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Health // Doctor in the House
Rasa Fournier

Insight On Down Syndrome

Dr. Lenhanh Tran
Ear, nose and throat doctor

Where did you receive your schooling/training?

I went to undergrad at the University of California, Davis, and then George Washington University for medical school. I entered into the military for my residency, which I finished at Walter Reed Army Medical Center and went on to do my pediatric ENT (ear, nose and throat) fellowship at Children’s National Medical Center in Washington, D.C. After the fellowship, I was assigned to Tripler Army Medical Center for four years.

How long have you been practicing?

I opened my private practice in 2003. As a surgeon, I am also affiliated with Kapiolani Medical Center for Women & Children, and two other hospitals on Oahu.

What does your work involve?

My practice is 90 percent pediatric. I deal with medical conditions occurring in the ear, nose and throat, from simple ear infections like tonsillitis, sinusitis and hearing loss to airway obstruction where medical or surgical therapy is required. I am also trained to treat syndromic conditions and congenital disorders including head and neck masses, nasal obstruction and airway abnormalities.

What issues do you address in children with Down syndrome?

Down syndrome is a very complex medical condition. There are certain characteristics where as soon as you look at these children you can recognize this condition. Newborns tend to have smaller, low-set ears, slanted eyes, small nose, protruding tongue and smaller mouth. When you open their hands you can see a transpalmar crease, which is a line across their hands.

Other findings in toddler or adult patients are smaller ear canals, flattened nasal bridge, and an extra crease over their eyelids. They have shorter stature, a short neck and stubby, short, broad hands. They also have sandal shoes defect, where the space between the first and second toe is far apart.

What medical ailments are associated with these anatomical differences?

I’ll begin with the ear. They have a tendency of failing newborn hearing screening and subsequent hearing screening. A combination of abnormal external pinna (outer ear), smaller ear canals, debris easily trapped and impacting ear canals and higher incidence of middle ear abnormality, like fluid collections, abnormal middle ear pressure, abnormal middle ear bones (bulky, stubbier and sometimes fused) may be responsible for conductive, sensory or a mix of the two types of hearing loss.

Next is the nose. They tend to have a flatter face, smaller nasal cavity and upper nasal airway, which may contribute to nasal congestion, runny nose and mouth breathing. Sometimes structural nasal abnormalities may require surgery shortly after delivery. Usually children with Down syndrome have hypotonia or weakness of their muscle tone, which tends to exacerbate upper airway collapse.

In terms of throat, they have a smaller oral cavity. The tongue is a normal size but in a smaller cavity, so the tongue tends to protrude outside. Their facial structural development with narrow upper airway space from front to back, smaller oral cavity, weaker muscular tone and relative bulkier tongue tissue lead to even more upper airway obstruction.

How do you treat these problems?

With the ear, shortly after delivery, a lot of times it’s just keeping ear canals free of debris and wax impaction. If patients have a middle ear infection, antibiotics may be prescribed. In case of recurrent or chronic ear infections, ventilation tubes are placed on the eardrum to aerate the middle ear and improve hearing acuity. Sometimes these children will continue to have significant hearing loss and we may have to recommend hearing aids. In terms of nose, it depends on if it’s structural or if it’s just swelling of the lining inside the nose. Treatment ranges from medications such as nasal rinsing, decongestant or antibiotics to surgery. Down syndrome children tend to have more airway obstruction and increased risk of obstructive sleep apnea. Children with obstructive sleep apnea may need to have CPAP (continued positive airway pressure) or surgical treatment like removal of tonsils, adenoids, tongue reduction or tracheotomy (artificial breathing tube through neck).

Do these problems persist lifelong?

It’s a lifetime of follow-ups, re-screening and retesting. Down syndrome is an abnormality of chromosome 21. Everyone has two copies of that chromosome. Those with Down syndrome have three. Down syndrome is a spectrum that ranges from a minimally affected to severely handicapped child. Many years ago Down syndrome patients didn’t have a long life expectancy; recent studies show they can live up to their 40s and even late 50s. If they have appropriate management of all their medical issues, they can live productive lives.

Anything you’d like to add?

Down syndrome patients tend to have skeletal abnormalities. For example, during anesthesia or upper airway surgery, neck positioning is important. Their cervical spines are not secure, so if you extend the neck too far, their spine will come out of alignment and it can sever the spinal cord and they can have permanent paralysis.

Down syndrome children have multiple system and organ abnormalities. They tend to have increased risk of endocrine disorders like hypothyroidism (underfunction of the thyroid gland). Diabetes is common, and up to 50 percent of these children can get heart disease. They have more risks of immunodeficiencies (tendency for infection) and also blood disorders like leukemia. Hypotonia can affect the muscles of the eye, so they may be nearsighted, farsighted or have strabismus (crossed eyes). They tend to have a lower IQ than children their age. They also have a tendency toward bowel obstruction as well as certain types of cancer. Male patients tend to be infertile. Most Down syndrome children are very friendly and easy to please. But some have behavioral problems like attention deficit, hyperactivity or sometimes oppositional and aggressive behavior.

About 60 to 80 percent of Down syndrome births are conceived but then self-aborted. The ratio of Down syndrome births is 1 out of 800 to 1,000 births every year. The risk of having a Down syndrome child is less in younger parents and increases with advanced maternal age. The recommendation is for mothers over 35 to have screening against Down syndrome. Compared to younger moms, moms over 35 have a fourfold increased risk of Down syndrome, and over 40, it goes up to tenfold.

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