Health Care Needs of Adults with Down Syndrome

Abstract

Individuals with Down syndrome (DS) have a longer life expectancy than they did even 25 years ago. They need all the periodic health screenings other adults receive. In addition, there are certain problems related to DS that must be assessed periodically as well. Primary care providers, such as doctors, nurse practitioners, and physician assistants, may not be aware of the needs of individuals with Down syndrome and miss diagnoses that, if treated, could improve the quality of life of those individuals. Nurses and case managers responsible for the care of persons with Down syndrome must be aware of these specific needs and bring them to the attention of the primary care providers as indicated. This article reviews both the recommended health maintenance evaluations for all adults and for those with Down syndrome.

Keywords: Down syndrome , Preventive Health Services

INTRODUCTION

Down syndrome (DS) affects many body systems, leading to both acute and chronic problems. Often these problems are treatable, and treatment can lead to major improvements in overall health status as well as increased ability to function in everyday life. In addition to routine health screening prescribed for all healthy adults, nurses and case managers must be aware that there are certain syndrome-specific concerns that should also be routinely monitored for adults with Down syndrome.

DOWN SYNDROME

Down syndrome (DS) is a genetic abnormality involving trisomy (triplicate instead of duplicate) of chromosome 21. In about 5% of individuals with DS, the extra copy is attached, or translocated, to a different chromosome, often 14 or 21. Two to 4% of individuals with trisomy 21 have mosaicism, in which some body cells are trisomic for chromosome 21, and other body cells have normal disomy¹.

Down syndrome affects multiple body systems. The central nervous system (especially in terms of mental retardation and Alzheimer's disease), the vision and hearing systems, cardiac, pulmonary, endocrine, gastrointestinal, skin, blood, genitourinary (gonads), teeth, immune, and skeletal systems may all be affected. There may be mental health issues in addition to the physical concerns. Individuals with DS experience premature aging, again affecting all body systems². The elderly person with DS can present with atypical symptoms for common problems and infections³. Because of the accelerated aging in those with DS, problems in adults with DS may present in ways more typical of the elderly than of age mates, thereby requiring even higher levels of suspicion on the part of the nurse or case manager.

ROUTINE HEALTH MAINTENANCE

Certain health maintenance screenings should be performed periodically, at intervals of 1-5 years for adults. This includes height and weight, blood pressure, Pap smears, dental examinations, and immunizations⁴. Tetanus-diphtheria (Td) boosters should be given every 10 years. Pneumococcal immunizations and yearly influenza immunizations should be given to adults by age 65, and Hepatitis B immunizations are recommended for those in high risk groups, including those in congregate living situations. Blood cholesterol screening should begin no later than age 35 for men and 45 for women, although those with family histories of hypercholesterolemia or early cardiovascular problems should be screened earlier. Dental examinations should be performed 1-2 times yearly. Beginning at age 40, women should receive clinical breast examinations yearly, with mammograms every other year between ages 50-75. Individuals at high risk for diabetes, including obesity and family history, should be screened periodically. Diabetics should have annual urinalyses to monitor microalbuminuria. It also may be appropriate to screen individuals older than 60, particularly smokers, with annual urinalysis to look for bladder cancer. Often included in health maintenance recommendations are occult blood or sigmoidoscopy/colonoscopy for colon cancer, rectal examination or prostate specific antigen (PSA) for prostate changes, and testicular and glaucoma examinations. Consideration should be given to use of aspirin prophylaxis to diabetics without contraindications and others at risk for cardiovascular problems. Likewise, a daily multiple vitamin, which is iron free for men and postmenopausal women, is also beneficial.

All adults also should receive periodic screening and counseling regarding substance abuse, violence, exercise, diet, and smoking. Additionally, discussions should occur with family members regarding advanced directives for health care. A good source for this discussion is 5 Wishes. It can be found at the website Aging with Dignity at: www.agingwithdignity.org/5wishes.pdf.

