Family history of thyroid disease and risk of congenital hypothyroidism in neonates with Down síndrome.

INTRODUCTION: Family history of thyroid disease (FHTD) constitutes a possible risk factor for congenital hypothyroidism (CH) in the general population; however, FHTD possible relationship with CH in subjects with Down syndrome (DS) has not yet been explored. OBJECTIVE: To determine whether FHTD is associated with an increased incidence of CH in neonates with DS. METHOD: Hospital-based case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and positive FHTD (cases) were compared with those of 183 newborns with DS without FHTD (control group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. RESULTS: Nine newborns with DS in our sample had CH (4.1 %). In the multivariate analysis, FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). CONCLUSIONS: Newborns with DS and FHTD have an eight-fold higher risk for CH, particularly when the index case is male. FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.

INTRODUCCIÓN: La historia familiar de enfermedad tiroidea (HFET) como factor de riesgo para hipotiroidismo congénito (HC), en síndrome de Down (SD) aún no ha sido explorada. OBJETIVO: Determinar si la HFET está asociada a mayor riesgo de HC en neonatos con SD. MÉTODO: Estudio de casos y controles en 220 neonatos con SD. Se compararon las pruebas de función tiroidea (PFT) de 37 con SD e HFET (casos), frente a las PFT de 183 recién nacidos con SD sin HFET (grupo de referencia). Se realizó análisis de regresión logística multivariante y se calculó la razón de momios (RM) y sus respectivos intervalos de confianza del 95 % (IC 95 %). RESULTADOS: Nueve casos HC (4.1 %). El HC mostró asociación con la HFET (RMa = 8.3, IC 95 %: 2.0-34.3), particularmente en los varones (RMa = 9.0, IC 95 %: 1.6-49.6). La ausencia de HFET tuvo una RM de protección para HC (RMa = 0.4, IC 95 %: 0.1-0.8). CONCLUSIONES: La HFET puede es una estrategia fácil y accesible para identificar pacientes con SD con mayor riesgo de HC.

Characteristics of adults with Down syndrome hospitalised in Spanish internal medicine departments during 2005-2014. / Características de los adultos con síndrome de Down ingresados en los servicios de medicina interna españoles en el periodo 2005-2014.

INTRODUCTION AND OBJECTIVES: The clinical problems of adults with Down syndrome seem to differ from those of the general population. To better understand these differences, we list the demographic and clinical characteristics of adults with Down syndrome admitted to Spanish internal medicine departments during 2005-2014. PATIENTS AND METHODS: We conducted an observational retrospective study using data collected from the minimum basic data set on hospitalisation episodes of adults with Down syndrome in the internal medicine departments of Spain's National Health System from 2005 to 2014. We analysed the patients' epidemiological, clinical and societal data. RESULTS: A total of 7548 hospitalisation episodes from 3786 patients were recorded. Some 56.6% of the patients were male with a mean age (±SD) of 47±13 years, and 715 of the patients died (18.9%). The age-adjusted mortality was 26.6%, and the mean stay was 9.6±12 days. The hospitalisation was for respiratory disease in 3684 episodes (48.8%) and for cardiac origin in 760 (10%). The most common comorbidities were hypothyroidism (27.1%, 2043 episodes), epilepsy (24.1%, 1819 episodes) and dementia (15.4%, 1162 episodes). CONCLUSIONS: The hospitalisation of adults with Down syndrome in internal medicine departments has increased in the past decade. Although the reasons for hospitalisation, mean stay and cost per episode for this population are similar to those of the general population treated by internal medicine departments, the age-adjusted hospital mortality was significantly greater.

Myoclonic epilepsy in Down syndrome and Alzheimer disease. / Epilepsia mioclónica en el síndrome de Down y en la enfermedad de Alzheimer.

INTRODUCTION: Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges. METHOD: We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed. RESULTS: In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam. CONCLUSIONS: The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment.

