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.

Enhancing Speech Rehabilitation in a Young Adult with Trisomy 21: Integrating Transcranial Direct Current Stimulation (tDCS) with Rapid Syllable Transition Training for Apraxia of Speech.

Apraxia of speech is a persistent speech motor disorder that affects speech intelligibility. Studies on speech motor disorders with transcranial Direct Current Stimulation (tDCS) have been mostly directed toward examining post-stroke aphasia. Only a few tDCS studies have focused on apraxia of speech or childhood apraxia of speech (CAS), and no study has investigated individuals with CAS and Trisomy 21 (T21, Down syndrome). This N-of-1 randomized trial examined the effects of tDCS combined with a motor learning task in developmental apraxia of speech co-existing with T21 (ReBEC RBR-5435x9). The accuracy of speech sound production of nonsense words (NSWs) during Rapid Syllable Transition Training (ReST) over 10 sessions of anodal tDCS (1.5 mA, 25 cm) over Broca's area with the cathode over the contralateral region was compared to 10 sessions of sham-tDCS and four control sessions in a 20-year-old male individual with T21 presenting moderate-severe childhood apraxia of speech (CAS). The accuracy for NSW production progressively improved (gain of 40%) under tDCS (sham-tDCS and control sessions showed < 20% gain). A decrease in speech severity from moderate-severe to mild-moderate indicated transfer effects in speech production. Speech accuracy under tDCS was correlated with Wernicke's area activation (P3 current source density), which in turn was correlated with the activation of the left supramarginal gyrus and the Sylvian parietal-temporal junction. Repetitive bihemispheric tDCS paired with ReST may have facilitated speech sound acquisition in a young adult with T21 and CAS, possibly through activating brain regions required for phonological working memory.

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.

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.

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

ABSTRACT 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/).

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.

Cirugía plástica facial en niños con síndrome de Down / Facial Plastic Surgery in Children with Down Syndrome

Introducción: El síndrome de Down comprende diversos grados de retraso mental y un número de rasgos característicos en su facies. Debido a que estos pacientes presentan problemas en la vida social, laboral y educacional se han buscado soluciones que hagan de estos niños, individuos socialmente útiles. Este artículo muestra los resultados obtenidos en 22 pacientes con este síndrome que fueron tratados quirúrgicamente para corregir sus estigmas faciales. Objetivo: Demostrar los cambios funcionales y ventajas estéticas que se obtienen con la cirugía plástica facial en el paciente con síndrome de Down. Métodos: Se escogieron 22 pacientes con síndrome de Down de 3 a 14 años de edad en el período comprendido de 1986 a enero 2019. Se incluyeron los 15 primeros casos atendidos en el Hospital Pediátrico Docente William Soler en el Servicio de Cirugía Plástica y posteriormente en otros centros nacionales de salud. Los procederes quirúrgicos realizados para la corrección de los estigmas faciales fueron: glosectomía parcial, cantoplastia lateral, cantoplastia media y otoplastia. Resultados: Los cambios estéticos y funcionales fueron favorables, lo que mejoró la apariencia y eliminó los rasgos no atractivos. Se obtuvieron cambios positivos en el lenguaje y la respiración. La glosectomía y cantoplastia se realizó en el 100 por ciento de los casos. Conclusiones: Todos los pacientes operados atenuaron sus estigmas faciales, mientras que se reportaron beneficios respiratorios y mejoría en la esfera del lenguaje. El grado de satisfacción de los padres fue bueno(AU)

Introduction: Down syndrome comprises varying degrees of mental retardation and a number of characteristic facial features. Because these patients present problems in their social, occupational and educational life, solutions have been sought to make these children socially useful individuals. This work shows the results obtained in 22 patients with this syndrome who were surgically treated to correct their facial stigmata. Objective: To show the functional changes and aesthetic advantages obtained with facial plastic surgery in patients with Down syndrome. Methods: A number of 22 patients with Down syndrome aged 3 to 14 years were chosen, in the period from 1986 to January 2019. The first 15 cases attended in the plastic surgery service of Hospital Pediátrico Docente William Soler were included; later, others attended in other national health centers. The surgical procedures performed for the correction of facial stigmata were partial glossectomy, lateral canthoplasty, medial canthoplasty, and otoplasty. Results: Aesthetic and functional changes were favorable, improving appearance and eliminating unattractive features. Positive changes in speech and breathing were obtained. Glossectomy and otoplasty were performed in 100 percent of cases. Conclusions: All operated-on patients attenuated their facial stigmata, while respiratory benefits and speech improvement were reported. The degree of satisfaction of their parents was good(AU)

Generation of Urine-Derived Induced Pluripotent Stem Cells and Cerebral Organoids for Modeling Down Syndrome.

