<scp>CHARGE</scp> syndrome gastrointestinal involvement: from mouth to anus

Hudson, Alexandra; Macdonald, Meghan; Friedman, Jeremy; Blake, Kim

doi:10.1111/cge.12892

Cited by 15 publications

(20 citation statements)

References 40 publications

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“…Outcomes for individuals with CHARGE syndrome are typically significantly worse than for those with 22q11.2 DS (Michielon et al, ), suggesting additional factors that separate these syndromes likely influence the clinical course. There are key differences between CHARGE and 22q11.2 DS in terms of the types of airway malformations (e.g., choanal atresia, vascular rings, and tracheobronchomalacia), feeding difficulties, and involvement of cranial nerves IX and X which can impart particular morbidity and mortality among CHARGE patients (K. Blake et al, ; Corsten‐Janssen, Kerstjens‐Frederikse, et al, ; Corsten‐Janssen, Saitta, et al, ; Corsten‐Janssen et al, ; Hudson, Macdonald, Friedman, & Blake, ; Stack & Wyse, ). In combination, these create a particularly high risk of postoperative airway events and aspiration, especially after cardiac surgery (Blake et al, ).…”

Section: Clinical Impact Of Charge On Chd Outcomementioning

confidence: 99%

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Meisner

Martin

2019

American J of Med Genetics Pt C

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CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities). De novo mutations of chromodomain helicase DNA binding protein 7 (CHD7) are the primary cause of CHARGE syndrome. The clinical phenotype is highly variable including a wide spectrum of congenital heart defects. Here, we review the range of congenital heart defects and the molecular effects of CHD7 on cardiovascular development that lead to an over‐representation of atrioventricular septal, conotruncal, and aortic arch defects in CHARGE syndrome. Further, we review the overlap of cardiovascular and noncardiovascular comorbidities present in CHARGE and their impact on the peri‐operative morbidity and mortality in individuals with CHARGE syndrome.

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Section: Clinical Impact Of Charge On Chd Outcomementioning

confidence: 99%

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Meisner

Martin

2019

American J of Med Genetics Pt C

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“…CHARGE syndrome is characterized by craniofacial defects such as orofacial clefting, cranial nerve anomalies and ear deformities (Hsu et al, ; Hudson, Macdonald, Friedman, & Blake, ). Most of these phenotypes are known to be associated with defects in cranial neural crest cell development (Kurosaka, Trainor, Leroux‐Berger, & Iulianella, ; Trainor, ).…”

Section: Charge Syndromementioning

confidence: 99%

“…Several neurocristopathies which also exhibit CA are described in this section in order to show their phenotypic correlations and the possible relationship between defects in neural crest cell development and CA. 2 | CHARGE SYNDROME CHARGE syndrome is characterized by craniofacial defects such as orofacial clefting, cranial nerve anomalies and ear deformities (Hsu et al, 2014;Hudson, Macdonald, Friedman, & Blake, 2016). Most of these phenotypes are known to be associated with defects in cranial neural crest cell development (Kurosaka, Trainor, Leroux-Berger, & Iulianella, 2015;Trainor, 2010).…”

Section: Neurocristopathymentioning

confidence: 99%

“…Mutations in CHD7 are present in 90-95% of CHARGE syndrome patients (Hsu et al, 2014). CHARGE syndrome frequently includes CA, with the occurrence of CA being as high as 65% in patients with this syndrome (Hsu et al, 2014;Hudson et al, 2016), and a mouse model in which Chd7 is mutated also exhibits malformed primitive choanae (Bosman et al, 2005). Interestingly, various animal model investigations have revealed indispensable roles for Chd7 in multiple aspects of neural crest cell development (Asad et al, 2016;Bajpai et al, 2010;Micucci et al, 2014;Schulz et al, 2014).…”

Section: Neurocristopathymentioning

confidence: 99%

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Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies

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“…Another study in the UK that examined infants with CHARGE syndrome found that troubles with constipation caused a need for medication, enemas, and even mechanical stimulation with a rectal probe (Anderzén-Carlsson, 2015). Causes of constipation in this genetic disorder are multifactorial, including abnormal innervation of the GI tract, gastrostomy and jejunostomy tube feeding, a diet limited in texture and food type, as well as maladaptive behaviors around toileting (Hudson, Trider, & Blake, 2017;Hudson, Macdonald, Friedman, & Blake, 2017;Macdonald, Hudson, Ratcliffe, Bladon, & Blake, 2016). Furthermore, children with CHARGE syndrome who are tube fed have been found to have significantly more problems with constipation than those who are orally fed .…”

Section: Constipationmentioning

confidence: 99%

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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CHARGE syndrome gastrointestinal involvement: from mouth to anus

Cited by 15 publications

References 40 publications

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Choanal atresia and stenosis: Development and diseases of the nasal cavity

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

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