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.

Different immunological patterns of Down syndrome patients with and without recurrent infections.

OBJECTIVE: Individuals with Down Syndrome (DS) exhibit a higher susceptibility to infections, suggesting potential immunological alterations within this population. Consequently, this study aims to assess the immune response profile in children with DS to identify potential immune dysfunctions associated with recurrent infections. METHODS: The authors conducted a retrospective analysis involving 49 DS patients, examining various epidemiological, clinical, cytogenetic, and laboratory variables. The study's sample comprised patients aged 2-20 years, with a predominance of males. These patients were categorized into two groups based on the presence or absence of recurrent infections, as indicated by the Jeffrey Modell Foundation alert signs. RESULTS: Immunoglobulin (Ig) A, G, and M levels were deemed normal, although individuals with DS experiencing recurrent infections exhibited significantly lower IgA levels. Additionally, CD3, CD4, CD8, and CD19 lymphocyte counts were found to be within normal ranges, with no significant differences between the two groups. While overall data indicated normal seroconversion levels of pneumococcal polysaccharide antibodies, a notable impairment in seroconversion was observed among DS patients with recurrent infections compared to those without such infections. CONCLUSION: The deficiency of anti-polysaccharide antibodies in individuals with DS may constitute an important immunological comorbidity. Therefore, it warrants further investigation, particularly among individuals with recurrent infections.

ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics. / Síndrome ABCD, una causa infrecuente de hipercalcemia en pediatría.

ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date. Although it is a rare cause of pediatric hypercalcemia, it should be considered in children with Down syndrome once other more common etiologies have been ruled out. Once this diagnosis is confirmed, the recommended treatment is to reduce dietary calcium intake and work with an interdisciplinary team to maintain an adequate calorie and protein intake.

El síndrome ABCD (por sus siglas en inglés, ABnormal Calcium, Calcinosis and Creatinine in Down syndrome) se caracteriza por la asociación de hipercalcemia, hipercalciuria, nefrocalcinosis y alteración de la función renal en pacientes con síndrome de Down. Existen solo 7 casos previamente publicados en el mundo, aunque se cree que está subdiagnosticado. En este reporte, presentamos 2 nuevos pacientes con este síndrome y realizamos una comparación con los casos informados hasta el momento. Si bien es una causa rara de hipercalcemia pediátrica, debe considerarse en niños con síndrome de Down una vez descartadas otras etiologías más frecuentes. Al confirmarse este diagnóstico, el tratamiento recomendado es la reducción de calcio en la dieta, trabajando de manera interdisciplinaria para mantener un aporte calórico proteico adecuado.

Compromiso inmunológico en pacientes con síndrome de Down. Serie de casos / Immune compromise in patients with Down syndrome. A case series

El síndrome de Down, o trisomía 21, tiene una mortalidad mayor que la población general, debido principalmente a infecciones respiratorias. El objetivo de este trabajo es describir el compromiso inmunológico en una serie de casos de pacientes con síndrome de Down derivados a Inmunología por infecciones recurrentes o por hallazgo patológico de laboratorio, entre el 1 de junio de 2016 y el 31 de mayo de 2022. Se describe el compromiso de la inmunidad en 24 pacientes. Doce pacientes presentaron falla de respuesta a polisacáridos y recibieron quimioprofilaxis antibiótica y/o gammaglobulina sustitutiva. En 3 pacientes, se observó agammaglobulinemia con linfocitos B presentes y se indicó gammaglobulina sustitutiva. En 9 pacientes, se observó linfopenia T y en 1 paciente, compromiso inmune combinado.

Down syndrome, or trisomy 21, has a higher mortality than the general population, mainly due to respiratory tract infections. The objective of this study was to describe immune compromise in a series of cases of patients with Down syndrome referred to the Pediatric Immunology Section due to recurrent infections or pathological laboratory findings between 6/1/2016 and 5/31/2022. Here we describe immune compromise in 24 patients. Twelve patients failed to develop a polysaccharide response and received antibiotic chemoprophylaxis, or gamma globulin replacement therapy. Three patientsdeveloped agammaglobulinemia with presence of B cells and gamma globulin replacement therapy was indicated. Nine patients had T-cell lymphopenia and 1 patient, combined immune compromise.

