Journal: Drug Invention Today

Article Id: JPRS-Pcol-00002335
Title: Cognitive development in children with Prader–Willi syndrome
Category: Pharmacology
Section: Research Article
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    Aim: The article is devoted to the specificity of cognitive development in three children with Prader–Willi syndrome (PWS) in the period up to 6-year-old. The PWS is a rare hereditary disease caused by the absence of the father’s copy of the 15q11- 13 chromosome. Methods: Genomic imprinting is involved into the regulation of the genes in this area of chromosome 15. Diagnostic signs of this syndrome are muscular hypotension, hypogonadism, obesity, excessive adiposity, respiratory complications, mental retardation, small brushes and feet, dysplasia of the hip joints, and stigma of disembryogenesis. Currently, specific ways of treating people with this syndrome have not been developed. It is considered that children with PWS suffer from the retardation of cognitive development; however, there is a lack of scientific information about it. The study of PWS requires an interdisciplinary approach and the detailed description of cognitive development. Results: The results showed that in the period up to 6 years in three children with this rare syndrome the most obvious decline is registered predominantly in the development of impressive speech, and other functions do not suffer significantly in spite of the presence of impairments in motor development. Conclusion: The research was conducted at A. Yu. Ratner Pediatic Сlinical Hospital NO. 8 (Kazan, Russia) by the group of clinical linguists, neurologists, and speech therapists.

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    Author(s) Name:

    Ruzalina Shaykhutdinova1 , Elena Gorobets1 *, Rimma Gamirova1 , Nadezhda Eliseeva2,3

    Affiliation(s) Name:

    1 Department of Russian Language and Applied Linguistics, Kazan Federal University 18 Kremlyovskaya street Kazan 420008, Russian Federation,

    2 Dipartimento di Lingue e Letterature, Comunicazione, Formazione e Societa, University of Udine, Udine, Italy,

    3 Department of Russian Language and Applied Linguistics, Laboratory of Clinical Linguistics, Kazan Federal University, Kazan, Russia

    *Corresponding author: Elena Gorobets, Department of Russian Language and Applied Linguistics, Kazan Federal University 18 Kremlyovskaya street Kazan 420008, Russian

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    Author:

    Ruzalina Shaykhutdinova1 , Elena Gorobets1 *, Rimma Gamirova1 , Nadezhda Eliseeva2,3

    Title:Cognitive development in children with Prader–Willi syndrome
    Journal:Drug Invention Today
    Vol(issue):10 (July)
    Year:2018
    Page No: (1122-1124)
  • Experimental Methods Keywords

    Methodology:Assessment of cognitive functions
    Research Materials:Children with Prader

Keywords

Assessment of cognitive functions Clinical linguistics Developmental disorders Prader–Willi syndrome

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