Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

doi:10.1016/S0074-7750(10)39004-5

International Review of Research in Mental Retardation

Volume 39, 2010, Pages 107-126

https://doi.org/10.1016/S0074-7750(10)39004-5 Get rights and content

Abstract

Expectations for the life course of individuals with Down syndrome (DS) have changed, with life expectancy estimates increasing from 12 in 1949 to nearly 60 years of age today (Bittles & Glasson, 2004; Penrose, 1949). Along with this longer life expectancy comes a larger population of adults with DS who display premature age-related changes in their health. There is thus a need to provide specialized health care to this aging population of adults with DS who are at high risk for some conditions and at lower risk for others. This review focuses on the rates and contributing factors to medical conditions that are common in adults with DS or that show changes with age. The review of medical conditions includes the increased risk for skin and hair changes, early-onset menopause, visual and hearing impairments, adult-onset seizure disorder, thyroid dysfunction, diabetes, obesity, sleep apnea, and musculoskeletal problems. The different pattern of conditions associated with the mortality of adults with DS is also reviewed.

Section snippets

Skin and Hair Changes

Adults with DS experience a number of dermatological and autoimmune symptoms characteristic of accelerated aging, including premature graying of the hair, hair loss, and wrinkling of the skin (Lott & Lai, 1982). Significant differences in the skin and chronological age of the individual have been found in post-mortem examinations of the skin of adults with DS (Edwards, 1978). Further, sun-exposure may have a greater effect on skin wrinkling for individuals with DS than for the general

Menopause

Women with DS are found to experience menopause starting at an earlier age than other women with ID and than women in the general population (Carr and Hollins, 1995, Cosgrave et al., 1999; Schupf et al., 1997). An early report found that 87% of women with DS and 69% of women with ID had stopped menstruating by age 46. All women with DS had stopped menstruating by the age of 51, and all of the women with ID by age 54. An estimate of the median age at menopause for women with DS of 47.1 is 2

Vision Impairments

Visual impairments (44–71%) and eye abnormalities are common among aging adults with DS (Gardiner, 1967, Jacobson, 1988, McCarron et al., 2005). The prevalence of visual impairments does not appear to be related to level of intellectual functioning among individuals with DS, and is greater than the prevalence (8–50%) observed in older adults with ID without DS (Gardiner, 1967, Haveman et al., 1989, Janicki and Jacobson, 1986, Moss, 1991). Comparable to visual acuity in the general population,

Hearing Impairments

Age-related hearing loss is more common among adults with DS compared to the general population, and appears to have an earlier age of onset. High-frequency sensorineural hearing impairments (such as presbycusis) in adults with DS onsets about 20–30 years earlier than in their peers with ID, and about 30–40 years earlier than in the general population (Buchanan, 1990). Rates of hearing loss among adults with DS range from 12 to 72% (Howells, 1989, Prasher, 1994b, Van Buggenhout et al., 1999),

Seizure Disorder

The rate of seizures increases with age for individuals with DS, especially for individuals suffering from comorbid dementia. Early reports of the rate of seizures were significantly lower than more recent prevalence estimates. One early estimate of the rate of seizures was 12.2% for adults with DS over the age of 55 and 15.8% for adults over the age of 60 (Veall, 1974). However, early estimates were consistent with more recent estimates that abnormal readings reflective of seizure activity are

Thyroid Dysfunction

Comparable to how the rate of seizures increases with age in adults with DS, the rate of individuals with DS at risk for thyroid disease also increases with age (Korsager, Chatham, & Ostergaard-Kristensen, 1978), although some samples have indicated no increase with age (Murdoch et al., 1977, Sˇare et al., 1978). Approximately 35–40% of adults with DS are reported to have abnormal thyroid function, although only 7–8% had active hypothyroidism (Dinani and Carpenter, 1990, Prasher, 1994a,

Diabetes

There are a few reports of an increased risk of Type 1 diabetes among individuals with DS and of increased risk of mortality due to Type 1 diabetes as compared to the general population (Anwar et al., 1998, Hill et al., 2003). The age of onset of Type 1 diabetes appears to be increasing in individuals with DS. Earlier studies of Type 1 diabetes from the 1960s focused on children (Burch and Milunsky, 1969, Farquhar, 1962, Milunsky and Neurath, 1968) and reported that the age of onset peaked at 8