Orofacial myofunctional and polysomnographic characteristics of children with Down syndrome and obstructive sleep apnea: a pilot study. / Características miofuncionais orofaciais e polissonográficas de crianças com Síndrome de Down e apneia obstrutiva do sono: estudo piloto.

PURPOSE: To investigate oropharyngeal structures and functions in a pediatric population with Down Syndrome (DS) and obstructive sleep apnea (OSA) and to correlate with the apnea/hypopnea index (AHI) and sleep questionnaires. METHODS: 12 Children with DS and OSA, between the age of 4 and 12 years old, underwent polysomnography (PSG); sleep questionnaires, Pediatric Sleep Questionnaire (PSQ) and Obstructive Sleep Apnea-18 (OSA-18); and speech-language evaluation using the Short Evaluation of Orofacial Myofunctional Protocol (ShOM). RESULTS: There was a positive correlation between ShoM higher scores and the apnea-hypopnea index (AHI) and between ShoM and the number of hypopneas. The orofacial myofunctional alterations observed in the studied group were: oral breathing, alteration in lip tonus and competence, tongue posture at rest and in swallowing, and occlusal alteration. There was also an increased risk for OSA according to the sleep questionnaires, as well as the presence of obesity and overweight, but without correlation with the severity of OSA. CONCLUSION: All DS children show alterations in orofacial characteristics, higher scores being associated to severe OSA. Orofacial myofunctional evaluation may help to identify different phenotypes in Down syndrome children with Obstructive sleep Apnea, enhancing the need for a multidisciplinary approach.

OBJETIVO: Investigar as estruturas e funções orofaríngeas de uma população pediátrica com Síndrome de Down (SD) e apneia obstrutiva do sono (AOS) e correlacionar com o índice de apneia/hipopneia (IAH) e questionários do sono. MÉTODO: 12 Crianças com SD e AOS, entre 4 e 12 anos, foram submetidas à polissonografia (PSG); questionários do sono, Pediatric Sleep Questionnaire (PSQ) e Obstructive Sleep Apnea-18 (OSA-18); e triagem fonoaudiológica por meio do Short Evaluation of Orofacial Myofunctional Protocol (ShOM). RESULTADOS: Verificou-se uma correlação positiva entre pontuações mais elevadas no ShOM e o índice de apneia hipopneia (IAH) e entre o ShOM e número de hipopneias. As alterações miofuncionais orofaciais observadas no grupo estudado foram: respiração oral, alteração no tônus e competência labial, na postura de língua em repouso e na deglutição e alteração oclusal. Verificou-se também, um risco aumentado para AOS conforme os questionários do sono, bem como presença de obesidade e sobrepeso, mas sem correlação com a gravidade da AOS. CONCLUSÃO: Todas as crianças apresentaram alterações miofuncionais orofaciais, sendo que escores mais altos no ShOM, ou seja, um maior comprometimento miofuncional orofacial, estavam associados à maior gravidade de AOS, sugerindo que a avaliação miofuncional orofacial dentro de uma abordagem multidisciplinar pode auxiliar na identificação de fatores de risco para AOS em crianças com SD.

Fetal hemodynamics and placental histopathology in Down syndrome.

