Dificultades en el lenguaje en un primer infante con el diagnóstico del síndrome PACS1: Reporte de caso
Date
2024-02-05
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Pontificia Universidad Católica del Perú
Abstract
La presente investigación tiene como objetivo dar a conocer las dificultades en el
lenguaje en un primer infante con el diagnóstico del síndrome pacs1 o también llamado
Schuurs-Hoeijmakers.
Esta investigación tiene como eje de estudio a un infante de 1 año 8 meses, fruto del
matrimonio de una peruana y un suizo, el cual es el tercer hijo de 3 hermanos. El
paciente de la presente investigación será identificado con el pseudónimo “Luis” y fue
diagnosticado con el síndrome de Schuurs-Hoeijmakers.
Para la evaluación del lenguaje se usaron 2 instrumentos distintos, el primero de ellos es
el Inventario del desarrollo comunicativo MacArthur y el segundo el CSBS DP.
Cuestionario del Bebé y Niño Pequeño, los cuales proporcionaron información verídica de
la situación de los 5 componentes del lenguaje, siendo el más afectado el componente
fonético fonológico puesto que el menor aún no presenta habla y este retraso afecta a
otros componentes en la parte expresiva. Si bien el caso actual tiene habilidades como la
parte comprensiva, el hecho de no tener la parte expresiva desarrollada afecta
significativamente sus funciones comunicativas.
Según la literatura, uno de los rasgos característicos del síndrome de SchuursHoeijmakers es la hipotonía, esto afectaría directamente al lenguaje, pues al presentar
flacidez es más compleja la formulación de emisiones con sentido.
The aim of this thesis is to know language difficulties in a toddler with a diagnosis of pacs1 syndrome or also called Schuurs-Hoeijmakers. The purpose of this research has its axis of study a toddler of 1 year and 8 months, his parents came from a Peruvian girl and a Swiss, he is their child. The name of the patient in this research will be identified with the pseudonym “Luis” and he had the diagnosed syndrome Schuurs-Hoeijmakers. For this language assessment were used two different instruments. The first was being the MacArthur Communication Development Inventory and second was being the CSBS DP. Baby and Young Child Questionnaire, which provided true information on the situation of the 5 language components, the most affected was the phonological phonetic component since the minor still does not present speech and this affects other components in the communication skill. While the current case has skills such as the sympathetic way, the fact of not having the expressive part developed significantly affects its communicative functions. According to the literature, one of the characteristic features of Schuurs-Hoeijmakers syndrome is hypotonia, which would directly affect language, the formulation of meaningful emissions is more complex with flaccidity.
The aim of this thesis is to know language difficulties in a toddler with a diagnosis of pacs1 syndrome or also called Schuurs-Hoeijmakers. The purpose of this research has its axis of study a toddler of 1 year and 8 months, his parents came from a Peruvian girl and a Swiss, he is their child. The name of the patient in this research will be identified with the pseudonym “Luis” and he had the diagnosed syndrome Schuurs-Hoeijmakers. For this language assessment were used two different instruments. The first was being the MacArthur Communication Development Inventory and second was being the CSBS DP. Baby and Young Child Questionnaire, which provided true information on the situation of the 5 language components, the most affected was the phonological phonetic component since the minor still does not present speech and this affects other components in the communication skill. While the current case has skills such as the sympathetic way, the fact of not having the expressive part developed significantly affects its communicative functions. According to the literature, one of the characteristic features of Schuurs-Hoeijmakers syndrome is hypotonia, which would directly affect language, the formulation of meaningful emissions is more complex with flaccidity.
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Keywords
Trastornos del habla en niños, Niños--Lenguaje, Fonología
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