INTRODUCTION:Small intestinal atresia (SIA) consists of a congenital obstruction of the lumen of the duodenum, jejunum, or ileum with varying severity. The aim of the investigation was to analyze the prevalence and mortality of SIA, using data from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). METHODS:Data on SIA cases were collected from 25 ICBDSR members' surveillance programs in 17 countries over 1974-2015. All pregnancy outcomes were included, but terminations of pregnancy were not available for 11 programs. Statistical analysis is descriptive, and the prevalence is established by the total of SIA cases divided by the total of births. The survival time was calculated, and mortality was analyzed individually using the Kaplan-Meier method for comparison. RESULTS:The total prevalence of SIA was 2.1 per 10,000 births. Iran had the highest prevalence with 11.5 per 10,000 total births (95% CI: 9-14.1); on the other hand, the lowest prevalence of SIA was in Mexico-Nuevo Leon with 0.5 per 10,000 births (95% CI: 0.3-0.8), and Cali-Colombia had zero cases. In South America, a higher prevalence of SIA was estimated compared to what was reported in 2000. Most deaths occurred between Day 2 and 6, except in Bogotá-Colombia, Spain, UK-Wales, and Mexico, where the deaths occurred on Day 1. The mortality in the first year was 4.3%, but the specific causes of death were not determined in this study. CONCLUSION:The prevalence of SIA was about 2.1 per 10,000 births during a 41-year period in 25 centers, with variations in prevalence according to geographical locations. Future research is suggested to analyze changes in trends and the impact of early diagnosis and treatment in mortality.

Antecedentes: Las infecciones gestacionales que llevan al desarrollo de infecciones prenatales, son un importante problema de salud pública, especialmente en países en vía de desarrollo, ya que los agentes etiológicos pueden afectar el desarrollo fetal y por ende asociarse con discapacidad y muerte fetal. Objetivos y Métodos: Determinar la asociación entre las infecciones gestacionales y el desarrollo de defectos congénitos (DC). Se realizó un estudio analítico de casos y controles, con análisis de variables cualitativas y cuantitativas con datos recolectados por el Programa de Vigilancia y Seguimiento de Anomalías Congénitas de Bogotá D.C. (PVSACB) incluyendo información autorreferida por las madres y recolectada a través de la ficha ECLAMC en 23 hospitales de Bogotá D.C. durante el periodo 2001-2018. Resultados: Se registraron en total 474 699 nacimientos en la cuidad de Bogotá D.C. con 4 220 casos y un total de 5 771 controles (relación 1:1.36); incluyendo recién nacidos cuyas madres estuvieron expuestas o no a infecciones durante el embarazo. Se encontró que las infecciones bacterianas se asocian con DC en el sistema craneofacial (OR: 1.45-IC:0.82-2.57), osteomuscular (OR:1.21-IC:1.06-1.41), nervioso (OR:1.45-IC:1.14-1.84), región oral (OR:1.51-IC:1.14-2.0) y renal (OR:1.26-IC:0.93-1.71). Las de origen viral se asocian con los sistemas osteomuscular (OR:3.18-IC:1.78-5.69), nervioso (OR:2.42-IC:1.03-5.68), región oral (OR:1.67-IC:0.52-5.41) y renal (3.95-IC:1.67-9.33). Conclusiones: Encontramos que las infecciones gestacionales que más mas relacionadas con DC fueron bacterianas y virales. Las infecciones maternas genitourinarias y respiratorias fueron las más frecuentes. Es importante profundizar en la asociación de infecciones por agente etiológico y el desarrollo de DC con el fin de establecer estrategias para el manejo materno oportuno que permitan reducir una de las principales causas de morbimortalidad infantil en el país.