MENTAL HEALTH

One of the more common concerns in adults with Down syndrome is Alzheimer's disease (AD). Alzheimer's disease is a degenerative dementia⁵. Nearly 10% of the general population older than 65 develops AD. Diagnosis requires a decline in multiple cognitive areas including memory, learning, cognitive abilities, adaptive behavior, communication, and movement. An individual with AD may become lost in familiar settings, become confused during a routine task, begin to demonstrate word finding problems, or forget skills such as dressing. Although the amyloid plaques and tangles associated with AD are present even in the brains of children with DS, this does not correlate with clinical disease; some other factor seems to be involved^{6, 7}. Diagnosis of AD in DS is complicated by the pre-existing cognitive impairments. Eight percent of individuals age 35-49 with DS will meet criteria for a diagnosis of dementia, rising to 75% in those over 60 years of age. This compares to a rate of 30-50% of the general population by age 85-90⁸. The important thing to remember is that not all cognitive or behavioral changes in individuals with DS must be related to AD, particularly in those under the age of 60. Other, potentially treatable, disorders must be considered. These include depression or other psychiatric problems, unsettling changes in routine, illness or malignancy, endocrine (particularly hypothyroidism) or metabolic problems, sensory impairment (both vision and hearing), cord compression, intoxication either by prescribed medications (polypharmacy) or self-administered substances such as alcohol, and infection or accidents⁷. Individuals with DS and epilepsy or head injury have an increased risk of AD, whereas higher cognitive function may be protective⁹. Rating scales, such as the Dementia Scale for Down Syndrome¹⁰ and CAMCOG¹¹, are available for use in assessing for dementia in adults with disabilities. It is also wise to obtain baseline functional behaviors so changes can be monitored. Those who have been able to write may gradually lose their ability to write their names. Others may forget how to get dressed or empty the dishwasher. Some may have increasing difficulty using public transportation or may become lost in familiar areas. Old information and abilities tend to be retained the best. Cholinergic medications, such as Aricept (donepezil), Reminyl (galantamine), Exelon (rivastigmine), and Cognex (tacrine) can slow, but not stop, the rate of decline.

Depression rates for individuals with DS range from 6-13%, paralleling the rate in the general population¹². The diagnosis of depression typically relies on self-report, which may be difficult for individuals with DS to accurately describe. Self-talk, which is normal in those with DS related to their developmental levels, may increase in depression and may lead to a misdiagnosis of dementia or psychosis^{13, 12}. Other potential causes of depressive-like symptoms include hypothyroidism, vitamin B12 deficiency, and AD. Major depression in those with DS can present as fatigue or exhaustion, sadness (loss of humor, spontaneity), loss of concentration or problems with completing tasks, irritability and moodiness, verbal aggression, agitation, sleep disturbance, change in weight, self-absorption, behavioral rigidity, a general lack of interest and participation in most activities, and psychomotor retardation, including activities such as dressing and eating¹². Other behaviors noted, although with less frequency, included fearfulness and increases in compulsive behaviors.

Obsessive-compulsive disorder (OCD) is present in the general population at a rate of 1.5-3.1%. The rate of OCD in those with DS has been found to run between 0.8-4.5%¹⁴. Diagnosed OCD in the DS population tends to present as compulsions, especially toward ordering and tidiness. Individuals with DS may want to maintain consistency to the point that there may be a question of obsessive-compulsive disorder (OCD)¹⁵. However, the “groove” of DS is not necessarily pathologic. Trying to force an adult out of the routine may cause the person to more stubbornly insist upon maintaining it. Elimination of stressors which may be exacerbating the problem, and slow, gentle attempts to ease the need for the routine are more likely to be helpful in the long run. Mental health professionals working with adults with DS should be familiar and comfortable with this population.

SEIZURES

There are two lifetime seizure peaks in those with DS: one in infancy and the other in adulthood¹⁶. In a group of adults with DS in an institutional setting, up to 55% had seizures, generally tonic-clonic or myoclonic. Seizure activity is related to the onset and progression of AD.

VISION

Up to 46% of children with DS can have substantial visual deficits related to strabismus, high refractive errors, and anisometropia¹⁷. Underaccommodation also is found, even in individuals without refractive error, and may not be correctable with glasses. This can interfere significantly with reading¹⁸. Keratoconus and cataracts are also more common, with 15%-65% of adults with DS developing a disabling level of cataract^{16, 19} and 5-20% developing keratoconus^{16, 20}. The risk increases with age. A visual examination should be completed no less often than every other year.

HEARING

Hearing loss in individuals with DS may be conductive, sensorineural, or mixed. Sixty to 80% of children with DS and 25% of adults may have middle ear problems with hearing loss^{16, 21}. Decreased pinna size, small auditory canals, cerumen impaction, hypotonia, Eustation tube dysfunction, and recurrent otitis media all contribute to conductive hearing loss²². Sensorineural hearing loss appears to be related to ossification of the cochlear nerve and other abnormalities of the hearing system. An objective hearing evaluation should be performed no less often than every other year. Routine visits to an otolaryngologist may be needed for cerumen disimpaction.