Down syndrome (DS, or trisomy 21, T21), is the most common genetic cause of intellectual disability. Alterations in the complex process of cerebral cortex development contribute to the neurological deficits in DS, although the underlying molecular and cellular mechanisms are not completely understood. Human cerebral organoids (COs) derived from three-dimensional (3D) cultures of induced pluripotent stem cells (iPSCs) provide a new avenue for gaining a better understanding of DS neuropathology. In this study, we aimed to generate iPSCs from individuals with DS (T21-iPSCs) and euploid controls using urine-derived cells, which can be easily and noninvasively obtained from most individuals, and examine their ability to differentiate into neurons and astrocytes grown in monolayer cultures, as well as into 3D COs. We employed nonintegrating episomal vectors to generate urine-derived iPSC lines, and a simple-to-use system to produce COs with forebrain identity. We observed that both T21 and control urine-derived iPSC lines successfully differentiate into neurons and astrocytes in monolayer, as well as into COs that recapitulate early features of human cortical development, including organization of neural progenitor zones, programmed differentiation of excitatory and inhibitory neurons, and upper-and deep-layer cortical neurons as well as astrocytes. Our findings demonstrate for the first time the suitability of using urine-derived iPSC lines to produce COs for modeling DS.

Diagnóstico prenatal de enfermedad de canal atrio-ventricular, análisis epidemiológico y experiencia CERPO entre 2003 y 2021 / Prenatal diagnosis of atrio-ventricular canal disease, epidemiological analysis and CERPO experience between 2003 and 2021

Antecedentes: En Chile, la mitad de los casos de mortalidad perinatal son atribuibles a anomalías congénitas, y un tercio de estas corresponde a cardiopatías congénitas. Aproximadamente un 35% de estos últimos requerirán cirugía antes del año de vida, por lo que la pesquisa prenatal impacta profundamente en el pronóstico. Objetivo: Dar a conocer los resultados perinatales de pacientes con diagnóstico prenatal de canal atrio-ventricular controlados en el Centro de Referencia Perinatal Oriente (CERPO) entre los años 2003 y 2021, su asociación a otras anomalías, características demográficas y pronóstico a un año. Métodos: En este estudio se puede apreciar que tanto el pronóstico como el plan terapéutico posnatal dependerán de la presencia de otras alteraciones morfológicas y del estudio genético. De los factores estudiados, se puede concluir que tanto la presencia de anomalías cardiacas asociadas, como el grado de insuficiencia valvular y el tipo de canal no son predictores de la sobrevida perinatal. Conclusiones: Finalmente, en relación con la sobrevida posnatal, en este estudio, la sobrevida a un año de los recién nacidos vivos fue de un 52%, pero al desglosarlo en los niños con cariotipo euploide y trisomía 21, estos valores se tornan muy distintos, 44 y 81% respectivamente.

Background: In Chile, half of the perinatal mortality cases are attributable to congenital anomalies, and one third of these correspond to congenital heart disease. Approximately 35% of the later will require surgery before one year of life, so prenatal screening has a profound impact on the prognosis. Objective: To present the perinatal results of patients with a prenatal diagnosis of atrio-ventricular canal controlled at Centro de Referencia Perinatal Oriente CERPO) between 2003 and 2021, its association with other anomalies, demographic characteristics, and 1-year prognosis. Methods: In this study it can be seen that both the prognosis and the postnatal therapeutic plan will depend on the presence of other morphological alterations and the genetic study. From the factors studied, it can be concluded that the presence of associated cardiac anomalies, the degree of valvular insufficiency, and the type of canal are not predictors of perinatal survival. Conclusions: Finally, in relation to postnatal survival, in this study, the 1-year survival of live newborns was 52%, but when broken down into children with euploid karyotype and trisomy 21, these values become very different, 44 and 81% respectively.

A Retrospective Cohort Study of Combined Therapy in West Syndrome associated with Trisomy 21.

