Upper airway obstruction in neonates and infants with CHARGE syndrome

Naito, Yuji; Higuchi, Masataka; Koinuma, Goro; Aramaki, Michihiko; Takahashi, Tsuyoshi; Kosaki, Kenjiro

doi:10.1002/ajmg.a.31851

Cited by 23 publications

(14 citation statements)

References 24 publications

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“…5 In patients with micrognathia, as in CHARGE syndrome and Pierre Robin sequence, a definitive operation, such as mandibular distraction, tongue base reduction, or epiglottopexy, may help to prevent tracheostomy. 13 In the present series, SGP was successful in only 2 of 4 patients with CHARGE syndrome, with 2 of these patients ultimately requiring tracheostomy. Existing reports suggest that patients with Down syndrome do well with SGP in the absence of concomitant cardiac or neurologic diseases.…”

Section: Syndromic Comorbiditiesmentioning

confidence: 48%

Supraglottoplasty Outcomes in Neurologically Affected and Syndromic Children

Durvasula

Lawson

Bower

et al. 2014

JAMA Otolaryngol Head Neck Surg

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Section: Syndromic Comorbiditiesmentioning

confidence: 48%

Supraglottoplasty Outcomes in Neurologically Affected and Syndromic Children

Durvasula

Lawson

Bower

et al. 2014

JAMA Otolaryngol Head Neck Surg

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“…Structural defects such as a tracheoesophageal fistula can preclude normal swallowing early in life (Naito et al, 2007). This type of defects needs immediate surgical correction.…”

Section: Esophageal and Cardiac Structural Defectsmentioning

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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“…Bunlar larinksin antero-posterior düzleşmesi, kısa vokal kordlar, dili saklayan ön yerleşimli uzun ve hipertrofik aritenoidler, tükürük birikimi, vokal kordların, epiglotun ve aritenoidlerin koordinasyonsuz hareketleridir. (10) Gilles Roger ve ark. (11) tarafından yapılan geniş bir araştırmada CS'lu olgularda kan gazı düzeylerinde bozulmalar, uyku bozuklukları, faringolaringeal anomaliler -ki bunlar diskoordine faringolaringomalazi, glossoptozis, retrognati, laringeal paralizi, yarık, stenozis ve zor entübasyon-26 hastada (% 58), trakeobronşial anomaliler (özefagotra-keal fistül, özefagial atrezi, trakeomalazi) 18 hastada (% 40) tespit edilmiştir.…”

Section: Olgu Sunumuunclassified

Airway Management of CHARGE Syndrome: Case Report

Sert¹,

Gözdemir²,

Çimen³

et al. 2011

J Turk Anaesth Int Care

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ÖZETCHARGE Sendromu gözde kolobom, kardiyak anomaliler, koana atrezisi, gelişme geriliği, genital hipoplazi ve kulak anomalileri ile kendini gösteren otozomal dominant bir sendromdur. Bu olgu sunusunda kardiyak anomaliler, her iki gözde de iris kolobomu, asimetrik kulak yapısı, sağ kulakta işitme azlığı, yüksek damak, renal kistler, inmemiş testis, bilateral inguinal herni ve doğumsal kalça çıkığı olan 18 aylık hastada inmemiş testis ve bilateral inguinal herni ameliyatındaki anestezi yönetimi, aynı zamanda CHARGE Sendromlu hastalardaki anestezi uygulamalarında ve hava yolu sağlamada dikkat edilmesi gereken noktaları vurgulamak istedik.Anahtar kelimeler: CHARGE sendromu, inmemiş testis, inguinal herni, entübasyon, genel anestezi SUMMARY Airway Management of CHARGE Syndrome: Case ReportCHARGE Syndrome is an autosomal dominant disorder in patients with coloboma of the eye, heart disease, atresia of choanae, retarded growth, genital hypoplasia, and ear anomalies. In this case report we described anaesthetic management of a 18 months-patient with cardiac anomalies, coloboma of iris, asymmetric ear and hearing impairment at right ear, high palate, renal cysts who undergoes bilateral inguinal hernia and undescended testicle operation. We wanted to emphasize the points which should be considered for patients with CHARGE Syndrome in providing anesthesia and airway patency.

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Upper airway obstruction in neonates and infants with CHARGE syndrome

Cited by 23 publications

References 24 publications

Supraglottoplasty Outcomes in Neurologically Affected and Syndromic Children

Supraglottoplasty Outcomes in Neurologically Affected and Syndromic Children

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

Airway Management of CHARGE Syndrome: Case Report

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