Category: General/Lifestyle

Down Syndrome, or Trisomy 21, is a genetic disorder and because it causes some classic external features, particularly noticeable in the face, it is recognized easily. I’m sure everyone who is reading this knows someone, has met or will meet someone with Trisomy 21 in their lifetime. Are they different? Sure! Are you different? You bet! Do you want to be an exact replica of everyone else? Nope (or at least I hope not)! John Langdon Down was an English physician who ascribed the characteristics of the syndrome in 1866. It had been recognized previously, but no other physician had specified it as a distinct syndrome. In 1959, Jérôme Lejeune, a French physician identified it as a genetic disorder.

Every person has 23 pairs of chromosomes equaling 46 in total. Individuals with Down Syndrome have three #21 chromosomes so they have a total of 47. There are also three different kinds of Down Syndrome and there is not enough time or room to discuss them here. The extra chromosome can come from the mother or the father. The only known factor linked with an increase in risk of Down Syndrome is maternal age. The older the mother, the higher the incidence of the fetus having Down Syndrome.

There are about 6,000 children born per year with Down Syndrome and everyone is different in their abilities. Intellectual disability can range from mild to severe. Regardless of their intellectual abilities, they all have a set of characteristic facial features. Some of the features are slightly slanting eyes, flattened facial features, small or misshapen ears and a small head with a short neck. Other features may include a single crease across the palm of the hand, short stature and poor muscle tone. There may also be increased incidence of heart defects and hypothyroidism. As they age, celiac disease is more common as is gastroesophageal reflux disease (GERD).

There are about 6,000 children born per year with Down Syndrome and everyone is different in their abilities.

One of the bigger concerns with aging in a person diagnosed with Down Syndrome is early onset Dementia of the Alzheimer’s Type (DAT). The frequency ranges all over the board, depending on the source, from 50% to nearly 100%. Symptoms may be seen as early as age 35, but are typically seen in the mid 40’s to 50’s. DAT is caused by plaques and tangles in the brain caused by amyloid protein. Unfortunately, one of the genes on chromosome 21 codes amyloid protein. This means that the person with Down Syndrome has 3 genes working to code that particular protein. Early symptoms may be irritability, withdrawal, loss of previously gained skills and changes in behavior. The point is to be aware of the possibility and observe closely for early signs. As individuals with intellectual disabilities are living longer this may become a new health dynamic in the field of IDD.

Just remember to celebrate the differences in everyone we meet. Be vigilant in knowing what conditions a person with Down Syndrome may experience and seek early treatment when symptoms are noted or behavior changes.

Let’s face it, nobody seems to be getting any younger these days, including people with disabilities. That makes access to competent health care a pretty big deal for all of us. The ability to communicate our symptoms to the physician is critical, even if we need an interpreter to speak for us. Most everyone knows how important early diagnosis is to the outcome of an illness.

Many people with complex disabilities have been aspirating (swallowing down the wrong tube) for years. While you and I might promptly seek medical attention for this uncomfortable symptom, persons who cannot speak might only cough, or refuse to eat offending substances to let us know that something is awry. The earlier that pattern is identified and fixed, the better the person’s quality and quantity of life.

The ability to keep moving as we age is an important predictor of our life expectancy. Finding a way for those with significant physical problems to alter gravity’s impact on their body parts is the biggest challenge in any service. Remember, gravity is the factor that causes all of our soft tissue to gradually slide to the floor as we age. For those who don’t move on their own, it is the major contributor to all kinds of deformity that can then alter the function inside the body.

The ability to keep moving as we age is an important predictor of our life expectancy.

Now that the majority of individuals with significant disabilities are living outside of state-operated congregate care settings, we all have to face the (sometimes daunting) task of finding competent health care in a community that may judge the person on the basis of how he/she looks: “Mortality among people with severe cognitive impairments as well as allied medical conditions who move from institutions to the community has been the most recent issue facing states.” (Hayden, 1998).

This has led to some fairly outrageous conclusions about where people ought to be living, namely, that institutions are somehow safer for persons with complex health care issues. Sometimes we forget that many congregate care settings were sued into doing the right thing, and that competent health care was often a direct result of class action litigation. The question we need to ask, not just for people with disabilities, but for all of us, is a bit more complex. Just what does it take to assure that all of us have access to health care that assures an adequate level of wellness and safety? Being old may determine how aggressively we are treated and so too, unfortunately, may a person’s physical appearance affect these decisions. Having someone in our lives who isn’t paid to care about us is another factor that can profoundly impact on decisions about health.

One study established that early identification of health destabilization was the major factor in reducing preventable deaths in persons with complex physical disabilities (Hodges, 1984.) This study demonstrated that the following contributed significantly to effective health care management:

• Having a person with sufficient skill, opportunity and authority to implement effective health care management.
• Obtaining health care information sufficient to detect and act upon early patterns of health deterioration.
• Having adequate health care advocacy to provide to persons with any level of health risk the same care that would be provided to persons without disabilities.