DENTAL

There is a decreased incidence of dental caries, but an increased risk of periodontal disease in persons with DS²². Teeth are often small and crowded or missing. Dental care should occur at least every 6 months.

OBSTRUCTIVE SLEEP APNEA

Individuals with DS are at risk for obstructive sleep apnea (OSA) for several reasons. The small midface and relatively large tongue, obesity, and hypotonia all contribute²². Prevalence rates for OSA in persons with DS range from 50-100%²². Sleep may also be more fragmented even in the absence of sleep apnea²³. Poor sleep can lead to decreased daytime alertness with subsequent impairment of activities of daily living, irritability, and mood changes. These may be mistaken for learning problems, behavior problems, or dementia. Snoring, gasping, apnea, morning headaches, and daytime sleepiness are all possible indicators of sleep apnea. Long term sleep apnea can be associated with systemic hypertension, pulmonary hypertension, right-sided heart failure, and decreased intellectual abilities²⁴. A sleep study (polysomnogram) is the gold standard for diagnosis of OSA. Adenotonsillectomy, uvulopalatoplasty, and continuous positive airway pressure (CPAP) may all be considered as treatments²². Care must be taken not to remove too much of the adenoids, as they may be supportive structures in individuals with DS. It may take time and patience for the person with OSA to adjust to the CPAP. Be aware that there are a variety of mask styles and pressures, and if one does not work well, another may be better tolerated. Some individuals may better tolerate BiPAP. Prone positioning, elevating the head of the bed, and keeping the individual off his or her back during sleep may help those who cannot tolerate CPAP.

MUSCULOSKELETAL

Defects in collagen production are associated with DS. These collagen defects in turn to lead to ligamentous laxity. In the cervical spine, this can lead to instability between the atlanto-occipital or atlanto-axial joints²⁵. In the U.S., a lateral flexion, extension, and c-spine x-ray for cervical spine instability should be performed if not done previously (usually recommended at 3-5 years of age). There is some controversy as to whether they need to be repeated. However, the American Academy of Pediatrics and the Down Syndrome Medical Interest Group both support one radiograph by the age of 10, without the need to rescreen asymptomatic individuals. Some anesthesiologists may be more comfortable having confirmation of cervical spine stability before any procedures requiring general anesthesia with intubation. Neurological signs of cervical cord compression include changes in gait, weakness, neck pain, headaches, hyperreflexia, and torticollis²⁵. Individuals with known c-spine instability should avoid activities that may hyperextend or flex the neck.

The ligamentous laxity also predisposes to premature (in the 30s) degenerative joint disease, with osteoarthritis being especially common in the spine, hips, and knees¹⁶. Spinal degeneration may also cause parasthesias, numbness, and pain. Fractures related to osteoporosis are also common. Acetaminophen remains the first line medication for osteoarthritis pain.

ENDOCRINE

Hypothyroidism occurs in 20-40% of individuals with DS. Annual screening of thyroid-stimulating hormone (TSH) should occur, with the free T-4 level evaluated if the TSH is elevated. Mild elevations should be re-evaluated in 6-8 weeks. Diabetes mellitus is also more common in persons with DS²⁶. Down syndrome growth charts should be used to plot growth in childhood and adolescence.

GASTROINTESTINAL

Gastrointestinal problems are very common in individuals with DS. Physical problems such as duodenal atresia, tracheo-esophageal fistulas, esophageal atresia, imperforate anus, and Hirschprung's disease will likely be identified in childhood. Celiac/sprue has been identified in 4-17% of individuals with DS²⁷. HLA-DQ heterodimer is a marker for genetic predisposition for celiac. Testing for endomysial antibodies can guide the need for intestinal biopsy. Since individuals with DS can have IgA deficiency, total IgA testing should be performed simultaneously to rule out false negatives. A single test does not rule out celiac disease for the remainder of the individual's lifetime, and further testing may be needed.

Constipation is also quite common and may be related to both hypotonia and hypothyroidism. Constipation can lead to decreased appetite, behavioral problems, prolapsed rectum, or more serious problems such as toxic megacolon or bowel obstruction. Individuals with DS, like other adults, may also experience gastroesophageal reflux, with a rate of 18% documented in one study¹⁶.