Introducción: la tetralogía de Fallot (TF) es una anomalía congénita cardiovascular con una prevalencia global de 3.56 casos por 10,000 nacidos vivos (NV), según Liu et. al en el 2019. Objetivo: determinar la prevalencia y describir los casos de TF en Bogotá, Colombia entre el 2015 y el 2021. Método: se realizó un estudio retrospectivo de corte transversal, con datos obtenidos del Sistema nacional de vigilancia en salud pública (SIVIGILA). Los casos fueron definidos como el total de NV con TF, con un peso al nacer mayor a 500 g. Resultados: la prevalencia estimada para la TF fue de 2.21 (IC: 1.85-2.61) casos por 10 000 NV, con un total de 137 casos. La prevalencia máxima se observó en el 2015, con una tasa de 1.26 (IC: 0.67-2.18) por 10 000 NV. La media de peso al nacer fue de 2575.9 g (DE 660.5), con una media de edad gestacional al nacer de 35.85 semanas (DE 3.95). La media de edad materna fue de 29.1 años (DE 7.05). Se observó una tasa de mortalidad de 17.51%. Se halló que el 10.95% de los casos no se encontraban afiliados al sistema de salud. Se identificaron casos de síndrome de Down (n = 9) y Edwards (n = 4). Conclusiones: la prevalencia de TF en Bogotá fue inferior a la reportada en estimaciones globales existentes; sin embargo, se observó un aumento en la prevalencia con respecto a estimaciones previas en la ciudad, atribuible a mejoras en el sistema de vigilancia.

Background: Transposition of the great vessels (TGV) is a congenital heart defect characterized by ventriculoarterial discordance, leading to cyanosis and hypoxemia. Globally, TGV accounts for 4 % of all congenital heart defects (CHD), but regional differences in prevalence are noted. Objectives: The objective of this study was to characterize the prevalence, epidemiology, and associated factors of TGV in Bogota and Cali, Colombia. Methods: A retrospective case-control study design was used to analyze data from the Congenital Defects and Orphan Diseases Surveillance System (PREVERDEC). The study included 62 TGV cases identified among 552,841 births during the study period. Controls (n = 248) were selected as live births without congenital anomalies, matched by birth date and healthcare institution. Data were analyzed using descriptive statistics and bivariate analysis to assess risk factors, with odds ratios (OR) and 95 % confidence intervals (CI) calculated for maternal, neonatal, and socioeconomic variables. Results: The overall prevalence of TGV was 1.10 per 10,000 live births (95 % CI 0.84-1.42). Male newborns represented 54.84 % of cases, and TGV was prenatally detected in 33.87 % of cases. Associated factors included low birth weight (62500 g, OR: 5.51, 95 % CI 2.64-11.52) and preterm birth (637 weeks, OR: 7.37, 95 % CI 3.29-16.48). No associations were found with gestational diabetes or maternal age over 35 years. Conclusion: The prevalence of TGV in Bogota and Cali was higher than national estimates, highlighting regional variations. Improvements in prenatal diagnostic techniques and maternal care are essential to reduce mortality and improve outcomes in affected infants.

Introduction:Birth defects are a leading cause of neonatal mortality worldwide, particularly in low- and middle-income countries. In Latin America, longitudinal studies on BD prevalence and mortality remain limited. Objectives:To describe BD epidemiology in Bogotá and Cali (2002-2019), focusing on prevalence, in-hospital mortality, and associated maternal and neonatal factors. Methods:We conducted a retrospective, population-based cohort study using PREVERDEC surveillance data from 558 057 births, following Latin American Collaborative Study of Congenital Malformations (ECLAMC) methodology. BD prevalence was expressed per 10 000 live births, and Cox regression identified mortality risk factors. Results:BD prevalence was 126.8 (95% CI: 123.9-129.8) per 10 000 live births, with musculoskeletal anomalies most common. Neonatal mortality was 0.26 per 1000 live births. Mortality risk was higher in preterm infants, those with major BD, and circulatory system defects. Conclusion:This study provides updated evidence on BD in Colombia, highlighting risk factors for adverse outcomes.

Clubfoot is a common musculoskeletal congenital abnormality, with a prevalence of 5–20 cases per 10 000 live births in low to middle-income countries. If left untreated, clubfoot causes severe consequences for the child: gait disturbances, reduced quality of life, and limited work opportunities. Our objective was to characterize clubfoot and determine its prevalence and associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with clubfoot, while controls consisted of infants without congenital abnormalities, matched in terms of birth date and hospital. Prevalence was calculated considering a 95% confidence interval using Poisson distribution, and risk factors were assessed through adjusted odds ratios obtained by logistic regression model. Of 558 255 births, 861 cases of clubfoot were identified, 48.20% were postural clubfoot, and 15 cases were syndromic clubfoot. In Bogota, prevalence rate was 15.1 per 10 000 live births, whereas in Cali it was 17.29 per 10 000 live births. Family history of clubfoot within first-degree relatives was identified as a risk factor for clubfoot. Investigating risk factors for clubfoot holds significant importance in terms of preventing and reducing morbidity within this population. Helping to drive government and healthcare initiatives aimed at providing timely and effective treatment.

