Causes of Hospitalization in Children with Down Syndrome.

Background and Objectives: Down syndrome (DS) is the most common chromosomal disorder in the world. It is caused by the imbalance of the chromosomal constitution of 21 by free trisomy, translocation or mosaicism. Children and adolescents with Down syndrome have immune dysregulation and are more susceptible to infections. This study aims to evaluate hospitalizations of children and adolescents with DS in the pediatric ward of Botucatu Clinics Hospital (HCFMB) and to classify the population of children included in the study according to age, diagnosis, outpatient follow-up, length of stay and need for the intensive care unit (ICU). Thus, it will be possible to improve care for these children, aiming to reduce these hospitalizations. Materials and Methods: This study was an observational, cross-sectional study, with retrospective data collected from the last nine years of hospitalization, from January 2013 to December 2021, from children and adolescents with DS in the pediatric ward, emergency room, and the ICU of HCFMB. Children hospitalized in this period in the pediatric ward and ICU, in the age range of 30 days to 15 years, were included in this study. The evaluation of comorbidities that culminated in the need for hospitalization in this population can be the focus of actions to improve the diagnoses and conducts for this population, which can prevent worsening illness and hospitalizations in future populations. Results: In this analysis, 80 children with DS were evaluated, with a total of 283 hospitalizations. The most prevalent age group was 1 to 3 years, and the main cause was due to problems in the respiratory system (99 cases). Among the respiratory causes, the main cause of hospitalization was due to pneumonia in 50% of cases, followed by acute respiratory failure in 14%. The average hospitalization time was 8 days, and in 49 hospitalizations, the children required the ICU. The main cause of hospitalization in the ICU was due to respiratory causes (36%), followed by cardiac malformations (14%). During the ICU hospitalizations, there were 13 deaths, and we observed a higher prevalence of heart conditions and, in some cases, positive urine cultures in these children. Conclusions: The Hospital serves as a reference for pediatric hospitalizations within its region and beyond, owing to its specialized capabilities. The main causes of hospitalization were those related to the respiratory system and cardiac malformations. Roughly one-third of the children required admission to the intensive care unit.

Feeding practices and dietary intake in Brazilian children with Down syndrome: A cross-sectional study.

BACKGROUND: Studies investigating the quality of the diet and dietary intake of children with Down syndrome (DS) are required because the features attributed to the syndrome can affect growth, development and quality of life. METHODS: This cross-sectional study was conducted with 77 Brazilian children with DS between 5 and 36 months of age receiving care at the multidisciplinary outpatient clinic of the University Hospital. Participants' sociodemographic, dietary and anthropometric data were collected from the care protocols. Dietary data were collected from 24-h recalls and dietary practices were assessed according to the WHO dietary guidelines. Associations between inadequate feeding practices and demographic variables were assessed using logistic regression models. RESULTS: Fruits, milk or infant formula, vegetables, beans and meat were among the five most consumed foods by the children investigated. Overall, we observed a high number of cases of early weaning (50.6%), low minimum dietary diversity (MDD; 40.3%), inadequate consistency for age (64.9%), early presence of ultra-processed foods (76.6%), sugars and sweets (33.8%) in the diet of the children with DS. In the associations of inadequate feeding practices by age group, low MDD [odds ratio (OR): 18.6; 95% confidence interval (CI): 3.4; 57.1] and inadequate consistency (OR: 6.65; 95% CI: 1.8; 24.7) were more frequent among children aged below 12 months while this relationship was inverse for early introduction of sugar and sweets (OR: 0.04; 95% CI: 0.01; 0.29). CONCLUSION: Our findings showed a high number of cases of inadequate dietary practices in children with DS investigated, which could adversely affect the long-term health of this population.

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.

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.

Adapting a quality of life scale for children and young people with Down syndrome in Chile.

In Chile, there are no validated instruments for the evaluation of quality of life (QoL) of people with Down syndrome (DS). To analyze construct validity and reliability of the KidsLife-Down scale in Chile to measure QoL in people with DS aged from 4 to 21 years. Families of boys, girls, and young people with DS between 4 and 21 years were invited to participate. The scale was answered by relatives or caregivers. To assess the internal consistency, reliability tests were performed using Cronbach's alpha coefficient. A confirmatory factor analysis was performed. The scale was answered by 531 relatives or caregivers. Cronbach's coefficient was greater than 0.7 in all the items. The confirmatory factor analysis of the scale allowed its validation for clinical use in the Chilean population. "Kids Life Down-Chile" scale has adequate psychometric properties to be used in clinical practice and to help us improve QoL with better support strategies.

