Abstract
Noonan syndrome (NS) belongs to the group of Noonan syndrome spectrum disorders (NSSD), which is a group of phenotypically related conditions. Feeding problems are often present not only in infancy but also in childhood, and even beyond that period. We describe the different aspects of feeding problems using a (theoretical) concept proposed in 2019. More than 50% of infants with NS develop feeding problems, and up to half of these infants will be tube-dependent for some time. Although, in general, there is a major improvement between the age of 1 and 2 years, with only a minority still having feeding problems after the age of 2 years, as long as the feeding problems continue, the impact on the quality of life of both NS infants and their caregivers may be significant. Feeding problems in general improve faster in children with a pathogenic PTPN11 or SOS1 variant. The mechanism of the feeding problems is complex, and may be due to medical causes (gastroesophageal reflux disease and delayed gastric emptying, cardiac disease and infections), feeding-skill dysfunction, nutritional dysfunction with increased energy demand, or primary or secondary psychosocial dysfunction. Many of the underlying mechanisms are still unknown. The treatment of the feeding problems may be a medical challenge, especially when the feeding problems are accompanied by feeding-skill dysfunction and psychosocial dysfunction. This warrants a multidisciplinary intervention including psychology, nutrition, medicine, speech language pathology and occupational therapy.
Highlights
Noonan syndrome (NS) belongs to the group of Noonan syndrome spectrum disorders (NSSD), which is a group of phenotypically related conditions
Other NSSDs are Noonan-like syndrome with loose anagen hair (NS-LAH; OMM 607721), Noonan syndrome with multiple lentigines (NSML; OMIM 151100), Noonan syndrome-like disorder (CBL; OMIM 613563), Costello syndrome (CS; OMIM 218040) and cardiofaciocutaneous syndrome (CFCS; OMIM 115,150) [1]
Feeding problems appear in more than 50% of infants with NS
Summary
Noonan syndrome (NS) belongs to the group of Noonan syndrome spectrum disorders (NSSD), which is a group of phenotypically related conditions. Several aspects of feeding problems and energy expenditure, which may influence growth and well-being, have received less attention. For this reason, this narrative review will focus on these topics. We have consciously chosen to describe the literature on the feeding problems of the total group of patients with NSSD, instead of only NS in this article. This is because of the phenotypical similarity and because of the fact that some genes may be responsible for more than one NSDD [1].
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