BACKGROUND:Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. METHODS:A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval. RESULTS:Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives. CONCLUSION:These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.

Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

OBJECTIVE:CHDs correspond to 28% of all congenital anomalies, being the leading cause of infant mortality in the first year of life. Thus, it is essential to explore risk factors for CHDs presentation, allowing the detection of probable cases within a population.METHODS:We identified newborns with CHDs within a cohort from the Program for the Prevention and Monitoring of Congenital Defects in Bogota and Cali, 2002-2020. Cases were classified as isolated, complex isolated, polymalformed, and syndromic. Variables were analysed by comparing case and control averages with Student's t test using a 95% confidence level.RESULTS:Prevalence obtained was 19.36 per 10 000 live births; non-specified CHD, ventricular septal defect, and atrial septal defect were the most prevalent. As risk factors were found: paternal and maternal age above 45 years, pregestational diabetes, mother's body mass index above 25, low educational level, and socio-economic status. As protective factors: folic acid consumption within the first trimester and pregestational period.CONCLUSION:Different risk and protective factors associated with the presentation of CHDs have been described. We consider that public health strategies should be aimed to reduce risk factors exposure. Also, improving diagnosis and prognosis by having a close monitoring on high-risk patients.

Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population. Methods: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe+ (includes Iran), Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb-body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age. Results: Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European(+) prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European(+), four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic. Conclusions: Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.

Antecedentes: La fenilcetonuria (PKU), es un error innato del metabolismo secundario a un defecto del metabolismo hepático de la fenilalanina. Su acumulación afecta principalmente el sistema nervioso central, generando discapacidad cognitiva y alteración comportamental importante. Tema: El diagnóstico temprano, mediante el cribado neonatal, permite modificar la historia natural de la enfermedad y brindar un adecuado asesoramiento genético. Conclusión: Los autores damos una revisión al estado actual de la patología y el tamizaje neonatal en Colombia, así como los retos en el seguimiento y manejo de estos pacientes diagnosticados temprana o tardíamente.

INTRODUCTION:Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern.OBJECTIVE:To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition.MATERIALS AND METHODS:case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multi-gene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed.RESULTS:9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%).CONCLUSION:In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Objective:To analyze the reports of orphan diseases in Bogotá, in order to describe the epidemiological profile, based on the cases reported to the Public Health System (Sivigila), from January 2019 to March 2022. Methods:A descriptive and cross-sectional study was carried out in which the cases reported to Sivigila in Bogotá were analyzed in the period between January 2019 and March 2022. Absolute and relative frequencies, frequency distribution and prevalences and averages of different variables were calculated. notified in the notification sheets. Results:From January 2019 to March 2022, 10,399 patients with orphan diseases have been notified to Sivigila in Bogotá, of which 56.25% (5,849) are female and 43.75% (4,550) are female. male sex. 87.10% (9,060) of the cases belong to the contributory regime. The town with the highest number of reports was Suba with 15.85% (1,294). The most reported orphan diseases were: multiple sclerosis with 13.1% (1,363), amyotrophic lateral sclerosis with 4.04% (421) and Guillain-Barre syndrome with 3.6% (374). A patient with an orphan disease in Bogotá takes 61.3 months on average from the beginning of their symptoms to obtaining a diagnosis (SD 101.9). Conclusions:From the notification to Sivigila in Bogotá, compared to the global prevalence, there is an under-registration of patients with orphan diseases and the delay in the diagnosis of these diseases is evident.