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.

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.

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.

Caracterización de recién nacidos con síndrome de Down: experiencia de cuatro años en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell, Montevideo, Uruguay / Characterization of newborns with Down syndrome: 4-year experience at the Pereira Rossell Hospital's Neonatology Department, Montevideo, Uruguay / Caracterização de recém-nascidos com síndrome de Down: experiência de 4 anos no serviço de neonatologia do Centro Hospitalar Pereira Rossell, Montevidéu, Uruguai

Introducción: la trisomía 21 o síndrome de Down (SD) es la alteración cromosómica más frecuente, con una incidencia general de 1 en 600 a 800 recién nacidos vivos. Su diagnóstico es de sospecha clínica y confirmación citogenética. Las cardiopatías congénitas y las malformaciones gastrointestinales son frecuentes, al igual que las alteraciones hematológicas y desórdenes tiroideos. Material y método: estudio descriptivo con el objetivo de detallar las características fenotípicas, genéticas, malformaciones y morbilidades asociadas en los pacientes con trisomía 21 nacidos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell entre el 1 de julio de 2017 y el 1 de julio de 2021. Resultados: se incluyeron 56 pacientes, 30/56 fueron de sexo masculino, la media de edad gestacional fue de 37 semanas. Un total de 17 pacientes fue pretérmino. De los pacientes estudiados, 45/56 presentaron trisomía libre en el cariotipo. La hipotonía fue el signo más frecuentemente observado en el examen clínico. El defecto congénito más frecuente, en 34 pacientes, fue la cardiopatía congénita. La más frecuente fue la comunicación interauricular (CIA), seguida de la comunicación interventricular (CIV) en segundo lugar y el canal atrioventricular (canal AV) en tercer lugar. Se encontraron 23 pacientes con alteraciones en el hemograma, siendo la plaquetopenia la alteración más observada. A nueve pacientes se les realizó diagnóstico de hipotiroidismo y la mortalidad global durante la internación fue de 1,78%. Conclusiones: se destaca la alta prevalencia de prematurez y de defectos congénitos asociados, siendo la cardiopatía congénita la más frecuente.

Introduction: trisomy 21 or Down Syndrome is the most frequent chromosomal alteration, with a general incidence of 1 in 600 to 800 live newborns. Diagnosis is based on clinical suspicion and cytogenetic confirmation. Congenital heart disease and gastrointestinal malformations are frequent, as are hematological abnormalities and thyroid disorders. Materials and Methods: descriptive study with the objective of describing the phenotypic and genetic characteristics, malformations and associated morbidities in patients with trisomy 21 born in the neonatology service of the Pereira Rossell Hospital between July 1, 2017 and July 1, 2021. Results: 56 patients were included, 30/56 were male, the mean gestational age was 37 weeks. A total of 17 patients were preterm. Of the patients studied, 45/56 presented free trisomy in the karyotype. Hypotonia was the most frequently observed sign on clinical examination. The most common birth defect, in 34 patients, was congenital heart disease. Among them, the most frequent defect was interatrial septal defect (CIA), followed by interventricular septal defect (VSD) and thirdly, atrioventricular canal (AV canal). Twenty-three patients with alterations in the complete blood count were found, being thrombocytopenia the most observed alteration. Nine patients were diagnosed with hypothyroidism and overall mortality during hospitalization was 1.78%. Conclusions: we must highlight the high prevalence of prematurity and associated congenital defects, being congenital heart disease the most frequent.

