Young children with Noonan syndrome: evaluation of feeding problems
نویسندگان
چکیده
منابع مشابه
Prevalence of Feeding Problems in Children with Intellectual Disability
Objectives: Feeding is an essential function which affects quality of life of the intellectually disabled (ID) persons. Approximately 80% of the severe and profound mentally retarded population have some feeding difficulties. This study aimed to determine the prevalence of feeding problems in children with ID. Methods: In this cross-sectional descriptive study, 144 individuals with Intellect...
متن کاملMalnutrition and Feeding Problems in Children with Esophageal Atresia
Introduction: Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is defined as a congenital malformation characterized with the interruption or obstruction of esophagus. Affected neonates may present with cyanosis during breast feeding, sialorrhea, coughing and difficulty in respiration. The defect should be corrected by surgery; otherwise, the condition ca...
متن کاملThe language phenotype of children and adolescents with Noonan syndrome.
PURPOSE This study presents an analysis of language skills in individuals with Noonan syndrome (NS), an autosomal dominant genetic disorder. We investigated whether the language impairments affecting some individuals arise from deficits specifically within the linguistic system or whether they are associated with cognitive, perceptual, and motor factors. Comparisons of language abilities among ...
متن کاملPragmatic language impairment in children with Noonan syndrome
Noonan syndrome (NS) is a disorder causing symptoms like short stature, characteristic facial features, congenital heart disease, possible mental retardation and pragmatic difficulties. This study describes the pragmatic skills in NS and discusses the linguistic profile of 17 informants aged 6-15 years, by comparing the participants' scores on the Children's Communication Checklist, 2nd Edition...
متن کاملHotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
OBJECTIVE To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had m...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2020
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s00431-020-03664-x