Young children with Noonan syndrome: evaluation of feeding problems
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ORIGINAL ARTICLE
Young children with Noonan syndrome: evaluation of feeding problems Jos M. T. Draaisma 1
&
Joris Drossaers 1 & Lenie van den Engel-Hoek 2 & Erika Leenders 3 & Joyce Geelen 1
Received: 26 February 2020 / Revised: 21 April 2020 / Accepted: 23 April 2020 # The Author(s) 2020
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.
Keywords Noonan syndrome . Early onset feeding problems . Late onset feeding problems . Gastroesophageal reflux disease . Dysphagia
Editorial Responsibility: Peter de Winter * Jos M. T. Draaisma [email protected] Joris Drossaers [email protected]
1
Radboud Institute for Health Sciences, Amalia Children’s Hospital, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands
2
Donders Institute for Brain, Cognition and Behaviour, Department of Rehabilitation, Radboud University Medical Center, Nijmegen, The Netherlands
3
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Lenie van den Engel-Hoek [email protected] Erika Leenders [email protected] Joyce Geelen [email protected]
Eur J Pediatr
Introduction Noonan syndrome (NS) is a well-known congenital disorder with an estimated incidence of 1:1.000–2.500 live births [1]. NS is characterized by a short stature, typical facial dysmorphism and a wide spectrum of congenital heart defects [2–5]. NS is caused by germline mutations in the Rasmitogen-activated protein kinase (RAS/
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