Current practices of canal wall up versus canal wall down mastoidectomy: a review

To achieve a disease-free and dry ear is the goal of mastoidectomy in chronic otitis media (COM) with or without cholesteatoma. The operating surgeon, the patient, and the disease process all have a role in the surgical procedure selection. In the case of cholesteatoma with COM, the surgeon has significant hurdles in the prevention of recurrent disease and the maintenance of hearing. Canal wall up (CWU) and canal wall down (CWD) are the surgical methods used for treatment of the COM with cholesteatoma. The importance of surgical method outcomes has been highlighted in recent surgical works, not only in terms of technical success but also in connection to the impact of therapy on patients' quality of life and welfare. The surgical procedures of CWP and CWD usually alter the middle ear structures which affect the transmission of sound from the tympanic membrane to the cochlea. The kind of disease, the depth of the pathology, and the patient's overall condition all have a role in the decision to use a surgical technique like CWU or CWD in COM. Due to improved audiometric results and simpler postoperative care, the CWU approach is frequently preferred despite having a greater probability of revision surgery. CWD surgical techniques usually lower the residual/recurrent rates of cholesteatoma. With regard to the surgical management of COM with cholesteatoma, this review article compares the effectiveness and current procedures of CWU mastoidectomy and CWD mastoidectomy.

Hueso nasal como marcador de aneuploidías y resultado perinatal / Nasal bone as a marker of aneuploidies and perinatal outcome

Objetivo: Describir el resultado perinatal de los embarazos en función de la evaluación del hueso nasal como marcador de aneuploidía. Métodos: De 1006 embarazadas, 607 cumplieron con los criterios de inclusión para este estudio prospectivo, descriptivo, correlacional no causal donde se correlacionó la ausencia/presencia de hueso nasal con la presencia de síndrome de Down a través de cariotipo fetal prenatal y/o posnatal, así como examen clínico neonatal. Los datos fueron analizados mediantes frecuencias absolutas, porcentajes, capacidad diagnóstica del hueso nasal (índice de Youden), sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo y cocientes de probabilidad, positivo y negativo. Resultados: La prevalencia de síndrome de Down fue de 1,48 %, la ausencia del hueso nasal como marcador aislado, obtuvo un índice de Youden de 0,55 (0,23 - 0,88), sensibilidad de 55,56 %, especificidad de 99,50 %, valor predictivo positivo de 62,5 %, valor predictivo negativo de 99,33 %, cocientes de probabilidad positivo (hueso nasal ausente) 111 (IC 95 % 31 - 394) y cocientes de probabilidad negativo (hueso nasal presente) de 0,45 (IC 95 % 0,22 -0,93). Conclusión: La ausencia de hueso nasal en primer trimestre aumenta el riesgo de síndrome de Down en 111 veces y la presencia del mismo lo disminuye, sin valor como prueba diagnóstica sino de pesquisa debe considerarse como un marcador secundario(AU)

Objective: To know the perinatal outcome based on nasal bone evaluation as an aneuploidy marker. Methods: From 1006 pregnant women, 607 met the inclusion criteria for this prospective, descriptive, correlational not causal research correlating nasal bone absence / presence with Down syndrome through prenatal / postnatal fetal karyotype and neonatal clinical examination. Absolute frequencies and percentages, nasal bone performance as a diagnostic test (Youden índex), sensitivity, specificity, positive predictive value, negative predictive value, likelihood ratios positive and negative, were calculated. Results: 1.48 % was the Down syndrome prevalence on the sample. The nasal bone absence as an isolated marker obtained an 0,55 Youden index (0.23 to 0.88 ), sensitivity 55,56%, specificity 99,50%, positive predictive value 62,5%, negative predictive value 99,33%, likelihood ratios positive (absent nasal bone) 111, (95% CI 31-394) and likelihood ratios negative (nasal bone present ) 0,45 (95% CI 0 22 -0.93 ). Conclusion: The nasal bone absence in first trimester increases Down syndrome risk 111 times and nasal bone presence decreases it with poor performance as a diagnostic test, so it should be considered a screening test and a secondary marker. Recommendations correlate these results with other markers to improve detection rates and quantify nasal bone measurements in order to make nasal bone nomograms in first trimester pregnancies(AU)

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.