Background: West syndrome (WS) is a frequent epileptic encephalopathy associated with Down syndrome (DS). This study evaluated an outpatient protocol for WS in patients with DS who received vigabatrin (VGB) or VGB plus adrenocorticotrophic hormone. Methods: We analyzed infants treated in two neuropediatric centers from 2001-2021. We reviewed perinatal and familial history of epilepsy, spasm onset, treatment lag, electroencephalogram, neuroimaging, progression to epilepsy, and other neurological conditions. The outcomes were electroclinical resolution (ECR), relapses, and epilepsy progression. Results: Nineteen infants were included; 57.8% were male. The average spasm onset, follow-up, and treatment lag were 6.4 months, 8.15 years, and 2.33 months, respectively. Almost 74% had ECR after protocol intervention and minor epilepsy progression. Relapses occurred during combined therapy. Conclusions: The treatment protocol, especially combined therapy, was effective for WS in DS, impacting epilepsy progression and indicating the effectiveness of combined therapy to treat WS in patients with trisomy 21.

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Pharmacological Approaches to the Treatment of Dementia in Down Syndrome: A Systematic Review of Randomized Clinical Studies.

Down Syndrome (DS) is considered the most frequent form of Intellectual Disability, with important expressions of cognitive decline and early dementia. Studies on potential treatments for dementia in this population are still scarce. Thus, the current review aims to synthesize the different pharmacological approaches that already exist in the literature, which focus on improving the set of symptoms related to dementia in people with DS. A total of six studies were included, evaluating the application of supplemental antioxidant therapies, such as alpha-tocopherol; the use of acetylcholinesterase inhibitor drugs, such as donepezil; N-methyl-d-aspartate (NMDA) receptor antagonists, such as memantine; and the use of vitamin E and a fast-acting intranasal insulin. Two studies observed important positive changes related to some general functions in people with DS (referring to donepezil). In the majority of studies, the use of pharmacological therapies did not lead to improvement in the set of symptoms related to dementia, such as memory and general functionality, in the population with DS.

Differential microRNA expression profile in blood of children with Down syndrome suggests a role in immunological dysfunction.

Down syndrome (DS), caused by trisomy of chromosome 21 (HSA21), results in a broad range of phenotypes. However, the determinants contributing to the complex and variable phenotypic expression of DS are still not fully known. Changes in microRNAs (miRNAs), short non-coding RNA molecules that regulate gene expression post-transcriptionally, have been associated with some DS phenotypes. Here, we investigated the genome-wide mature miRNA expression profile in peripheral blood mononuclear cells (PBMCs) of children with DS and controls and identified biological processes and pathways relevant to the DS pathogenesis. The expression of 754 mature miRNAs was profiled in PBMCs from six children with DS and six controls by RT-qPCR using TaqMan® Array Human MicroRNA Cards. Functions and signaling pathways analyses were performed using DIANA-miRPath v.3 and DIANA-microT-CDS software. Children with DS presented six differentially expressed miRNAs (DEmiRs): four overexpressed (miR-378a-3p, miR-130b-5p, miR-942-5p, and miR-424-3p) and two downregulated (miR-452-5p and miR-668-3p). HSA21-derived miRNAs investigated were not found to be differentially expressed between the groups. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses showed potential target genes involved in biological processes and pathways pertinent to immune response, e.g., toll-like receptors (TLRs) signaling, Hippo, and transforming growth factor ß (TGF-ß) signaling pathways. These results suggest that altered miRNA expression could be contributing to the well-known immunological dysfunction observed in individuals with DS.

Trisomy 21 and Assisted Reproductive Technologies: A review.

Trisomy 21 is the most common genetic disorder seen among infants, and it causes spontaneous abortions, abnormal neural development and other pathologies associated with newborn development. In newborns with this trisomy, 90-95% have full trisomy, 1.4-1.9% have mosaicism, and 1-4.7% have translocations. The principal cause of trisomy 21 is advanced maternal age, in which recombination errors may occur during fetal development, age-related accumulation of damaged DNA, cohesin degradation producing the premature loss of chromosomes or sister chromatids, and alterations during the spindle formation process. The paternal age has also an effect on trisomy 21, specifically during male aging, when there is higher risk of chromosomal breaking in spermatozoa. Epigenetics is also an important risk factor of trisomy 21 through changes in the DNA methylation process, histone modification and non-coding RNAs. Assisted reproductive technologies (ART) have emerged in recent years as a safe alternative for couples with fertility problems. These techniques, which include controlled ovarian stimulation (COS), in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) and vitrification, decrease the incidence of aneuploidy in human preimplantation embryos, and are widely used. The following study aims to review and discuss the available literature on trisomy 21 in the field of assisted human reproduction.