[Hospital morbidity and mortality in children with Down's syndrome: Experience in a university hospital in Chile]. / Morbimortalidad hospitalaria en niños con síndrome de Down.

INTRODUCTION: Children with Down's syndrome (DS) have a higher risk of congenital malformations and acute diseases, with increased risk of hospital admissions compared with the general population. This study describes patterns of hospital admissions for children and adolescents with DS. PATIENTS AND METHODS: A retrospective study of hospital admissions of children with DS, younger than 15 years old, and cared for by the Paediatric Department of the Hospital Clínico Pontificia Universidad Católica de Chile, between 2008 and 2011. RESULTS: There were 222 admissions of 161 patients with DS during the study period, of which 110 were girls. The median age was 8 months, and the median hospital stay was 6 days. Just over half (56.7%) of the hospital stays were in the Paediatric Critic Care Unit. Heart surgery was performed on 59.4%, and the principal congenital heart defect attended was atrioventricular canal. The principal diagnosis, other than heart surgery, was lower respiratory tract infection. In this series, 3 children died. CONCLUSIONS: Children with DS are a relevant group for inpatient care, because their high incidence in Chile, their respiratory and cardiovascular risk, prolonged hospitalizations, high frequency of critical care days and mortality risk. This group has special and complex needs during their hospitalizations and it is necessary to create a multidisciplinary team with competences to take care the particular characteristics of this vulnerable group.

[Ear, nose and throat disease profile in children with Down syndrome]. / Perfil de morbilidad otorrinolaringológica en niños con síndrome de Down.

INTRODUCTION: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. PATIENTS AND METHOD: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. RESULTS: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. CONCLUSIONS: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.

[Spinal stenosis at the level of atlas in a boy with Down syndrome. A case report and literature review]. / Estenosis de canal a nivel del atlas en un niño con síndrome de Down. Presentación de un caso y revisión de la literatura.

INTRODUCTION: The appearance of congenital anomalies at the level of atlas is frequent in patients with neural alterations, as well as in the Down syndrome. The presence of clinical stenosis for alteration in the posterior arch of C1 without a previous atlantoaxial subluxation hasn't been described in the literature thus far. CASE REPORT: We report an exceptional case of myelopathy due to compression at the level of the atlas in a 5-year-old boy with Down syndrome provoked by a developmental anomaly of the posterior arch of C1. A posterior laminectomy was achieved at that level with improvement of the previous symptoms. CONCLUSIONS: We have to pay special attention in children with syndromes associated with chondrogenesis alterations, as in the case of those with Down syndrome, to benefit from early treatment, since in most of the time they are diagnosed when symptoms are very severe.

Clinical profile, otologic, and auditory outcomes in patients with Down syndrome.

INTRODUCTION AND OBJECTIVES: Even though the incidence has decreased in recent years, Down syndrome (DS) remains the most common chromosomal disorder today. Despite being a condition with multisystemic involvement, it often tends to affect the head and neck area, making it a frequent reason for consultation with pediatric otolaryngologists or otologists. The purpose of this work is to be one of the first in Spain to characterize and describe the pathology and therapeutic approach typically provided to these patients, analyzing the evolution from a clinical and auditory perspective. MATERIAL AND METHODS: We aim to analyze a sample of 16 pediatric patients recruited over the past 24 years, diagnosed with Down syndrome, and experiencing a wide range of diseases affecting the ear and its auditory function. RESULTS: 62.50% of the patients were women, whose main reason for seeking specialist care was acute and serous otitis media, accounting for 31.25%. These patients have an indication for treatment for various entities within the otological sphere that usually do not differ from those of a healthy child. However, the evolution and response to treatments can take on a torpid character due to the anatomical characteristics of the ears of these patients. CONCLUSIONS: Although the frequency of children with DS in the pediatric otolaryngologist's clinic is decreasing, these patients have a predisposition to ear diseases with auditory repercussions, with variable evolution depending on the disease and the child's intrinsic characteristics.