Introdução: a Trissomia do 21 ou Síndrome de Down é a alteração cromossômica mais frequente, com incidência geral de 1 em 600 a 800 recém-nascidos vivos. Seu diagnóstico é baseado na suspeita clínica e na confirmação citogenética. Doenças cardíacas congênitas e malformações gastrointestinais são frequentes, assim como anomalias hematológicas e distúrbios da tireoide. Materiais e métodos: estudo descritivo com objetivo de descrever as características fenotípicas e genéticas, malformações e morbidades associadas em pacientes com trissomia dos 21 nascidos no serviço de Neonatologia do Hospital Pereira Rossell entre 1º de julho de 2017 e 1º de julho de 2021. Resultados: foram incluídos 56 pacientes, 30/56 do sexo masculino, idade gestacional média de 37 semanas. Um total de 17 pacientes foram prematuros. Dos pacientes estudados, 45/56 apresentavam trissomia livre no cariótipo. A hipotonia foi o sinal mais frequentemente observado no exame clínico. O defeito congênito mais comum, em 34 pacientes, foi a cardiopatia congênita. Dentre eles, o mais frequente foi a comunicação interatrial (CIA), seguida pela comunicação interventricular (CIV) em segundo lugar e pelo canal atrioventricular (canal AV) em terceiro lugar. Foram encontrados 23 pacientes com alterações no hemograma completo, sendo a trombocitopenia a alteração mais observada. Nove pacientes foram diagnosticados com hipotireoidismo e a mortalidade geral durante a internação foi de 1,78%. Conclusões: destaca-se a alta prevalência de prematuridade e defeitos congênitos associados, sendo as cardiopatias congênitas as mais frequentes.

[Risk factors in the origin of Down syndrome]. / Factores de riesgo en el origen del síndrome de Down.

Down syndrome (DS) is the most common autosomal aneuploidy and the leading cause of intellectual disability of genetic origin worldwide. It is identified as a syndrome in which the variability of its clinical manifestations and the severity of its phenotype have a multifactorial origin. Worldwide prevalence ranges between 1 per 700 live births and several factors that may be involved in the origin of DS have been proposed. Our objective was to describe updates regarding risk factors in the cytogenetic origin or cause of DS. We conducted a narrative review study in which a literature search was carried out from January to June 2022 in databases such as PubMed, EBSCO, Medigraphic, ClinicalKey, and meta-search engines such as Elsevier and Evidence Alerts. Only articles published in the last 10 years in English and Spanish were included. The search terms used were: Down syndrome, risk factors, prevention. Although DS is a very common chromosomal pathology worldwide, there is no single risk factor at the origin of meiotic or mitotic nondisjunction of chromosome 21, but rather each of the associated risk factors contributes to a greater or lesser degree to a cytogenetic predisposition in the etiology of trisomy 21. During the review it was identified that the main established risk factor associated with DS is still advanced maternal age (≥ 35 years).

El síndrome de Down (SD) es la aneuploidía de autosomas más frecuente y la primera causa de discapacidad intelectual de origen genético a nivel mundial. Se identifica como una condición de vida en la que la variabilidad de sus manifestaciones clínicas y la gravedad del fenotipo tienen un origen multifactorial. La prevalencia mundial oscila entre 1 por cada 700 nacidos vivos y se han propuesto diversos factores de riesgo que pueden estar implicados en el origen del SD. Nuestro objetivo fue describir las actualizaciones con respecto a los factores de riesgo en el origen o causa citogenética del SD. Se realizó una revisión narrativa en la cual se condujo una búsqueda bibliográfica en el periodo de enero a junio de 2022 en bases de datos como PubMed, EBSCO, Medigraphic, ClinicalKey y metabuscadores como Elsevier y Evidence Alerts. Se incluyeron únicamente artículos publicados en los últimos 10 años en idioma inglés y español. Los términos de búsqueda utilizados fueron: Down syndrome, risk factors, prevention. Aunque el SD es una patología cromosómica muy frecuente a nivel internacional, no existe un factor de riesgo único en el origen de la no disyunción meiótica o mitótica del cromosoma 21, sino que cada uno de los factores de riesgo asociados contribuye en mayor o menor medida a una predisposición citogenética en la etiología de la trisomía 21. Durante la revisión se identificó que el principal factor de riesgo establecido asociado a SD sigue siendo la edad materna avanzada (≥ 35 años).

Incidence of urological tumors in Down's syndrome: a systematic review and meta-analysis.

