Relationship between deletion size and language impairment in Phelan McDermid Syndrome: Systematic Review.

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Published: Dec 12, 2021
DOI: https://doi.org/10.17060/ijodaep.2021.n2.v2.2231
Keywords:
Phelan-McDermid syndrome rare disease size of the deletion 22q13 deletion language and revision

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Miriam Vicente-Martínez
Universidad de Murcia, Murcia, España
Dolores María Peñalver-García
Universidad de Murcia, Murcia, España Grupo de Investigación Educación, Diversidad y Calidad

Abstract

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.

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How to Cite
Vicente-Martínez, M., & Peñalver-García, D. M. (2021). Relationship between deletion size and language impairment in Phelan McDermid Syndrome: Systematic Review. International Journal of Developmental and Educational Psychology. Revista INFAD De Psicología., 2(2), 245–256. https://doi.org/10.17060/ijodaep.2021.n2.v2.2231
Issue
Vol. 2 No. 2 (2021): LEARNING IN A POSITIVE MOOD: THE RESPONSE TO COVID-19
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Articles
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