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Down Syndrome for the OtolaryngologistA Review

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Abstract

Importance  There are many features of Down syndrome that prompt referral to an otolaryngologist. As the lifetime prevalence and life expectancy of individuals with Down syndrome increase, it is increasingly likely that otolaryngologists will have the opportunity to care for patients with Down syndrome.

Observations  A confluence of characteristics common to Down syndrome may be associated with issues in the head and neck, from infancy through adulthood. Hearing concerns range from narrow ear canals and cerumen impactions to eustachian tube dysfunction, middle ear effusion, cochlear malformations, and conductive, sensorineural, and/or mixed hearing loss. Immune deficiency, hypertrophy of Waldeyer ring, and hypoplastic sinuses may complicate and develop into chronic rhinosinusitis. Speech delay, obstructive sleep apnea, dysphagia, and airway anomalies are also common among this patient population. Because these concerns may necessitate otolaryngologic surgery, it is vital for otolaryngologists to familiarize themselves with anesthetic concerns, including cervical spine instability, in patients with Down syndrome. Comorbid cardiac disease, hypothyroidism, and obesity may also affect these patients and otolaryngologic care.

Conclusions and Relevance  Individuals with Down syndrome may visit otolaryngology practices at all ages. Otolaryngologists that familiarize themselves with the head and neck manifestations that are common among patients with Down syndrome and know when to order screening tests will be able to provide comprehensive care.

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Article Information

Accepted for Publication: January 1, 2023.

Published Online: March 2, 2023. doi:10.1001/jamaoto.2023.0001

Corresponding Author: Claire M. Lawlor, MD, Department of Otolaryngology, Children’s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010 (cmlawlor@childrensnational.org).

Conflict of Interest Disclosures: None reported.

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AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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