BACKGROUND: Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general population. OBJECTIVE: This systematic review aimed to estimate the incidence of urological tumors in patients with Down's syndrome. STUDY DESIGN: We conducted a search strategy in MEDLINE (OVID), EMBASE, LILACS, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to nowadays. We assessed the risk of bias and performed a meta-analysis. Also, the heterogeneity between trials was evaluated by the I2 test. We completed the subgroup analysis based on the type of urological tumor (testis, bladder, kidney, upper urological tract, penile, retroperitoneum). RESULTS: We found 350 studies by the search strategy. After carefully reviewing, full-text studies were included. 16,248 individuals with Down's syndrome were included, and 42 patients presented with urological tumors. There was a total incidence of 0.1%, 95%CI (0.06-0.19), I2 61%. The most common urological tumor reported was testicular. We found six studies describing 31 events and an overall incidence of 0.19%, 95%CI (0.11-0.33), I2: 51%. Other studies reported kidney, penile, upper urinary tract, bladder, and retroperitoneum tumors with a very low incidence, 0.02%, 0.06%, 0.03%, 0.11%and 0.07%, respectively. DISCUSSION: Regarding non-testicular urological tumors, we found incidences as low as 0.02% in kidney cancer or 0.03% in the upper-urothelial tract tumors. It is also lower than the general population. Compared to the age of onset of patients, it is also lower than the general population, perhaps related to a shorter life expectancy. As a limitation, we found a high heterogeneity and a lack of information regarding non-testicular tumors. CONCLUSION: There was a very low incidence of urological tumors in people with Down's syndrome. Testis tumor was the most frequently described in all cohorts and within a normal distribution range.

Narrowing the Survival Gap: Trends in Survival of Individuals with Down Syndrome with and without Congenital Heart Defects Born 1979 to 2018.

OBJECTIVE: To evaluate the hypothesis that childhood survival for individuals with Down syndrome (DS) and congenital heart defects (CHDs) has improved in recent years, approaching the survival of those with DS without CHDs. STUDY DESIGN: Individuals with DS born from 1979 to 2018 were identified through the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system administered by the Centers for Disease Control and Prevention. Survival analysis was performed to evaluate predictors of mortality for those with DS. RESULTS: The cohort included 1671 individuals with DS; 764 had associated CHDs. The 5-year survival in those with DS with CHD improved steadily among individuals born in the 1980s through the 2010s (from 85% to 93%; P = .01), but remained stable (96% to 95%; P = .97) in those with DS without CHDs. The presence of a CHD was not associated with mortality through 5 years of age for those born 2010 or later (hazard ratio, 2.63; 95% CI, 0.95-8.37). In multivariable analyses, atrioventricular septal defects were associated with early (<1 year) and late (>5 year) mortality, whereas ventricular septal defects were associated with intermediate (1-5 years) mortality and atrial septal defects with late mortality, when adjusting for other risk factors. CONCLUSIONS: The gap in 5-year survival between children with DS with and without CHDs has improved over the last 4 decades. Survival after 5 years remains lower for those with CHDs, although longer follow-up is needed to determine if this difference lessens for those born in the more recent years.

Ophthalmic manifestations in children with Down Syndrome in Bogotá, Colombia.

BACKGROUND: To describe the ocular features of a cohort of children with Down Syndrome (DS) in Bogotá, Colombia. METHODS: We performed a cross-sectional study, evaluating 67 children with DS. A pediatric ophthalmologist performed a complete optometric and ophthalmological evaluation of each child, including visual acuity, ocular alignment, external eye examination, biomicroscopy, auto-refractometry, retinoscope in cycloplegia, and fundus examination. Results were reported as frequency distribution tables with percentages for categorical variables and means and standard deviation or median and interquartile ranges for continuous variables, according to their distribution. We used the Chi-square test or Fisher's exact test for categorical variables and ANOVA or Kruskal-Wallis for continuous variables when indicated. RESULTS: A total of 134 eyes from 67 children were evaluated. Males represented 50.7%. The children's age ranged from 8-16 years, with a mean of 12.3 (SD 2.30). The most frequent refractive diagnosis per eye was hyperopia (47%), followed by myopia (32.1%) and mixed astigmatism (18.7%). The most frequent ocular manifestations were oblique fissure (89.6%), followed by amblyopia (54.5%) and lens opacity (39.4%). Female sex was associated with strabismus (P = 0.009) and amblyopia (P = 0.048). CONCLUSION: Our cohort had a high prevalence of disregarded ophthalmological manifestations. Some of these manifestations, such as amblyopia, can be irreversible and severely affect the neurodevelopment of DS children. Therefore, ophthalmologists and optometrists should be aware of the visual and ocular affection of children with DS to assess and provide appropriate management. This awareness could improve rehabilitation outcomes for these children.

Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic.