Most persons with profound physical and intellectual disabilities have no effective means of telling their caretakers when they do not feel well. Most community physicians and nurses have no formal training in how to assess individuals without verbal communication skills. Worse yet may be a widely-held belief on the part of the health care practitioner that these individuals may not have a life worth living. Withholding of treatment (widely practiced as Do Not Resuscitate) may be practiced more frequently than appropriate.

Those persons who have learned to communicate creatively when they cannot speak can use self-injurious behavior, such as head banging or hands-in-mouth, to tell us when they have a stomach ache. We may wind up giving these creative communicators drugs that slow down the GI tract, such as Risperdal and Prozac because we perceive them as “behavior problems.” When the person winds up with a bowel obstruction, diagnosis may be delayed because the unique form of communication is being treated rather than the root cause. 

References:

Hayden, M.F. Mortality Among People with Mental Retardation Living in the United States: Research Review and Policy Application. Mental Retardation, Vol 36, No 5, October 1998, p. 345

Brehon Institute for Human Services THE HODGES REPORT, Tallahassee, FL: January, 1984

Most of the individuals we support take one or more medications which are often a critical part of a good outcome or even for continued life. As a part of responsible supportive care it is important to be aware of the potential negative effects that many medications may have. All medications have negative side effects. Some have more than others.

“An adverse drug reaction (abbreviated ADR) is a term that describes harm associated with the use of a given medications at a normal dosage during normal use. ADRs may occur following a single dose or prolonged administration of a drug, or result from the combination of two or more drugs. The meaning of this expression differs from the meaning of “side effect”, as this last expression might also imply that the effects can be beneficial.

“…in 2009, there were nearly 4.6 million drug-related visits to U.S. emergency rooms nationwide,8 with more than half due to adverse reactions to prescription medications – most of which were being taken exactly as prescribed.9 When you add in the growing numbers of people who are using these drugs recreationally or due to addiction, you begin to see the magnitude of the problem that the pharmaceutical industry is propagating”.

Source

Specific statistics regarding negative outcomes due to adverse medication effects are surprisingly difficult to locate, even from sources such as the CDC. The easiest information to locate involves statistics about the number of deaths related to accidental or intentional (also referred to as, the patient’s fault) overdose with prescription painkillers. These now cause more deaths annually than use of all Schedule 1 (illegal with no therapeutic benefit) medications combined.

Due to the very real potential for aversive medication effects people should only take medications that provide a definite benefit.

While prescription medications need to be managed by a physician, family members, guardians and other providers of support and services have a very important role to play when it comes to medication safety. Caregivers have the distinct advantage of proximity to the person on a regular basis and they have a much better chance of noticing subtle changes that may indicate problems. There are several steps that can be taken to ensure the safest possible environment.

1. Know each of the medications the person is taking, including over-the-counter and herbal medications. Most individuals with specialized needs take more than one type of medication. While there can be adverse effects with the use of even a single medication, the likelihood increases dramatically with multiple drugs. The fact that some medications may be obtained without a prescription does not make them safe, particularly when taken in combination with other drugs. Herbal medications and other supplements are not held to the same requirements with regard to standardization of dosage. The effects of these agents, particularly when taken with other drugs, are in many cases less well known and can be unique to the drug combination and/or the person.
2. Know the specific reason each medication or supplement is being used. This sounds foolishly simple but it is very important. If the medication is not having the intended effect it is important to convey this information to the prescriber so appropriate changes can be made. In many cases individuals have been continued on medications unnecessarily because no one recalls whey they began taking them in the first place. Why risk the potential negative effects of a medication, not to mention the additional expense, when the medication is completely unnecessary?
3. Keep track of changes in dosage. The most likely times for medications to exhibit negative effects are when the medication is initiated, discontinued or when dosages of the medication are changed.
4. Familiarize individuals and/or their caregivers with the known side-effects of each of their medications. Dry mouth, constipation, bruising, dizziness, uncontrolled abnormal movements, behavioral changes and many, many other side-effects need to be reported to the prescriber at the earliest possible time. Encourage medication users and/or their caregivers to trust their gut when it comes to reporting their concerns. People are not obliged to stick to the listed side-effects of the medications they take and have been known on occasion to make up their own.
5. Be a good advocate. Due to the very real potential for aversive medication effects people should only take medications that provide a definite benefit. While it is inappropriate to dictate care to the prescriber, all but the most unreasonable physicians will take a few moments to listen to concerns of their patients or their guardians. Negative outcomes can often be traced back to a failure to communicate valuable information to the prescriber.
6. Follow each of the above steps not just for the individuals you serve but also for yourself and your loved ones. While people with numerous health issues are more likely to experience complications with medications, anyone can have problems, up to and including death. In many cases this is preventable with a small degree of vigilance.