Purpose: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown.Methods: We performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro.Results: We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals from 3 additional kindreds with microtia-CFM spectrum phenotypes harboring damaging variants in FOXI3, a regulator of ectodermal and neural crest development. Missense variants in the nuclear localization sequence were identified in cases with isolated microtia with aural atresia and found to affect subcellular localization of FOXI3. Loss of function variants were found in patients with microtia and mandibular hypoplasia (CFM), suggesting dosage sensitivity of FOXI3.Conclusion: Damaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.(c) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Objective:To identify the barriers in health care in patients with visual and auditory congenital defects (CD) treated through the Comprehensive Care Program for Families with Orphan Diseases with Visual and/or Auditory Compromise (AIVA), in Bogotá D. C., Colombia. Materials and Methods:Cross-sectional study carried out in 58 children diagnosed with CD with possible visual or auditory compromise. The study population was selected from the AIVA program database, and to obtain the data, parents or legal representatives were asked to take the children for an initial medical evaluation and answer an interview. The barriers were classified according to Tanahashi's effective coverage model and the data were analyzed using descriptive statistics; absolute and relative frequencies were calculated for the qualitative variables, and means and standard deviations or medians and interquartile ranges (according to the distribution of the data determined with the Shapiro-Wilk test) for the quantitative variables. Results:81.03% of parents or legal representatives expressed at least one barrier, the most frequent being availability (49.38%), followed by accessibility (32.24%), acceptability (11.83%) and contact (6.53%). Conclusion:The majority of parents or legal representatives interviewed reported barriers to accessing health services. Given that these have a negative impact on the health of children with CI, joint interventions are required to reduce them and thus guarantee better health conditions in children with CI and auditory or visual impairment.

Background: Birth defects (BD) occur in 3-6 % of live births (LB) and constitute significant morbimortality and disability. Some BD of the gastrointestinal (GI) tract requires surgical interventions during the first days of life. Knowing the prevalence in different city areas could guide decision-makers in developing public policies that guarantee timely attention. This study aims to determine the prevalence of 7 GI defects in LB in Bogota, Colombia, and to explore factors related to their occurrence. Methods: We conducted an analytical cross-sectional observational study based on data from the BD database of the Public Health Surveillance System (PHSS) of Bogota between 2015 and 2021, using all available records where BD of the GI tract was reported. We performed descriptive analyses in Jamovi and correlation analyses in SPSS. Results: We included 869 cases in the study. GI defects occurred more frequently in males (50.5 %). Esophageal atresia was the BD most frequently reported (25.9 %), followed by gastroschisis and anorectal malformation (19 %). GI defects are more frequent in the city's center-east area of Bogota. The prevalence of GI defects in Bogota during the period studied was 14.2 per 10,000 LB. Of the LB with GI defects, 93.8 % had low socioeconomic status. Conclusions: The results of this study point to the importance of centralizing neonatal surgical care services for these pathologies in the sub-network that serves this population. Prenatal care, housing conditions, and substance use in the home were related to a higher prevalence of GI defects.

Background The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer’s disease. Here, we report three patients with frontotemporal dementia (FTD) from three unrelated families with heterozygous p.H157Y variant of TREM2: two patients from Colombian families (study 1) and a third Mexican origin case from the USA (study 2). Methods To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups—a healthy control group (HC) and a group with FTD with neither TREM2 mutations nor family antecedents (Ng-FTD and Ng-FTD-MND). Results The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology. Conclusion In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of TREM2 gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments.

Objetivo Identificar las barreras en la atención de la salud en pacientes con defectos congénitos (DC) visuales y auditivos atendidos mediante el Programa de Atención Integral a Familias con Enfermedades Huérfanas con Compromiso Visual y/o Auditivo (AIVA), en Bogotá D. C., Colombia. Materiales y Métodos Estudio transversal realizado en 58 niños con diagnóstico de DC con posible compromiso visual o auditivo. La población de estudio se seleccionó de la base de datos del programa AIVA, y para la obtención de los datos se les solicitó a los padres o representantes legales llevar a los niños a una valoración médica inicial y responder una entrevista. Las barreras se clasificaron según el modelo de cobertura efectiva de Tanahashi y los datos se analizaron mediante estadística descriptiva; se calcularon frecuencias absolutas y relativas para las variables cualitativas, y medias y desviaciones estándar o medianas y rangos intercuartílicos (según la distribuciún de los datos determinada con la prueba Shapiro-Wilk) para las cuantitativas. Resultados El 81,03% de los padres o representantes legales manifestaron al menos una barrera, siendo las más frecuentes las de disponibilidad (49,38%), seguidas de las de accesibilidad (32,24%), aceptabilidad (11,83%) y contacto (6,53%). Conclusión La mayoría de los padres o representantes legales entrevistados reportaron barreras de acceso a los servicios de salud. Dado que estas repercuten de forma negativa en la salud de los niños con DC, se requieren intervenciones conjuntas para reducirlas y así garantizar mejores condiciones de salud en los niños con DC y compromiso auditivo o visual.