Down Syndrome
More than half of people with Down syndrome (DS) will survive to age 50, and half of those will be alive at age 65 (197). Most people with DS are living in the community with family or in supported living.
They require increased health care surveillance as they age due to higher prevalence of numerous clinical conditions. Access to appropriate health care may prove difficult for people with DS, as they may have difficulty with communication or behavior and typical primary care practices may not meet their needs. Specific health screening programs have shown a dramatic increase in recognition of unmet health care needs (23). Rehabilitation clinicians can assist families and primary care physicians to provide optimal maintenance of function throughout life.Mental Health
Mental health problems in people with DS have been well described in the literature. An elderly (>65) group was well described by Cooper and colleagues as having increased dementia, anxiety, and depression when compared to a younger group (190,198). Symptoms of Alzheimer’s may be seen as early as age 35 and will be noted in 75% of people with DS by age 60 (191). A variety of causes have been postulated for the high incidence of Alzheimer’s/dementia in people with DS, including antioxidant stress (199) lower bioavailable estradiol in women (200), and decreased alpha and beta secretase activity (201).
Treatable comorbidities, which may look like Alzheimer’s, must be ruled out. These include hypothyroidism, visual and hearing impairments, depression, and epilepsy, all of which are significantly more common in DS than in other populations with Alzheimer’s (202). Likewise, systemic illness, infection, drug effects, and alcoholism must also be eliminated as possible treatable causes of Alzheimer’s symptoms (203).
Depression may cause decreased function in people with Down syndrome (177,198,203,204).
Experiences of loss may trigger depression, as may changes in work or living situations. Depression may be treated with counseling; however, training or experience with this population will be needed for counseling to be effective. Treatment may also include medications. The use of selective serotonin reuptake inhibitors (SSRIs) in DS has been anecdotally described, but no randomized controlled trials have been reported to date (203,205-208).Endocrine System
Thyroid disease is well described as a comorbidity of DS (23,172,173,189-191,197,202-204,209-212). Hypothyroidism is found in 15% to 50% of adults with DS (197,202,203,213-215). Thyroid-stimulating hormone levels should be assessed annually in patients with DS (203).
Diabetes mellitus may have a higher prevalence in adults with DS, but is rarely discussed in the literature (202,203,216,217). McDermott and colleagues found fewer developmentally disabled adults with diabetes than control adults in a large primary care practice (177). Typical yearly testing and treatment as needed should suffice for surveillance.
Otolaryngology
Hearing loss is extremely common in people with Down’s syndrome and may not develop until adulthoo(189,197,203,218,219). Poor hearing may exacerbate preexisting communication difficulties and present as behavior problems. Auditory testing is recommended at least every two years in adults with DS.
Sleep apnea is also a common problem for adults with Down syndrome (220-224). The cause is likely multifactorial, with obesity (225), central (brainstem respiratory control) mechanisms (222), and obstructive (221,223,226) sources all implicated. Sleep apnea is associated with worsened cognitive skills (227), and may be successfully treated in a variety of ways (226,228,229). A sleep study is indicated to identify the cause and therefore predict the successful treatment for sleep apnea.
Musculoskeletal
Premature arthritis has been reported in adolescents and adults with Down syndrome and may be associated with joint subluxations and dislocations (197,230).
Hip instability may occur or worsen in adults with DS and is associated with decreased ambulation status (231). Foot pain and arthritis may be associated with severe pronation and atypical gait; however, very little research has been done in this area (232). X-rays are indicated if ambulation status deteriorates. Treatment may begin with NSAIDs, but further evaluation and possible referral is indicated if typical arthritis pain relief strategies are not sufficient to maintain function.Osteoporosis is also more common in adults with DS and is found in both men and women at a significantly younger age than in the general population (233). Long bone and vertebral compression fractures are common (234). Decreased physical activity, short stature, early menopause, low muscle tone, and increased incidence of thyroid disease may all be factors in osteoporosis in DS (200).
Atlantoaxial Instability
One to two percent of individuals with DS will have cervical subluxation or symptomatic atlantoaxial instability (AI) (235). Routine monitoring via x-ray is no longer recommended, but vigilance for progression is recommended. Concerning symptoms include new torticollis, weakness, neck pain, change in gait, change in bowel or bladder function, increased reflexes, or other symptoms of spinal cord compression (236). Presentation of these symptoms requires immediate stabilization and referral for surgery consideration (197,235,236). Outcomes from surgery are not always acceptable (237,238).
Cardiac
Nearly half of infants born with Down syndrome will have a structural heart anomaly. Most of the typical congenital heart abnormalities will have been corrected in infancy. Increased incidence of mitral valve prolapse in adults with DS has been reported (197,203,209). Careful auscultation should reveal any change in heart murmurs, and electrocardiogram and chest x-ray can follow.
Cardiovascular disease (CVD) is not well studied in people with Down syndrome.
As people with DS live longer, become more obese, and less active, it is reasonable to expect to see increasing rates of CVD (173,225,239). Several authors have noted decreased cardiovascular capacity in people with DS (240-244). A 2005 Cochrane review of exercise training programs for people with DS revealed only two small trials of good quality. Of these, only maximal treadmill grade was improved after the training program. Other studies have investigated components of fitness such as leg strength and capacity, as noted previously. Small uncontrolled trials not included in the Cochrane review have shown only limited aerobic improvement with exercise training programs (243,245).Obesity
Obesity is a lifelong issue for many people with Down syndrome. As many as 70% of adults with DS are reported to be obese (225,246,247). Health promotion and group exercise classes have been successful at significantly reducing body fat percentages in short-term programs (240,241,243,245,248-250).
Sexual Functioning
There is little published information regarding sexual functioning in adults with DS. It has long been held that males are infertile and females are fertile or subfertile based on histology of gonads and serum levels (251,252). There are case reports of men and reports of small series of women who have been fertile (253,254). The male offspring are reported to have no abnormalities, congenital or genetic. In contrast, the female offspring are reported to have DS, be chromosomally normal, or have other congenital defects or ID. The need for education and counseling, monitoring for sexual abuse, and social support is obvious.
Health Maintenance
People with Down syndrome require the usual screenings for testicular and cervical or breast cancer and hypertension. Celiac disease is now recognized as a common condition associated with DS, and monitoring should be a part of health maintenance (255,256). Dental health is important, as gingivitis and periodontal disease are more common in people with DS (257-260).
Cataracts and keratoconus both occur with increased frequency in people with DS. Regular ophthalmologic examinations are indicated to evaluate for these conditions. Health care screening and promotion programs have demonstrated improved detection of symptoms and compliance with health recommendations (172,203,225,248,249,261). Sexual health should not be ignored, and often contraception or suppression is prescribed for women for hygiene problems with menstrual cycles (147,195).Williams' Syndrome
Williams’ syndrome (WS) is caused by a gene deletion on chromosome 7. It is rare, occurring in 1 of 20,000 live births (262). Devenny and colleagues have been following a group of 15 adults with WS, some of whom have participated in a 15-year longitudinal study on aging in adults with ID. The participants with WS demonstrated early and rapid decline in long-term episodic memory not found in other adults with ID. Verbal short-term memory was better than their peers with ID and did not decline with age (262,263). No association was found with physical or mental comorbidities. Because Williams syndrome has only been clearly described within the current generation of adults, few people have been extensively studied, and we do not yet know the causes of the apparent precocious aging noted in this population.