Healthcare Issues in Aging Adults with Intellectual and Other Developmental Disabilities
Many adults with intellectual and other developmental disabilities (IDD) are achieving life expectancies commensurate with the general population. Although they are survivors, they often have complex physical and mental health needs that have not been previously identified or treated. Geriatrics healthcare professionals may have received little formal training in their care, and may experience difficulty in distinguishing normal from atypical aging trajectories in this population.1 The following is an overview of healthcare issues related to the aging adult with IDD.
Definition of Developmental Disabilities
Federal law defines a developmental disability as a severe chronic disability manifesting before age 22 due to physical and/or mental impairments, resulting in “substantial functional limitations in three or more of the following areas of major life activity: (1) self-care; (2) receptive and expressive language; (3) learning; (4) mobility; (5) self-direction; (6) capacity for independent living; and (7) economic sufficiency.”2
The most common type of developmental disability is intellectual disability, which has replaced the outdated pejorative term mental retardation.3 Other common developmental disabilities include autism, cerebral palsy (CP), certain chromosomal and genetic conditions (eg, Down syndrome, fragile X syndrome), and multiple congenital anomalies. Some individuals with seizure disorders, learning disorders, attention-deficit/hyperactivity disorder, and visual or hearing impairments also meet the definition for having a developmental disability. These conditions are commonly grouped together as “IDD” (intellectual and other developmental disabilities).
Epidemiology and Life Expectancies
Until the latter part of the 20th century, most individuals with IDD lived markedly shortened life expectancies in institutional residences. Now, aging adults with IDD are living to late life in the community. An estimated 641,000 adults with IDD age 60 years and older were residing in the United States in 2000, and it is expected that this group will increase threefold by 2020.4 As persons with IDD are living longer, geriatrics healthcare providers need to learn about the characteristics, healthcare needs, and common clinical issues facing this population.
Classification of IDD
Every decade, the American Association on Intellectual and Developmental Disabilities (AAIDD), formerly the American Association of Mental Retardation (AAMR), periodically re-examines and refines its definition of intellectual disability, with the most recent revision published in 2002.5 The comprehensive assessment of the individual with intellectual disability involves more than just intelligence quotient (IQ) testing, and includes measures of adaptive functioning, assessment of strengths, and linkage of limitations with corresponding supports in order to optimize function.6
As with all other clinical encounters, proper evaluation begins with an introduction of the clinician to the patient. Patients with IDD often are seen with caregivers who may provide most of the history, but the patient should remain the focus of the interaction. Even the most cognitively limited patient should be addressed by name and be included in the evaluation as much as possible.
The proper nomenclature for referring to a patient with a disability is with “person-first language” (ie, “a person with Down syndrome” rather than “Down syndrome patient”).7 This recognizes the patient as an individual while alerting the clinician to specific problems that may be prevalent in that group. Use of neutral-terms language (“wheelchair-user”) that emphasizes ability rather than limitations (“walks with crutches”), and avoidance of pejorative terms (“mongolism,” “moron,” etc), further helps the clinician establish rapport with a patient and family.
Examination of the “Uncooperative” Patient
Many patients with IDD will be difficult to examine in the traditional head-to-toe sequence, and the facets of the examination may need to be accomplished in stages. A patient may be fearful of healthcare workers and examination rooms, often because of prior painful or frightening experiences in the healthcare setting. Desensitization can be a powerful tool for working with such patients. A typical scenario might involve a patient who is afraid of being touched by strangers. An initial interview might be conducted without any attempt at examination, followed at the next visit by examination of neutral body parts, such as the hands. Successive visits might allow the examiner further access to the patient. As in a pediatric exam, any periods of silence should be utilized for auscultation. Diversionary tactics such as singing, games, magazines, or toys may be used.
A great deal of clinical information can be gained by careful observation alone. This includes important components of a neuropsychiatric exam, including level of alertness, quality of interaction, speech content and quality, patterns of movement, functions of most of the cranial nerves, and muscle bulk of exposed areas. Breathing patterns can also be observed. In general, more information can be gained from observing an uncooperative awake patient than examining a sedated patient.
The possibility of a sedated exam is often brought forth by families, staff, or the patients themselves. It may be helpful to prescribe a low dose of benzodiazepine or hypnotic to be given prior to the exam. If this is not sufficient, portions of the physical exam may be coupled with anesthesia for another reason, such as dental or endoscopy procedures. This may be used particularly for examinations of the oropharynx, tympanic membranes, genitals, and rectum. Phlebotomy, immunizations, and toenail care can also be accomplished at this time. Unless there is particular reason to suspect a disorder in one of these areas, the risk of the anesthesia may outweigh the risk of morbidity from an undiagnosed disease. For example, a woman who is not known to have been sexually active and who is without genitourinary symptoms probably has less risk of dying from cervical cancer than the risk of complications from anesthesia.
