Ask the Expert...

How do I know if my son or daughter has sleep apnea? How is it treated?

Snoring and Obstructive Sleep Apnea are both breathing disorders that occur during sleep due to narrowing or total closure of the airway. Snoring is a noise created by the partial closure of the airway and may often be more problematic than the noise itself. However, consistent, loud, heavy snoring has been linked to medical disorders such as high blood pressure. Obstructive Sleep Apnea is a serious condition where the airway totally closes many times during the night and can significantly reduce oxygen levels in the body and disrupt sleep. In varying degrees, this can result in excessive daytime sleepiness, irregular heartbeat, high blood pressure and occasionally heart attack and stroke.

Individuals who have Down syndrome have a number of risk factors that contribute to this challenge. Some of the anatomical structures of the face can be one contributing factor. Weight is another factor that can affect the flow of air through the airway and Thyroid disease is another component that can contribute to the level of risk. According to a Journal of Sleep Medicine article (August 2009), children who have Down syndrome have a 30-50% prevalence and adults have even more factors for sleep apnea.

How do you know if you have sleep apnea? A sleep physician needs to diagnose this, based on the results of an overnight sleep study (Polysomnogram).

How do I treat it? There are a few ways to improve your condition. A weight management program may be beneficial. Avoiding alcohol and tobacco is also helpful. Sleeping on your side can decrease the severity of the problem.

If it has been determined by a physician that a patient has sleep apnea, medical and dental treatments including Continuous Positive Airway Pressure (CPAP), oral appliance therapy (OAT) and upper-airway surgery may be helpful. If you think you or someone you care about may have sleep apnea, talk with a physician and/or dentist.

Do not ignore it! Sleep is good; Proper sleep is great!

By Steve Green, DDS of Team Green Dentistry located in Fishers, IN

Is autism more common in children with Down syndrome? Is there any understanding why it might be more common in children with Ds than in the population at large?

Autism occurs in 1 in 110 people according to the latest statistics from the Center for Disease Control and Prevention. Thus, approximately 1% of the population has an autism spectrum disorder. The current estimate of autism in people with Down syndrome is 7-10%. As such, autism does appear to occur much more frequently in people with Down syndrome than in the population at large.

However, this should be evaluated very carefully. First, there are few studies to evaluate this trend. In addition, the measures utilized to provide diagnostic clarification are not normalized or standardized for use on this population. In addition, results were found to be somewhat inconclusive in some studies. Finally, making clear diagnostic distinction is difficult, particularly in individuals with various levels of cognitive impairment.

Oftentimes there is a great deal of overlap between particular diagnoses. For example, individuals with Down syndrome have some level of cognitive impairment. Those individuals with cognitive impairments will be certain to show some delays in language development, social interactions that are young for their age, and a variety of repetitive or self-injurious behaviors. As such, it can be difficult to distinguish to what to attribute the characteristics. In general, a good rule of thumb is that a diagnosis is not added unless it is clear that the symptoms present are over and above those that would be expected from the primary diagnosis. So, in the case of autism and Down syndrome, having some repetitive rocking behavior, though also a symptom of autism, would not be added unless this repetitive behavior occurred to the exclusion or in preference of social or other interactions. In addition, having a speech and language delay that is consistent with the delay expected with the general cognitive delays of the individual in Down syndrome would not be considered a symptom of autism unless the language was also unusual with respect to the pragmatics or functional use of language as in autism. It is possible that autism is overidentified in individuals with Down syndrome due to this common misunderstanding--the presence of characteristics similar to those in autism do not equate to the need for diagnosis of autism.

On the other hand, the diagnostic picture is indeed complicated in that it is also clear that there is an increased risk of autism in a variety of genetic disorders beyond Down syndrome inclusive of Fragile X syndrome and Tuberous Sclerosis. In addition, we know that there are several factors that lead to an increased risk of autism in people with Down syndrome and others:

Male vs. female
History of infantile spasms
Family history of autism
Lower cognitive ability

In that a full understanding of the cause of autism is not yet known, it is difficult to determine why this occurs. What we do know is that the determination of this diagnosis can be quite difficult and we ultimately do not yet have adequate tools to either identify or distinguish autism from other disorders such as Down syndrome. Unlike Down syndrome which has been identified and studied since the 1800s, autism is a relatively new diagnostic category, first identified in 1943 and not intensively studied until the 1980s. There is still much that we do not yet know about this disorder. Until we do, it will make a full understanding of the dual diagnosis with other disorders also difficult.

By Naomi Swiezy, Ph.D., HSPP, Alan H. Cohen Family Scholar of Psychiatry IUSM, Clinical Director of the Christian Sarkine Autism Treatment Center at Riley Hospital for Children

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Heart Disease and Down syndrome

(This piece was published in the Winter 2010 edition of common bonds.)

Adult patients having Down sydrome but no evidence of congenital heart disease are at the same risk for eventual development of atherosclerotic cardiovascular disease (coronary artery disease, stroke, peripheral artery disease, and aortic aneurysms) as compared to individuals who do not have Down syndrome. Risk factors for the development of coronary artery disease and stroke include (1) family history of early heart attacks or strokes, (2) hyperlipidemia, (3) hypertension, (4) smoking, (5) diabetes, (6) obesity, and (7) sedentary life style. The American Academy of Pediatrics (Pediatrics, July, 2008, Vol 122, No 1: 198-208) recommends a screening fasting lipid panel in all children by age 10 years, and as early as 2 years of age if there is a positive family of early atherosclerotic disease.

Atherosclerosis is a nutritional disease of childhood and decreasing the incidence of coronary artery disease in mid and late life necessitates establishing healthy habits in nutrition and lifestyle in early life. (Berenson, et.al.; “Atherosclerosis: A Nutritional Disease of Childhood”, American Journal of Cardiology, 1998; 82:22T-29T) The Muscatine, Iowa Study (Clarke, et.al “Changes in ponderosity and blood pressure in childhood: the Muscatine Study. American Journal of Epidemiology. 1986; Vol 124, No2, 124:195-206.) confirmed that obese children have more significant hypertension and hyperlipidemia. Longitudinal studies indicate that obesity acquired in childhood is predictive of worsened adult obesity and the development of coronary artery disease.

If children become overweight before age 8 years, obesity in adulthood is likely to be more severe. Overweight children and adolescents may experience other health conditions associated with increased weight, which include asthma, liver damage, sleep apnea, and type 2 diabetes. Obesity also puts children at long-term higher risk for other debilitating chronic conditions such as stroke; breast, colon, and kidney cancer; musculoskeletal disorders; and gall bladder disease. The fundamental cause of obesity is a greater imbalance between energy intake (over eating) and energy expenditure (lack of exercise).

We must; therefore, encourage our children with Down syndrome to exercise more and decrease caloric intake to avoid obesity as a cause of developing atherosclerotic heart disease. We need to treat the development of hypertension or hyperlipidemia aggressively. If these patients develop insulin insensitivity (type 2 diabetes), this also needs to be aggressively managed. A significant number of patients with Down syndrome may also have low thyroid levels (hypothyroidism) which may accentuate their tiring easily and obesity. Blood tests are indicated to make certain that thyroid function is maintained normal.

Randall L. Caldwell, MD, FACC, FAAP
Riley Hospital for Children