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CHARGE Syndrome Treatment & Management

  • Author: David H Tegay, DO, FACMG; Chief Editor: Maria Descartes, MD  more...
 
Updated: Apr 05, 2016
 

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 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.

  • 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 recent study of 10 patients with CHARGE syndrome and 3 patients with CHARGE-like syndrome, 9 patients demonstrated improved responsiveness with cochlear implantation.[31] Thus, cochlear implantation may be indicated after critical assessment.

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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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Contributor Information and Disclosures
Author

David H Tegay, DO, FACMG Associate Professor and Chair, Department of Medicine, NYIT College of Osteopathic Medicine; Director, Genetics Division, Department of Pediatrics, Nassau University Medical Center

David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American College of Osteopathic Internists, American Osteopathic Association, Federation of American Societies for Experimental Biology, American Society of Human Genetics

Disclosure: Nothing to disclose.

Coauthor(s)

Jamie C Yedowitz New York College of Osteopathic Medicine of the New York Institute of Technology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Elaine H Zackai, MD Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia

Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate-Craniofacial Association, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Venkataraman Krishnan, MBBS, DCH, MRCP, FAAP, MD to the development and writing of this article.

References
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  2. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010 Mar. 152A(3):674-86. [Medline]. [Full Text].

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  31. Arndt S, Laszig R, Beck R, et al. Spectrum of Hearing Disorders and Their Management in Children With CHARGE Syndrome. Otol Neurotol. 2009 Oct 16. [Medline].

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