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.

The outcome of down-regulation+hormone replacement cycle endometrial preparation regimen in frozen-thawed embryo transfer in advanced age women / 重庆医学

Objective To analyze the effects of down-regulation+hormone replacement therapy(HRT)endometrial preparation regimen on the pregnancy outcomes of advanced age women(≥35 years old)undergoing frozen-thawed embryo transfer.Methods The clinical data of 329 patients with frozen-thawed em-bryo transfer in this hospital from June 2020 to June 2022 were analyzed retrospectively.Among them,149 pa-tients receiving gonadotropin-releasing hormone analogue(GnRHa)down-regulation+HRT endometrial preparation were included in the group A,and the other 180 patients with HRT endometrial preparation were included in the group B.The basic situation,endometrial transformation day situation and clinical outcome were compared between the two groups.The group A and group B were further divided into the two sub-groups according to age:group A1(35-＜40 years old,n=101),group A2(≥40 years old,n=48),group B1(35-＜40 years old,n=99)and group B2(≥40 years old,n=81).The effects of two endometrial prepara-tion regimens were compared among the different age groups.Results There were no significant differences in the age,infertility years,BMI,anti-Mullerian hormone level,as well as basal hormones levels such as estra-diol,progesterone,follicle-stimulating hormone,luteinizing hormone(LH),prolactin and testosterone between the two groups(P＞0.05).The levels of estradiol and LH on the endometrial transformation day in the group A were significantly lower than those in the group B(P＜0.05),the endometrial thickness,proportion of the patients with endometrial thickness ≥8 mm and proportion of the patients with type Ⅲ blood intima in the group A were significantly higher than those in the group B(P＜0.05).There was no significant difference in the number of transplanted embryos and the number of transplanted excellent embryos between the two groups(P＞0.05).The clinical pregnancy rate and embryo implantation rate in the group A were significantly higher than those in the group B(46.31％vs.35.56％;33.33％vs.25.18％,P＜0.05),and there was no significant difference in the early miscarriage rate between the two groups(P＞0.05).The further subgroup analysis showed that the clinical pregnancy rate and embryoimplantation rate in the group A2 were significant-ly higher than those in the group B2(35.42％vs.18.52％;21.43％vs.12.40％,P＜0.05),while there was no significant difference between the group A1 and group B1(P＞0.05).Conclusion The advanced age pa-tients undergoing frozen-thawed embryo transfer could select GnRHa down-regulation+HRT regimen to a-chieve better pregnancy outcomes,especially for those age ≥40 years old.

Evaluation of measurement uncertainty of laboratory endocrine test items / 中国现代医生

Objective To evaluate the measurement uncertainty of endocrine test items by"top-down"method.Methods The"top-down"method in the technical report of CNAS-CL01-G003:2021"Medical Laboratory-Evaluation and Expression of Measurement Uncertainty"was used,collecting the laboratory's internal quality control data and the external quality assurance results of Beijing Clinical Laboratory Center from 2019 to 2021.To evaluate the measurement uncertainty of 11 endocrine tests including free triiodothyronine(FT3),total triiodothyronine(TT3)and free thyroxine(FT4).Results The relative expanded uncertainties of 11 endocrine test items in laboratory were FT3:12.658％,TT3:13.372％,FT4:10.468％,total thyroxine(TT4):32.382％,thyroid stimulating hormone(TSH):8.594％,estradiol(E2):18.656％,follicle-stimulating hormone(FSH):14.650％,luteinizing hormone(LH):29.384％,progesterone(PRO):28.806％,prolactin(PRL):13.810％and testosterone(TESTO):31.610％.At the normal concentration level,the relative expanded uncertainties were FT3:12.424％,TT3:12.462％,FT4:8.606％,TT4:14.130％,TSH:12.536％,E2:19.586％,FSH:14.382％,LH:23.400％,PRO:38.346％,PRL:16.014％and TESTO:39.352％.The relative expanded uncertainties at high concentration levels are FT3:13.882％,TT3:14.096％,FT4:11.040％,TT4:8.614％,TSH:7.782％,E2:14.366％,FSH:13.436％,LH:14.804％,PRO:11.574％,PRL:17.742％,TESTO:39.322％.The relative extended measurement uncertainty of TT4,LH near low concentration levels,PRO near low and normal concentration levels,and TESTO near three concentration levels was higher than the target uncertainty(25％),and the remaining items are less than the target uncertainty.Conclusion The quality control data in the laboratory can reflect the measurement uncertainty of 11 endocrine detection items including FT3,TT3 and FT4 in Abbott i2000SR automatic chemiluminescence immunoassay analyzer,which has important clinical application value.

