Among adolescents, the presentation of obstructive sleep apnea syndrome (OSAS) mirrors many typical signs of a much more common age-related diagnosis — hyperactivity, decreased attention span and appetite, excessive fidgeting or movements, irritability, and impulsivity.

“The same symptoms of attention-deficit/hyperactivity disorder (ADHD) could also be the symptoms of a child who has OSAS,” said Allen J. Dozor, MD, associate physician-in-chief at Maria Fareri Children’s Hospital, Valhalla, New York. “It can be very subtle, and it’s a big problem because the symptoms are often different in children than in adults.”

Treatment also tends to be different as does the treatment of chronic obstructive pulmonary disease (COPD), another difficult-to-diagnose condition among pediatrics, particularly because it has not been considered as a potential malady in this patient population enough over the years, according to Dozor. “Traditionally, COPD has been an expression limited to adults who smoked,” he said. “It was strictly considered an adult disease. But it’s a subject that’s very hot right now and it’s very important. And we really need to do better with diagnosing and treating because it can have major long-term consequences.”

Differences in OSAS Diagnosis

When it comes to OSAS, which, as Dozor explained is distinct from OSA in that OSAS refers to the clinical consequences that patients experience as a result of the obstructive events that define OSA, identifying daytime-related symptoms is crucial. “OSAS is the diagnosis where not only does the patient have OSA but it’s actually affecting them in some way,” said Dozor. “And those two tend to get blurred.”

While reliable statistics on OSAS’ incidence in pediatrics are not yet available, some of the commonly confusing elements in detecting the condition in children is that it is not necessarily linked to snoring and obesity like it tends to be in adult patients and does not always produce apparent daytime sleepiness in children.

“You don’t have to be obese, and the difference in symptoms is that most children with OSAS are not sleepy during the day like adults classically are,” said Dozor. “It tends to manifest differently.” Instead, Dozor suggests that clinicians be on alert for the behavioral-type concerns, which could be how the child expresses being sleep deprived. “It’s important for all those who care for children to have suspicion of OSAS first,” he said. “If they don’t think about it, they won’t make the diagnosis.”

Another notable screening component is the potential for snoring during sleep, which is not a certain indicator but does need to be part of the overall observation. “Generally speaking, if the child does not snore it’s unlikely they have OSAS,” said Dozor. “And if they do have snoring, they still might not have OSAS. You don’t have to work up a child who doesn’t snore. And if they don’t seem to have any symptoms other than snoring, you don’t necessarily have to immediately order a sleep study.”

However, in the event that a child does snore in addition to displaying the various types of troubling daytime behaviors, Dozor emphasized that a polysomnogram should occur imminently within a healthcare facility as opposed to being conducted in the home. “With pediatrics, it’s essential that if you suspect OSAS that the patient receive an in-laboratory sleep study,” he said. “Adults often have home studies, which is a simplistic version. But home studies in pediatrics are known to be not as good. When pediatric OSAS is suspected, a sleep study should be ordered in a lab that also has experience with interpreting studies in children by pediatric sleep specialists.”

According to Chelsie Rohrscheib, PhD, a neuroscientist and head sleep researcher at Wesper Inc, a digital health technology company based in New York City, bed wetting and abnormal sleep behaviors including sleep talking, sleepwalking, sleep paralysis, and nightmares can also be indicators of childhood OSAS. Additionally, Dozor suggests that any child who has been diagnosed with ADHD should receive at least one comprehensive in-house sleep study because the presence of OSAS will increase the severity of ADHD. “Solving the OSAS problem won’t necessarily cure the child of everything, but it certainly could be a contributing factor in poor school performance and hyperactivity,” he said. He also encourages that all babies born with down syndrome undergo a sleep study due to the high likelihood that OSA will develop in this population, which the National Down Syndrome Society has found could occur in more than 50% of these children.

COPD Diagnosis Dilemmas

Similarly, diagnosing COPD in children is inconsistent when compared with adults — or perhaps too commonly nonexistent. “There’s no question about it; there are children who have COPD that often goes missed,” said Dozor. “Pediatric COPD as a concept and the recognition that it can happen in children is so new. We have trouble with it because many clinicians, including pulmonologists, think that it is an ‘adult disease’ that they don’t have to worry about.”

