Aerodigestive Management of the Syndromic Patient – Trisomy 21 – CHARGE – 22Q

The Aerodigestive Society Archives
The Aerodigestive Society Archives
Aerodigestive Management of the Syndromic Patient – Trisomy 21 – CHARGE – 22Q

The session on Aerodigestive Management of the Syndromic Patient covered three key syndromes: Trisomy 21, CHARGE, and 22q11.2 Deletion Syndrome. Here are the main points and takeaways:

Trisomy 21 (Down Syndrome)

  1. Prevalence and Impact: High prevalence of otolaryngologic, pulmonary, and GI issues.
  2. Common Issues:
  • Airway Anomalies: Laryngomalacia, tracheomalacia, subglottic stenosis.
  • Swallowing Dysfunction: High rates of dysphagia and aspiration, often silent.
  • Obstructive Sleep Apnea (OSA): High prevalence, often requiring sleep studies for diagnosis.
  1. Management:
  • Multidisciplinary approach involving ENT, pulmonology, GI, and other specialties.
  • Supraglottoplasty for severe laryngomalacia, though it may have a higher failure rate in this population.
  • CPAP or other airway management strategies for OSA.

CHARGE Syndrome

  1. Components: Coloboma, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital abnormalities, Ear abnormalities.
  2. Common Issues:
  • Airway Obstruction: Multiple levels, including nasal, oral, and laryngeal.
  • Feeding Difficulties: High prevalence of dysphagia and aspiration, often multifactorial.
  • Sleep Concerns: OSA and other sleep-related issues.
  1. Management:
  • Multidisciplinary care is crucial.
  • Be prepared for difficult airway management, including potential need for tracheostomy.
  • Aggressive management of feeding and secretion issues, possibly involving surgical interventions like the drool procedure.

22q11.2 Deletion Syndrome

  1. Prevalence: Occurs in about 1 in 4000 live births.
  2. Common Issues:
  • Cardiac Problems: Tetralogy of Fallot, VSD, ASD, vascular rings.
  • Immune Deficiencies: Thymic hypoplasia or aplasia.
  • Endocrinopathies: Hypocalcemia.
  • Developmental Delays: Speech, motor, learning.
  • Palate Abnormalities: Cleft palate, submucous cleft, VPI.
  • Feeding Problems: High prevalence of dysphagia and aspiration.
  1. Management:
  • Early diagnosis is crucial for managing the spectrum of associated conditions.
  • Multidisciplinary approach involving ENT, speech therapy, GI, pulmonology, and genetics.
  • Specific airway evaluations for VPI, glottic webs, subglottic stenosis, and medialized carotid arteries.

General Takeaways

  • Multidisciplinary Approach: Essential for managing complex syndromic patients.
  • Early and Comprehensive Evaluation: Crucial for diagnosing and managing associated conditions.
  • Customized Care Plans: Necessary to address the unique needs of each patient.
  • Importance of Genetic Testing: Helps in diagnosing and planning comprehensive care.

The session highlighted the importance of a coordinated, multidisciplinary approach to managing these complex patients, emphasizing the need for thorough evaluations and individualized care plans.

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