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/).

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

RESUMO 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.

ABSTRACT 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.

Mobility in preschool age children with and without Down syndrome: an exploratory cross-sectional study / Movilidad en preescolares con y sin síndrome de Down: un estudio transversal exploratorio / Mobilidade em pré-escolares com e sem síndrome de Down: um estudo transversal exploratório

ABSTRACT - Few studies have investigated the mobility of preschool age children with Down syndrome (DS). This study aimed to compare the mobility of preschool age children with and without DS and to verify if cognitive function and gait acquisition age may explain mobility outcomes. This was an exploratory cross-sectional study involving 38 children: 19 in the DS group and 19 in the typical development (TD) group. The 10-meter walk test and the modified Timed Up and Go (mTUG) test were used to evaluate mobility. The explanatory factors were the cognitive function screening test score and the age of gait acquisition. Stepwise multiple linear regression models were used. The children in the DS group had slower gait speed (p=0.0001) and took longer to complete the mTUG test (p=0.0001). The cognitive function screening test score and age of gait acquisition explained the variability in gait speed (R 2 =0.52; p=0.0001) and the variability in the time to complete the mTUG test (R 2 =0.68; p=0.0001). Children with DS showed a poorer mobility when compared to the children in the TD group. The outcomes of mobility in this age group were partially explained by the age of gait acquisition and the cognitive function screening test score.

RESUMEN - Son pocos estudios que han investigado la movilidad de preescolares con síndrome de Down (SD). En este contexto, los objetivos de este estudio fueron comparar la movilidad de los preescolares con y sin SD, así como comprobar si la función cognitiva y la edad de adquisición de la marcha pueden explicar los resultados de la movilidad. Se trata de un estudio transversal exploratorio con 38 niños: 19 del grupo con SD y 19 del grupo con desarrollo típico (DT). Para evaluar la movilidad se utilizaron la prueba de marcha de 10 metros y la prueba de levantarse y andar cronometrada modificada (mTUG). Los factores exploratorios fueron la puntuación del cribado de la función cognitiva y la edad de adquisición de la marcha. Se utilizaron modelos de regresión lineal múltiple por pasos. Los niños del grupo con SD tenían una velocidad de marcha inferior (p=0,0001) y necesitaban más tiempo para completar la mTUG (p=0,0001). La puntuación del cribado de la función cognitiva y la edad de adquisición de la marcha explicaron la variabilidad en la velocidad de la marcha (R2=0,52; p=0,0001) y el tiempo para completar la prueba (R2=0,68; p=0,0001). Los niños con SD tuvieron peor movilidad en comparación con los niños con DT. Los resultados de la movilidad en este grupo de edad se deben parcialmente a la edad de adquisición de la marcha y a la puntuación del cribado de la función cognitiva.

