Gastroparese bei Noonan-Syndrom

Heimrich, Konstantin G.; Gühne, Falk; Schulz, Stefan; Mutschke, Stephanie; Stallmach, Andreas; Rüddel, Jessica

doi:10.1055/s-0042-121551

Cited by 3 publications

(3 citation statements)

References 24 publications

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“…So having Noonan syndrome could be an indirect factor of late onset feeding problems and children with NS might be prone to feeding problems that can be triggered by, for example, an infection. This is illustrated by the case report that delayed gastric emptying may even present for the first time during adulthood [22]. No children were diagnosed with celiac disease, although Quaio et al notify that physicians should be alerted to the possibility of autoimmune diseases, including celiac disease, in patients with NS [23].…”

Section: Discussionmentioning

confidence: 99%

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: 99%

Young children with Noonan syndrome: evaluation of feeding problems

Draaisma¹,

Drossaers²,

Engel-Hoek

et al. 2020

Eur J Pediatr

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“…As such, having NS can be an indirect factor of late-onset feeding problems triggered by, for example, an infection. This was illustrated by a case report which reported that delayed gastric emptying may even present for the first time during adulthood [23]. No child was diagnosed with celiac disease, although Quaio et al noted that physicians should be alert to the possibility of autoimmune diseases, including celiac disease, in patients with NS [24].…”

Section: Medical Dysfunction As a Cause Of Feeding Problemsmentioning

confidence: 99%

Feeding Problems in Patients with Noonan Syndrome: A Narrative Review

Tiemens¹,

Haaften

Leenders

et al. 2022

JCM

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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.

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“…Only ondansetron therapy, started when she was 5 years old, successfully treated vomiting . Heimrich et al (2017) described a case of a 27 years old NS patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis.…”

Section: Noonan Syndromementioning

confidence: 99%

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

Onesimo

Giorgio

Viscogliosi

et al. 2022

American J of Med Genetics Pt C

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Noonan, Costello, and cardio-facio-cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro-intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-faciocutaneous syndromes. Fifty percent of children with Noonan syndrome may experience feeding difficulties that usually have a spontaneous resolution by the second year of life, especially associated to genes different than PTPN11 and SOS1. More severe manifestations often require artificial enteral nutrition in infancy are observed in Costello syndrome, mostly associated to c.34G>A substitution in the HRAS gene.In cardio-facio-cutaneous syndrome feeding issues are usually present (90-100% of cases), especially in individuals carrying variants in BRAF, MAP2K1, and MAP2K2 genes, and artificial enteral intervention, even after scholar age, may be required.Moreover, disorders associated with gastrointestinal dysmotility as gastroesophageal reflux and constipation are commonly reported in all the abovementioned syndromes. Given the impact on growth and on the quality of life of these patients, early evaluation and prompt personalized management plans are fundamental.

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Gastroparese bei Noonan-Syndrom

Cited by 3 publications

References 24 publications

Young children with Noonan syndrome: evaluation of feeding problems

Young children with Noonan syndrome: evaluation of feeding problems

Feeding Problems in Patients with Noonan Syndrome: A Narrative Review

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

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