OBJECTIVE: To evaluate the association between Doppler patterns in fetuses with Down syndrome (DS) and their placental histopathologic findings. METHODS: A retrospective cross-sectional study was performed by collecting data from medical records of singleton pregnancies between January 2014 and January 2022, whose fetuses had a confirmed diagnosis of DS either prenatally or postnatally. Placental histopathology, maternal characteristics, and prenatal ultrasound (biometric parameters and umbilical artery [UA] Doppler) were evaluated. RESULTS: Of 69 eligible pregnant women, 61 met the inclusion and exclusion criteria. In the sample, 15 fetuses had an estimated fetal weight < 10th percentile for gestational age (GA) and were considered small for gestational age (SGA). Thirty-eight fetuses had increased resistance on the UA Doppler. Histologic changes were detected in 100% of the placentas, the most common being delayed villous maturation, alterations associated with poor fetal vascular perfusion, and villous dysmorphism. More than 50% of the placentas showed alterations related to placental insufficiency. We did not observe a statistically significant association between UA Doppler examination and placental alterations. All placentas analyzed in the SGA subgroup showed findings compatible with placental insufficiency. CONCLUSION: We found no statistically significant association between placental histopathologic findings and UA Doppler abnormalities in fetuses with DS. The placental alterations identified were delayed villous maturation, alterations associated with poor fetal vascular perfusion, and villous dysmorphism.

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.

Immune compromise in patients with Down syndrome. A case series. / Compromiso inmunológico en pacientes con síndrome de Down. Serie de casos.

Down syndrome, or trisomy 21, has a higher mortality than the general population, mainly due to respiratory tract infections. The objective of this study was to describe immune compromise in a series of cases of patients with Down syndrome referred to the Pediatric Immunology Section due to recurrent infections or pathological laboratory findings between 6/1/2016 and 5/31/2022. Here we describe immune compromise in 24 patients. Twelve patients failed to develop a polysaccharide response and received antibiotic chemoprophylaxis, or gamma globulin replacement therapy. Three patients developed agammaglobulinemia with presence of B cells and gamma globulin replacement therapy was indicated. Nine patients had T-cell lymphopenia and 1 patient, combined immune compromise.

El síndrome de Down, o trisomía 21, tiene una mortalidad mayor que la población general, debido principalmente a infecciones respiratorias. El objetivo de este trabajo es describir el compromiso inmunológico en una serie de casos de pacientes con síndrome de Down derivados a Inmunología por infecciones recurrentes o por hallazgo patológico de laboratorio, entre el 1 de junio de 2016 y el 31 de mayo de 2022. Se describe el compromiso de la inmunidad en 24 pacientes. Doce pacientes presentaron falla de respuesta a polisacáridos y recibieron quimioprofilaxis antibiótica y/o gammaglobulina sustitutiva. En 3 pacientes, se observó agammaglobulinemia con linfocitos B presentes y se indicó gammaglobulina sustitutiva. En 9 pacientes, se observó linfopenia T y en 1 paciente, compromiso inmune combinado.

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.

The Diagnostic Capacity of Physical Examinations in Diagnosing Musculoskeletal Disorders of the Lower Limbs in Children with Down Syndrome.

Background and Objectives: although musculoskeletal alterations are common in patients with Down syndrome (DS), studies investigating this association are scarce, and proposals for diagnostic standardization are limited. We aimed to evaluate the prevalence of musculoskeletal disorders in the lower limbs in a sample of children and adolescents with DS and to investigate the diagnostic capacity of orthopedic clinical examinations performed by orthopedists and pediatricians to diagnose these alterations. Materials and Methods: Twenty-two patients aged between three and ten years with DS were included. Patients and guardians answered a simple questionnaire regarding orthopedic complaints and underwent a systematic orthopedic physical examination, performed twice: once by an orthopedist and again by a pediatrician. Patients underwent a series of radiographs to diagnose anisomelia, hip dysplasia, epiphysiolysis, flatfoot valgus, mechanical axis varus, and mechanical axis valgus. The radiological diagnosis was considered the gold standard, and the diagnostic capacity of the physical examination performed by each physician was determined. Results: The median age was 6.50 years. Only four patients (18.2%) presented with orthopedic complaints. All patients were diagnosed with at least one musculoskeletal disorder. The only musculoskeletal disorder with a good diagnostic capacity was flatfoot valgus. Limited sensitivity values were found for hip dysplasia, mechanical axis varus, and mechanical axis valgus. The agreement between the orthopedic physical examinations performed by the two examiners was weak, poor, or indeterminate for most of the analyzed items. Conclusions: There was a high prevalence of orthopedic alterations in children with DS who did not present with musculoskeletal complaints. The diagnostic capacity of the physical examination was limited. Therefore, all children with DS should undergo a radiological evaluation of the musculoskeletal system and subsequent specialized orthopedic evaluation. Level of Evidence: Level II (Diagnostic Studies).