RESUMO - Poucos estudos investigaram a mobilidade de pré-escolares com síndrome de Down (SD). Dessa forma, os objetivos desta pesquisa foram comparar a mobilidade de pré-escolares com e sem SD, bem como verificar se a função cognitiva e a idade de aquisição da marcha podem explicar os desfechos de mobilidade. Estudo transversal exploratório com 38 crianças: 19 do grupo SD e 19 do grupo desenvolvimento típico (DT). O teste de caminhada de 10 metros e o timed up and go modificado (mTUG) foram utilizados para avaliar a mobilidade. Os fatores exploratórios foram: a pontuação da triagem da função cognitiva e a idade de aquisição da marcha. Foram usados modelos de regressão linear múltipla stepwise . As crianças do grupo SD apresentaram menor velocidade de marcha (p=0,0001) e necessitaram de mais tempo para completar o mTUG (p=0,0001). A pontuação da triagem da função cognitiva e a idade de aquisição da marcha explicaram a variabilidade na velocidade da marcha (R 2 =0,52; p=0,0001) e o tempo para completar o teste mTUG (R 2 =0,68; p=0,0001). Crianças com SD apresentaram pior capacidade de mobilidade quando comparadas às com DT. Os desfechos de mobilidade nessa faixa etária foram parcialmente explicados pela idade de aquisição da marcha e pelo escore da triagem da função cognitiva.

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

SUMMARY 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.

Desigualdades en el tiempo hasta el diagnóstico del síndrome de Down en Bolivia / Inequalities in time to diagnosis of Down Syndrome in Bolivia

RESUMEN El síndrome de Down es la condición genética más común y una causa principal de discapacidad intelectual. Las personas en áreas rurales, especialmente aquellas con discapacidades, a menudo enfrentan desigualdades en el acceso a la salud. A partir de los registros clínicos de pacientes con diagnóstico confirmado de síndrome de Down entre 2013 y 2022, por el Instituto de Genética de la Universidad Mayor de San Andrés, La Paz, Bolivia, se analizó, analizó el tiempo hasta el diagnóstico de 250 pacientes con síndrome de Down, mostró que los pacientes procedentes de áreas rurales con síndrome de Down tardan cinco meses en promedio en recibir un diagnóstico, comparado a los dos meses en zonas urbanas (p<0,001). No se encontraron diferencias significativas en el tiempo hasta el diagnostico según el sexo. Sin embargo, se evidenció una mayor proporción de varones provenientes de áreas rurales (p=0,03). Los hallazgos sugieren que los individuos de áreas rurales enfrentan dificultades para recibir el diagnóstico. Por otro lado, las mujeres quizás no sean llevadas a ciudades para un diagnóstico y tratamiento adecuado debido a sesgos de género en ciertas comunidades. Se subraya la importancia de mejorar el acceso a diagnósticos y tratamientos tempranos en áreas rurales.

ABSTRACT Down Syndrome is the most common genetic condition and a leading cause of intellectual disability. Individuals in rural areas, particularly those with disabilities, often face disparities in healthcare access. Analyzing clinical records of patients diagnosed with Down Syndrome between 2013 and 2022 by the Institute of Genetics at the Universidad Mayor de San Andrés in La Paz, Bolivia, this study examined the time to diagnosis for 250 patients with Down Syndrome. The findings revealed that patients from rural areas with Down Syndrome take an average of five months to receive a diagnosis, compared to two months in urban areas (p<0.001). No significant differences were found in the time to diagnosis based on gender. However, a higher proportion of males from rural areas was observed (p=0.03). The results suggest that individuals in rural areas face challenges in receiving a timely diagnosis. On the other hand, women may not be brought to cities for proper diagnosis and treatment due to gender biases in certain communities. The importance of improving access to early diagnosis and treatment in rural areas is emphasized.