Uso das placas palatinas de memória e terapia miofuncional em crianças com síndrome de Down: uma série de casos / Use of memory palate plate and orofacial myofunctional therapy in children with Down syndrome: a case series

A hipotonicidade muscular generalizada e a língua flácida e protruída são umas das principais manifestações orofaciais da síndrome de Down. A placa palatina de memória associada à terapia miofuncional orofacial estimulam os movimentos e a percepção das áreas motoras da face das crianças com hipotonia muscular e previnem o desenvolvimento de patologias secundárias como a respiração oral, más oclusões, distúrbios de deglutição, sucção e fonação. Na literatura existem poucos estudos recentes publicados abordando essa terapêutica, tornando-se necessário aprofundar no assunto e realizar mais pesquisas para comprovações científicas dos resultados e criação de protocolos embasados. O objetivo do presente trabalho é descrever três casos clínicos de crianças com síndrome de Down, desenvolvidos em um projeto de extensão multidisciplinar na Faculdade de Odontologia da Universidade Federal de Minas Gerais, e apresentar os resultados obtidos após terapia miofuncional orofacial associada à placa palatina de memória. Todos os casos apresentaram resultados positivos, sendo observado principalmente melhora na postura habitual da língua, com uma posição mais retraída na cavidade oral e melhora no selamento labial. Apesar dos achados positivos, não é possível generalizá-los, pois foram avaliados apenas três casos. Além disso, as avaliações foram perceptuais e subjetivas sem métodos definidos. Outra limitação foi a pandemia de Covid-19 que impediu o acompanhamento sistemático dos pacientes e o uso da placa acabou sendo descontinuado. São necessários mais estudos longitudinais com amostras maiores, com métodos padronizados e objetivos de avaliação bem definidos para verificar os benefícios em longo prazo.

The generalized muscle hypotonicity and a flaccid and protruding tongue are the main orofacial manifestations of Down syndrome. The memory palate plate associated with orofacial myofunctional therapy stimulate movements and the perception of the motor areas of the face of children with muscle hypotonia, precluding the development of secondary conditions, such as mouth breathing and malocclusions as well as swallowing, sucking, and phonation disorders. In the literature, there are few recent studies addressing this therapy, making scientific research on this topic necessary, aiming to develop consolidated protocols. The objective of the present study was two-fold: to describe three clinical cases of children with Down syndrome, who attended a multidisciplinary project at the Faculty of Dentistry of the Federal University of Minas Gerais and to present the results obtained after orofacial myofunctional therapy associated with the wearing of memory palate plate. All cases showed positive results, with an improvement in the posture of the tongue. A more retracted position of the tongue into the oral cavity and improvement of lip sealing were also observed. Even though treatment results were positive, generalization of the outcomes is unfeasible, as only three cases were evaluated. In addition, the assessments were based on the assessor`s perceptions without the deployment of more objective methods. Another limitation was the Covid- 19 pandemic, which precluded the systematic follow-up of the patients and the continued wearing of the plate on the part of the children. More longitudinal studies with larger samples, standardized methods, and a well-defined evaluation of objectives to verify the long-term benefits of the therapy are encouraged.

Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association.

Trisomy 21 is considered the most common chromosomal aneuploidy, and congenital heart disease (CHD) is highly prevalent and relevant to the morbidity and mortality of these patients. Ebstein anomaly (EA) is a rare CHD characterized by tricuspid valve dysplasia with inferior septal leaflet displacement. Herein, we described a patient with trisomy 21 who presented with EA and discuss the association between the two conditions based on a literature review. We conclude that the concomitant occurrence of both conditions is considered to be rare. These individuals are most frequently diagnosed during birth and childhood, and they usually have a good prognosis, as observed with our patient and is typical for EA patients in general. However, it is important to be aware that electrophysiologic anomalies may also be present.