Prevalence of congenital heart disease in relation to height above sea level in a region of Colombia.

INTRODUCTION: Congenital heart diseases are the most common congenital disorders in the world population, they generally manifest after birth. Altitudes between 2,500-3,500 meters above sea level have been linked to the high incidence of congenital heart diseases such as patent ductus arteriosus, atrial septum defects, and ventricular septum defects. OBJETIVES: To characterize clinically and sociodemographically the patients diagnosed with congenital heart disease from low, moderate and high altitudes in a regional hospital in Colombia. METHODOLOGY: Observational, descriptive retrospective study. All patients under 18 years of age with a diagnosis of congenital heart disease, treated at the San Rafael de Tunja University Hospital between 2015 and 2021, were included. RESULTS: 51.9% of the patients were male, 16.3% had a history of prematurity and 9.1% had a diagnosis of Down syndrome. The most frequent heart diseases were: persistent ductus arteriosus 35.1%, followed by ventricular communication representing 21.6% and intra-atrial communication with 19.7%). CONCLUSIONS: They must eestablish strategies such as screening and timely diagnosis of congenital heart disease in at-risk populations in order to improve the life prognosis of patients and the outcome of the disease.

INTRODUCCIÓN: Las cardiopatías congénitas son los trastornos congénitos más frecuentes en la población mundial, se manifiestan generalmente después del nacimiento. Las altitudes entre 2,500 y 3,500 metros sobre el nivel del mar se han relacionado con la alta incidencia de cardiopatías congénitas como el ductus arterioso persistente, los defectos del septum auricular y los defectos del septum ventricular. OBJETIVO: Caracterizar clínica y sociodemográficamente los pacientes con diagnóstico de cardiopatías congénitas procedentes de altitudes bajas, moderadas y altas en un hospital regional de Colombia. METODOLOGÍA: Estudio observacional, descriptivo retrospectivo. Se incluyeron todos los pacientes menores de 18 años con diagnóstico de cardiopatías congénitas, atendidos en el Hospital Universitario San Rafael de Tunja entre el 2015 y 2021. RESULTADOS: El 51.9% de los pacientes eran de sexo masculino, el 16.3% tenían antecedente de prematurez y el 9.1% tenían diagnóstico de síndrome de Down. Las cardiopatías más frecuentes fueron: ductus arterioso persistente (35.1%), seguido de comunicación interventricular (21.6%) y comunicación intrauricular (19.7%). CONCLUSIONES: Se deben establecer estrategias como el tamizaje y diagnóstico oportuno de las cardiopatías congénitas en poblaciones de riesgo con el fin de mejorar el pronóstico de vida de los pacientes y desenlace de la enfermedad.

[Late diagnosis of spinal muscular atrophy in a patient with Down syndrome]. / Diagnóstico tardío de atrofia muscular espinal en paciente con síndrome de Down.

A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.

Anaesthetic management in neurosurgery in a patient with Eisenmenger syndrome and Down syndrome. A case report.

Adults patients with congenital heart disease increasingly present for non cardiac surgery. The anesthetic management this type of patients in neurosurgery requires a meticulous surgical anesthetic planning. The need for urgent intervention, with the presence of a congenital heart disease evolved to Eisenmenger syndrome, associated to a difficult airway, is a challenge for the anesthesiologist. The use of dexmedetomidine may be a valid alternative. We present the case of a patient with Down syndrome, and Eisenmenger syndrome who underwent drainage of brain abscess from the emergency department and was subsequently scheduled for reintervention. We compare the different anesthetic techniques used in both procedures, analyzing the implications they had on the main physiopathological alterations presented by the patient.

[Estimation of fat mass by anthropometric indicators in young people with Down syndrome]. / Estimación de la masa grasa por medio de indicadores antropométricos en jóvenes con síndrome de Down.