Coping familiar no cuidado à criança com síndrome de Down: revisão de escopo / Family coping in caring for children with Down syndrome: a scoping review

RESUMO Objetivo mapear as estratégias de coping que contribuem para o cuidado familiar à criança com síndrome de Down. Métodos revisão de escopo, segundo o método JBI. Foram consultadas seis bases de dados eletrônicas e uma biblioteca virtual com apoio da plataforma Rayyan. Os critérios de elegibilidade foram estudos disponíveis e publicados na íntegra, que abordassem estratégias de coping no cuidado familiar a crianças com síndrome de Down. A análise dos dados foi do tipo narrativa. Resultados foram recuperados 381 registros e 14 permaneceram nesta revisão. Seis estilos de coping foram identificados: manejo das emoções, tomadas de decisão, aquisição de conhecimentos sobre a síndrome de Down e situações que a envolvem, busca de apoio, comunicação intrafamiliar e com profissionais e práticas de espiritualidade. Conclusão para equilibrar as demandas apresentadas pelas crianças e os recursos disponíveis, os integrantes da família precisam adotar estratégias cognitivas e comportamentais para lidar com as adversidades nos cuidados com a criança com síndrome de Down. Contribuições para a prática: o estudo apresenta evidências para nortear enfermeiros e outros profissionais de saúde a guiar famílias na utilização de diferentes formas de enfrentamento diante dos eventos estressores vivenciados por estas.

ABSTRACT Objective to map the coping strategies that contribute to family care for children with Down syndrome. Methods scoping review, using the JBI method. Six electronic databases and a virtual library were consulted with the support of the Rayyan platform. The criteria for eligibility were studies available and published in full, which addressed coping strategies in family care for children with Down syndrome. Data analysis was of the narrative type. Results 381 records were retrieved and 14 remained in this review. Six coping styles were identified: managing emotions, decision-making, acquiring knowledge about Down's syndrome and situations involving it, seeking support, communicating within the family and with professionals, and practicing spirituality. Conclusion in order to balance the demands presented by the children and the resources available, family members need to adopt cognitive and behavioral strategies to deal with the adversities of caring for a child with Down syndrome. Contributions to practice: the study presents evidence to guide nurses and other health professionals to help families use different ways of coping with the stressful events they experience.

Intervention plan in vocabulary, working memory, and syntactic awareness for adolescents and young adults with trisomy 21: Content development and validation / Plano de intervenção em vocabulário, memória de trabalho e consciência sintática para adolescentes e jovens adultos com trissomia do 21: desenvolvimento e validação do conteúdo

ABSTRACT Purpose: to develop and validate the content of an intervention plan for adolescents and young adults with Trisomy 21, focusing on vocabulary, working memory, and syntactic awareness. Methods: a methodological study with validation stages for the proposed intervention, which was assessed by ten judges. The content validity index was used to evaluate the content, quantitatively. Results: most judges had a doctoral degree. All propositions reached the minimum score. The oral language intervention plan focusing on vocabulary, working memory, and syntactic awareness was designed for adolescents and young adults aged 13 to 25 years and 11 months. The proposal included fifteen 40-minute weekly sessions. Conclusion: the study presented the process of developing and validating the Oral Language Therapy Plan, focusing on vocabulary, working memory, and syntactic awareness for people presented with trisomy 21, with the judges' agreement.

RESUMO Objetivo: elaborar e validar o conteúdo de um plano de intervenção para adolescentes e jovens adultos com Trissomia do 21 focado em vocabulário, memória de trabalho e consciência sintática. Métodos: estudo metodológico, com etapas de validação de proposta de intervenção. Foi realizada avaliação com um grupo de dez juízes. Para avaliação do conteúdo de forma quantitativa, foi utilizado o Índice de Validade de Conteúdo. Resultados: a maior parte dos juízes apresenta doutorado. Em todas as proposições, o escore mínimo foi atingido. O plano de intervenção em linguagem oral com foco em vocabulário, memória de trabalho e consciência sintática foi elaborado para adolescentes e jovens adultos entre 13 e 25 anos e 11 meses. A proposta contempla 15 sessões de 40 minutos, semanalmente. Conclusão: foi possível apresentar o processo de desenvolvimento e validação do Plano Terapêutico em Linguagem Oral com foco em Vocabulário, Memória de Trabalho e Consciência Sintática para pessoas com Trissomia do 21 com a concordância dos juízes.

