular anomalies and lower urinary tract dysfunction. This is of importance as such kidney and urological impairments are associated with impaired quality of life and mental health, and risk of kidney failure.

Prevalence, associated risk factors, and respiratory event distribution of obstructive sleep apnea in children with Down syndrome.

PURPOSE: Children with Down Syndrome (DS) have a high prevalence of obstructive sleep apnea (OSA). We aimed to assess OSA prevalence in a single center cohort of children with DS, identify associated risk factors of obstructive respiratory events, and examine the influence of different sleep stages and body positions on respiratory events distribution. METHODS: Single center retrospective study that included children with DS who underwent overnight polysomnogram (PSG). OSA severity was categorized by obstructive apnea-hypopnea index (OAHI) as mild (1.5-4.9 events/h), moderate (5-9.9 events/h), and severe (≥ 10 events/h). A logistic regression analysis was used to examine the association between OSA-related risk factors in normal and abnormal OAHI category and in REM and Non-REM predominant AHI groups. RESULTS: PSG data were available for 192 children with a median age of 5 years (IQR 7). OSA prevalence was 82.3% (27.1% mild, 19.8% moderate, and 35.4% severe). A logistic regression model identified BMI and being an African American as significant predictors for OAHI severity. In children with OSA, the median OAHI was 7.6 and obstructive respiratory events were more common in REM sleep and in the supine position. The median REM OAHI was 20 events/h (IQR: 24.4), whereas the median Non-REM OAHI was 5.2 events/h (IQR: 12.6 p < 0.0001). Similarly, supine OAHI was 11.6 (IQR: 19.3) and off supine OAHI was 6.6 (IQR: 11.6, p = 0.0004). Age was a significant predictor (p = 0.012) for Non-REM predominant OSA which was present in 15.2% of children with OSA. CONCLUSION: Children with DS have a high prevalence of OSA. Higher BMI and being an African American were significant associated risk factors for higher OAHI. Obstructive respiratory events in children with DS occur predominantly in REM sleep and in the supine position. Non-REM predominant distribution of respiratory events was noted in older children with DS.

Factors associated with halitosis reported by parents/caregivers in individuals with Down syndrome.

AIMS: Data on halitosis among individuals with Down syndrome (DS) are scarce. The aim was to evaluate factors associated with the occurrence of halitosis reported by parents/caregivers (P/Cs) in individuals with DS. METHODS AND RESULTS: A cross-sectional study was conducted in non-governmental assistance institutions in the State of Minas Gerais-Brazil. P/Cs have answered an electronic questionnaire with sociodemographic, behavioral and oral health data. Factors associated with halitosis were evaluated by multivariate logistic regression. The sample comprised 227 P/Cs (age 48.8 ± 13.2 years; 82.9% mothers) of individuals with DS (age 20.8 ± 13.5 years). The prevalence of halitosis in the total sample was 34.4% (n = 78) and its occurrence was associated: 1) in individuals with DS ≤18 years old (26.2%; n = 27)-negative perception of oral health (OR = 3.91); 2) in individuals with DS > 18 years (41.1%; n = 51)-gingival bleeding (OR = 4.53), absence of tongue brushing (OR = 4.50), negative perception of oral health (OR = 2.72). CONCLUSIONS: The occurrence of halitosis in individuals with DS reported by P/Cs was relevant and associated with dental factors, having a negative impact on the perception of oral health. Oral hygiene practices, especially tongue brushing, should be reinforced to prevent and control halitosis.

Association of Down syndrome with periodontal diseases: Systematic review and meta-analysis.

BACKGROUND: Down syndrome (DS) is distinguished by cognitive disability, a concave profile, and systemic complications. Oral diseases have been reported to be common in DS patients. OBJECTIVE: To investigate the association between DS and periodontal diseases. METHODS: Two independent reviewers searched six bibliographic databases up to January 2023 and used additional search methods to identify published studies on gingivitis or periodontitis in people with and without DS. Meta-analysis, risk of bias, sensibility analysis, publication bias, and evidence grading were all carried out. RESULTS: Twenty-six studies were included for analysis. There was a tendency for increased plaque accumulation, periodontal probing, periodontal attachment level, bleeding on probing and indices in DS individuals. Meta-analysis of 11 studies showed a significant association between DS and periodontitis (OR 3.93; 95% CI 1.81-8.53). Probing depth was significantly high in individuals with DS as compared to controls (mean difference 0.40 mm; 95% CI 0.09-0.70). Gingivitis was significantly associated (OR 1.93; 95% CI 1.09-3.41) with DS in four studies. The evidence was classified as 'moderate certainty'. CONCLUSION: Medium/low-quality studies demonstrate that Down syndrome is strongly associated with periodontitis and moderately associated with gingivitis.

Causes of mortality among adults with Down syndrome before and after the COVID-19 pandemic in Spain.

BACKGROUND: The life expectancy of people with Down syndrome (DS) is limited by Alzheimer's disease (AD)-related deaths, mainly due to respiratory infections. The emergence of the COVID-19 pandemic could have changed known, past trends in mortality in this population. We analysed the differences in causes of mortality between individuals with DS deceased before and after the onset of the pandemic. METHOD: This is a cross-sectional study of adults with DS recruited at a tertiary, university outpatient clinic in Madrid, Spain. Demographic and clinical data were retrospectively collected from their medical records, including information on their deaths, if any. RESULTS: Five hundred seventy-two adults were included in the study, and 67 (11.7%) died. The main cause of death was respiratory infections, which occurred in 36 participants [9 (45.0%) before, and 27 (58.7%) after the appearance of COVID-19]. No significant differences were found in the determinants of pre-pandemic and post-pandemic death after adjusting for age and AD, except for an association between the use of psychotropic medication and death in the post-pandemic period (odds ratio: 2.24; 95% confidence interval: 1.04-4.82). Vaccination against COVID-19 showed a marked protective effect against mortality (odds ratio: 0.0002; 95% confidence interval: 6.7e10-6 to 0.004). CONCLUSIONS: The appearance of COVID-19 has not impacted the overall trend of increase in mean age of death of adults with DS in our milieu, probably thanks to the very important protective effect of vaccination, which supports prioritising people with DS in future immunisation campaigns. The association between psychotropic medication use and mortality requires further exploration.

A Comparison of Family Management Between Families of Children With Autism Spectrum Disorder and Families of Children With Down Syndrome.

INTRODUCTION: This cross-sectional study aimed to (1) compare family management between families of children with autism spectrum disorder (ASD) or Down syndrome and (2) evaluate the contribution of the child (ASD behaviors, feeding difficulties, sleep disturbances), caregiver (mental health) and family (social support) factors to the caregiver's perceived condition management ability and effort. METHOD: Eighty-five caregivers (56 ASD, 29 Down syndrome) completed quantitative instruments online. Data analysis included independent samples t-tests and multiple linear regression. RESULTS: There were no significant differences in the dimensions of family management between groups. More ASD behaviors were associated with lower condition management ability and higher condition management effort. Lower perceived social support and higher caregiver age were associated with lower condition management ability. DISCUSSION: Integrating care into family life may be more challenging when the child has more social differences and behavioral rigidity. Nursing care should include an assessment of family social support.