Down syndrome and sleep

by Jamie Edgin and Lynn Nadel Special To The Arizona Daily Star:
The Down Syndrome Research Group at the University of Arizona conducts research to further our understanding and treatment of the cognitive dysfunction associated with Down syndrome.
Part of our research studies sleep, which is very important for learning. Sleep can be a problem for people with Down syndrome. Our laboratory is one of the few places in the world that studies sleep in people with Down syndrome.
One of our studies may determine how obstructive sleep apnea affects learning and behavior in people with Down syndrome. We anticipate illuminating links between sleep and cognitive deficits, thereby enhancing the possibilities for treating sleep disruption.
Our study has also had an impact on the public's awareness that people with Down syndrome may have problems sleeping. We offered a family in Phoenix an opportunity for their son to take part in the sleep study. As a result, he is now receiving treatment that has changed his life.
His mother, Leticia Avena, wrote about the impact of the study on her son's life:
"As a little boy, Isaiah would snore loudly and he always seemed tired and grumpy. His ENT suggested removing his tonsils and adenoids. After the surgery, we noticed some improvement with the snoring and breathing, but he was still tired and irritable."
After we tested Isaiah's sleep patterns with a method of monitoring the quantity and quality of sleep called polysomnography, we recommended that the Avena family follow up with his pediatrician and have a formal sleep study done.
"Isaiah was diagnosed with sleep apnea and prescribed a continuous positive airway pressure (cPAP) machine. Who would have thought that a little machine like that could make such a big difference!" his mother wrote.
"He no longer snores, he's happier and more alert, and we've been able to cut back on his medication for ADHD. We are very grateful to the DSRG. They have made a big difference in Isaiah's life, which has made our lives better, too."
The Down Syndrome Research Group also provides opportunities for people with Down syndrome to intern in our lab.
Sherine Rocha, a 20-year old woman with Down syndrome, is one of our interns. Her volunteer work helps support several research studies already under way in the lab, including one that develops tools to assess people's cognitive abilities. These tools will be used in studies to tell if a therapy has worked. Sherine and her family were excited to hear that possible treatments are being tested right now.
Success stories like these inspire us. In December 2011, the Down Syndrome Research Group and the UA College of Science established DSA CARES (Down Syndrome Arizona! - Clinical Care, Advocacy, Research and Education) to continue our research and to develop partnerships with the community.
Sherine and Isaiah are just two of the individuals with Down syndrome who have already participated and benefited from DSA CARES. This partnership is critical for obtaining the resources needed to support Arizonans with Down syndrome for years to come.
Our ultimate goal is helping everyone with Down syndrome maximize their potential.
About the scientists
Lynn Nadel is a University of Arizona Regents' Professor of psychology and a faculty member in the Cognitive Science Program. He is an expert in the functioning of the hippocampus, a part of the brain involved in memory that is the major target of neurological interventions in Down syndrome.
Jamie Edgin is a University of Arizona assistant professor of psychology and affiliated faculty of the Sonoran University Center for Excellence in Developmental Disabilities. She studies memory in typical development and in neurodevelopmental disorders such as Down syndrome.

Experience Science
• UA Down Syndrome Research Group: dsrg.arizona.edu
• Arizona Public Media story on sleep in Down syndrome: https://www.azpm.org/p/top-health/2011/6/27/1830-sleep-and-down-syndrome
• KJZZ radio interview: archive.kjzz.org/news/arizona /archives/201009 /Down_Testing

How to participate
To take part in these studies, contact Jamie Edgin at 520-626-0244 or jedgin@email.arizona.edu

Down syndrome and Alzheimer's

from newstimes.com:

Dear Readers,

I would like to stray from our regular pattern of answering one of your emails or letters. The reason for this is a particular topic which many of you brought up during a recent lecture given by geriatrician Marina Blagodatny and psychiatrist Neil P. Dolan at the Trumbull Marriott.

The topic in question was dementia, specifically Alzheimer's dementia in people with Down syndrome. I hope that you do not mind my taking the opportunity to write about it some more.

Let's start with the definition of Down syndrome. It is a genetic disorder affecting one in 733 live births and accounts for about 15 percent of intellectual disabilitiy cases.

Symptoms of the learning problems associated with the syndrome range from mild to moderate, as does the patient's functional capacity. The cause of this disorder is, most of the time, an extra chromosome -- or genetic "building block" -- in our body. Chromosome 21 is the one affected. Normally a person has two copies of each of the chromosomes.

In at least 90 percent of Down syndrome cases, a person has three copies of Chromosome 21. This is not an illness one inherits from a parent, at least not in a majority of cases. The most commonly known risk factor is late maternal age. By age 45, a woman's risk of having a baby with this disorder is one in 35.

Life expectancy of patients with Down syndrome has increased dramatically in the last century. From roughly 10 years in the 1920s, it is now quite normal for those with Down syndrome to enjoy life way beyond age 50.

Unfortunately, there are many problems these patients and their families have to struggle with throughout their lives. People born with the syndrome age faster, and are prone to developing dementia.

