Feeding Difficulties in a Newborn with Coffin-Siris Syndrome - A Case Study

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F24%3A00080349" target="_blank" >RIV/65269705:_____/24:00080349 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/61989592:15410/24:73628887

Výsledek na webu

<a href="https://zl.tnuni.sk/fileadmin/Archiv/2024/2024-12.c.1/ZL_2024_12_1_14_Cervenkova.pdf" target="_blank" >https://zl.tnuni.sk/fileadmin/Archiv/2024/2024-12.c.1/ZL_2024_12_1_14_Cervenkova.pdf</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Feeding Difficulties in a Newborn with Coffin-Siris Syndrome - A Case Study

Popis výsledku v původním jazyce

Coffin-Siris Syndrome (CSS) is a very rare genetic disorder. Although it has autosomal dominant inheritance, it is usually caused by de novo mutations. CSS is a clinically heterogeneous disorder, however, there are certain features considered to be characteristic for the disorder. These features include delayed psychomotor development, abnormalities of the fifth finger or toe, characteristic facial features, hypotonia of central origin, hirsutism/hypertrichosis, a sparse scalp, and a short stature. Individuals with the syndrome present with difficulties eating and dysphagia. The case study describes the course of Speech and language pathologist (SLP) care of a patient with CSS in the neonatal period during hospitalization. The aim of presenting the SLP diagnostic procedure and short-term therapeutic plan is to provide information in order to ensure safe oral intake of food in a child with CSS.

Název v anglickém jazyce

Feeding Difficulties in a Newborn with Coffin-Siris Syndrome - A Case Study

Popis výsledku anglicky

Coffin-Siris Syndrome (CSS) is a very rare genetic disorder. Although it has autosomal dominant inheritance, it is usually caused by de novo mutations. CSS is a clinically heterogeneous disorder, however, there are certain features considered to be characteristic for the disorder. These features include delayed psychomotor development, abnormalities of the fifth finger or toe, characteristic facial features, hypotonia of central origin, hirsutism/hypertrichosis, a sparse scalp, and a short stature. Individuals with the syndrome present with difficulties eating and dysphagia. The case study describes the course of Speech and language pathologist (SLP) care of a patient with CSS in the neonatal period during hospitalization. The aim of presenting the SLP diagnostic procedure and short-term therapeutic plan is to provide information in order to ensure safe oral intake of food in a child with CSS.

Druh

J_ost - Ostatní články v recenzovaných periodicích

CEP obor

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OECD FORD obor

30209 - Paediatrics

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Zdravotnícke listy

ISSN

1339-3022

e-ISSN

2644-4909

Svazek periodika

12

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

SK - Slovenská republika

Počet stran výsledku

5

Strana od-do

93-97

Kód UT WoS článku

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EID výsledku v databázi Scopus

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