Relación entre el tamaño de deleción y afectación del lenguaje en síndrome de Phelan-McDermidrevisión sistemática

  1. Vicente-Martínez, Miriam 1
  2. Peñalver-García, Dolores María 2
  1. 1 Universidad de Murcia, Murcia, España
  2. 2 Universidad de Murcia, Murcia, España Grupo de Investigación Educación, Diversidad y Calidad
Aldizkaria:
International Journal of Developmental and Educational Psychology: INFAD. Revista de Psicología

ISSN: 0214-9877

Argitalpen urtea: 2021

Zenbakien izenburua: LEARNING IN A POSITIVE MOOD: THE RESPONSE TO COVID-19

Alea: 2

Zenbakia: 2

Orrialdeak: 245-256

Mota: Artikulua

DOI: 10.17060/IJODAEP.2021.N2.V2.2231 DIALNET GOOGLE SCHOLAR lock_openSarbide irekia editor

Beste argitalpen batzuk: International Journal of Developmental and Educational Psychology: INFAD. Revista de Psicología

Garapen Iraunkorreko Helburuak

Laburpena

Background and aims: The Phelan-McDermid syndrome is a rare disease with an unknown prevalence produced by a neurodevelopmental disorder which causes the loss in the function of the SHANK3 gene, entailing a great variety of clinic symptoms, mostly linguistic alterations, and even been absent in a large number of subjects. The following revision consisted in a systematic review, whose main objective focused on assessing the existence of a correlation between the size of the 22q13 deletion, and the development or affectation of the language in subjects between 0 and 55 years old, suffering from the Phelan-McDermid syndrome. Method: for the completion of the following paper, research was conducted on the matter of fact in articles published on PubMed, Medline, Cochrane Plus, Psycinfo and Google Scholar, between 2010 and March 2020. Finally, this systematic revision was conducted with the content of the complete text of 8 articles. Results: the results indicated the existence, on a significant scale, of a correlation between the size of the 22q13 deletion and language the absence or disruption in patients with the Phelan-McDermid syndrome. Conclusions: not with standing, it is required from further research on the topic to determine and understand such correlation in-depth.

Erreferentzia bibliografikoak

  • Canonero, I., Montes, C., Sturich, A., Boterón, M., Asinari, M., Cuestas, E., y Rossi, N. (2012). Síndrome de Phelan McDermid: descripción de cinco pacientes e informe del primer caso descripto en gemelas siamesas. Archivos argentinos de pediatría, 110(3), 50-54.
  • Costales, J. L., & Kolevzon, A. (2015). Phelan–McDermid syndrome and SHANK3: implications for treatment. Neurotherapeutics, 12(3), 620-630.
  • Cusmano Ozog, K., Manning, M. A., & Hoyme, H. E. (2007). 22q13. 3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 45(4), 393-398.
  • Dhar, S. U., Del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., ... Grebe, T. A. (2010). 22q13. 3 deletion syndrome: clinical and molecular analysis using array CGH. American journal of medical genetics Part A, 152(3), 573-581.
  • Droogmans, G., Swillen, A., & Van Buggenhout, G. (2019). Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome. Molecular Syndromology, 10(6), 294-305.
  • Hernández, M., Meléndez, R., Ramírez, E., y Mayén, D. G. (2018). Síndrome de Phelan-McDermid: reporte de un caso y revisión de la literatura. Acta pediátrica de México, 39(1), 42-51.
  • Kolevzon, A., Angarita, B., Bush, L., Wang, AT, Frank, Y., Yang, A., ... Edelmann, LJ (2014). Síndrome de Phelan-McDermid: una revisión de la literatura y los parámetros de práctica para la evaluación y monitoreo médico. Revista de trastornos del neurodesarrollo, 6 (1), 39.
  • Oberman, L. M., Boccuto, L., Cascio, L., Sarasua, S., & Kaufmann, W. E. (2015). Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet journal of rare diseases, 10(1), 105.
  • Phelan, K., & McDermid, H. E. (2011). The 22q13. 3 deletion syndrome (Phelan-McDermid syndrome). Molecular syndromology, 2(3-5), 186-201.
  • Phelan, M. C. (2008). Deletion 22q13. 3 syndrome. Orphanet journal of rare diseases, 3(1), 14.
  • Ponson, L., Gomot, M., Blanc, R., Barthelemy, C., Roux, S., Munnich, A., ... Bonnet-Brilhault, F. (2018). 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype. Translational psychiatry, 8(1), 1-8.
  • Samogy-Costa, CI, Varella-Branco, E., Monfardini, F., Ferraz, H., Fock, RA, Barbosa, RHA., ... Krepischi, A. (2019). Una cohorte brasileña de individuos con síndrome de Phelan-McDermid: correlación genotipo-fenotipo e identificación de un caso atípico. Revista de trastornos del neurodesarrollo, 11 (1), 13.
  • Sarasua, S. M., Boccuto, L., Sharp, J. L., Dwivedi, A., Chen, C. F., Rollins, J. D., ... DuPont, B. R. (2014). Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome. Human genetics, 133(7), 847-859.
  • Sarasua, S. M., Dwivedi, A., Boccuto, L., Chen, C. F., Sharp, J. L., Rollins, J. D., ... DuPont, B. R. (2013). 22q13. 2q13. 32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome. Genetics in Medicine, 16(4), 318-328.
  • Sarasua, S. M., Dwivedi, A., Boccuto, L., Rollins, J. D., Chen, C. F., Rogers, R. C., ... Collins, J. S. (2011). Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome). Journal of medical genetics, 48(11), 761-766.14
  • Soorya, L., Kolevzon, A., Zweifach, J., Lim, T., Dobry, Y., Schwartz, L., ... Halpern, D. (2013). Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Molecular autism, 4(1), 18.
  • Soorya, L., Leon, J., Trelles, M. P., & Thurm, A. (2018). Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. The Clinical Neuropsychologist, 32(7), 1226-1255.
  • Zwanenburg, R. J., Ruiter, S. A., van den Heuvel, E. R., Flapper, B. C., & Van Ravenswaaij-Arts, C. M. (2016). Developmental phenotype in Phelan-McDermid (22q13. 3 deletion) syndrome: a systematic and prospective study in 34 children. Journal of neurodevelopmental disorders, 8(1), 16
Datuen iturria: Dialnet