Mortality

Health problems present in adults, reviewed earlier in this chapter such as sensory handicaps, thyroid disorders, and degenerative spine disease, may contribute to the earlier mortality observed in adults with DS (Kapell et al., 1998, Lantman-de Valk et al., 1996). However, their direct effect on mortality is not yet well documented. The life expectancy of adults with DS has a similar pattern until the age of 40 as compared to their age peers with other types of ID, and elevated mortality rates

Medical Conditions with Low Risk

While adults with DS are at risk for several medical conditions just described, they are also at low risk for other medical conditions. In a review of cancers among individuals with DS, malignant solid tumors were reported to be underrepresented (Satgé et al., 1998). In particular, common epithelial tumors were underrepresented in adults, as are breast, uterine, digestive, genital, skin, bronchial, ear/nose/throat, or urinary tract cancers (Hasle et al., 2000, Hill et al., 2003, Jancar and

Health Care

There are excellent guidelines for the health care of individuals with DS across the lifespan, including guidelines specific to adults (Cohen, 2002). They provide recommendations to health care professionals of what conditions to screen for and how frequently. However, little is known about the pattern of screening, health care use and access, or barriers to health care experienced by adults with DS specifically, although efforts are currently being made to explore these questions.

The

Conclusions

As individuals with DS continue to experience longer lives, the need to understand their aging and associated health conditions becomes more critical. The chronic disorders that onset in adults with DS, and the age-related change in other disorders, have important implications for health care management of this aging population. Health care providers need to be informed of the health conditions more common among adults with DS as they age, to be alert for declines earlier than expected in the

Acknowledgements

This manuscript was prepared with support from the National Institute on Child Health and Human Development (R03 HD59848).

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The population of adult patients with both Down syndrome and congenital heart disease is increasing due to better medical and surgical care. This cohort presents with multiple unique comorbidities, secondary to both progressions of health conditions associated with the aging of patients with Down syndrome, as well as due to pathophysiologic effects of uncorrected, corrected, or palliated congenital heart disease. These patients need frequent medical care and interventions requiring multiple anesthetics. This review focuses on the various factors relevant to the perioperative medical care of adult patients with both Down syndrome and congenital heart disease, founded on existing literature. Various anesthetic considerations for the different patterns of noncardiac and cardiac comorbidities are reviewed, and a systematic approach for the perioperative anesthetic management of these patients is presented.
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Citation Excerpt :
This accompanies an early-onset, disproportionately elevated occurrence of type 1 diabetes in people with DS (Aitken et al., 2013; Gillespie et al., 2006; Mortimer and Gillespie, 2020). Interestingly, type 2 diabetes in people with DS appears to be lower than in the general population (Esbensen, 2010; Jørgensen et al., 2019), despite the sometimes substantial sedentary, dysmetabolic, and lifestyle risk in aging (Agiovlasitis et al., 2020; Pape et al., 2021). One early feature of diabetes is insulin resistance (IR), which has been broadly studied in muscle and other tissues.
People with Down syndrome (DS) have increased risk of Alzheimer disease (AD), presumably conferred through genetic predispositions arising from trisomy 21. These predispositions necessarily include triplication of the amyloid precursor protein (APP), but also other Ch21 genes that confer risk directly or through interactions with genes on other chromosomes. We discuss evidence that multiple genes on chromosome 21 are associated with metabolic dysfunction in DS. The resulting dysregulated pathways involve the immune system, leading to chronic inflammation; the cerebrovascular system, leading to disruption of the blood brain barrier (BBB); and cellular energy metabolism, promoting increased oxidative stress. In combination, these disruptions may produce a precarious biological milieu that, in the presence of accumulating amyloid, drives the pathophysiological cascade of AD in people with DS. Critically, mechanistic drivers of this dysfunction may be targetable in future clinical trials of pharmaceutical and/or lifestyle interventions.
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Specific medical conditions are more prevalent in Down syndrome (DS) compared to the general population. Medical heterogeneity has also been hypothesized to contribute to variability in outcomes in DS.
This project aimed to examine the association between medical conditions (i.e., gastrointestinal issues, hearing loss, vision problems, and congenital heart defects) and cognition, language, and behavior in children and adolescents with DS.
Participants were 73 children and adolescents with DS, ages 6–17 years (M = 12.67, SD = 3.16). Caregivers reported on participants’ medical conditions, social behaviors, maladaptive behaviors, and executive function. Child cognitive abilities were also assessed.
Of the 73 participants, 34.2% had gastrointestinal issues, 12.3% had uncorrected hearing loss, 26.0% had uncorrected vision problems, and 31.5% had congenital heart defects. Participants with gastrointestinal issues had significantly more challenges with social behaviors, maladaptive behaviors, and executive function compared to those without gastrointestinal issues.
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Currently available screening instruments for evaluation of individuals with intellectual disabilities do not capture all the complications associated with Down Syndrome (DS). Here, we examined age and gender-specific variability revolving around major challenges related to ophthalmologic and auditory health, social integration, daily life, and behavioral problems in 468 (age: 2–84 years) individuals with DS living in all eight divisions of Bangladesh. More than half of the children presented with significant difficulty in walking or other targeted movements compared with 37.9% of adolescents (p = 0.03). Nearly 70% of children exhibited communication difficulties, particularly revolving around the understanding of speech, comprehending or learning tasks or new materials, and in expressing thoughts in words or behaviors (p = 0.003–0.006). Uncontrolled urination was frequent and predominantly found among children (p = 0.04). No significant differences were present in females vs. males except for concern about physical appearance (females: 58.5% vs. males: 47.5%; p = 0.02). The severity of DS was associated with intellectual performance, communication difficulties, and self-sufficiency (i.e., uncontrolled micturition or bowel movements) but not with psychotic, ophthalmologic, auditory, or motor skills-related problems. Increased awareness of DS phenotypic profiles among professionals and caregivers can foster earlier detection and counselling and help formulate appropriate interventions to reduce long-term sequelae and enhance cognitive and behavioral developmental outcomes.
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Chapter Four - Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