Falsos positivos del cribado de trisomía 21 y 18 del primer trimestre y complicaciones obstétricas / Adverse outcomes in pregnancies with false positive trisomy 21 and 18 screening results

OBJETIVO: Analizar si los casos positivos de cribado combinado de trisomía 21 (t21) o trisomía 18 (t18) en ausencia de aneuploidía (falsos positivos- FP) se relacionan con complicaciones de la gestación, ajustando por factores demográficos y clínicos de riesgo. MATERIAL Y MÉTODOS: Estudio retrospectivo de casos y controles anidado en una cohorte de pacientes que acudieron para cribado del primer trimestre. Los casos fueron las pacientes con FP de riesgo combinado de t21 superior a 1/270 o riesgo de t18 superior a 1/100. Se consideraron complicaciones de la gestación: óbito fetal, parto prematuro menor de 34 semanas o prematuro menor de 37 semanas, preeclampsia, retrasos de crecimiento, pequeño para la edad gestacional (CIR, PEG) y diabetes gestacional (DG). Se ajustó por obesidad, edad, paridad, tabaquismo, y técnicas de reproducción asistida. RESULTADO: Se obtuvieron 204 casos de FP, 149 FP para trisomía 21, 41 para trisomía 18, y 14 FP para ambos riesgos. Se encontró asociación estadísticamente significativa de FP t21 con óbito fetal (OR=3,5; ic95% 1,4-8,7; p=0,01), parto prematuro menor de 37 semanas (OR=2,2; IC95% 1,4-3,4; p=0,001), preeclampsia (OR =2,6; IC95% 1,17-6,1; p=0,02), PEG (OR =2,2; IC95% 1,2-4,1; p=0,02), CIR (OR=2,8; IC95% 1,6-5,1; p=0,001), y DG (OR=2,1; IC95% 1,2-3,7; p=0,01). Los FP t18 se asociaron con óbito (OR=8,9; IC95% 2,9-27; p=0,002). CONCLUSIÓN: Los FP del cribado del primer trimestre, para trisomía 21 y trisomía 18, se asocian con resultados obstétricos adversos.

We have studied whether positive cases of combined trisomy 21 (t21) or 18 (t18) screening in the absence of aneuploidy (false positives -FP-) are related to pregnancy complications adjusting for demographic and clinical risk factors. METHODS: Retrospective case-control study nested in a cohort of patients who came for first trimester aneuploidy screening. The cases were patients with FP combined risk of t21 (greater than 1/270) or t18 risk (greater than 1/100). The control group was a sample of patients with low-risk screening. We considered pregnancy complications: stillbirth, premature delivery before 34 and 37 weeks, preeclampsia, growth retardation, small for gestational age (FGR, SGA), and gestational diabetes (GD). Or were adjusted for obesity, age, parity, smoking, and assisted reproduction techniques. RESULTS: 204 cases of FP were obtained, 149 FP for trisomy 21, 41 for trisomy 18, and 14 FP for both risks. A statistically significant association between t21 FP was found with stillbirth (OR = 3.5; 95% CI 1.4-8.7; p = 0.01), preterm delivery less than 37 weeks (OR = 2.2; 95% CI 1.4-3.4; p = 0.001), preeclampsia (OR = 2.6; 95% CI 1.17-6.1; p = 0.02), SGA (OR = 2.2; 95% CI 1, 2-4.1; p = 0.02), FGR (OR = 2.8; 95% CI 1.6-5.1; p = 0.001), and GD (OR = 2.1; 95% CI 1.2 −3.7; p = 0.01). FP t18s were associated with fetal loss (OR= 8.9 (95% CI 2.9-27) p = 0.002. CONCLUSION: FP from first trimester screening for t21 and t18 are associated with adverse obstetric outcomes.

Evaluation of the craniofacial and oral characteristics of individuals with Down syndrome: A review of the literature.

The aim of this investigation was to describe the craniofacial and oral characteristics of children and/or adolescents with and without Down syndrome (DS). A bibliographic search of the Medline database (via PubMed), Scopus and SCIELO was performed using the keywords "craniofacial characteristics", "dental characteristics" and "Down syndrome". Systematic reviews, observational cross-sectional and longitudinal studies were included. On the contrary, case reports, letters to the editor, editorials and opinion articles were excluded. 251 articles were recovered, and only 30 fulfilled the selection criteria. DS patients were characterized by reduced dimensions of the maxillary bone, mandible, and skull base, compared to normal patients. Likewise, some of these abnormalities influenced more frequent presentation of a class III malocclusion in these patients. On the other hand, this population group showed a higher prevalence of periodontal diseases, less risk of dental caries, and the presence of alterations in the tongue, lips, dental development and palate morphology. The quality of life of these individuals is affected by difficulties in swallowing, talking, eating or breathing through the nose. In conclusion, the craniofacial and oral characteristics of DS patients present various alterations compared to healthy patients, and these alterations have a negative impact on their quality of life.

