CHARGE Syndrome Treatment & Management

Updated: Jun 12, 2019
  • Author: Megan Ehlinger Boothe, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

At birth, provide a secure airway, stabilize the patient, exclude major life-threatening congenital anomalies, and transfer the individual with CHARGE syndrome to a specialist center with a pediatric otolaryngologist and other subspecialty services.

  • If airway establishment does not correct cyanosis in a newborn, congenital heart disease is the most likely cause.

  • Individuals with CHARGE syndrome who survive the initial neonatal and infantile period merit vigorous rehabilitation of the sensory function to enable proper psychomotor development.

  • Nasogastric feeding is indicated in individuals with swallowing difficulty.

  • In the presence of facial palsy, avoid corneal scarring by using artificial tears.

  • In males with CHARGE syndrome, androgen therapy has been tried for penile growth.

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Surgical Care

Ensure coordination of various procedures in order that operations and investigations requiring sedation or a general anesthetic can be performed at the same time and multiple anesthetic administrations can be avoided. Surgeries can include the following:

  • Tracheostomy

  • Myringotomy and tympanostomy tubes - For otitis media

  • Gastrostomy and fundoplication - May be necessary with feeding difficulty

In patients with CHARGE syndrome who have sensorineural hearing loss, careful treatment planning can lead to auditory benefit. In a study of 10 patients with CHARGE syndrome and 3 patients with CHARGE-like syndrome, 9 patients demonstrated improved responsiveness with cochlear implantation. [43] Thus, cochlear implantation may be indicated after critical assessment. [44]

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Consultations

Genetic consultation is used for diagnosis, counseling, management, and coordination of services.

  • Otolaryngology

  • Cardiology

  • Ophthalmology

  • Otolaryngology

  • Gastroenterology

  • Audiology

  • Neurology

  • Speech therapy

  • Orthopedics

  • Physiotherapy

  • Occupational therapy

  • Social services

  • Special education

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