Aspiration in children with CHARGE syndrome

White, David R.; Giambra, Barbara K.; Hopkin, Robert J.; Daines, Cori; Rutter, Michael J.

doi:10.1016/j.ijporl.2005.03.030

Cited by 40 publications

(41 citation statements)

References 14 publications

(24 reference statements)

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“…However, the sample size and the prevalence of major and minor characteristics of CHARGE syndrome observed in our study population were similar to those reported previously in the literature [3,6,28]. Furthermore, the nature and prevalence of feeding difficulties found in our study population were very similar to previously reported findings of individuals with CHARGE syndrome [9,29,30]. While our results indicate a reduction of tube feeding and feeding difficulties with age, findings of persistent difficulty with oral feeding at 12-13 years of age are similar to those of Blake and Brown [29] who reported difficulty weaning onto solid foods in 84% of their study population.…”

Section: Discussionsupporting

confidence: 91%

Feeding Difficulties in Children with CHARGE Syndrome: Prevalence, Risk Factors, and Prognosis

et al. 2007

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Children with CHARGE syndrome frequently experience long-term and complex feeding difficulties. This study investigated the prevalence and nature of feeding difficulties in a population of 39 children with CHARGE syndrome and explored the relationship between the clinical characteristics of the syndrome and feeding development. Information was collected via a survey (two questionnaires) completed by the parents. One questionnaire, the Pediatric Assessment Scale for Severe Feeding Problems, provided an objective measure of the current severity of feeding difficulties. Results of the survey indicated a high prevalence of long-term feeding issues in this population. Approximately 90% of the children had received tube feeding at some point in time. In contrast to previous literature, choanal atresia and heart malformations were not found to be significantly related to a higher severity of feeding difficulty or associated with long-term tube feeding. Cranial nerve dysfunction was found to be the primary clinical feature of CHARGE syndrome impacting feeding development, reflected in a high prevalence of weak sucking/chewing, swallowing difficulty, gastroesophageal reflux, and aspiration. The presence of these conditions in infancy suggests the likelihood of long-term feeding difficulty and warrants the ongoing attention of feeding specialists.

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Section: Discussionsupporting

confidence: 91%

Feeding Difficulties in Children with CHARGE Syndrome: Prevalence, Risk Factors, and Prognosis

et al. 2007

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“…Patients with CHARGE association often present cranial nerve palsies, laryngeal and pharyngeal incoordination, and impaired oesophageal peristalsis [5,14,19]. In Noonan syndrome, foregut dismotility was demonstrated by electrogastrography and antroduodenal manometry [16].…”

Section: Introductionmentioning

confidence: 99%

Assessment of dysphagia in infants with facial malformations

et al. 2008

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In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns other than isolated Pierre Robin sequence had: (1) needle electromyography (EMG) of muscles of the face, tongue, and soft palate; (2) two-channel EMG during bottle feeding; and (3) esophageal manometry (EM). The results were compared by clinical dysphagia-grading groups and by age at cessation of enteral feeding. Although micrognathia (86%) and cleft or high-arched palate (76%) were common, the key clinical finding that correlated with the likelihood of respiratory complications was glossoptosis (p<0.01). EMG signs of denervation correlated with respiratory complications (p<0.05) and the duration of enteral feeding (p<0.01). EMG during bottle feeding showed disturbed motor organization at the pharyngeal level in 27 of 37 patients. The severity of pharyngeal incoordination correlated with the duration of enteral feeding (p<0.025). All 21 patients examined by EM had dysfunction at the esophageal level. Thus, in the assessment of upper digestive tract dysfunction, our clinical grading system, EMG, and EM yield convergent information that is relevant to the management of dysphagic infants with facial malformations. Much of the information is obtainable only from EMG.

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“…A previous study found that 60% (n = 18/30) of individuals with CHARGE syndrome had aspiration confirmed by endoscopy, with 80% (n = 24/30) having abnormal swallowing, evidenced by pooling of secretions, poor food bolus mobility, and laryngeal dyscoordination (White, Giambra, Hopkin, Daines, & Rutter, 2005). Recurrent pneumonias should be a clue that leads to investigations (e.g., swallow and feeding studies) for aspiration.…”

Section: Aspirationmentioning

confidence: 97%

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe

Blake

Hudson

2017

American J of Med Genetics Pt C

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CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation.The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria. Over 90% of individuals experience feeding and gastrointestinal dysfunction, which carries great morbidity and mortality. The aim of this review is to examine the nature of gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome, focusing on their underlying pathology, associated investigations, and available treatment options. We also provide information on available tools (for parents, clinicians, and researchers) that are important additions to the lifelong healthcare management of every individual with CHARGE syndrome. We review how cranial nerve dysfunction is one of the most important characteristics underlying the pervasive GI and feeding dysfunction, and discuss the need for future research on gut innervation and motility in this genetic disorder. trachea-eosophageal fistula, developmental delay) contribute directly to feeding and GI issues, highlighting the pervasiveness of these dysfunctions (Blake et al., 1998;Verloes, 2005). The structural anomalies, motor impairment, and oral sensory impairment all contribute to these issues, and are all potential treatment targets.The aim of this review is to comprehensively summarize the existing literature on the nature of GI and feeding dysfunction in CHARGE syndrome, including the pathophysiology, symptomology, and treatment options. | METHODSAn electronic systematic search was conducted via PubMed using the following search terms: CHARGE syndrome and GI, feeding, reflux, or cranial nerve. There were no restrictions placed on article type or year of publication. Titles and abstracts were reviewed for relevance.Reference lists of identified articles were reviewed for inclusion of any additional relevant articles. The articles were summarized and divided into type of feeding or GI problem, from mouth to anus. The original list of articles was then reappraised to identify any missing topics. | RESULTSNinety-seven articles were identified using the search strategy. Titles and abstracts were screened for relevance to the topic and any duplicates, which resulted in the exclusion of 49 articles. The remaining 48 articles' reference lists were reviewed for additional relevant articles. A final total of 71 articles were included for review. Their findings are summarized below, from head-to-toe. Table 1 displays a summary of the phenotypic characteristics of CHARGE syndrome, FIGURE 1 A highlight of the multitude of factors contributing to gastrointestinal and feeding dysfunction in CHARGE syndrome FIGU...

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Aspiration in children with CHARGE syndrome

Cited by 40 publications

References 14 publications

Feeding Difficulties in Children with CHARGE Syndrome: Prevalence, Risk Factors, and Prognosis

Feeding Difficulties in Children with CHARGE Syndrome: Prevalence, Risk Factors, and Prognosis

Assessment of dysphagia in infants with facial malformations

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe

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