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Published on: December 6, 2016
Obstructive Sleep Apnea-Hypopnea Syndrome in Children With Down Syndrome Treated at a Tertiary Care Hospital in
Silvia N Suarez Mantilla1, Victor Manuel Mora Bautista1,2, Martha Lucia Africano Leon1,2
1Pediatrics, Universidad Industrial de Santander, Bucaramanga, COL.
Insights
Obstructive sleep apnea-hypopnea syndrome (OSAHS) is common in children with Down syndrome (DS). This study found a lower-than-expected diagnosis rate, suggesting underdiagnosis due to access to polysomnography (PSG).
Area of Science:
- Pediatrics
- Sleep Medicine
- Genetics
Background:
- Obstructive sleep apnea-hypopnea syndrome (OSAHS) is prevalent in children with Down syndrome (DS), linked to anatomical factors like midfacial hypoplasia and macroglossia.
- OSAHS is a significant cause of morbidity and mortality in children with DS, with untreated cases potentially leading to pulmonary hypertension.
- Current guidelines recommend polysomnography (PSG) for all children with DS before age four due to the risks of untreated sleep-disordered breathing.
Purpose of the Study:
- To examine the profile and frequency of OSAHS in children with Down syndrome.
- To identify factors associated with OSAHS diagnosis in this population.
- To highlight potential underdiagnosis and barriers to accessing diagnostic evaluations.
Main Methods:
- A case-control study was conducted involving 124 patients with DS under 13 years of age.
- Data were collected from patients treated at a tertiary care institution in northeastern Colombia between 2012 and 2023.
- Diagnosis of OSAHS was based on polysomnography (PSG) findings.
Main Results:
- Out of 124 patients with DS, 19 (15.3%) were diagnosed with OSAHS.
- The only significant association found with OSAHS diagnosis was the place of residence, with urban dwellers having better access to PSG.
- The observed frequency of OSAHS was lower than reported in previous literature, suggesting potential systematic underdiagnosis.
Conclusions:
- Socioeconomic status and access to diagnostic evaluations, particularly PSG, appear to be primary determinants for OSAHS diagnosis in children with DS, rather than clinical characteristics.
- The findings indicate a possible underdiagnosis of OSAHS in the DS population, especially in rural and low-income areas.
- Expanding access to PSG and implementing universal screening protocols are crucial for early identification and management of OSAHS in children with Down syndrome.
Abstract:
Obstructive sleep apnea-hypopnea syndrome (OSAHS) is frequent in children with Down Syndrome (DS), associated with anatomical characteristics such as midfacial hypoplasia, macroglossia, and hypotonia. It represents a frequent cause of morbidity and mortality among children with DS. Early identification of OSAHS in the DS population is essential, as untreated sleep breathing disorders are linked to severe complications, including pulmonary hypertension. Consequently, guidelines, such as the Health Supervision for Children with Down Syndrome from the American Academy of Pediatrics, recommend polysomnography (PSG) for all children with DS before age 4. This case-control study examined the profile of OSAHS in 124 patients with DS under 13 years of age who were treated at a tertiary care institution in northeastern Colombia from 2012 to 2023. Of the 124 patients, 19 (15.3%) were diagnosed with OSAHS. The only significant association identified was with place of residence, related to the fact that individuals (not patients) living in the city or its metropolitan area have greater access to PSG. Our observed frequency is lower than previously reported in the literature, indicating possible systematic underdiagnosis. Socioeconomic status and access to diagnostic evaluation, rather than clinical characteristics, appear to be the primary determinants for receiving a diagnosis. Expanding access to PSG, particularly in rural and low-income regions, and prioritizing universal screening in clinical protocols over symptom-based referral are essential steps.
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