OBJECTIVE: To address gaps in routine recommended care for children with Down syndrome, through quality improvement during the coronavirus disease 2019 (COVID-19) pandemic. STUDY DESIGN: A retrospective chart review of patients with Down syndrome was conducted. Records of visits to the Massachusetts General Hospital Down Syndrome Program were assessed for adherence to 5 components of the 2011 American Academy of Pediatrics (AAP) Clinical Report, "Health Supervision for Children with Down Syndrome." The impact of 2 major changes was analyzed using statistical process control charts: a planned intervention of integrations to the electronic health record for routine health maintenance with age-based logic based on a diagnosis of Down syndrome, created and implemented in July 2020; and a natural disruption in care due to the COVID-19 pandemic, starting in March 2020. RESULTS: From December 2018 to March 2022, 433 patients with Down syndrome had 940 visits. During the COVID-19 pandemic, adherence to the audiology component decreased (from 58% to 45%, P < .001); composite adherence decreased but later improved. Ophthalmology evaluation remained stable. Improvement in adherence to 3 components (thyroid-stimulating hormone, hemoglobin, sleep study ever) in July 2020 coincided with electronic health record integrations. Total adherence to the 5 AAP guideline components was greater for follow-up visits compared with new patient visits (69% and 61%, respectively; P < .01). CONCLUSIONS: The COVID-19 pandemic influenced adherence to components of the AAP Health supervision for children with Down syndrome, but improvements in adherence coincided with implementation of our intervention and reopening after the COVID-19 pandemic.

[Congenital heart disease in Down's syndrome]. / Abordaje terapéutico de cardiopatías congénitas en el síndrome de Down.

Background: Down syndrome is the most common chromosomal abnormality, it is associated with a wide variety of congenital heart defects, being considered as clinical elements of high infant morbidity and mortality. Objective. Objective: To describe the clinical outcomes of patients with Down syndrome undergoing surgery and interventionism as treatment for congenital heart disease at this Institution. Material and methods: 368 patients with Down syndrome and associated congenital heart disease were diagnosed. The variables studied were weight, stature, sex, age, type of heart disease, corrective procedure, length of stay in the hospital and intensive care unit, morbidity and mortality. Results: 368 pediatric patients underwent surgical or interventional correction. Of which 197 (54%) were female, the median age was 24 months (interquartile range [IQR]: 14-48) in the surgical group and 36 months (IQR: 17-85) in the interventional group. The most frequent congenital heart diseases were: PCA (31%), IVC (28%), CAV (20%), ASD (16%) and tetralogy of Fallot with 4% respectively. Hospital stay was 9 days (IQR: 7-15) in the surgical group and 3 days (IQR: 2-5) in the hemodynamic group. Morbidities were postoperative infection in 30 patients (14%) and complete atrioventricular block in 19 patients (9%). Overall mortality including both surgical and interventional was 2%. Conclusions: The therapeutic, surgical and interventional results in children with Down syndrome and congenital heart disease have improved very satisfactorily. The lower prevalence of the atrioventricular canal in the Mexican population is noteworthy. It is essential to carry out a cardiological evaluation of children with Down syndrome and those with congenital heart disease to correct them in a timely manner to promote survival and quality of life.

Antecedentes: El síndrome de Down es la anomalía cromosómica más frecuente y se asocia con defectos cardiacos congénitos, elementos clínicos de una alta morbilidad y mortalidad infantil. Objetivo: Describir los desenlaces clínicos de los pacientes con síndrome de Down sometidos a cirugía e intervencionismo como tratamiento de las cardiopatías congénitas en esta institución. Material y métodos: Estudio retrospectivo que incluyó pacientes menores de 18 años con síndrome de Down y patología cardiaca asociada durante los últimos 10 años. Las variables estudiadas fueron: peso, talla, sexo, edad, tipo de cardiopatía, procedimiento correctivo, tiempo de estancia intrahospitalaria y en unidad de terapia intensiva, morbilidad y mortalidad. Resultados: 368 pacientes pediátricos fueron llevados a corrección quirúrgica o intervencionista, de los cuales 197 (54%) pertenecían al sexo femenino, la mediana de edad fue de 24 meses (rango intercuartílico [RIQ]: 14-48) en el grupo quirúrgico y de 36 meses (RIQ: 17-85) en el intervencionista. Las cardiopatías congénitas más frecuentes fueron: persistencia del conducto arterioso (31%), comunicación interventricular (28%), canal atrioventricular (CAV) (20%), comunicación interauricular (16%) y tetralogía de Fallot con el 4% respectivamente. La estancia hospitalaria fue de 9 días (RIQ: 7-15) en el grupo quirúrgico y de 3 días (RIQ: 2-5) en el hemodinámico. Las morbilidades fueron infección postoperatoria en30 pacientes (14%) y en 19 pacientes (9%) bloqueo atrioventricular completo. La mortalidad global incluyendo tanto el quirúrgico como el intervencionista fue del 2%. Conclusiones: Los resultados terapéuticos, quirúrgicos e intervencionistas, enlos niños con síndrome de Down y cardiopatías congénitas han mejorado en forma muy satisfactoria. Es de destacar lamenor prevalencia del CAV en la población mexicana. Es indispensable realizar evaluación cardiológica a los niños consíndrome de Down y aquellos con cardiopatías congénitas llevarlos a corrección de manera oportuna para favorecer la sobrevida y calidad de vida.