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)

The therapeutic effects of a modified palatal memory plate on oral motor function in children with Trisomy 21 at age 3 and 4 years: Case Reports

ABSTRACT People with Trisomy 21 (T21) have generalized hypotonia, also manifesting in oral structures. The palatal memory plate (PMP) is a removable appliance to improve tongue and lip posture. The evidence of research elucidates an improvement in oral motor function in children with T21 up to the age of 2 who received PMP-based therapy, with only limited, scanty reports in the literature concerning older children. Therefore, the aim of this study is to evaluate the effects of modified PMP on an oral motor function in patients over 2 years old. Two patients with T21, aged 4 and 3, with absence of lip seal and tongue malposition, were subjected to PMP-based therapy for 6 months. The patients were evaluated for an extra and intra oral exam; their parents answered a questionnaire about their children's habitual tongue and lip position. Two-minute footage to record orofacial motor functions was performed monthly, during follow-up appointments to assess the changes. The substantial improvement of tongue and lip posture was observed after 6 months of plate regular use. PMP has proved to be clinically effective in children over 2 years old, presented with T21, leading to improvement of lip and tongue posture, observed by parents and professionals.

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.

Knowledge level of children with Down Syndrome's parents before and after reading electronic book "Tooth Injuries in Children with Down Syndrome / Nível de conhecimento dos pais de crianças com Síndrome de Down antes e depois da leitura do livro eletrônico "Traumatismos Dentários em Crianças com Síndrome de Down

Objective: To analyse the knowledge level before and after reading electronic book "Tooth Injuries in Children with Down Syndrome" through children with Down syndrome's Parents. Material and Methods: This study was conducted at three special need school type C (designed to the mentally disabled children) in Jakarta and POTADS Foundation, with 37 eligible parents. Book and questionnaire used were developed and modified from the guidelines of tooth injuries on typical children, with special consideration of children with Down syndrome. Validity and reliability were tested through discussion with experts, dentists, and children with Down syndrome's parents. Knowledge was measured twice, before and after reading electronic book for 10 minutes each step using same questionnaire. The total scores were categorized as follows: good (12-15), fair (9-11), and poor (0-8). Difference knowledge scores were statistically tested. Results: Mean of total score before and after reading were 6.62 (poor); 10.51 (fair), respectively. Difference score was statistically significant (p=0,001) using paired T-test. Conclusion: The electronic book "Tooth Injuries in Children with Down Syndrome" was developed and modified by authors and needs to be evaluated by measuring the knowledge level of parents of children with Down syndrome. The measurement conducted showed that there is a difference in the level of knowledge of parents before and after reading the electronic book "Tooth Injuries in Children with Down Syndrome."(AU)

Objetivo: Analisar o nível de conhecimento dos pais de crianças com Síndrome de Down antes e depois de lerem o livro eletrônico "Traumatismos Dentários em Crianças com Síndrome de Down". Material e Métodos: Este estudo foi conduzido em três escolas de necessidades especiais tipo C (destinadas a crianças com deficiência mental) em Jacarta e na Fundação POTADS, com 37 pais elegíveis. O livro e o questionário utilizados foram desenvolvidos e modificados a partir das diretrizes sobre lesões dentárias em crianças típicas, com consideração especial para crianças com Síndrome de Down. A validade e a confiabilidade foram testadas por meio de discussões com especialistas, dentistas e pais de crianças com Síndrome de Down. O conhecimento foi medido duas vezes, antes e depois da leitura do livro eletrônico por 10 minutos em cada etapa, utilizando o mesmo questionário. As pontuações totais foram categorizadas da seguinte forma: bom (12-15), razoável (9-11) e ruim (0-8). A diferença nas pontuações de conhecimento foi testada estatisticamente. Resultados: A média da pontuação total antes e depois da leitura foi de 6,62 (ruim) e 10,51 (razoável), respectivamente. A diferença na pontuação foi estatisticamente significativa (p=0,001) usando o teste T pareado. Conclusão: O livro eletrônico "Traumatismos Dentários em Crianças com Síndrome de Down" foi desenvolvido e modificado pelos autores e precisa ser avaliado medindo o nível de conhecimento dos pais de crianças com Síndrome de Down. A medição realizada mostrou que há uma diferença no nível de conhecimento dos pais antes e depois de lerem o livro eletrônico "Traumatismos Dentários em Crianças com Síndrome de Down"(AU)