[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).

Enhancing understanding of SARS-CoV-2 infection among individuals with Down syndrome: An integrative review.

BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).

Calidad de vida relacionada con la salud en niños y niñas con síndrome de Down / Health-related quality of life in children with Down syndrome

Introducción. Los pacientes con síndrome de Down (SD) presentan características que pueden afectar su calidad de vida. El objetivo de este trabajo fue evaluar la calidad de vida relacionada con la salud (CVRS) en pacientes con síndrome de Down. Población y métodos. Se realizó un estudio de corte transversal para evaluar CVRS con el cuestionario PedsQL 4.0 a pacientes de 2 a 4 años con síndrome de Down y a pacientes sanos en 2020-2021 en un hospital universitario. Resultados. Se incluyeron 51 pacientes en cada grupo. El puntaje de CVRS en infantes con SD fue 82,1 vs. 88 (p = 0,003) comparado con población sin SD. La salud psicosocial fue la más afectada (p = 0,007), especialmente, en el funcionamiento social y el escolar (p = 0,0001). Conclusión. Se observó que los niños y niñas con SD de 2 a 4 años tuvieron menor CVRS. La escala de la salud psicosocial fue más afectada, especialmente, el funcionamiento social y el escolar.

Introduction. The characteristics of patients with Down syndrome (DS) may affect their quality of life. The objective of this study was to assess the health-related quality of life (HRQoL) in patients with DS. Population and methods. This was a cross-sectional study to assess the HRQoL with the PedsQL 4.0 questionnaire administered to patients with DS and healthy patients aged 2 to 4 years in 2020­2021 at a teaching hospital. Results. Each study group included 51 patients. The HRQoL score in children with DS was 82.1 compared to 88 (p = 0.003) in the population without DS. Psychosocial health was impacted the most (p = 0.007), especially in terms of social and school functioning (p = 0.0001). Conclusion. Children with DS aged 2 to 4 years were observed to have a lower HRQoL. The psychosocial health scale was affected the most, especially in terms of social and school functioning.

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.

Use of liposomal amphotericin B in disseminated cutaneous leishmaniasis caused by Leishmania braziliensis in a pediatric patient with Down syndrome. / Uso de anfotericina B liposomal en leishmaniasis cutánea diseminada causada por Leishmania braziliensis en un paciente pediátrico con síndrome de Down.

We present a case of disseminated cutaneous leishmaniasis with extensive manifestation in a pediatric patient with Down syndrome. The case was confirmed by parasitological and immunological tests. The species was identified as Leishmania (Viannia) braziliensis by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). The immune deficit that occurs as part of Down syndrome may have been the reason for the aggressive and prolonged clinical manifestations as well as the poor response to stibogluconate and deoxycholate amphotericin. The patient was treated with liposomal amphotericin B and at the end of therapy, showed clinical improvement of the lesions. This report highlights the challenges of the diagnosis and treatment of cutaneous leishmaniasis in immunosuppressed pediatric patients, especially under difficult social, economic and geographic conditions. Leishmaniasis should be considered as a differential diagnosis when treating atypical chronic dermatologic ulcers; the use of liposomal amphotericin in immunocompromised patients should also be considered in these cases.

Se presenta un caso de leishmaniasis selvática cutánea diseminada con manifestación extensa en una paciente pediátrica con síndrome de Down. El caso se confirmó a través de estudios parasitológicos e inmunológicos, mientras que la identificación se realizó mediante la técnica de reacción en cadena de la polimerasa-polimorfismos de longitud de fragmentos de restricción (PCR-RFLP, por sus siglas en inglés), determinándose la especie como Leishmania (Viannia) braziliensis. La manifestación clínica agresiva y prolongada con poca respuesta a estibogluconato y anfotericina desoxicolato pueden deberse al déficit inmunológico que se presenta como parte del síndrome de Down. La paciente eventualmente recibió tratamiento con anfotericina B liposomal y al término de la terapia, mostró mejoría clínica de las lesiones. El presente reporte ilustra los desafíos tanto de diagnóstico como tratamiento de leishmaniasis cutánea en pacientes pediátricos inmunosuprimidos, especialmente en un entorno de difícil acceso social, económico y geográfico, a los servicios de salud. Se recomienda considerar a la leishmaniasis en el diagnóstico diferencial cuando se atienda ulceras crónicas dermatológicas atípicas; así como tener en cuenta el uso de anfotericina liposomal en pacientes inmunocomprometidos.

