Feeding difficulties and foregut dysmotility in Noonan's syndrome

Shah, Neil; Rodríguez, M; Louis, Deepak; Lindley, Keith; Milla, Peter J.

doi:10.1136/adc.81.1.28

Cited by 57 publications

(64 citation statements)

References 10 publications

(7 reference statements)

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“…As far as we know, esophageal stenosis related to functional movement anomaly in patient 2 had not been reported so far. It is worth noting that foregut dysmotility and delayed gastrointestinal motor development can occur in patients with NS [38].…”

Section: Discussionmentioning

confidence: 99%

Costello syndrome: clinical diagnosis in the first year of life

et al. 2007

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We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and try to outline the clinical characteristics facilitating early recognition of this syndrome, which can now be corroborated by testing the HRAS gene. Phenotypical overlap of CS with Noonan (NS) and cardiofaciocutaneous syndrome (CFCS), particularly in neonatal age, is well known. Diagnostic features useful for recognition of CS in the first year of life are the following: (1) fetal and neonatal macrosomia with subsequent slow growth due to severe feeding difficulties, (2) developmental delay, (3) particularly coarse facial dysmorphisms and gingival hyperplasia, (4) skeletal anomalies as osteoporosis and metaphyseal enlargement, (5) hypertrophic cardiomyopathy (HCM) with asymmetric septal thickening and systolic anterior motion of the mitral valve, and (6) specific atrial arrhythmias. Following a clinical suspect of CS based on specific features, molecular screening of HRAS gene mutations should precede analysis of the other genes in the Ras-MAPK pathway implicated in related disorders with overlapping phenotypes.

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Section: Discussionmentioning

confidence: 99%

Costello syndrome: clinical diagnosis in the first year of life

et al. 2007

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“…Significant feeding difficulties affect about 75 % of children with NS (e.g., poor suck/swallow, gagging, reflux, recurrent vomiting, food refusal, and intestinal dysmotility) and often generate referrals to a speechlanguage pathologist or feeding specialist (Shah et al 1999;Romano et al 2010). Parent reports of adaptive functioning indicate that expressive language skills tend to develop more slowly than receptive language skills in infants and preschool children with NS (Pierpont et al 2010b).…”

Section: Speech and Languagementioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS is caused by gene mutations in a cellular signaling pathway that is essential for typical growth and development. Research in the past few decades has revealed that individuals with NS have highly variable neurocognitive and behavioral outcomes. To a certain extent, variability in cognitive functioning depends on the particular gene where a mutation is found; additionally, factors related to medical severity and environmental effects contribute substantially to outcomes. This article contains a systematic review of research on neuropsychological features of NS, including cognition, motor development, language, memory, attention, visual perception, adaptive behavior, social skills, and mental health concerns. Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. Suggested considerations for assessment of individuals with NS are provided. The paper concludes with recommendations for educational and therapeutic interventions, as well as suggestions for future research directions.

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“…Feeding problems are noted in the majority of affected infants and can cause failure to thrive [Shah et al, 1999]. For some patients, the inadequacy in oral intake may be severe enough to necessitate placement of gastrostomy tubes, although occupational/feeding therapy is an adequate intervention for most.…”

Section: Clinical Featuresmentioning

confidence: 99%

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

2010

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Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeletal defects, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition to hematologic malignancies during childhood. NS is caused by mutations in the PTPN11, SOS1, KRAS, RAF1, BRAF and MEK1 (MAP2K1) genes, accounting for approximately 70% of affected individuals. SHP2 (encoded by PTPN11), SOS1, BRAF, RAF1 and MEK1 positively contribute to RAS-MAPK signaling, and possess complex autoinhibitory mechanisms that are impaired by mutations. Similarly, reduced GTPase activity or increased guanine nucleotide release underlie the aberrant signal flow through the MAPK cascade promoted by most KRAS mutations. More recently, a single missense mutation in SHOC2, which encodes a cytoplasmic scaffold positively controlling RAF1 activation, has been discovered to cause a closely related phenotype previously termed Noonan-like syndrome with loose anagen hair. This mutation promotes aberrantly acquired N-myristoylation of the protein, resulting in its constitutive targeting to the plasma membrane and dysregulated function. PTPN11, BRAF and RAF1 mutations also account for approximately 95% of LEOPARD syndrome, a condition which resembles NS phenotypically but is characterized by multiple lentigines dispersed throughout the body, café-au-lait spots, and a higher prevalence of electrocardiographic conduction abnormalities, obstructive cardiomyopathy and sensorineural hearing deficits. These recent discoveries demonstrate that the substantial phenotypic variation characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved.

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Feeding difficulties and foregut dysmotility in Noonan's syndrome

Cited by 57 publications

References 10 publications

Costello syndrome: clinical diagnosis in the first year of life

Costello syndrome: clinical diagnosis in the first year of life

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

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