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- W3023756812 abstract "Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion : Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1 . Feeding problems develop most often in infancy and decrease with age. What is Known: • Young children with Noonan syndrome may have transient feeding problems. • Most of them will need tube feeding. What is New: • This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome. • Feeding problems most often develop in infancy and resolve between the age of 1 and 2." @default.
- W3023756812 created "2020-05-13" @default.
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- W3023756812 date "2020-05-11" @default.
- W3023756812 modified "2023-10-04" @default.
- W3023756812 title "Young children with Noonan syndrome: evaluation of feeding problems" @default.
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- W3023756812 doi "https://doi.org/10.1007/s00431-020-03664-x" @default.
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