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Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.

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Summary

Cleft palate and lip anomalies are common in Appalachia and often linked to serious health issues. Early diagnosis and care are vital for improving outcomes in this rural population.

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Area of Science:

  • Medical research
  • Congenital anomalies
  • Public health

Background:

  • Cleft lip and/or palate are common congenital anomalies.
  • Rural populations like Appalachia face healthcare access barriers, potentially delaying diagnosis and care.
  • These anomalies can be associated with systemic comorbidities.

Purpose of the Study:

  • To analyze the prevalence of comorbidities and syndromic associations in patients with cleft anomalies in a rural Appalachian setting.
  • To identify functional impairments associated with cleft anomalies in this population.

Main Methods:

  • Retrospective review of 83 patients with cleft anomalies treated between 2017-2021.
  • Analysis of demographics, cleft type, functional impairments, comorbidities, and syndromic associations.
  • Statistical analysis using chi-squared tests to determine associations.

Main Results:

  • Isolated cleft palate was the most common defect (53%), with a female predominance.
  • Significant associations were found between cleft anomalies and cardiac, central nervous system, endocrine, gastrointestinal, renal, genitourinary, and musculoskeletal comorbidities.
  • Over 25% of patients had a known genetic or chromosomal syndrome; feeding, speech, and hearing impairments were also common.

Conclusions:

  • Multisystem comorbidities are prevalent in Appalachian cleft lip and/or palate patients, particularly those with cleft palate.
  • Early identification of associated anomalies is critical for effective multidisciplinary management.
  • Improving outcomes in underserved populations requires addressing these complex health needs.