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

Result code in 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>
Alternative codes found
RIV/61989592:15410/24:73628887
Result on the web
<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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Result language
angličtina
Original language name
Feeding Difficulties in a Newborn with Coffin-Siris Syndrome - A Case Study
Original language description
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.
Czech name
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Czech description
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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