Sleep assessment in adults with Down syndrome: correlation between functionality and polysomnographic findings.

BACKGROUND: Sleep disorders have a negative impact on health, being associated with neurocognitive problems, cardiovascular diseases and obesity, influencing children's development and learning. OBJECTIVE: To assess the sleep pattern of people with Down syndrome (DS) and correlate changes with functionality and behavior. METHODS: A cross-sectional study was conducted to evaluate the sleep pattern in adults with DS > 18 years old. Twenty-two participants were assessed using the Pittsburgh Sleep Quality Index, the Functional Independence Measure and the Strengths and Difficulties Questionnaire, and the 11 who presented indications of disorders by the screening questionnaires were referred to polysomnography. Statistical tests were performed using a significance level of 5%, including sample normality tests and correlation tests (sleep and functionality). RESULTS: Impairment in sleep architecture was found due to an increase in the rate of awakenings in 100% of the participants, a decrease in the number of slow waves, and a high prevalence of sleep disordered breathing (SDB), with higher averages in the Apnea and Hypopnea Index (AHI) in the group. There was a negative correlation between sleep quality and global functionality (p = 0.011) and the motor (p = 0.074), cognitive (p = 0.010), and personal care (p = 0.072) dimensions in the group. Global and hyperactivity behavior changes were related to worse sleep quality (p = 0.072; p = 0.015, respectively). CONCLUSION: There is an impairment in the sleep quality of adults with DS, with an increase in the rate of awakenings, a decrease in the number of slow waves, and a high prevalence of SDB affecting this population in the functional and behavioral aspects.

ANTECEDENTES: Os distúrbios de sono têm impacto negativo na saúde, estando associados a problemas neurocognitivos, doenças cardiovasculares e obesidade, influenciando no desenvolvimento e aprendizado. OBJETIVO: Avaliar o padrão de sono de pessoas com síndrome de Down (SD) e correlacionar as alterações com a funcionalidade e comportamento. MéTODOS: Foi realizado um estudo transversal para avaliação do padrão de sono em adultos com SD > 18 anos. Foram avaliados 22 participantes, através do Índice de Qualidade do Sono de Pittsburgh, da Medida de Independência Funcional e do Questionaário de Capacidades e Dificuldades. Os 11 participantes que apresentaram indicativos de presença de distúrbios pelos questionários de triagem foram indicados a polissonografia. Os testes estatísticos foram realizados com nível de significância de 5%, incluindo testes de normalidade e testes de correlação (sono e funcionalidade). RESULTADOS: Foi encontrado prejuízo na arquitetura de sono pelo aumento do índice de despertares em 100% dos participantes, diminuição na quantidade de ondas lentas, e alta prevalência de distúrbio respiratório do sono (DRS), com maiores médias nos Índices de Apneia e Hipopneia (IAH). Houve correlação negativa entre a qualidade de sono e a funcionalidade global (p = 0,011), e as dimensões motora (p = 0,074), cognitiva (p = 0,010) e cuidados pessoais (p = 0,072). As alterações de comportamento global e comportamentos de hiperatividade foram relacionados à pior qualidade do sono (p = 0,072; p = 0,015, respectivamente). CONCLUSãO: Existe prejuízo na qualidade de sono de adultos com SD, com aumento de índice de despertares, diminuição na quantidade de ondas lentas, e alta prevalência de DRS, afetando essa população nos aspectos funcionais e comportamentais.