Health‐related Quality of Life and the Impact of Childhood Neurologic Disability Scale were collected for 53 patients with CHARGE syndrome aged 13–39 years with a mean academic level of 4th grade. The most prevalent new and ongoing issues included bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. Sleep issues were significantly correlated with anxiety, self‐abuse, conduct problems, and autistic‐like behaviors. Problems with overall health, behavior, and balance most affected the number of social activities in the individual's life. Sensory impairment most affected relationships with friends. Two contrasting case studies are presented and demonstrate that the quality of life exists on a broad spectrum in CHARGE syndrome, just as its physical features range from mild to very severe. A multitude of factors, including those beyond the physical manifestations, such as anxiety and sleep problems, influence quality of life and are important areas for intervention. © 2016 Wiley Periodicals, Inc.

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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CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities. Over 90% of children need tube feeding early in their life and many experience weak sucking/chewing, gastroesophageal reflux disease (GERD), and aspiration. The mainstay of treatment thus far has consisted of feeding therapy, GERD medications, Nissen fundoplication, gastrostomy/jejunostomy, and food texture limitation. Owing to the multitude of severe medical issues associated with this genetic disorder, GI involvement is often overlooked. Here, we report on five patients with CHARGE syndrome who manifested a range of severe GI and feeding difficulties.

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