Abstract

Section snippets

Skin and Hair Changes

Menopause

Vision Impairments

Hearing Impairments

Seizure Disorder

Thyroid Dysfunction

Diabetes

Mortality

Medical Conditions with Low Risk

Health Care

Conclusions

Acknowledgements

Mechanics of Ageing and Development

The Lancet

Journal of Urology

Mutation Research

Lancet

Seizure

Annals of Thoracic Surgery

Applied Research in Mental Retardation

Maturitas

Brain & Development

Lancet

Mayo Clinic Proceedings

Life Sciences

Eye abnormalities in the mentally handicapped

Journal of Mental Deficiency Research

Type 1 diabetes mellitus and Down’s syndrome: Prevalence, management and diabetic complications

Diabetic Medicine

Aging and Down syndrome: Implications for physical therapy

Physical Therapy

Prevalence of overweight and obesity in Down syndrome and other mentally handicapped adults living in the community

Journal of Intellectual Disability Research

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

Developmental Medicine and Child Neurology

The influence of intellectual disability on life expectancy

Journal of Gerontology: Medical Sciences

Early onset of presbyacusis in Down syndrome

Scandinavian Audiology

Menopause in women with learning disabilities

Journal of Intellectual Disability Research

Alopecia areata and Down syndrome

Archives of Dermatology

Mortality in the mentally handicapped: A 50 year survey at the Stoke Park group of hospitals (1930–1980)

Journal of Mental Deficiency Research

People with mental retardation have an increased prevalence of osteoporosis: a population study

American Journal on Mental Retardation

Patterns in mortality over 60 years among persons with mental retardation in a residential facility

Mental Retardation

Health care guidelines for individuals with Down syndrome—1999 revision

Thyroid dysfunction in Down’s syndrome: A review

Down Syndrome Research and Practice

Data on mongolism in Victoria, Australia: Prevalence and life expectation

Journal of Mental Deficiency Research

Prevalence of cataract and pseudophakia/aphakia among adults in the United States

Archives of Ophthalmology

Age at onset of dementia and age of menopause in women with Down’s syndrome

Journal of Intellectual Disability Research

Arthritis in Down syndrome

Annals of Rheumatic Disease

Mortality and causes of death in persons with Down syndrome in California

Developmental Medicine and Child Neurology

Overexpression of copper-zinc superoxide dismutase in trisomy 21

Experientia

Down’s syndrome and thyroid disorder

Journal of Mental Deficiency Research

Skin age in Down’s syndrome: A note on the findings of Murdoch and Evans

Journal of Mental Deficiency Research

Management of pediatric cataract and lens opacities

Current Opinion in Pediatrics

Factors predicting mortality in midlife adults with and without Down syndrome living with family

Journal of Intellectual Disability Research

Hearing loss in middle-age persons with Down syndrome

American Journal on Mental Retardation

Mortality of elderly mentally retarded persons in California

Journal of Applied Gerontology

Life expectancy of persons with Down syndrome