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Published on: December 6, 2016
Screening for obstructive sleep apnea in children with syndromic cleft lip and/or palate
Jason Silvestre1, Youssef Tahiri1, J Thomas Paliga1
1Division of Plastic Surgery, The Perelman School of Medicine at the University of Pennsylvania, The Children's Hospital of Philadelphia, USA.
Insights
Obstructive sleep apnea (OSA) screening was positive in 32% of children with syndromic cleft lip and/or palate (CL/P). This highlights the need for OSA screening in this high-risk pediatric population.
Area of Science:
- Pediatric Sleep Medicine
- Craniofacial Anomalies
- Genetics
Background:
- Craniofacial malformations, including cleft lip and/or palate (CL/P), are associated with an increased risk of obstructive sleep apnea (OSA).
- A significant portion of CL/P cases (30%) are linked to genetic syndromes, yet OSA prevalence in this specific subgroup remains understudied.
- This research focuses on determining OSA screening incidence and risk factors within a complex pediatric patient cohort with syndromic CL/P.
Purpose of the Study:
- To determine the incidence of positive obstructive sleep apnea (OSA) screening in children with syndromic cleft lip and/or palate (CL/P).
- To identify risk factors associated with positive OSA screening in this population.
- To evaluate the utility of the Pediatric Sleep Questionnaire (PSQ) as a screening tool in syndromic CL/P patients.
Main Methods:
- Prospective administration of the validated 22-item Pediatric Sleep Questionnaire (PSQ) to patients in a cleft lip and palate clinic.
- Inclusion of 178 patients with syndromic CL/P treated between January 2011 and August 2013.
- Statistical analysis using Fisher exact and Chi-square tests to compare groups and identify risk factors.
Main Results:
- Overall, 32.0% of patients with syndromic CL/P screened positive for OSA.
- Male sex (P=0.030) and non-Caucasian ethnicity (P=0.044) were associated with increased risk of positive OSA screening.
- Patients with 22q11.2 deletion syndrome showed the highest positive screening rate (50.0%, P=0.042).
Conclusions:
- Nearly one-third of children with syndromic CL/P screened positively for OSA, underscoring the need for targeted screening.
- Key indicators for positive OSA screening included observed sleepiness and reported breathing cessation during sleep.
- Further research correlating PSQ results with polysomnography is recommended for validation.
Background:
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.
Methods:
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.
Results:
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).
Conclusions:
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.
Clinical Question/Level Of Evidence:
Diagnostic, III.
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