The CHARGE Association

Roger, Gilles; Morisseau-Durand, Marie-Paule; Abbeele, Thierry Van Den; Nicollas, R.; Triglia, Jean‐Michel; Narcy, P; Abadie, Véronique; Manac'h, Y; Garabédian, Éréa-Noël

doi:10.1001/archotol.125.1.33

Cited by 42 publications

(1 citation statement)

References 21 publications

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“…Upper airway collapse or subglottic stenosis due to laryngomalacia can also occur [5]. Tracheostomy is necessary for 29% of patients [6]. As seen above, in treating CHARGE syndrome patients, general anesthesia and perioperative airway management are persistent challenges.…”

Section: Discussionmentioning

confidence: 99%

Successful intubation using video laryngoscope in a child with CHARGE syndrome - A case report -

et al. 2019

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Section: Discussionmentioning

confidence: 99%

Successful intubation using video laryngoscope in a child with CHARGE syndrome - A case report -

et al. 2019

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Upper airway obstruction in neonates and infants with CHARGE syndrome

Naito

Higuchi

Koinuma

et al. 2007

American J of Med Genetics Pt A

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Upper airway obstruction can be life-threatening in neonates and infants with CHARGE syndrome, many of whom undergo intratracheal intubation early in life. Although some of these patients are successfully extubated, others require tracheotomy. Deciding whether to complete tracheotomy is challenging since there are no clear criteria upon which to base this decision. We assessed 10 infants with CHARGE syndrome, 5 of whom required tracheotomy. Fiberoptic laryngoscopy showed that all of these patients shared certain features: anteroposterior flattening of the larynx; short vocal cords; anteriorly positioned, tall and hypertrophic arytenoids obscuring the glottis; uncoordinated movement of the vocal cords, epiglottis and arytenoids; salivary pooling. In addition, we observed only in those requiring tracheotomy an obstructive supraglottis that prevented visualization of the vocal cords throughout respiration. Salivary retention was much more severe in this group. These findings might be helpful for predicting the need for an early tracheotomy in situations where the vocal cords are not visible throughout the entire respiratory cycle. Given the high prevalence of malformed larynx and abnormal cranial nerve function, which are not alleviated by supraglottoplasty, we suggest that a thorough investigation of upper airway obstructive entities other than laryngomalacia be performed before embarking on supraglottoplasty in patients with CHARGE syndrome.

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Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Geus

Free

Verbist

et al. 2017

American J of Med Genetics Pt C

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“CHARGE syndrome” is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri‐anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome.

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The CHARGE Association

Cited by 42 publications

References 21 publications

Successful intubation using video laryngoscope in a child with CHARGE syndrome - A case report -

Successful intubation using video laryngoscope in a child with CHARGE syndrome - A case report -

Upper airway obstruction in neonates and infants with CHARGE syndrome

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

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