Syndrome Identification and Syndrome-Specific Healthcare
Advances in the fields of clinical genetics and dysmorphology, endocrinology and metabolism, neurology, and molecular biology have fostered the identification of specific syndromes associated with IDD. Many syndromes involve characteristic physical and behavioral features (physical and behavioral phenotypes), common comorbid conditions, and unique health risk profiles. For some syndromes, sufficient information has been accrued to generate syndrome-specific healthcare guidelines. Some syndromes (eg, Down syndrome) carry unique aging trajectories and specific age-associated health risks.8
IDD literature includes the term secondary conditions, defined as “any preventable condition to which a person or family is more susceptible by virtue of experiencing a primary diagnosis associated with disability.”9 Core concepts related to secondary conditions include: (1) the primary disabling condition is necessary, but not sufficient, to develop the secondary condition; (2) the secondary condition reflects a gap between a person’s capability and environmental demands; and (3) factors such as age, developmental stage, and individual traits including motivation and behavioral style determine the expression of the secondary condition.10 For example, common secondary conditions in persons with spina bifida include pressure ulcers, obesity, and restricted mobility in the community.
While geriatrics healthcare providers are experts at identifying and ameliorating the complications of age-associated primary disabilities such as stroke, many have had limited clinical experience with individuals with IDD. Not surprisingly, they encounter difficulty in distinguishing normal developmental and individual variation from abnormal or atypical clinical courses. Additionally, there is little empirical research regarding strategies to prevent secondary conditions in this population.11
Common Geriatric Consultations
Common concerns leading to geriatric consultation include: (1) anticipatory guidance regarding aging; (2) evaluation of functional decline in adaptive behavior; (3) medical evaluation of problematic behaviors and mental health issues; and (4) diagnosis and management of dementia. Often, these consultations occur in the setting of outpatient geriatric assessment clinics.
Published literature regarding outcomes of comprehensive geriatric assessment in this population has been scant. Carlsen et al12 conducted comprehensive geriatric assessment of 41 community-residing elderly persons with IDD, yielding a statistically significant increase in the number of medical and dental diagnoses. Similarly, a study of younger adults with IDD who underwent systematic medical examination documented an average of 5.4 medical disorders per person, half of which were previously undetected.13 Geriatrics consultants should assume that elderly persons with IDD bear a high likelihood of undiagnosed physical and psychiatric disorders.14,15
Dementia. Questions regarding the diagnosis or management of dementia are a common impetus for geriatric consultation. Dementia is both over- and underdiagnosed in this population because of the wide baseline variability in neurocognitive capacity and adaptive functioning, and because of limitations in communicating physical or psychic distress.
Individuals with Down syndrome in particular may be labeled prematurely with the diagnosis of dementia, when their decline in function is due to other medical, psychiatric, or social-environmental causes. While the neuropathology associated with dementia of the Alzheimer’s type is uniformly present in all adults with Down syndrome by the age of 40, not all persons manifest dementia clinically. The risk of “diagnostic overshadowing,” inappropriately attributing an individual’s problems to his or her underlying developmental disability, is great.
The International Association for the Scientific Study of Intellectual Disabilities (IASSID) along with AAIDD (at that time, AAMR), published a clinical practice guideline for clinical assessment and care of Alzheimer’s disease and other dementias in individuals with IDD.16 Unfortunately, agreement between instruments used to make the diagnosis appears poor.17 For persons with Down syndrome, specific diagnostic batteries are in development.18 The Multidimensional Observation Scale for Elderly Subjects (MOSES) holds some promise as a clinical tool to monitor behavioral changes in elderly persons with IDD.19
Cerebral Palsy. The term cerebral palsy, or static encephalopathy, refers to a group of nonprogressive disorders of the motor system. They are caused by injuries to the brain during development, which may occur prenatally, intrapartum, or during early childhood. The injuries may be caused by prenatal infections, placental problems, meningitis, birth anoxia, or trauma. In the majority of cases, the etiology is unknown. Many, but not all, patients with CP have intellectual disabilities as well. They may have dysarthria that interferes with communication even in the presence of normal intelligence. Clinicians should not assume that patients with CP have intellectual disabilities. As with other childhood neurodevelopmental disorders, life expectancy in CP continues to increase. Depending on disease severity and comorbid conditions, most patients with CP will survive to adulthood.20
The most common finding in CP is spasticity, although patients may also have hypotonia or athetoid movements. The range of motor disability is wide; some patients may only have problems while stressed, as in running, others may walk with braces or walkers, and others use wheelchairs themselves or are transported. As a general rule, those patients with worse motor outcomes have more comorbid conditions and lower life expectancies.
