David Gozal, MD: Heterogeneity Poses Challenges to Diagnose Pediatric OSA

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Gozal told HCPLive about the issue of the classic approach when diagnosing children with OSA.

Heterogeneity impacts the diagnosis of patients with obstructive sleep apnea (OSA), David Gozal, MD, from the University of Missouri-Columbia, told HCPLive at SLEEP 2024, the 38th annual meeting of the Associated Professional Sleep Societies, in Houston.

Depending on one’s environment, lifestyle, and genetics, OSA presents itself differently for patients in terms of diagnosis and severity. At his session at SLEEP 2024, Gozal spoke about the heterogeneity of pediatric OSA.

Gozal said the heterogeneity of pediatric OSA is contributed by 2 elements: pathophysiology and consequences. One child may have large tonsils but no OSA and another child may have little tonsils and yet will have OSA because of cranial or anatomical issues.

“From that perspective, having that heterogeneity determines the type of treatment that one would posit to engage with,” Gozal said. “Conversely, two people may have exactly the same severity of disease, but one will develop all sorts of morbidities, and one may not.”

Gozal explained heterogeneity is important because kids or patients tell their doctor the symptoms or consequences of their disease, and a clinician needs to understand different mechanisms can account for this specific heterogeneity.

Genetic, anatomical, and environmental factors influence the variability in pediatric OSA. People have small genetic variables that account for differences in how we respond to the environment, such as specific genes involved in single nucleotide polymorphisms or other genetic variances of epigenetics that can change how the gene responds to the environment or disease.

The environment can also impact the way a person responds to a disease. For instance, a child who is intellectually stimulated such as reading a lot, could respond to a disease differently than someone who is not intellectually stimulated. The level of exercise a child gets can affect how a child responds to a disease.

Challenges exist with diagnosing pediatric OSA. Currently, physicians use a classic approach where they look at symptoms and a sleep study as the determinant of the disease. Gozal stressed the importance of looking at the biology of the disease consequences, and thus, a sleep study is insufficient for a diagnosis. Clinicians need to identify children who have a normal sleep study and still have consequences of sleep apnea.

“That would be almost incongruent in the current approach that we use,” Gozal said. “We see that quite a bit—kids come to us with a variety of symptoms, yet we do a sleep study [and] it's normal. Well, is it really normal? Are we missing something in the way that we interpret the sleep study, or do we need to use much more sophisticated technologies such as multi-omic technology in order to identify the overall biological ecosystem that is actually affected?”


Gozal, D. On the Heterogeneity of Pediatric OSA: Inroads to Precision. Session presented at SLEEP 2024 in Houston, TX on June 4, 2024.