Risk for Severe Illness and Death among Pediatric Patients with Down Syndrome Hospitalized for COVID-19, Brazil.

Down syndrome is the most common human chromosomal disorder. Whether Down syndrome is a risk factor for severe COVID-19 outcomes in pediatric patients remains unclear, especially in low-to-middle income countries. We gathered data on patients <18 years of age with SARS-CoV-2 infection from a national registry in Brazil to assess the risk for severe outcomes among patients with Down syndrome. We included data from 14,684 hospitalized patients, 261 of whom had Down syndrome. After adjustments for sociodemographic and medical factors, patients with Down syndrome had 1.8 times higher odds of dying from COVID-19 (odds ratio 1.82, 95% CI 1.22-2.68) and 27% longer recovery times (hazard ratio 0.73, 95% CI 0.61-0.86) than patients without Down syndrome. We found Down syndrome was associated with increased risk for severe illness and death among COVID-19 patients. Guidelines for managing COVID-19 among pediatric patients with Down syndrome could improve outcomes for this population.

Autism and Down syndrome: early identification and diagnosis.

BACKGROUND: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.

Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil.

Patients with Down syndrome (DS) are more affected by the Coronavirus Disease (COVID)-19 pandemic when compared with other populations. Therefore, the primary aim of our study was to report the death (case fatality rate) from SARS-CoV-2 infection in Brazilian hospitalized patients with DS from 03 January 2020 to 04 April 2021. The secondary objectives were (i) to compare the features of patients with DS and positive for COVID-19 (G1) to those with DS and with a severe acute respiratory infection (SARI) from other etiological factors (G2) to tease apart the unique influence of COVID-19, and (ii) to compare the features of patients with DS and positive for COVID-19 to those without DS, but positive for COVID-19 (G3) to tease apart the unique influence of DS. We obtained the markers for demographic profile, clinical symptoms, comorbidities, and the clinical features for SARI evolution during hospitalization in the first year of the COVID-19 pandemic in Brazil from a Brazilian open-access database. The data were compared between (i) G1 [1619 (0.4%) patients] and G2 [1431 (0.4%) patients]; and between (ii) G1 and G3 [222,181 (64.8%) patients]. The case fatality rate was higher in patients with DS and COVID-19 (G1: 39.2%), followed by individuals from G2 (18.1%) and G3 (14.0%). Patients from G1, when compared to G2, were older (≥ 25 years of age), presented more clinical symptoms related to severe illness and comorbidities, needed intensive care unit (ICU) treatment and non-invasive mechanical ventilation (MV) more frequently, and presented a nearly two fold-increased chance of death (OR = 2.92 [95% CI 2.44-3.50]). Patients from G1, when compared to G3, were younger (< 24 years of age), more prone to nosocomial infection, presented an increased chance for clinical symptoms related to a more severe illness; frequently needed ICU treatment, and invasive and non-invasive MV, and raised almost a three fold-increased chance of death (OR = 3.96 [95% CI 3.60-4.41]). The high case fatality rate in G1 was associated with older age (≥ 25 years of age), presence of clinical symptoms, and comorbidities, such as obesity, related to a more severe clinical condition. Unvaccinated patients with DS affected by COVID-19 had a high case fatality rate, and these patients had a different profile for comorbidities, clinical symptoms, and treatment (such as the need for ICU and MV) when compared with other study populations.