Trisomy 21 and Coronavirus Disease 2019 in Pediatric Patients.

We present 4 pediatric patients with trisomy 21 (T21) and associated comorbidities who developed coronavirus disease 2019 requiring hospitalization. A review of the literature revealed that comorbidities associated with T21 may predispose patients to severe disease. Children with T21 should be considered high risk and monitored carefully if infected with severe acute respiratory syndrome coronavirus 2.

Síndrome de Down e patologias associadas: uma revisão narrativa da literatura / Down syndrome and associated pathologies: a narrative review of the literature / Síndrome de Down y patologías asociadas: una revisión narrativa de la literatura

Objetivo: identificar por meio de uma revisão narrativa de literatura as patologias mais recorrentes em indivíduos com Síndrome de Down. Método: trata-se de uma revisão narrativa. Realizou-se um levantamento da literatura no Portal Pubmed e nas bases de dados de publicações científicas indexadas: Scientific Eletronic Library Online (Scielo), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Base de Dados de Enfermagem (BDENF) e Cumulative Index to Nursing and Allied Health Literature (CINAHL) e Portal PubMed, usando os descritores "Down's syndrome", "Pathologies", "Trisomy 21", "Intellectual Disability", "Clinical manifestations". Resultados: foram encontrados 696 artigos, dos quais 24 foram analisados na íntegra, destes, foram selecionados 9 artigos que compuseram a amostra desta revisão. A maioria dos estudos selecionados mensurou as características fenotípicas peculiares nos indivíduos com essa anomalia, a saber: olhos oblíquos, orelhas baixas, braquidactilia, hipotonia, baixa estatura, braquicefalia, fissuras oblíquas na pálpebra, epicanto, manchas de Brushfield na íris, dentre outras. Conclusão: torna-se necessária uma atenção e acompanhamento regular dos profissionais de saúde acerca das patologias malignas, doenças autoimunes e inflamatórias que acometem as pessoas com SD.

Objective: to identify through a narrative literature review the most recurrent pathologies in individuals with Down syndrome. Method: this is a narrative review. A survey of literature was conducted on the Pubmed Portal and in the databases of indexed scientific publications: Scientific Electronic Library Online (Scielo), Latin American and Caribbean Literature on Health Sciences (LILACS), Nursing Database (BDENF) and Cumulative Index to Nursing and Allied Health Literature (CINAHL) and PubMed Portal, using the descriptors "Down's syndrome", "Pathologies", "Trisomy 21", "Intellectual Disability" , "Clinical manifestations". Results: 696 articles were found, of which 24 were fully analyzed, of which 9 articles were selected that comprised the sample of this review. Most of the selected studies measured the peculiar phenotypic characteristics in individuals with this anomaly, namely: oblique eyes, low ears, brachydactyly, hypotonia, short stature, brachycephaly, oblique clefts in the eyelid, epicant, Brushfield spots on the iris, among others. Conclusion: it is necessary to have regular attention and follow-up of health professionals about malignant pathologies, autoimmune and inflammatory diseases that affect people with DS.

Objetivo: identificar a través de una literatura narrativa revisar las patologías más recurrentes en individuos con síndrome de Down. Método: esta es una revisión narrativa. Una encuesta de literatura se realizó en el Portal Pubmed y en las bases de datos de publicaciones científicas indexadas: Biblioteca Electrónica Científica en Línea (Scielo), Literatura Latinoamericana y del Caribe en Ciencias de la Salud (LILACS), Base de Datos de Enfermería (BDENF) e Índice Acumulativo de Literatura de Enfermería y Salud Aliada (CINAHL) y PubMed Portal, utilizando los descriptores "Síndrome de Down", "Patologías", "Trisomy 21", "Discapacidad Intelectual" , "Manifestaciones clínicas". Resultados: se encontraron 696 artículos, de los cuales 24 fueron analizados en su totalidad, de los cuales se seleccionaron 9 artículos que comprendían la muestra de este examen. La mayoría de los estudios seleccionados midieron las peculiares características fenotípicas en individuos con esta anomalía, a saber: ojos oblicuos, orejas bajas, braquidactilia, hipotonía, estatura baja, braquicefalia, hendiduras oblicuas en el párpado, epicante, manchas de Brushfield en el iris, entre otros. Conclusión: es necesario tener atención regular y seguimiento de los profesionales de la salud sobre patologías malignas, enfermedades autoinmunes e inflamatorias que afectan a las personas con DS.