Rare Diseases Symptoms Automatic Extraction

Screening for obstructive sleep apnea in children with syndromic cleft lip and/or palate.

[22q11.2 deletion syndrome]

Craniofacial malformations including cleft lip and/or palate (CL/P) increase risk for obstructive sleep apnea (OSA). While 30% of CL/P occurs in the context of underlying genetic syndromes, few studies have investigated the prevalence of OSA in this high-risk group. This study aims to determine the incidence and risk factors of positive screening for OSA in this complex patient population.The Pediatric Sleep Questionnaire (PSQ) was prospectively administered to all patients cared for by the cleft lip and palate clinic at the Children's Hospital of Philadelphia between January 2011 and August 2013. The PSQ is a 22-item, validated screening tool for OSA with a sensitivity and specificity of 0.83 and 0.87 in detecting an apnea-hypopnea index (AHI) >5/hour in healthy children. The Fisher exact and Chi-square tests were used for purposes of comparison.178 patients with syndromic CL/P completed the PSQ. Mean cohort age was 8.1 ± 4.4 years. Patients were predominately female (53.9%), Caucasian (78.1%), and had Veau Class II cleft (50.6%). Craniofacial syndromes included isolated Pierre Robin Sequence (PRS) (29.8%), 22q11.2 deletion syndrome (14.6%), Van der Woude syndrome (6.7%), and other rare genetic abnormalities (28.8%). The overall incidence of positive OSA screening was 32.0%. Males were at increased risk for positive OSA screening (P = 0.030), as were non-Caucasians (P = 0.044). Symptoms with the highest positive predictive value for OSA were "others comment on child appearing sleepy" (76.2%) and "stops breathing during the night" (75.0%). Notably, patients with 22q11.2 deletion syndrome were at highest risk for positive screens (50.0%, P = 0.042).Nearly a third of our patients with syndromic CL/P screened positively for OSA (32.0%), highlighting the importance of screening in this at-risk population. Future work will correlate screening results with polysomnograms to help validate these findings.Diagnostic, III.

Diseases presenting "high-risk group" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • esophageal adenocarcinoma
  • hodgkin lymphoma, classical

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