While the injury to the brain is not progressive, the peripheral manifestations at the muscles and joints may worsen in the absence of proper stretching, bracing, and wheelchair seating.21 Physical therapy is integral to maintaining function and to protect against joint contracture. Pharmacologic therapy for spasticity may continue into late adulthood in the form of baclofen, dantrolene, tizanidine, and intramuscular injection of botulinum toxin type A. Baclofen may be given orally or by intrathecal infusion. Often, referral to a physiatrist may be beneficial in maintaining function.
Common comorbid conditions in CP include seizures, behavioral problems, frequent respiratory infections, drooling, gastroesophageal reflux disease, constipation, scoliosis, osteoporosis, subluxation of the hips, and skin breakdown. These can lead to secondary disabilities from pain, injury, medical illness, and loss of ambulation.
Chronic pain may be common in patients with CP, and it may be difficult to diagnose and treat because of communication difficulties. Any discomfort can increase a patient’s spasticity, and this may be the most prominent outward sign of a painful stimulus. Important causes of discomfort in patients with CP include dental abnormalities, ingrown nails, musculoskeletal problems, pathologic fractures, and pressure ulcers.
A lifetime of abnormal forces on the skeleton can leave the older patient with CP at higher risk for osteoporosis, cervical and lumbar disc disease, facet joint disease, and peripheral neuropathy.
Epilepsy. Seizures may be difficult to recognize in patients with IDD. In addition to generalized tonic-clonic movements, seizures may manifest as drop attacks, laughing spells, subtle tonic deviations of the eyes, or behavioral changes. Management of epilepsy in the older adult, particularly one with IDD, is challenging.22 Recent years have seen a vast expansion of the number of antiepileptic drugs (AEDs), with which practitioners must become familiar. Many of the AEDs have multiple side effects and drug interactions, a review of which is beyond the scope of this article. Older patients may be more prone to side effects due to changes in oral absorption, polypharmacy, and changes in renal and hepatic metabolism.
Some of the more common and important side effects of the newer AEDs include: hyponatremia due to inappropriate secretion of antidiuretic hormone with oxcarbazepine or carbamazepine, nephrolithiasis with topiramate, aplastic anemia with felbamate, and behavioral changes with levetiracetam. Macrolide antibiotics can interfere with the metabolism of carbamazepine and lead to toxicity.
Commonly used medications that may lower the seizure threshold and should be used cautiously in patients with epilepsy include bupropion, tramadol, meperidine, propoxyphene, quinolone antibiotics, and several antipsychotics.
All seizure medicines should be used cautiously in the anticoagulated patient, as many AEDs interact with warfarin. However, seizures should be adequately treated because of the risk of fall and hemorrhagic complications in the event of an injury.
Long-term use of seizure medicines can cause many side effects relevant for older patients, particularly osteomalacia (phenobarbital, phenytoin), gingival hyperplasia (phenytoin), and cerebellar atrophy (phenytoin).
With aging, tolerance of neurocognitive effects of AEDs may decrease. Clinicians should reassess the AED regimen periodically, even if the epilepsy itself is well controlled.
As in all other areas of medicine, use of complementary and alternative medicine (CAM) is common in patients with seizures. One study found that 44% of patients with epilepsy had tried some form of CAM in the past.23 CAM treatments are not necessarily benign, as they may replace effective treatments of seizures, have side effects, or interact with other medications.
Down syndrome. Individuals with Down syndrome have now achieved a mean life expectancy of 60 years.24 Prospective studies of aging adults with Down syndrome suggest that only a subset actually develop clinically recognizable dementia prior to death. Factors associated with development of dementia include apolipoprotein E allele status, estrogen deficiency, and high levels of beta-amyloid 1-42 peptides.25 Clinical evaluation of functional decline should include screening for adverse drug effects, visual and hearing impairments, depression, complicated grief, vitamin B12 and folate deficiency, hypothyroidism, and obstructive sleep apnea. The emergence of seizures along with other features of neurocognitive decline is highly suggestive of dementia.
