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Órgano de difusión oficial del Instituto Materno Infantil del Estado de México

2023, Number 1

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Arch Inv Mat Inf 2023; 14 (1)

Epidemiological profile of patients with Down syndrome at the Hospital Materno Infantil ISSEMyM from 2014 to 2021

Jaramillo MCY, Martín DSMD

Language: Spanish
References: 27
Page: 13-21
PDF size: 241.77 Kb.


ABSTRACT

Introduction: Down syndrome, or trisomy 21, is the most frequent cause of intellectual disability of genetic etiology, which is why it leads the number of pediatric patient consultations in this specialty, as well as in multiple subspecialties due to the large amount of comorbidities that accompany this disease. Objective: to establish the epidemiological profile of the patient with Down syndrome at the Hospital Materno Infantil del ISSEMyM of Toluca, Mexico from 2014 to 2021. Material and methods: a descriptive, retrospective and observational case series study that analyzed records of patients diagnosed with Down syndrome from 2014 to 2021. Results: 144 records of patients, 71 patients were men and 73 women. 133 (92%) clinically diagnosed at birth. 109 (75%) had a karyotype, 97 (89%) of them correspond to a regular trisomy, 8 (7%) Mosaic and 4 (3%) Translocation. It was observed that the maternal age which had the highest prevalence was between 35 to 39 years (30%) of all mothers, followed by the age of 30 to 34 years with 25%. 100% of the patients studied have a follow-up with more than one subspecialty. 53% of patients presented some congenital heart disease (patent ductus arteriosus, atrial septal defect and ventricular septal defect) and hypothyroidism (12%) being the most frequent comorbidities, followed by neurodevelopmental delay, pneumopathies and ophthalmopathies. Conclusions: there are 144 active patients with Down syndrome in the HMI whose diagnoses have been confirmed early by karyotype. Most of these patients have comorbidities, such as heart diseases and endocrinopathies, among others, that warrant close monitoring by different subspecialties, which is carried out in a timely manner in a tertiary hospital like the one studied.


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