INTRODUCTION: Introduction: the assessment of body composition is relevant and useful for designing interventions for healthy lifestyles and nutritional strategies. Objective: our goal was to verify the relationships between adiposity indicators with fat mass (FM), and to validate equations that allow predicting FM in young people with Down syndrome (SD). Methods: a cross-sectional study was carried out in 48 young people with DS (24 men and 24 women). Weight, height, waist circumference (WC), and hip circumference (HC) were evaluated. Body mass index (BMI), body adiposity index (BAI), waist-to-hip index (WHI), and waist-to-height index (WHtR) were calculated. FM was evaluated by dual energy X-ray absorptiometry (DXA). Results: age in men was 19.3 ± 3.0 years, and in women it was 18.9 ± 1.9 years; weight was 73.6 ± 14.3 kg in men and 75.8 ± 20.3 kg in women, and height in men was 168.9 ± 6.5 cm, and in women it was 156.3 ± 6.2 cm. In males the correlations between FM (DXA) with BMI, WC, HC, WHtR, BAI and WHtR ranged from r = 0.01 to r = 0.89, and in females from r = 0.10 to r = 0.97. The highest correlations were observed with BMI and WC in both sexes (males r = 0.78 to 0.92, and females r = 0.83 to 0.97). Regression equations were generated to estimate FM in males (R2 = 84 %) and in females (R2 = 96 %). Percentiles were calculated for MG per DXA and for each equation. Conclusions: there were significant positive correlations between BMI and WC with FM. These indicators were decisive for developing equations that estimate FM in young people with DS. The results suggest its potential use and application to evaluate, classify and monitor body fat levels in clinical and epidemiological contexts.

INTRODUCCIÓN: Introducción: la evaluación de la composición corporal es relevante y útil para diseñar intervenciones de estilos de vida saludables y estrategias nutricionales. Objetivos: verificar las relaciones existentes entre los indicadores de adiposidad y la masa grasa (MG), y validar ecuaciones que permitan predecir la MG en jóvenes con síndrome de Down (SD). Métodos: se efectuó un estudio transversal en 48 jóvenes con SD (24 hombres y 24 mujeres). Se evaluaron el peso, la estatura, la circunferencia de la cintura (CC) y la circunferencia de la cadera (CCa). Se calcularon el índice de masa corporal (IMC), el índice de adiposidad corporal (IAC), el índice cintura-cadera (ICC) y el índice cintura-estatura (ICE). Se evaluó la MG mediante absorciometría de rayos X de doble energía (DXA). Resultados: la edad de los hombres era de 19,3 ± 3,0 años y la de las mujeres de 18,9 ± 1,9 años; el peso era de 73,6 ± 14,3 kg en los hombres y de 75,8 ± 20,3 kg en las mujeres; finalmente, la estatura de los hombres era de 168,9 ± 6,5 cm y la de las mujeres de 156,3 ± 6,2 cm. En los hombres, las correlaciones entre la MG (DXA) y los parámetros IMC, CC, CCa, ICE, IAC e ICE oscilaron entre r = 0,01 y r = 0,89; en las mujeres, entre r = 0,10 y r = 0,97. Las correlaciones más altas se observaron con el IMC y la CC en ambos sexos (hombres, r = 0,78 a 0,92 y mujeres, r = 0,83 a 0,97). Se generaron ecuaciones de regresión para estimar la MG en los hombres (R2 = 84 %) y en las mujeres (R2 = 96 %). Se calcularon los percentiles de MG según la DXA y con cada ecuación. Conclusiones: hubo correlaciones positivas significativas del IMC y la CC con la MG. Estos indicadores fueron determinantes para desarrollar ecuaciones que estiman la MG de los jóvenes con SD. Los resultados sugieren su uso y aplicación para evaluar, clasificar y monitorizar los niveles de adiposidad corporal en contextos clínicos y epidemiológicos.

Macular and choroidal thickness in Down syndrome by swept-source optical coherence tomography (SS-OCT).

