HeadLines - For special needs children, more than meets the eye
For special needs children, more than meets the eye
Treatments for children with intellectual or physical disabilities have naturally tended to focus on immediate solutions to well-documented and well-studied problems, such as repairing heart defects in Down syndrome or operating on affected joints for skeletal dysplasia. Recent research and experience, however, suggest that these patients’ medical issues may extend far beyond the obvious ones.
For example, says otolaryngologist Stacey Ishman, the vast majority of Down syndrome patients have sleep-disordered breathing by age 8. This problem often goes undiagnosed as these children head into their teenage years, leading to other problems in their academic and social lives.
“In adults, we usually talk about daytime sleepiness as a reason to come in for treatment,” she says. “But most kids with Down syndrome don’t complain of being tired. They present with behavioral issues or problems with memory and learning.”
The solutions for treating these children are also different, Ishman says. Although operations to remove tonsils and adenoids are often performed as an initial treatment in children, they frequently don’t completely resolve sleep apnea for patients with Down syndrome. Rather, they might require additional therapy, such as continuous positive airway pressure (CPAP), a machine that uses mild air pressure to keep airways open.
Finding the right treatment can improve life immensely for Down syndrome patients with sleep apnea, says Ishman, whose patients also include other children with a wide variety of special needs.
“These children deserve the same opportunities even if the outcomes, such as a jump in grades after treatment for sleep apnea, aren’t the same as with other children,” she says. “Whatever the ability or disability, quality of life is incredibly important.”
Otolaryngology issues that affect quality of life also plague patients with short stature skeletal dysplasia, who are often treated by pediatric otolaryngologist David Tunkel. He cares for patients as part of the multiple disciplines in Hopkins’ Greenberg Center for Skeletal Dysplasias, a center of excellence for patients with this group of genetic conditions.
Patients with achondroplasia, the most common disease in this category, often also suffer from sleep apnea. However, until a recent study by Tunkel and his colleagues, many physicians were unaware that achondroplasia patients additionally have a disproportionate rate of hearing loss.
At annual meetings of the Little People of America, a national organization for people with short stature skeletal dysplasia that draws thousands of patients, Tunkel and colleagues from institutions across the United States provide medical counseling sessions. Examining volunteers who were willing to have their hearing tested, Tunkel and other researchers found that more than one-quarter of pediatric patients had hearing loss and about half had middle ear disease. Those rates are about six times higher than those in the general population and may be due to the effects of achondroplasia on all the body’s bones, including those in the ear, Tunkel explains. Altered skull anatomy may also lead to reduced drainage in the ear, leading to more severe and persistent ear infections than those seen in the general population, he adds.
Patients with achondroplasia not only require surgery to place ear tubes more frequently, but their anesthesia needs are different as well, even from patient to patient. They have unique airway anatomy that can alter the approach needed for safe anesthesia, and even the process of obtaining intravenous access can be difficult because of their unique skeletal structure, Tunkel explains.
For these and other reasons, Tunkel says, it’s important for every child with special needs to receive individual evaluations from experts in their specific condition. “In the same family, a parent, uncle, and child may all be diagnosed with the same genetic condition but have very specific and different needs,” Tunkel says. “It’s our job to do the best we can to make sure our patients, regardless of their condition, receive the care they need to be successful in life as they grow into adulthood.”