First‐year growth in children with Noonan syndrome: Associated with feeding problems?

Croonen, Ellen A.; Draaisma, J. M. T.; Burgt, Ineke van der; Roeleveld, Nel; Noordam, C.

doi:10.1002/ajmg.a.38649

Cited by 10 publications

(13 citation statements)

References 32 publications

(79 reference statements)

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“…We could not study growth as a consequence of the feeding problems, due to inappropriate data. However, in an earlier study with another design, we showed that children with Noonan syndrome and feeding problems were clearly lighter Table 2 The course of early feeding problems in genemutation positive Noonan children Category, category of feeding problem; No restrict, oral diet without restrictions; With restrict, oral diet with restrictions; Tube, tube-dependent feeding and shorter and had a clinically relevant lower weight and length SDS at the age of 1 than children without feeding problems [16].…”

Section: Discussionmentioning

confidence: 83%

“…Moreover, symptoms of the existing feeding problems were not always clearly documented, and the cause of the feeding problems was often not studied extensively. The scoring system used in the literature could not be used due to the retrospective design [10,16]. For this reason, we used the validated Functional Oral Intake Scale [12,13].…”

Section: Discussionmentioning

confidence: 99%

“…Shaw et al published in 2007 that 65% of children with clinically diagnosed NS experienced feeding problems in the first months of life, of which 36% were tube-dependent [ 11 ]. The most recent study on this subject, from Croonen et al, described feeding problems in 56% of children younger than 1 year old with clinically and genetically proven Noonan syndrome [ 16 ]. More than half of these children (59%) were tube-dependent.…”

Section: Discussionmentioning

confidence: 99%

“…We could not study growth as a consequence of the feeding problems, due to inappropriate data. However, in an earlier study with another design, we showed that children with Noonan syndrome and feeding problems were clearly lighter and shorter and had a clinically relevant lower weight and length SDS at the age of 1 than children without feeding problems [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

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Young children with Noonan syndrome: evaluation of feeding problems

Draaisma¹,

Drossaers²,

Engel-Hoek

et al. 2020

Eur J Pediatr

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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.

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Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…We could not study growth as a consequence of the feeding problems, due to inappropriate data. However, in an earlier study with another design, we showed that children with Noonan syndrome and feeding problems were clearly lighter and shorter and had a clinically relevant lower weight and length SDS at the age of 1 than children without feeding problems [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Young children with Noonan syndrome: evaluation of feeding problems

Draaisma¹,

Drossaers²,

Engel-Hoek

et al. 2020

Eur J Pediatr

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“…Concerning postnatal growth, it usually follow a channel that is below, but parallel to the third percentile during infancy and childhood (12,13). Even though deregulation of the RAS/MAPK pathway may explain this scenario, other factors may be involved, such as feeding problems (15) or a history of cardiac surgery. Patients with NS exhibit slow bone maturation and delayed puberty, which is associated with a limited pubertal growth spurt, leading to progressive growth retardation (16).…”

Section: Growth Delay In Noonan Syndromementioning

confidence: 99%

Etiology and Treatment of Growth Delay in Noonan Syndrome

2021

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Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. Longitudinal growth during childhood and adolescence depends on several factors, among them an intact somatotrophic axis, which is characterized by an adequate growth hormone (GH) secretion by the pituitary, subsequent binding to its receptor, proper function of the post-receptor signaling pathway for this hormone (JAK-STAT5b and RAS/MAPK), and ultimately by the production of its main effector, insulin like growth factor 1 (IGF-1). Several studies regarding the function of the somatotrophic axis in patients with Noonan syndrome and data from murine models, suggest that partial GH insensitivity at a post-receptor level, as well as possible derangements in the RAS/MAPK pathway, are the most likely causes for the growth failure in these patients. Treatment with recombinant human growth hormone (rhGH) has been used extensively to promote linear growth in these patients. Numerous treatment protocols have been employed so far, but the published studies are quite heterogeneous regarding patient selection, length of treatment, and dose of rhGH utilized, so the true benefit of GH therapy is somewhat difficult to establish. This review will discuss the possible etiologies for the growth delay, as well as the outcomes following rhGH treatment in patients with Noonan syndrome.

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Clinical overview on RASopathies

Zenker

2022

American J of Med Genetics Pt C

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RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan syndrome-like disorder with loose anagen hair are part of the RASopathy spectrum and share a recognizable pattern of multisystem involvement. This review describes the "Noonan syndrome-like" phenotype as a common phenotypic signature of generalized developmental RAS pathway dysregulation. Distinctive features of the different entities are revisited against the background of the understanding of underlying genetic alterations and genotype correlations, which has evolved rapidly during the past 20 years, thereby leading to suggestions regarding the nosology of RASopathies. K E Y W O R D S cardiofaciocutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome-like disorder with loose anagen hair 1 | INTRODUCTION The term "RASopathies" was coined in 2009 (Tidyman & Rauen, 2009). It denotes a group of clinically overlapping multisystem disorders that share a common molecular pathogenesis in that the underlying genetic variations affect components or modulators of the RAS-MAPK signaling cascade and lead to dysregulation of signal flow through this pathway. No generally accepted definition and definitive delineation of RASopathies exist, so far. The major classes of disorders that have been grouped under this umbrella term are summarized in Table 1. This clinical overview is focused on Noonan syndrome (NS; MIM #PS163950) and the less frequent, clinically related disorders, Costello syndrome (CS; MIM #218040), cardiofaciocutaneous syndrome (CFCS: MIM #PS115150), Noonan syndrome with multiple lentigines (NSML; MIM #151100), Noonan syndrome-like disorder with loose anagen hair (NSLH; MIM #PS607721), collectively referred to in the following as "Noonan syndrome-like RASopathies (NS-like RASopathies)." They represent disorders that are caused by a mild to moderate and generalized constitutional RAS pathway dysregulation (Figure 1a) and have a multisystem phenotype. Based on the current pathogenetic concepts and understanding it can be concluded that the "NS-like" clinical picture represents the common phenotypic signature of a systemic RAS pathway dysregulation that starts in the embryonic period. This notion is supported by the fact that all genes known to cause NS-like RASopathies encode for components or modulators of the RAS-MAPK signaling cascade. However, this does not mean that disturbed signaling through MAPKs as the sole effectors can explain all the organ-specific pathophysiology. In fact, cellular pathways are interconnected and abnormal signaling in one of them

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First‐year growth in children with Noonan syndrome: Associated with feeding problems?

Cited by 10 publications

References 32 publications

Young children with Noonan syndrome: evaluation of feeding problems

Young children with Noonan syndrome: evaluation of feeding problems

Etiology and Treatment of Growth Delay in Noonan Syndrome

Clinical overview on RASopathies

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