Análisis de la danza como herramienta educativa para el alumnado con Síndrome de Down: revisión narrativa / Analysis of dance as an educational tool for students with Down Syndrome: narrative review / Análise da dança como ferramenta educativa para alunos com Síndrome de Down: revisão narrativa

Resumen La danza es una actividad físico-deportiva y artística idónea para el desarrollo integral del alumnado y puede considerarse como promotora de inclusión. Por ello, el objetivo de este estudio fue realizar una revisión narrativa relacionada con los beneficios que aporta la danza en el alumnado con Síndrome de Down (SD) en la etapa de educación infantil. Para realizar la búsqueda de los documentos, se emplearon las palabras clave: "Child Education", "Dance" y "Down Syndrome". Los manuscritos fueron buscados en las bases de datos Web of Science, Scopus, SPORTDiscus y PubMed, hasta enero de 2023. Para ajustar la búsqueda al objeto de estudio, se estableció una serie de criterios de inclusión: i) cualquier tipo de documento científico relacionado con la temática; ii) manuscritos que indiquen, en el cuerpo del texto, al menos una descripción de los alumnos con SD de una longitud mínima de 50 palabras; iii) documentos realizados en inglés, español y/o portugués; y, iv) manuscritos que permitan obtener el texto completo; se obtuvo un total de 9 documentos. Los resultados mostraron una escasez de documentos en relación con el ámbito de estudio, como consecuencia de ser una temática muy específica. Asimismo, los manuscritos incluidos en esta revisión reportan que los beneficios que podrían obtenerse de la danza para el alumnado con SD están relacionados con la conciencia y el control postural, la mejora de aspectos sociales y mejoras a nivel cognitivo y emocional, así como el disfrute. Por ello, se recomienda ampliar el número de investigaciones futuras relacionadas con la danza en el sistema educativo y, concretamente, en la etapa de educación infantil, debido a los múltiples beneficios que aporta al alumnado con discapacidad.

Abstract Dance is a physical/sports and artistic activity appropriate to the comprehensive development of students, and can be considered as a means to promote inclusion. Thus, the objective of this study was to carry out a narrative review related to the benefits of dance in students with Down Syndrome (DS) in the child education stage. In order to carry out the search of documents, the keywords "Child Education", "Dance", and "Down Syndrome" were used. Manuscripts were searched in the Web of Science, Scopus, SPORTDiscus and PubMed data bases, up to January, 2023. In order to adjust the search of the object of study, a series of inclusion criteria was established: i) any type of scientific document relating to the topic; ii) manuscripts indicating, within the text body, at least one description of the students with DS that is at least 50 words in length; iii) documents written in English, Spanish and/or Portuguese; and iv) manuscripts that allow to obtain the full text. A total 9 documents were obtained. The results showed a scarcity of documents concerning the domain of study, as a result of this being a very specific topic. Similarly, the manuscripts included in this review report that the benefits that could derive from dance for students with DS have to do with posture awareness and control, the improvement of social aspects and improvements of a cognitive and emotional nature, as well as enjoyment. Therefore, it is recommended to expand the number of future research projects related to dance in the educational system, and concretely in the child education stage, due to the multiple benefits this brings to students with disabilities.