Anomalías congénitas frecuentes en Uruguay entre 2011 y 2014: importancia de un registro para la evaluación de las necesidades de salud / Frequent congenital anomalies in Uruguay in 2011-2014; importance of a medical record for health assessment / Anomalias congênitas frequentes no Uruguai entre 2011-2014, importância de um registro para avaliação das necessidades de saúde

Introducción: las anomalías congénitas (AC) son un problema de salud pública con impacto en la infancia, la mortalidad infantil (MI) y la discapacidad. En Uruguay, así como en otros países desarrollados, las AC y la prematuridad son las principales causas de MI. Objetivos: el objetivo de este trabajo fue analizar las anomalías más frecuentes en el país entre 2011 y 2014, y evaluar los factores de riesgo. Material y método: los datos se obtuvieron del Registro Nacional de Defectos Congénitos y Enfermedades Raras y Estadísticas Vitales del Ministerio de Salud Pública. Resultados: se determinó que prácticamente la mitad de los casos fueron: cardiopatías congénitas, síndrome de Down y defectos del tubo neural (anencefalia, encefalocele y mielomeningocele), representando 0,42% (812/191.820) y 2,85% (38/1334) de los nacidos vivos (NV) y de los óbitos fetales respectivamente. Las prevalencias por 10.000 NV y OF fueron: 38,52 y 149,93 para cardiopatías congénitas; 3,6 y 7,5 para síndrome de Down; 2,1 y 127,4 para defectos del tubo neural. La edad materna avanzada fue el principal factor de riesgo de síndrome de Down. Los factores de riesgo observados en las tres anomalías seleccionadas fueron: prematurez, depresión neonatal y bajo peso al nacer. Conclusiones: las anomalías congénitas en general y las seleccionadas en este trabajo en particular, constituyen una causa relevante de morbimortalidad en el período neonatal e infantil, plausibles de prevención. El diagnóstico temprano es fundamental para planificar servicios de salud especializados. Los resultados aquí presentados se pueden utilizar como línea de base para medir el impacto de las acciones de salud a nivel nacional.

Introduction: congenital anomalies (CA) are a public health problem with an impact on childhood, infant mortality (IM) and disability. In Uruguay, as well as in other developed countries, CA and prematurity are the main causes of IM. Objectives: analyze the most frequent anomalies in the country in 2011-2014 and evaluate risk factors. Material and methods: the data were obtained from the National Record of Congenital Defects and Rare Diseases and health statistics from the Ministry of Public Health. Results: it was determined that practically half of the cases were: congenital heart disease, Down syndrome and Neural Tube Defects (anencephaly, encephalocele and myelomeningocele), accounting for 0.42% (812/191,820) and 2.85% (38/1334) of live births and stillbirths respectively. The prevalence per 10,000 NV and stillbirths were: 38.52 and 149.93 for Congenital Heart Disease; 3.6 and 7.5 for Down Syndrome; 2.1 and 127.4 for neural tube defects. Advanced maternal age was the main risk factor for Down syndrome. The risk factors observed in the three selected anomalies were: prematurity, neonatal depression and low birth weight. Conclusions: congenital anomalies in general, and those selected in this study in particular, are a relevant cause of morbidity and mortality in newborns and infants, likely to be prevented. Early diagnosis is essential for planning specialized health services. The results presented in the present paper can be used as a baseline to measure the impact of health actions at national level.

Introdução: as anomalias congênitas (AC) são um problema de saúde pública com impacto na infância, na mortalidade infantil (MI) e na deficiência. No Uruguai, assim como em outros países desenvolvidos as AC e prematuridade são as principais causas de MI. Objetivos: analisar as anomalias mais frequentes no país, entre 2011-2014 e avaliar os fatores de risco. Material e métodos: os dados foram obtidos do Registro Nacional de Defeitos Congênitos e Doenças Raras e estatísticas vitais do Ministério da Saúde Pública. Resultados: determinou-se que praticamente a metade dos casos eram: cardiopatias congênitas, Síndrome de Down e Defeitos do tubo neural (anencefalia, encefalocele e mielomeningocele), representando 0,42% (812/191.820) e 2,85% (38/1334) de nascidos vivos-NV e natimortos, respectivamente. As prevalências por 10.000 NV e natimortos foram: 38,52 e 149,93 para Cardiopatia Congênita; 3,6 e 7,5 para Síndrome de Down; 2,1 e 127,4 para defeitos do tubo neural. A idade materna avançada foi o principal fator de risco para a síndrome de Down. Os fatores de risco observados nas três anomalias selecionadas foram: prematuridade, depressão neonatal e baixo peso ao nascer. Conclusões: as anomalias congênitas em geral e as selecionadas neste estudo em particular, constituem causa relevante de morbimortalidade no período neonatal e infantil, possível de ser prevenida. O diagnóstico precoce é fundamental para o planejamento de serviços de saúde especializados. Os resultados aqui apresentados podem ser usados como base para medir o impacto das ações de saúde realizadas a nível nacional.

