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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis

Marloes Pijpers1, Patrick J P Poels, J Michiel Vaandrager

  • 1Departments of Pediatric Intensive Care, Erasmus Medical Center-Sophia, Rotterdam, The Netherlands.

The Journal of Craniofacial Surgery
|June 24, 2004
PubMed

Insights

Children with syndromal craniofacial synostosis frequently develop obstructive sleep apnea syndrome. A questionnaire revealed higher suspicion rates than medical records, highlighting the need for regular screening.

Area of Science:

  • Pediatric medicine
  • Genetics
  • Sleep medicine

Background:

  • Syndromal craniofacial synostosis (Apert, Crouzon, Pfeiffer syndromes) is associated with a high risk of obstructive sleep apnea syndrome (OSAS).
  • Understanding the natural history and clinical presentation of OSAS in these children is crucial for early diagnosis and management.
  • Limited data exists on the lifelong development and characteristics of OSAS in syndromal craniofacial synostosis.

Purpose of the Study:

  • To investigate the clinical history and treatment of OSAS from birth to adulthood in children with syndromal craniofacial synostosis.
  • To compare the prevalence of OSAS suspicion between retrospective medical record analysis and patient/parent questionnaires.
  • To identify factors associated with OSAS presentation and severity in this population.

Main Methods:

  • Retrospective analysis of medical records for children with Apert, Crouzon, or Pfeiffer syndromes (born 1984-2001).
  • Assessment of OSAS symptoms and history via medical records and a standardized questionnaire.
  • Evaluation of treatment modalities including adenotonsillectomy, continuous positive airway pressure (CPAP), and Le Fort III surgery.

Main Results:

  • OSAS suspicion was reported in 26% of medical records versus 53% via questionnaire.
  • OSAS presentation and severity were not age-dependent.
  • Cold exacerbations of OSAS symptoms were noted in nearly half of the children; specific symptoms correlated with high OSAS suspicion.

Conclusions:

  • Questionnaire-based screening significantly increases the detection rate of OSAS suspicion in children with syndromal craniofacial synostosis compared to medical records.
  • Regular screening using standardized questionnaires can improve the early identification of OSAS in this high-risk pediatric population.
  • Prompt diagnosis and management of OSAS are essential to mitigate associated morbidity.

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