Down syndrome (DS) is associated with certain structural and functional disorders in the whole visual system. The purpose was to compare retinal and choroidal thickness using swept-source optical coherence tomography (SS-OCT) in DS subjects with controls. This cross-sectional study included 100 eyes of 52 DS subjects and 78 eyes of 39 matching age and axial length controls. Our results showed that inner or outer retinal and ganglionar thickness showed no significant differences between DS and control group (p > 0.05). However, retinal foveal thickness (rFT), ganglion foveal thickness (gFT) were significantly higher in DS group than in controls, whereas choroidal foveal thickness (cFT) and some choroidal quadrants of inner and outer rings were significantly lower (p < 0.05). This the first pilot study to provide information about macular and choroidal thicknesses in SD using SS-OCT compared to controls. Further analyses with larger numbers of subjects are needed to confirm our results.

Macular and choroidal thickness in Down syndrome by swept-source optical coherence tomography (SS-OCT). / Espesor macular y coroideo en el síndrome de Down mediante swept-source tomografía de coherencia óptica (SS-OCT).

Down syndrome (DS) is associated with certain structural and functional disorders in the whole visual system. The purpose was to compare retinal and choroidal thickness using swept-source optical coherence tomography (SS-OCT) in DS subjects with controls. This cross-sectional study included 100 eyes of 52 DS subjects and 78 eyes of 39 matching age and axial length controls. Our results showed that inner or outer retinal and ganglionar thickness showed no significant differences between DS and control group (p>0.05). However, retinal foveal thickness (rFT), ganglion foveal thickness (gFT) were significantly higher in DS group than in controls, whereas choroidal foveal thickness (cFT) and some choroidal quadrants of inner and outer rings were significantly lower (p<0.05). This the first pilot study to provide information about macular and choroidal thicknesses in SD using SS-OCT compared to controls. Further analyses with larger numbers of subjects are needed to confirm our results.

Anaesthetic management in neurosurgery in a patient with Eisenmenger syndrome and Down syndrome. A case report. / Manejo anestésico en neurocirugía de paciente con síndrome de Eisenmenger y síndrome de Down. Reporte de un caso.

Adults patients with congenital heart disease increasingly present for non cardiac surgery. The anesthetic management this type of patients in neurosurgery requires a meticulous surgical anesthetic planning. The need for urgent intervention, with the presence of a congenital heart disease evolved to Eisenmenger Syndrome, associated to a difficult airway, is a challenge for the anesthesiologist. The use of dexmedetomidine may be a valid alternative. We present the case of a patient with Down syndrome, and Eisenmenger syndrome who underwent drainage of brain abscess from the emergency department and was subsequently scheduled for reintervention. We compare the different anesthetic techniques used in both procedures, analyzing the implications they had on the main physiopathological alterations presented by the patient.

Haemodynamic profile of Spanish adults with Down syndrome. / Perfil hemodinámico de los adultos españoles con síndrome de Down.

OBJECTIVES: Although the reasons are unknown, the prevalence of arterial hypertension and atherosclerotic cardiovascular events in the adult population with Down syndrome (SD) is anecdotal. To better understand this finding, we evaluated the haemodynamic characteristics of a cohort of adults with SD. METHODS: We conducted a cross-sectional study of adults with SD recruited consecutively from the outpatient clinics of an internal medicine department between June and November 2018. We collected demographic, clinical and laboratory variables and employed a thoracic bioimpedance device (HOTMAN® System) for the haemodynamic measures. Outpatient blood pressure monitoring (OBPM) was conducted on a subgroup of participants. RESULTS: Twenty-six participants (mean age, 45±11years) participated in the study (50% men). The sample's mean blood pressure (BP) was 109/69±11/9mmHg, with a mean heart rate of 60±12bpm. None of the participants had hypertension. The predominant haemodynamic profile consisted of normal dynamism (65%), normal BP (96%), hypochronotropism (46%), normal inotropism (50%) and hypervolaemia (54%), with normal peripheral vascular resistance values (58%). Twelve participants underwent OBPM (46%). The mean 24-h systolic BP, diastolic BP, mean BP and mean heart rate were 105±11mmHg, 67±11mmHg, 80±11mmHg and 61±6bpm, respectively. CONCLUSIONS: The most common haemodynamic profile observed in adults with SD consisted of hypochronotropism and hypervolaemia, with normal values for peripheral vascular resistance and optimal mean BP values. There were no participants with hypertension in our sample.

