This year's Down's Syndrome Awareness Week's theme is My voice, My community. It aims to raise awareness about the fact that not everyone uses words to communicate and that following somebody's body language and actions might give us a better understanding of their thoughts, wants and needs. It also aims to promote the fact that people with Down's Syndrome (DS) are very sociable and that an effort should be made by every person to include such individuals in the society.
As people with DS experience accelerated aging, they will go through certain conditions and physical features at an earlier age than the general population. They are now commonly living into their 50s, 60s and 70s, which can be very challenging for the person, their families and the caregivers, especially when not well prepared.
We have made a list of the more commonly occurring medical conditions that a adult with DS might experience.
Sensory Loss: Adults with DS are at risk of early cataracts and keratoconus, and also conductive hearing loss. Undiagnosed sensory impairments are frequently mistaken as stubborness, confusion or disorientation. These conditions are very common and can be greatly improved with glasses, hearing aids, ear cleanings and environmental adaptations.
Hypothyroidism: The thyroid gland is involved in various metabolic processes controlling how quickly the body uses energy, makes proteins and regulates hormones. Thyroid dysfunction is common in adults with DS and can lead to symptoms of fatigue, mental sluggishness, weight fluctuations and irritability. Thyroid dysfunction is easily detected via a screening blood test, and treatment will usually involve taking thyroid medication that regulates abnormal hormone levels.
Obstructive Sleep Apnea: Adults with DS are at increased risk for this sleep disorder that leads to poor quality, non-restorative sleep. Signs of possible sleep apnea include snoring, gasping noises, daytime sleepiness, morning fatigue (difficulty getting out of bed), excessive napping and fragmented sleep. Undiagnosed or untreated sleep apnea leads to symptoms of irritability, poor concentration, behavior changes and impaired attention. It also can put a strain on the heart and lungs and cause high blood pressure. Sleep apnea can be detected via a sleep study performed at a sleep lab. In some cases, sleep testing can be arranged in the home.
Osteoarthritis: People with DS are typically hyperflexible. Over the years they can put increased wear-and-tear on their large joints (hips, knees, etc.). Adults who are overweight are at increased risk. For some individuals, the pain can express itself through negative behavioral changes. Untreated pain increases the risk of immobility.
Atlantoaxial Instability and Cervical Spine Concerns: The region of the spine located in the neck is called the cervical spine. In adults with DS there is increased risk of instability between the the “atlas” and the “axis,” the first and second spinal bones in the cervical spine that are located directly below the base of the head. This is known as atlantoaxial instability. If instability is present and arthritis changes occur in the spine, there is increased risk of damage to the spinal cord in that region.
A gradual narrowing of the spinal canal may also occur due to development of severe arthritic changes in the bones of the spine. This is called spinal stenosis. When chronic changes occur in the cervical spine that affect the spinal cord, symptoms including weakness in the arms or hands, walking abnormalities or incontinence may be observed.
Osteoporosis: People with DS are at higher risk for this disease, especially if there is immobility, low body mass, family history of osteoporosis, early menopause or longtime exposure to certain anti-seizure medications. Osteoporosis is screened for via a bone density test and can be treated through medication, as well as other exercise and lifestyle modifications.
Celiac Disease: This is a condition where one’s body cannot digest wheat gluten and wheat products, causing damage to the lining of the intestine and preventing absorption of certain nutrients. It can cause gastrointestinal distress, nutritional deficiencies and sometimes general irritability or behavior changes. Celiac disease can be screened for by a blood test but requires a biopsy and evaluation of the small intestine to confirm the diagnosis. It is usually primarily treated with a wheat-free diet.
Alzheimer’s Disease: Early-onset Alzheimer’s disease is more common in adults with DS than in the general population. Alzheimer’s disease and DS share a genetic connection, leading to the increased risk of dementia at an earlier age. DS occurs when an individual has a full or partial third copy of chromosome 21 (typically, people have two copies of each chromosome). Chromosome 21 carries a gene that produces one of the key proteins involved with changes in the brain caused by Alzheimer’s. Additionally, scientists have located several genes on chromosome 21 that are involved in the aging process and that contribute to the increased risk of Alzheimer’s disease. It is this unique property of chromosome 21 that makes the disease a more acute concern for people with DS than those with other forms of intellectual disability.
Emotional and Psychiatric Well-Being: As adults with DS grow older, there is increased risk of experiencing certain common mental health disorders like depression, anxiety, obsessive compulsive disorder and behavioral disturbances. A sudden or abrupt change in mood or behavior patterns warrants further investigation. Psychiatric illnesses can have different features in adults with DS, thus an evaluation from a mental health provider with special training or expertise in adults with intellectual disabilities is recommended. In addition to medical and psychological contributors to mood changes, it is important to be sensitive to any significant change in environment or social structure. Pay attention to any recent emotional upheavals that the individual may have experienced, including loss of a parent, loss of a housemate, departure of a beloved staff member, conflict at the workplace, etc. The effects of these changes should not be underestimated as individuals may experience great difficulty coping.
For an individual affected by DS, It is important to remain proactive and plan ahead for the future, as many issues may be more difficult to decide in the setting of a crisis. Below we look at various aspects that one may wish to consider, like housing, retirement and even end-of-life decisions. It is recommended that these decisions are made while the person still has capacity to decide on their own.
Staying socially connected: People with DS are generally very social, however, when growing older and slowing down, adjustments might need to be made allowing more flexibility with activities and schedules. Maintaining sources of enrichment, pleasure and stimulation are important, as boredom can lead to depression and negative behavior.
For adults with DS and Alzheimer's disease, identifying options for entertainment that do not frustrate the individual will be important. Familiar pictures and music enjoyed in the past may be both comforting and pleasurable.
Living environments and housing: It is necessary to periodically assess the living environment to identify and make adjustments that will help maintain good health, independence, privacy and dignity while ensuring safety. Take into consideration all aspects of needs: medical, physical, social, emotional and personal safety. Incorporate the preferences of the individual, with attention to safety and quality of life. Look for living environments that support “aging in place,” meaning that they can accommodate physical and functional changes that may be encountered with aging. For adults with Alzheimer’s disease, plan ahead for an environment that can support increasing needs over the span of the disease. A calm, predictable, familiar environment can foster a sense of security for individuals experiencing memory changes.
Retirement: Individuals with Down syndrome may wish to retire at an earlier age than typical retirees. Some may wish to continue to work as they age, sometimes with a modified schedule or simplified routine. If physical, functional or memory changes occur over time, a modified routine with a greater focus on recreational activities may be very beneficial, however, those with Alzheimer’s disease may eventually find the demands of leaving their home on a daily basis far too stressful. Flexibility allowing for an individual’s schedule to be altered as the disease progresses will be important.
End-of-life considerations: Discussing wishes about end-of-life is difficult for most people, however, tackling these topics proactively, at a moment when there is no crisis or urgency allows time to think, reflect, ask questions and ultimately arrive at an informed decision. End-of-life discussions generally encompass resuscitation wishes, thoughts regarding artificial feeding and overall goals of care, including any limitations in the aggressiveness of care, particularly in the setting of serious or terminal illness. Prior to any discussion of this sort, there needs to be proper identification of the health care decision-maker. Some individuals make decisions for themselves, whereas others will have legal guardians. It is extremely important to clarify this information and periodically review and update it.
Helpline: 0333 1212300
Herefordshire Down's Syndrome Support Group
Telephone: 0208 614 5100 or 0333 121 2300 (not premium rate)*
Email: info@downs-syndrome.org.uk