CARDIOVASCULAR

About half of all individuals with DS have congenital cardiac defects, with AV canal defects, atrioseptal and ventriculoseptal defects, and tetrology of Fallot being the most common^{28, 29}. Valvulvar problems are also common in adults with DS, even those without symptoms. There is a 26.7% incidence of mitral valve prolapse and 13-17% incidence of regurgitation of the mitral and aortic valves³⁰. Prophylaxis for subacute bacterial endocardititis (SBE) should be given for high-risk individuals. Certainly new onset murmurs deserve careful evaluation. Atherosclerotic heart disease risk increases with age, with a cumulative rate of 13%¹⁶. Van Allen noted that 3 of 38 institutionalized adults with DS had a documented myocardial infarction. Early aging in individuals with DS affects the cardiovascular system as well²⁹.

RESPIRATORY

Approximately half of institutionalized adults with DS develop pneumonia, with increasing risk of chronic lung changes attributed to aspiration, likely related to GE reflux, noted with increasing age¹⁶. Some individuals with DS have increased susceptibility to infection related to decreased immunoglobulins, especially IgG³¹. Pneumococcal vaccination is recommended. Children with DS, especially those with even a minor pre-existing illness, may be at increased risk for high altitude pulmonary edema³². It may be worth maintaining a high index of suspicion for an adult with DS who is traveling to higher altitudes as well.

GENITOURINARY

Gonadal function tends to be decreased in individuals with DS³³. Males tend to have micropenis and small testicles, and are rarely fertile, although at least one case of a male with DS impregnating a woman has been verified³⁴. Menopause also comes early, with 87% of the women having completely ceased menstruating by 46 years, and onset for some women beginning in their 30s. This predisposes women with DS to postmenopausal health problems³⁵. Routine gynecological health examinations should be performed. Although a woman with DS may not be known to be sexually active, the risk of sexual assault is increased in individuals with disability. Contraception should be considered for any woman who is sexually active. A variety of methods are now available, including patches. Although the oral contraceptive pill and patches both have week-long placebos each month for menstruation, it is not necessary that a woman menstruate monthly. Both oral and patch contraception can be used continuously. However, use of the placebo one week every 3 months can reduce the risk of breakthrough bleeding. A woman who has difficulty with a standard gynecology examination may be examined under anesthesia or sedation if she is undergoing other procedures, by ultrasound, or by a finger guided Pap smear using a cytology brush³⁶. There is some evidence that breast cancer may be less common in women with DS, and perhaps mammography can be done less frequently than recommended in the general population³⁷. Urinary tract infections (UTIs) are fairly common in DS. UTIs can present differently in the older person. Symptoms of UTI may include lethargy, confusion, delirium, anorexia, incontinence, functional decline, falls, weight loss, or a mild increase in respiratory rate, rather than urinary symptoms or fever^{3, 38}.

SKIN

Dry skin occurs in up to 90% of individuals with DS. Use of sun screen and moisturizers is important. Atopic dermatitis is also common and may need treatment with topical steroids. Small benign tumors of sweat glands (syringomas) are also common. Alopecia areata may occur, and mottling of the skin, called cutis marmorata, is common as well³⁹.

GENERAL CONSIDERATIONS

Several questions can help health care providers characterize medical problems and develop a differential diagnosis. The nurse or family who is sending a consumer with DS to a health care provider for a medical problem should also provide information about⁴⁰:

1. Age
2. Mode of onset of symptoms
   1. any events coincident with onset
   2. similar episodes in the past
   3. sudden or gradual onset
   4. duration of the symptoms
3. Location of symptoms
4. Characteristics of symptoms (dull, sharp, burning pain)
5. Any radiation on symptoms
6. Factors that make the problem better or worse
7. Past treatment and evaluation
8. Course of the symptoms
9. Effect of the symptoms of activities of daily living

Some individuals with DS may not have good communication skills. It may therefore be helpful to describe any strange behaviors and patterns to the behaviors that have been noticed by care providers⁴¹.

SUMMARY

Individuals with DS should receive the same health maintenance care that other individuals receive. Due to the multi-system impact of DS, certain additional, syndrome-specific screenings are also necessary. Care should be taken to rule out vision or hearing loss, hypothyroidism, or some other treatable problem before a diagnosis of AD is given. The nurse or case manager also needs to be alert for acute or chronic problems for which the DS population is at greater risk and which may present in atypical ways. It must be remembered that many community care providers are not aware of the common treatable medical problems experienced by individuals with DS. The nurse caring for these individuals has the potential to make a significant improvement in their quality of life by ensuring common conditions are screened for and treated.