Caracterización y prevalencia de comorbilidades en pacientes pediátricos con Síndrome de Down de Republica Dominicana

Este estudio analiza la prevalencia y características de comorbilidades en 534 niños con Síndrome de Down (SD) en la República Dominicana, entre 2018 y 2022. La investigación revela una detección temprana del SD, con una distribución equitativa de género. La mayoría de los casos resultaron de la no disyunción, con una asociación significativa entre la edad materna avanzada y el aumento en el riesgo de SD. Alrededor del 62.2% de los niños presentaron comorbilidades, con condiciones cardíacas como las más prevalentes, seguidas por comorbilidades endocrinas y neurológicas, principalmente hipotiroidismo y trastornos epilépticos. Las afecciones oftálmicas y otorrinolaringológicas también fueron comunes, destacando el estrabismo y la hipoacusia. Los hallazgos enfatizan la necesidad de un manejo temprano e integral adaptado a las características individuales y regionales de los pacientes con SD. (provisto por Infomedic International)

This study analyzes the prevalence and characteristics of comorbidities in 534 children with Down Syndrome (DS) in the Dominican Republic, between 2018 and 2022. The research reveals early detection of DS, with an equal gender distribution. Most cases resulted from nondisjunction, with a significant association between advanced maternal age and increased risk of DS. About 62.2% of the children had comorbidities, with cardiac conditions being the most prevalent, followed by endocrine and neurologic comorbidities, mainly hypothyroidism and seizure disorders. Ophthalmic and otorhinolaryngologic conditions were also common, with strabismus and hypoacusis standing out. The findings emphasize the need for early and comprehensive management adapted to the individual and regional characteristics of patients with DS. (provided by Infomedic International)

Conhecimento dos estudantes de odontologia sobre as manifestações orais e atendimento odontológico em pacientes com Síndrome de Down

Objetivo: avaliar o conhecimento e atitudes dos estudantes de odontologia sobre as manifestações orais e o atendimento odontológico em pacientes com Síndrome de Down (SD). Métodos: Trata-se de um estudo observacional do tipo transversal, com uma amostra constituída de estudantes que estavam cursando disciplinas clínicas. A coleta de dados foi realizada através de um questionário composto por questões acerca do tema. Foi realizada estatística descritiva e analítica, onde verificou-se a relação no nível de conhecimento e atitude dos estudantes com as demais variáveis avaliadas. Considerou-se um nível de significância de 5% para todas as análises. Resultados: Participaram do estudo 85 estudantes (89,47% da população estudada). A nota média de conhecimento foi de 5,18 pontos e 75,3% afirmou não se sentir seguro em atender pacientes com SD. A presença de SD na família, o fato de se sentir seguro e já ter recebido informação prévia sobre o tema não influenciou significativamente na média de acerto dos estudantes. Apenas aqueles que relataram ter tido algum tipo de formação prévia, extra-sala, apresentaram médias significativamente maiores quando comparado ao que não tiveram. Os estudantes matriculados em períodos mais avançados apresentaram médias significativamente maiores do que aqueles em períodos mais iniciais. Conclusão: O conhecimento dos estudantes de odontologia sobre o tema, de modo geral, é baixo. Porém, tende a aumentar com o avanço dos períodos/curso. A maioria dos estudantes não possuem segurança em atender pacientes com SD.

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.

