What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause
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Abstract
A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms.
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Sociedad Argentina de Pediatría. Comité de Crecimiento y Desarrollo. Guía para el seguimiento del desarrollo infantil en la práctica pediátrica [Guide for monitoring children's development in pediatric practice]. Arch Argent Pediatr. 2017;115(3):s53-s62. https://doi.org/10.5546/aap.2017.s53. DOI: https://doi.org/10.5546/aap.2017.304
Soto Insuga V, González Alguacil E, García Peñas JJ. Detección y manejo del retraso psicomotor en la infancia. Pediatr Integral. 2020; 24(6):303-315.
Asociación Española de Psiquiatría del Niño y del Adolescente. Trastornos generalizados del desarrollo. Protocolo 2008. Madrid: AEPNYA; 2008.
Hervás A, Maristany M, Salgado M, et al. Los trastornos del espectro autista. Pediatr Integral. 2012;16(10):780-794.
González Lajas JJ, García Cruz JM. Trastornos del lenguaje y la comunicación. En: AEPap, editors. Congreso de Actualización Pediatría 2019. Madrid: Lúa Ediciones 3.0; 2019. p. 569-577.
Mervis CB, Morris CA, Klein-Tasman BP, et al. 7q11.23 Síndrome de duplicación. 25 de noviembre de 2015 [actualizado el 25 de marzo de 2021]. En: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): Universidad de Washington; 1993-2021.
Morris CA, Mervis CB, Paciorkowski AP, et al. 7q11.23 Duplication syndrome: physical characteristics and natural history. Am J Med Genet A. 2015;167A(12):2916-2935. https://doi.org/10.1002/ajmg.a.37340. DOI: https://doi.org/10.1002/ajmg.a.37340
Somerville MJ, Mervis CB, Young EJ, et al. Retraso severo del lenguaje expresivo relacionado con la duplicación del locus de Williams-Beuren. Nuevo Ing J Med. 2005;353:1694-1701. DOI: https://doi.org/10.1056/NEJMoa051962
Van der Aa N, Rooms L, Vandeweyer G, et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet. 2009;52(2-3):94-100. https://doi.org/10.1016/j.ejmg.2009.02.006. DOI: https://doi.org/10.1016/j.ejmg.2009.02.006
Strong E, Butcher DT, Singhania R, et al. Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23. Am J Hum Genet. 2015;97(2):216-227. https://doi.org/10.1016/j.ajhg.2015.05.019 DOI: https://doi.org/10.1016/j.ajhg.2015.05.019