We will also underline the possible impact of this complex situation on children and caregivers.
In order to achieve this goal, it is important to have a good definition of feeding problems, which will be discussed first. This article aims to help to unravel the complex situation of feeding problems (which may in itself constitute a complex problem) and energy requirements, due to the disease itself or comorbidity. However, whenever possible we will primarily review the literature on NS and our own experiences. Moreover, several interesting articles include patients with a different NSSD without making a clear distinction between them, as was the case in the publications on this topic published before the first causing gene ( PTPN11) was found in 2001. This is not only because of the phenotypical similarity but also because of the fact that some genes may be responsible for more than one NSDD. For several reasons, 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. For this reason, this narrative review will focus on these topics. However, several aspects of feeding problems and energy expenditure, which may influence growth and well-being, have received less attention. Growth problems in NS have received much attention, as can be illustrated by the fact that growth was one of the criteria in the scoring system of van der Burgt. 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). The clinical presentation is extremely variable. The most prevalent syndrome is NS (OMIM 163950). These syndromes are caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway. Noonan syndrome (NS) belongs to the group of Noonan syndrome spectrum disorders (NSSD), which is a group of phenotypically related conditions. This warrants a multidisciplinary intervention including psychology, nutrition, medicine, speech language pathology and occupational therapy. 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.
Many of the underlying mechanisms are still unknown.
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. Feeding problems in general improve faster in children with a pathogenic PTPN11 or SOS1 variant. 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. More than 50% of infants with NS develop feeding problems, and up to half of these infants will be tube-dependent for some time. We describe the different aspects of feeding problems using a (theoretical) concept proposed in 2019. Feeding problems are often present not only in infancy but also in childhood, and even beyond that period.
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