Características otorrinolaringológicas en niños con trisomía 21: un estudio de 171 pacientes en el Hospital Infantil de México Federico Gómez.

Introduction: Children with trisomy 21 face a wide range of conditions in the head and neck region, for which it is important that physicians are aware and have a strong understanding of the ear, nose, and throat (ENT) disorders, and their management as well. Methods: Retrospective case series of pediatric patients with trisomy 21. The spectrum of otolaryngological manifestations, their management, and outcomes of each case were analysed. Results: One hundred and seventeen pediatric patients were included. The mean age was 7.2 ± 4.2 years. More than half of the patients (63%) had hearing loss (HL). The most frequent presentation was conductive HL, predominating the mild and bilateral type. The most common otological manifestations found were external ear canal stenosis and Eustachian tube dysfunction. Up to 75% of the patients with otologic involvement required some surgical procedure. The most common rhinological manifestations were chronic rhinosinusitis and allergic rhinitis. Obstructive sleep apnea (OSA) was present in 30% of all patients, which main treatment was tonsillectomy, followed by continuous positive and biphasic positive airway pressure treatments. Less than 5% of the patients presented a laryngeal compromise. Conclusions: Pediatric patients with trisomy 21 systematically should be referred to periodic ENT assessment due to the high incidence of manifestations in this region. Timely treatments should be offered in order to improve the health and the quality of life of the patient.

Introducción: Los niños con trisomía 21 enfrentan una amplia gama de problemas en la región de la cabeza y el cuello, por lo cual es importante reconocer las manifestaciones otorrinolaringológicas que presentan, así como su apropiado manejo. Métodos: Estudio de serie de casos retrospectivo de pacientes pediátricos con trisomía 21. De cada caso se analizó el espectro de manifestaciones otorrinolaringológicas, el manejo establecido y los resultados. Resultados: Se incluyeron 171 niños. La edad media de la primera valoración por otorrinolaringología en la institución fue de 7.2 ± 4.2 años. Las manifestaciones otológicas más frecuentes fueron la estenosis del conducto auditivo externo y la disfunción de la trompa de Eustaquio. Más de la mitad de los pacientes (63%) presentaron hipoacusia, principalmente de tipo conductivo bilateral, y hasta el 75% de los pacientes con afectación otológica requirieron algún procedimiento quirúrgico. Las manifestaciones rinológicas más comunes fueron la rinosinusitis crónica y la rinitis alérgica. La apnea obstructiva del sueño estuvo presente en el 30% de los pacientes. El tratamiento principal fue la amigdalectomía, seguida del tratamiento con dispositivos de presión positiva de la vía aérea. Menos del 5% de los pacientes presentaron un compromiso laríngeo. Conclusiones: Los pacientes pediátricos con trisomía 21 deben ser remitidos sistemáticamente a una evaluación otorrinolaringológica periódica, debido a la alta incidencia de manifestaciones en esta región. Se deben ofrecer tratamientos oportunos para mejorar su salud y calidad de vida.

Avaliação e ensino de emoções com crianças e jovens adultos com autismo ou síndrome de down mediado pela família / Assessment and teaching of emotions with children and young adults with autism or down syndrome mediated by family / Evaluación y enseñanza de las emociones con niños y jóvenes con autismo o síndrome de down mediadas por la familia