It is known that 25 percent of Down syndrome patients have dementia by age 35. They are three to five more times more likely to get dementia as compared to patients the same age not born with the genetic disorder.

What is most perplexing is the fact that, although virtually all adult patients with Down syndrome have specific changes in the brain characteristic of dementia, not all of them have the symptoms.

For those of you who are more scientifically inclined, the changes are called neurofibrillary tangles and amyloid plaques, as well as loss of nerve cells in certain parts of the brain.

It must be clarified that people with other forms of intellectual disability not related to Down syndrome have the same risk and rate for dementia diagnosis as the non-affected population.

Scientists still do not fully understand why this is the case, other than that the Chromosome 21 abnormalities must play a significant role. Alzheimer's disease is the most common form of dementia. It is a progressive memory disorder that affects our ability to reason, remember, use language and think.

The disease can attack quickly and lead to demise in only a few years, or linger over 10 to 15 years, affecting not only the patient but the whole family. Approximately 4 million Americans are affected today by Alzheimer's. Presentation of the disease in patients with Down syndrome is quite different from that in other dementia patients.

Loss of language skills and the ability for self-care are quite common early. Seizures happen often in individuals who did not have them before. Incontinence, personality changes and sleep disruptions are also seen.

Since the mental abilities of patients with Down syndrome vary greatly to begin with, diagnosis of dementia is challenging. Unfortunately, the majority of patients are diagnosed late in the process of the illness. Standardized tests used in non-Down syndrome individuals do not apply to this group.

It is crucial for a specialist involved to have some idea of the person's cognitive baseline. Many advocate for the universal screening of Down syndrome individuals around age 30. There is a questionnaire called "The Dementia Questionnaire for Mentally Retarded Persons," which can help, as well as a few other available tools. As a rule, a specialized dementia center is the best place to follow a patient with Down syndrome and Alzheimer's. The input from the caregivers and the primary care physician are considered absolutely necessary for the proper diagnosis and the meaningful follow-up.

One of the important goals of early diagnosis is to rule out other reasons for cognitive decline and behavioral problems that can be potentially curable. Thyroid problems, excessive medication use, severe depression, and unrecognized hearing and vision problems may all present as similar or identical to Alzheimer's. Even simple infection can trick us.

The treatment of Alzheimer's dementia in Down syndrome patients is uncharted waters. Only one out of four drugs available has been tested in these patients, and no drug is specifically approved by the Food and Drug Administration. Trying them, however, may prove very beneficial, as they may help with behaviors and stabilize functional abilities.

Other medications, like antidepressants, mood stabilizers and anti-anxiety medications, may also play a role when used judiciously and closely supervised and monitored.

There is yet another reality of this particular scenario. Many primary caregivers of Down syndrome patients in their 40s and 50s can be their aging parents and/or siblings. Not only do they have to face their own fears about forgetfulness and their own memory lapses, they are often unable to meaningfully plan ahead.

Legal issues are important, as well as financial ones. There has to be a plan of care in case of a caregiver's illness or, as horrible as it is to think about, death.

I strongly recommend that all involved use their local Alzheimer's Association, as well as local Down syndrome support groups and the National Down Syndrome Society. The help of local religious organizations also can be priceless. Government support is available, albeit limited. All of us professionals involved in diagnosis and treatment of dementia are more than willing to help.

Dr. Beata Skudlarska is a Bridgeport geriatrician. Send questions to Bridgeport Hospital Center for Geriatrics, 95 Armory Road, Stratford CT 06614 or geriatricmd@aol.com.

Down Syndrome, Sleep Problems Linked

from azpm.org:

Research under way at the University of Arizona is revealing a connection between quality of sleep and the learning and memory functions in children with Down Syndrome.

"It's well known that children with Down Syndrome are vulnerable to developing sleep apnea which results in pauses in breathing," UA psychology student Jennifer Breslin says. Breslin has been conducting a study looking at children with Down Syndrome and the occurrence of sleep apnea.

"if we can demonstrate that kids with poor sleep have poor cognitive outcomes, we can make a case for intervention and ultimately improving their behavior and learning ability," she says. "If we could give these kids a better quality of life, that would be awesome."

Sleep research focusing on adults with Down syndrome

From Edinburgh News:

 

Adults with Down's syndrome could be helped towards better health, thanks to research into the quality of their sleep.

 

A study by Edinburgh University and NHS Lothian is calling for adults aged 16 and over with Down's syndrome, and their carers, to take part in research into sleep patterns.

Sleep apnoea - pauses in breathing during the night - affects around two to four per cent of adults. It is more common in people with Down's syndrome, but the exact prevalence among adults with Down's is unknown.

Disrupted breathing during the night can affect a person's health, with an increased risk of heart attack, stroke and high blood pressure.

The research aims to recruit as many people with Down's syndrome as possible to fill in a questionnaire.

Following analysis of the home sleep study, 70 adults with Down's syndrome and sleep-disordered breathing will be invited to a clinical trial.