Young children with Noonan syndrome: evaluation of feeding problems

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.

Feeding Problems in Patients with Noonan Syndrome: A Narrative Review

“…However, in a more recent article, it was mentioned that the feeding difficulties usually resolve in the first few years of life [16]. In our study of 108 patients, we found a major improvement of the feeding problems between the ages of 1 to 2 years in patients with feeding problems in infancy, with only a minority still having feeding problems after the age of 2 years [15].…”

“…In our study, children with a pathogenic gene variant other than PTPN11 and SOS1 had significantly more feeding problems in the first year [15]. In Table 1, the prevalence of feeding problems of infants with NS due to the most prevalent pathogenic gene variants is given.…”

“…However, feeding problems may also develop after the age of one year. Fifteen percent of the children in our study developed feeding problems after the age of one year [15]. Most of these children developed feeding problems in the 1-2 years age group, one child developed them in the 2-4 years age group, and four children developed them in the 4-6 years age group.…”

“…Gastro-oesophageal reflux disease and delayed gastric emptying were documented in 44% of children with feeding problems by Shah et al [11]. We documented gastroesophageal reflux disease as a presumed or proven cause in more than two-thirds of infants with feeding problems [15]. Delayed gastric emptying may exacerbate any tendency to gastroesophageal reflux disease [11].…”

“…More than half of these infants (59%) were tube-dependent. In a more recent study of 108 children, the prevalence of feeding problems in the first year was 52%, and more than half of these infants were tube-dependent [15].…”