Este estudo avaliou o reconhecimento (imitação, identidade e identificação) e a nomeação de estímulos emocionais de valência negativa (raiva e tristeza) e positiva (alegria e surpresa) em conjunto com a influência dos tipos de estímulos utilizados (social-feminino, social-masculino, familiar e emoji) em crianças e jovens adultos com autismo ou síndrome de Down, por meio de tarefas aplicadas pela família e mediadas por recursos tecnológicos durante a pandemia de covid-19. Participaram cinco crianças e dois jovens adultos com autismo e uma criança e dois jovens adultos com síndrome de Down. Foram implementadas tarefas de identidade, reconhecimento, nomeação e imitação, com estímulos faciais de função avaliativa (sem consequência diferencial) e de ensino (com consequência diferencial, uso de dicas e critério de aprendizagem), visando a emergência da nomeação emocional por meio do ensino das tarefas de reconhecimento. Os resultados da linha de base identificaram que, para os participantes que apresentaram menor tempo de resposta para o mesmo gênero, a diferença de tempo de resposta foi em média 57,28% menor. Em relação à valência emocional, 50% dos participantes apresentaram diferenças nos acertos, a depender da valência positiva e negativa, sendo que 66,66% apresentaram diferenças para o tempo de resposta a depender da valência emocional. Após o procedimento de ensino, os participantes mostraram maior número de acertos nas tarefas, independentemente do gênero de estímulo e valência emocional, criando ocasião para generalização da aprendizagem de reconhecimento e nomeação de emoções, além de consolidar a viabilidade de estratégias de ensino mediadas por recursos tecnológicos e aplicadas por familiares.(AU)

This study evaluated the recognition (imitation, identity, and identification) and naming of negative (anger and sadness) and positive (joy and surprise) emotional stimuli alongside the influence of the types of stimuli (social-female, social-male, family, and emoji) in children and young adults with autism and Down syndrome, via tasks applied by the family and mediated by technological resources, during the COVID-19 pandemic. Five children and two young adults with autism and one child and two young adults with Down syndrome participated. Identity, recognition, naming, and imitation tasks were planned and implemented using facial stimuli with evaluative (without differential consequence) and teaching (with differential consequence, tips, and learning criteria) functions, aiming at the emergence of emotional naming from the recognition teaching tasks. The baseline results showed that, for participants who had a shorter response time for the same gender, the response time difference was on average 57.28% lower. Regarding the emotional valence, 50% of the participants showed differences in the correct answers, depending on the positive and negative valence, and 66.66% showed differences in the response time depending on the emotional valence. After the teaching procedure, the participants showed a greater number of correct answers in the tasks, regardless of the stimulus type and emotional valence, creating an opportunity for generalizing learning of emotion recognition and naming, in addition to consolidating the feasibility of teaching strategies mediated by technological resources and applied by family members.(AU)

Este estudio evaluó el reconocimiento (imitación, identidad e identificación) y la denominación de estímulos emocionales negativos (enfado y tristeza) y positivos (alegría y sorpresa) y la influencia de los tipos de estímulos utilizados (social-femenino, social-masculino, familiar y emoji ) de niños y jóvenes con autismo o síndrome de Down, a través de tareas aplicadas por la familia, mediadas por recursos tecnológicos durante la pandemia de la covid-19. Participaron cinco niños y dos adultos jóvenes con autismo, y un niño y dos adultos jóvenes con síndrome de Down. Se planificaron e implementaron tareas de identidad, reconocimiento, nombramiento e imitación con estímulos faciales con función evaluativa (sin consecuencia diferencial) y enseñanza (con consecuencia diferencial, uso de ayudas y criterios de aprendizaje), buscando la emergencia del nombramiento emocional después de la enseñanza de tareas de reconocimiento. Los resultados de la línea de base identificaron que para los participantes que tenían un tiempo de respuesta más corto para el mismo género, la diferencia en el tiempo de respuesta fue un 57,28% menor. En cuanto a la valencia emocional, el 50% de los participantes mostraron diferencias en las respuestas correctas, en función de la valencia positiva y negativa, y el 66,66% tuvieron diferencias en el tiempo de respuesta, en función de la valencia emocional. Después del procedimiento de enseñanza, los participantes mostraron mayor número de aciertos en las tareas evaluadas, independientemente del tipo de estímulo o valencia emocional, lo que genera una oportunidad para la generalización del aprendizaje de reconocimiento y denominación de emociones, además de consolidar la viabilidad de estrategias de enseñanza mediadas por recursos tecnológicos y aplicadas por la familia.(AU)