Influencia del equilibrio en la calidad de vida de las personas con síndrome de Down en edad escolar y adulta: Revisión bibliográfica / Influence of Balance on the Quality of Life of People with Down Syndrome in School and Adult Ages: A Literature Review

Resumen El objetivo del presente estudio fue realizar una revisión de la bibliografía, estructurada en torno a la influencia del equilibrio en la calidad de vida de las personas con síndrome de Down en edad escolar y adulta. Para la búsqueda, se introdujo en las bases de datos WOS, Scopus y SPORTDiscus las palabras clave "Down Syndrome", "Balance" y "Quality of life". Para ello, se ha seguido la propuesta de revisión literaria de Gamonales, Muñoz-Jiménez, León & Ibáñez (2018), con cuatro criterios de inclusión: i) Mencionar la influencia del equilibrio en la CDV de las personas con SD (mínimo 20 palabras), ii) Seleccionar exclusivamente artículos científicos, iii) Tener acceso al texto completo o Resumen, y iv) Estar escrito en inglés, portugués o español. Los documentos revisados sobre la influencia del equilibrio en personas con síndrome de Down abordan tópicos de investigación diferentes. De los treinta y siete artículos localizados en la primera búsqueda, siete de ellos cumplen con los criterios de inclusión. Los textos científicos revisados muestran que la práctica de ejercicio físico específico produce mejoras en el equilibrio y en la calidad de vida de las personas con síndrome de Down, lo que permite establecer recomendaciones básicas de actividad física para este colectivo.

Abstract The study aims to conduct a bibliographic and structured review based on the results found around the influence of balance on the quality of life of people with Down Syndrome (DS) in school and adult ages. For references searching, the following keywords were used as descriptors: "Down Syndrome," "Balance," and "Quality of life". The words were always introduced in English and computerized databases; SCOPUS, WOS, and SPORTDiscus were used. Four inclusion criteria were introduced to limit the search: i) mentioning the influence of balance on the QOL of people with DS, ii) taking exclusively into consideration scientific articles, iii) having access to the full text or abstract, and iv) being written in English, Portuguese, or Spanish. In conclusion, the documents about the influence of balance in people with Down Syndrome address different research topics. Of the thirty-four articles located in the first search, seven of them meet the inclusion criteria. The reviewed scientific literature shows that the practice of physical exercise and specific training produce improvements in balance and the quality of life of people with Down syndrome, which allows establishing the recommendation to specifically train balance during physical activity sessions since there is evidence of positive effects for this group.

Resumo O objetivo do presente estudo foi realizar uma revisão bibliográfica, estruturada sobre a influência do equilíbrio na qualidade de vida das pessoas com síndrome de Down na idade escolar e adulta. Para a pesquisa, as palavras-chave "Down Syndrome," "Balance," e " Quality of life " foram introduzidas nas bases de dados WOS, Scopus e SPORTDiscus. Foi seguida a proposta de revisão de literatura de Gamonales, Muñoz-Jiménez, León & Ibáñez (2018), com quatro critérios de inclusão: i) Mencionar a influência do equilíbrio na CDV das pessoas com SD (mínimo 20 palavras), ii) Selecionar exclusivamente artigos científicos, iii) Ter acesso ao texto completo ou resumo, e iiii) Ser escrito em inglês, português ou espanhol. Os artigos analisados sobre a influência do equilíbrio nas pessoas com síndrome de Down abordam diferentes tópicos de pesquisa. Dos trinta e sete artigos localizados na primeira busca, sete deles atendem aos critérios de inclusão. Os textos científicos analisados mostram que a prática de exercício físico específico produz melhorias no equilíbrio e na qualidade de vida das pessoas com síndrome de Down, o que permite estabelecer recomendações básicas de atividade física para este grupo.