Preventive healthcare guidelines for Down syndrome are periodically reviewed and updated by several national and international professional organizations, including the Down Syndrome Medical Interest Group and the Down Syndrome Research Foundation. Medical conditions commonly undetected without periodic screening include hypothyroidism, celiac sprue, glaucoma, keratoconus, cataracts, sensorineural hearing loss, osteoporosis, vitamin D deficiency, vitamin B12 deficiency, cervical myelopathy, and depression.26
In the United States, more than three-quarters of all adults with IDD live at home with family members.27 As parents of aging adults with IDD reach extreme old age, the previous roles of caregiver and care-recipient often become blurred. Parents who learned to mistrust professional advice about prognosis (“Your child will have the IQ of a potato”), life expectancy (“Your child will never see her 18th birthday”), and care decisions (“You need to put your child in an institution and forget about him”) are frequently hesitant to trust professionals with future planning. In the absence of succession plans, when parent caregivers die or become disabled, adults with IDD are faced with sudden, traumatic changes in relationships, residence, and routines. Often, their aged siblings, with little advance notice or preparation, suddenly become their primary caregivers.28 Heller and Caldwell29 have demonstrated that with sufficient peer support, families can be engaged to undertake the difficult process of future planning.
In these complex contexts, geriatrics healthcare providers are frequently consulted to evaluate mental and physical health status, to assess sudden declines in adaptive functioning, and to advise about present and future healthcare needs and supports. Such consultations may be the first formal healthcare the older person with IDD has received in decades. In addition to addressing immediate concerns, the geriatrics healthcare provider will often need to arrange for “catch-up” immunizations and other preventive healthcare screenings, along with evaluations tailored to syndrome-specific health risks.
Consent and Advance Directives
Historically, individuals with IDD were provided few opportunities to exercise choice and self-determination. Even now, healthcare professionals may unwittingly disenfranchise aging adults with IDD from participation in healthcare decision-making by assuming that they cannot understand or do not have opinions or core values. Ansello and Janicki30 have advanced the concept of assisted autonomy, whereby individuals with IDD negotiate with and utilize the assistance of others to make choices. A Guide to Consent,31 with an accompanying manual for self-advocates, is published and periodically updated by the AAIDD. It outlines critical information regarding informed consent for healthcare, sexual activity, and residential options.
Mental Health Disorders
Mental health disorders occur more commonly in individuals with IDD than in the general population and are more commonly underrecognized.32 Standard psychiatric taxonomies such as the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR) are often inadequate for diagnosis, particularly in individuals with more severe cognitive and communicative impairments. This has led to the development of a new diagnostic system specific to persons with IDD: the Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Intellectual Disabilities (DC-LD).33
Behavioral expression of depression can include self-injury (head-banging, pica, picking, and scratching), screaming, and temper tantrums.34 While alcohol abuse appears to be less common in persons with IDD, the ratio of alcohol misusers to users is much greater in this population.35 Mental health conditions thought to be more common in individuals with IDD include: anxiety disorders, particularly post-traumatic stress disorder; depression, particularly rapid cycling mood disorders; and complicated grief. Physicians tend to overdiagnose schizophrenia and other psychoses by mistaking developmentally-determined behavioral phenomena such as self-talk and soliloquizing as features of bona fide psychosis.36 Evaluation of behavioral problems may require consultation with a professional who can perform functional behavioral analyses.
Educating Healthcare Professionals
Professional organizations such as IASSID, Developmental Disabilities Nurses Association, Family Medicine Education Consortium, Inc., and American Academy of Developmental Medicine and Dentistry have emerged to meet the professional educational needs for healthcare providers. A general curriculum for healthcare providers has been published.37 A few geriatrics fellowships provide training experience, as well as clinical care, through specialized developmental disabilities clinics.
The life expectancy of individuals with IDD continues to increase, and specialized knowledge about their particular healthcare needs is slowly accruing. Geriatrics healthcare professionals will need to learn how to care for this growing segment of older persons.
The authors report no relevant financial relationships.
Source of support: NIH/NCI R25T CA 111898
The authors thank Kathryn Gaughan, BA, for her assistance in the preparation of this manuscript.
Dr. Tyler is from the Department of Family Medicine, Fairview Hospital/Cleveland Clinic Family Medicine Residency Program, and the Department of Family Medicine, Case Western Reserve University, Cleveland, OH; and Dr. Noritz is from the Departments of Pediatrics and Internal Medicine, MetroHealth Medical Center, and the Departments of Pediatrics and Internal Medicine, Case Western Reserve University.