Beyond smoking and secondhand smoke, the triggers for COPD, which are typically environmental or based on one’s anatomy, are generally consistent among both children and adults. “We all breathe in germs, allergens, dust, and pollution,” said Dozor. “And that stuff bombards the walls of the bronchial tubes. And we now have learned that there are many children who have permanent narrowing, or obstruction, of the bronchial tubes. And the only way we’ve discovered this was to start doing pulmonary function tests (PFTs) that measure narrowing in children.”

Despite increased awareness of this anatomical irregularity, the utilization of PFTs, particularly spirometry, the most common type of PFT used today, has not yet become a routine practice, said Dozor, who also serves as professor of pediatrics at New York Medical College and president of Boston Children’s Health Physicians, both in Valhalla, New York.

“Pulmonary function tests are frequently not used in children, or even young adults, nearly as much as they should be,” he said. “Spirometry is a simple test and it’s greatly underutilized. One of my missions is to try to convince primary care providers that they should be doing spirometry in their office. The equipment is not expensive. It’s reimbursable by insurance. But it’s still something that pediatricians generally have not figured out how to get into their workflow, and it does require staff training.” Another complication is that spirometry typically cannot be relied on for children younger than 5 years, said Dozor. Instead, other PFT options for this cohort include lung volume testing, diffusion capacity testing, oxygen saturation, and other types of specialty PFTs.“In my practice, every patient age 5 and older, unless they’re neurologically unable, has spirometry before I see them,” said Dozor.

Permanent narrowing of the bronchi in pediatric COPD can also be brought on by environmental exposures, especially due to effects of secondhand smoke in utero or during early childhood. The issue is separate from OSAS, which overwhelmingly causes narrowing in the upper airway, and asthma, for which the narrowing can be reversable with medication.

“COPD almost exclusively refers to narrowing of the lower airway, including the very small airways down deep that you cannot hear with a stethoscope,” said Dozor, who is currently involved in a national study for the condition supported by the National Institutes of Health and the American Lung Association that is screening young adults for early signs of COPD and to follow those patients over many years to learn more about risk factors. “The goal in pediatrics is to send patients to adult specialists with the best possible lung function we can give them because after age 40 everybody’s lung function starts to slowly go down no matter how much you exercise or that you don’t smoke,” said Dozor.

Strategies for Treating OSAS and COPD

“Unlike adults, who are often placed on continuous positive airway pressure (CPAP), the primary and most successful method of treating OSAS in children is removal of the tonsils and adenoids,” said Dozor. “But children can have large tonsils and adenoids that they may not be bothering them at all and might not be OSAS,” he said. “Although sometimes it’s appropriate to remove them because they can affect smell, weight gain, and appetite, I believe strongly that there are many false-positives to just observing that they look big.”

In some cases, children can have temporary large tonsils and/or adenoids because of frequent age-related colds and infections that become smaller as the number of infections decrease and their airway opens more. At the same time, the muscles that keep the upper airway open can be affected from compensating for large tonsils and adenoids, causing OSA. “So there’s unnecessary surgery and there’s patients who should have surgery that goes missing,” said Dozor, who suggests that patients who have any surgeries also have follow-up polysomnograms due to potential postoperative complications. “Many times today, surgeons will only shave the adenoids because complications are less likely with conservative treatment,” he said.

Other treatment options include the correcting of oral cavity defects through surgery and orthodontics, such as adenotonsillectomy or maxillary expansion, said Rohrscheib. “Children are less likely to tolerate CPAP; however, CPAP and other strategies, such as weight loss, may still be used as a second-line treatment,” she said.

For COPD, treatment focuses on supporting overall health, growth, and addressing any underlying cause of disease, such as scarring from a previous infection, premature birth, or genetic disorders that include cystic fibrosis (CF), said Rohrscheib. “Treatments often include inhaled medications, but these don’t always work as well as in adults. Children are also typically placed on protocols that reduce risk of infections, help to clear mucus from the lungs, and are placed on high-nutrient diets to help with normal growth.”

More novel treatments for OSAS include orthodontic rapid palatal expansion, myofunctional therapy, and hypoglossal nerve stimulation in select populations, said Rohrscheib. “And for COPD, especially those with CF, there are various molecular and gene-editing therapies, including utilization of technologies such as CRISPR (clustered regularly interspaced short palindromic repeats). Additionally, new antibiotic medications based on bacteriophage therapy are being explored.”

Rohrscheib reported being on staff at Wesper Inc., which offers devices used for testing sleep apnea in adults. Dozor reported no relevant financial disclosures.