CONGENITAL HEART DISEASE AND NEURODEVELOPMENT: WILLIAMS SYNDROME (WS)

Authors

  • María de Lourdes Huiracocha Tutiven Doctor en Medicina y cirugía. Especialista en Pediatría. Doctor in Social Sciences. Hospital Vicente Corral Moscoso. Universidad de Cuenca. Facultad de Ciencias Médicas. Carrera de Medicina. Cuenca – Azuay - Ecuador. https://orcid.org/0000-0001-5638-1867
  • Glen Newell Negocios y gestión. Cuenca – Azuay - Ecuador. https://orcid.org/0009-0005-1273-6845
  • Andrea Estefanía Marín Cordero Licenciada en Fisioterapia. Hospital Vicente Corral Moscoso. Cuenca – Azuay – Ecuador. https://orcid.org/0009-0009-4334-6400
  • Jéssica Dayanna Bermeo Serrano Estudiante de la carrera de Fisioterapia. Universidad de Cuenca. Cuenca – Azuay - Ecuador. https://orcid.org/0009-0000-2368-1804
  • Mariela Cecilia Calderón Siguencia Estudiante de la carrera de Fonoaudiología. Universidad de Cuenca. Cuenca – Azuay - Ecuador.
  • Kwan Yin Estefanía Espinoza Alcalá Licenciada en Fonoaudiología. Hospital Vicente Corral Moscoso. Cuenca – Azuay - Ecuador. https://orcid.org/0009-0008-7500-0458
  • Mónica Marlene Mogrovejo Barros Egresada de la carrera de Estimulación Temprana. Universidad de Cuenca. Hospital Vicente Corral Moscoso. Cuenca – Azuay - Ecuador. https://orcid.org/0009-0004-2698-8114
  • Johanna Lucía Campoverde Vizhñay Licenciada en Terapia Física. Magister en Neurorehabilitación. Universidad de Cuenca. Facultad de Ciencias Médicas. Carrera de Fisioterapia. Cuenca – Azuay - Ecuador. https://orcid.org/0000-0001-6058-9433

DOI:

https://doi.org/10.18537/RFCM.41.02.08

Keywords:

Williams Syndrome, in situ hybridization fluorescence, neurologic examination

Abstract

ABASTRACT 

Introduction: Identification of rare genetic diseases in children under 5 years of age such as WS has two routes, screening for Global Developmental Delay (GDD) or identification of major dysmorphies and malformations such as heart disease. The physician should be educated in this screening process.

Case presentation: 5-year-old boy with severe thinness and SW facial features, severe supravalvular aortic stenosis with aortic arch hypoplasia, GDD, food selectivity, neurological alterations and oropharyngeal dysphagia. Diagnosis: high suspicion of SW, genetics requests the confirmatory test, called FISH test. Therapeutic plan: cardiological treatment. Neurodevelopmental intervention plan: development of activities of daily living, improvement of communication skills, introduction of new foods in textures and flavors, optimization of independence in mobilization, periodic evaluations and strengthening of parental competences.

Conclusion: The involvement of the medical and neurodevelopmental team completes the criteria for the clinical diagnosis of WS. The neurodevelopmental team should work on optimizing functioning for activities of daily living.

Keywords: children, Williams syndrome, global developmental delay, case report.

 

 

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Published

2023-10-04

Issue

Vol. 41 No. 2 (2023): Revista de la Facultad de Ciencias Médicas de la Universidad de Cuenca

Section

Clinical Case

License

Copyright (c) 2023 Lourdes Huiracocha-Tutivén, Glen Newell, Andrea Estefanía Marín Cordero, Jéssica Dayanna Bermeo Serrano, Mariela Cecilia Calderón Siguencia, Kwan Yin Estefanía Espinoza Alcalá, Mónica Marlene Mogrovejo Barros, Johanna Lucía Campoverde Vizhñay

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