Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.
The present study assessed the impact of computerised spirometry interpretation expert support on the diagnostic achievements of general practitioners (GPs), and on GPs' decision making in diagnosing chronic respiratory disease.A cluster-randomised controlled trial was performed in 78 GPs who each completed 10 standardised paper case descriptions. Intervention consisted of support for GPs' spirometry interpretation either by an expert system (expert support group) or by sham information (control group). Agreement of GPs' diagnoses was compared with an expert panel judgement, which served as the primary outcome. Secondary outcomes were: additional diagnostic test rates; width of differential diagnosis; certainty of diagnosis; estimated severity of disease; referral rate; and medication or nonmedication changes. Effects were expressed as odds ratios (ORs) with 95% confidence intervals (CIs).There were no differences between the expert support and control groups in the agreement between GPs and expert panel diagnosis of chronic obstructive pulmonary disease (OR (95% CI) 1.08 (0.70-1.66)), asthma (1.13 (0.70-1.80)), and absence of respiratory disease (1.32 (0.61-2.86)). A higher rate of additional diagnostic tests was observed in the expert support group (2.5 (1.17-5.35)).Computerised spirometry expert support had no detectable benefit on general practitioners' diagnostic achievements and the decision-making process when diagnosing chronic respiratory disease.
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