CHARGE Syndrome
Everything in the library about CHARGE syndrome — built automatically from the recorded discussions that name it
Educational content from recorded physician discussions — not medical advice. Always talk to your child's care team about your child's situation.
Content of this collection
Fundamentals
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QUAD #22: What is CHARGE syndrome? with Dr. Catherine Hart
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In this educational video, Dr. Catherine Hart, ENT surgeon at Cincinnati Children’s, provides an overview of CHARGE syndrome, a rare genetic disorder that affects multiple organ systems. Learn about its diagnosis, clinical features, and the
video0:59 · Nov 2024
Diagnosis & Workup
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Aerodigestive & Esophageal Surgery: Aspiration in TEFs
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Dr. Michael Rutter moderates a discussion of tracheal esophageal fistula, aspiration, aspiration testing, and esophageal reflux.
video5:28 · Jan 2019
In-Depth Reviews
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Aerodigestive Management of Pediatric Aspiration - FULL SHOW
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The Aerodigestive and Esophageal Center at Cincinnati Children’s is internationally known for our team approach to caring for children with airway and esophageal disorders. We have the multidisciplinary expertise to treat even the most comp
video157:09 · Jul 2020
Summaries and takeaways+ Show
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Every expert statement below comes from the recorded discussions, with its speaker and moment.
Aerodigestive & Esophageal Surgery: Aspiration in TEFs
Most children who aspirate have a functional or neurological problem.
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Cerebral palsy and CHARGE syndrome are examples of functional/neurological causes of aspiration.
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Anatomical problems causing aspiration include tracheoesophageal fistula and laryngeal cleft.
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Bad pharyngeal scarring can cause aspiration in some children.
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Esophageal stenosis with backup and spillover can cause aspiration.
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For children who aspirate food and drink, nasogastric tube or gastrostomy tube can be considered.
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Robinul (glycopyrrolate) can be tried for saliva management but generally does not work.
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Botox injection of major salivary glands is a temporary solution and serves as a good test for how a child would cope with less saliva.
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A drool procedure involves removing the submandibular glands and ligating the parotid ducts.
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Tracheotomy allows suctioning of the airway clear of secretions.
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BiPAP can be placed on a tracheostomy so that secretions are blown up and out of the mouth.
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Laryngotracheal separation is the only guaranteed operation to stop aspiration but results in loss of ability to vocalize.
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Nissen fundoplication or any fundoplication may assist with aspiration of gastroesophageal reflux, as may a GJ tube.
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Children with tight fundoplication and non-motile esophagus can develop accumulation and spillover of esophageal contents leading to aspiration.
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In a child with tracheostomy, the simplest test for aspiration is to put colored dye in the mouth and see if it comes out of the trach tube.
clinicalBob2:55 ↗
The dye test can be done at home in a normal setting and repeated, and is helpful to convince skeptical parents that the child is aspirating.
clinicalBob3:05 ↗
Video swallow studies and endoscopic swallow studies can be very useful for testing aspiration.
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There are no unequivocal endoscopic markers of aspiration.
clinicalBob3:23 ↗
Lipid-laden macrophages are non-specific markers of aspiration.
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Recovery of lipid-laden macrophages depends on what material was aspirated, how much lipid it contained, the amount aspirated, and how long since the aspiration event.
clinicalBob3:35 ↗
Lots of lipid-laden macrophages in the right clinical setting provide convincing evidence of aspiration, but it is not a black and white yes/no answer.
clinicalBob3:57 ↗
For saliva aspiration testing in a child with tracheotomy, a drop of green food dye on the tongue can be used to see if it comes out the trach tube.
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Green is a good dye color because it is not natural, unlike red or blue which might be confused with body-produced substances.
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For saliva aspiration testing without tracheotomy, a nuclear medicine scan with a drop of radioactive material on the tongue can show if it ends up in the lungs or stomach.
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As markers for aspiration, reflux tests are not particularly good.
clinicalPhil5:02 ↗
Multi-channel intraluminal impedance testing has mostly replaced simple pH testing for detection of reflux.
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Multi-channel intraluminal impedance testing does not add anything to the diagnosis of aspiration itself; it tells whether something is being delivered from the stomach to the esophagus but not what happens after that.
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QUAD #22: What is CHARGE syndrome? with Dr. Catherine Hart
The CHARGE acronym stands for coloboma, heart defects, atresia of the choana, retardation of growth and development, genital and/or urinary anomalies, and ear malformations.
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CHARGE syndrome is caused by a CHD7 mutation on chromosome 8.
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A population of children with CHARGE syndrome will have a negative test for CHD7 but can still have CHARGE syndrome based on clinical criteria.
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