Resumo A dança é uma atividade físico-esportiva e artística idônea para o desenvolvimento integral dos alunos e pode ser considerada como promotora de inclusão. Portanto, este estudo teve como objetivo realizar uma revisão narrativa relacionada aos benefícios que a dança proporciona aos alunos com Síndrome de Down (SD) na etapa da educação infantil. Para busca dos documentos foram utilizadas as palavras-chave: "Child Education", "Dance" e "Down Syndrome". Os manuscritos foram pesquisados nas bases de dados Web of Science, Scopus, SPORTDiscus e PubMed, até janeiro de 2023. Para adequar a busca ao objeto de estudo, foi estabelecida uma série de critérios de inclusão: i) qualquer tipo de documento científico relacionado ao tema; ii) manuscritos que indiquem, no corpo do texto, pelo menos uma descrição de alunos com SD com extensão mínima de 50 palavras; iii) documentos elaborados em inglês, espanhol e/ou português; e, iv) manuscritos que permitam a obtenção do texto completo; foram obtidos um total de 9 documentos. Os resultados mostraram escassez de documentos em relação à área de estudo, por se tratar de um tema muito específico. Da mesma forma, os manuscritos incluídos nesta revisão mostram que os benefícios que poderiam ser obtidos com a dança para alunos com SD estão relacionados à consciência e ao controle postural, à melhoria dos aspectos sociais e às melhorias no âmbito cognitivo e emocional, bem como ao prazer. Portanto, recomenda-se ampliar o número de pesquisas futuras relacionadas à dança no sistema educacional e, especificamente, na etapa da educação infantil, pelos múltiplos benefícios que traz aos alunos com deficiência.

Supervisión de salud de niños/as con Síndrome de Down realizado por enfermera, desde la mirada de sus cuidadores / Caregivers' perspectives about the health supervision of children with Down Syndrome carried out by a nurse

INTRODUCCION: Los niños con Síndrome de Down (SD) y sus cuidadores requieren de una atención de salud multidisciplinaria que responda a sus necesidades desde una perspectiva integral. OBJETIVO: conocer las experiencias y expectativas que tienen los cuidadores de niños con SD en relación con los cuidados brindados por la enfermera durante el control de supervisión de salud infantil. METOLOGÍA: Estudio cualitativo fenomenológico, muestra intencionada de casos por criterios conformada por 11 cuidadores de niños con SD entre 0 y 9 años, que recibieron prestaciones en el Control de Salud Infantil. Se realizaron entrevistas semiestructuradas, los datos se analizaron siguiendo el esquema de reducción progresiva. Contó con la aprobación de la Dirección de Carrera de Enfermería, Universidad Santo Tomás (Temuco-Chile) (Acta 07-2018). RESULTADOS: se generaron dos categorías: "Experiencia de atención otorgada por la enfermera" y "Expectativas vinculadas a la atención proporcionada por la enfermera", se develó que los cuidadores de niños con SD perciben que los cuidados brindados por la enfermera durante la atención son insuficientes en relación con las necesidades que estos niños presentan. Esto estaría vinculado con la falta de conocimientos sobre esta condición y su abordaje integral. Con respecto a sus expectativas, refieren necesidad de acompañamiento, apoyo, educación y de profesionales de enfermería capacitados. CONCLUSIONES: urge abordar las brechas con respecto a las competencias del profesional de enfermería que realiza controles de salud del niño para poder entregar una atención de calidad a ellos y sus familias.

INTRODUCTION: Children with Down Syndrome (DS) and their caregivers require multidisciplinary health care that meets their needs from a comprehensive perspective. OBJECTIVE: to know the experiences and expectations that caregivers of children with DS have concerning the care provided by the nurse in the Child Health Supervision Attention. METHOD: A qualitative phenomenological study was conducted, an intentional sample of cases by criteria made up of 11 caregivers of children with DS between 0 and 9 years of age, who received benefits at the Child Health Control. Semi-structured interviews were carried out; the data were analyzed following the progressive reduction scheme. It had the approval of the Nursing Career Department, Santo Tomás University (Temuco-Chile) (Acta 07-2018). RESULTS: two categories were generated: "Experience of care provided by the nurse" and "Expectations linked to the care provided by the nurse", it was revealed that caregivers of children with DS perceive that the care provided by the nurse during the control is insufficient with the children's needs also, data showed a link to the lack of knowledge about this condition and its comprehensive approach. Regarding their expectations, they report the need for accompaniment, support, and education from the nurse, in addition to being a trained professional. CONCLUSION: It is urgent to address the gaps regarding the competencies of the nursing professional who performs child health checks to deliver quality care to them and their families.