The National Task Group on Intellectual

DIAGNOSIS AND TREATMENT GUIDELINES Consensus Recommendations

The National Task Group on Intellectual Disabilities and Dementia Practices Consensus Recommendations for the Evaluation and Management of Dementia in Adults With Intellectual Disabilities

Julie A. Moran, DO; Michael S. Raﬁi, MD, PhD; Seth M. Keller, MD; Baldev K. Singh, MD; and Matthew P. Janicki, PhD

Abstract

Adults with intellectual and developmental disabilities (I/DD) are increasingly presenting to their health care professionals with concerns related to growing older. One particularly challenging clinical question is related to the evaluation of suspected cognitive decline or dementia in older adults with I/DD, a question that most physicians feel ill-prepared to answer. The National Task Group on In- tellectual Disabilities and Dementia Practices was convened to help formally address this topic, which remains largely underrepresented in the medical literature. The task group, comprising specialists who work extensively with adults with I/DD, has promulgated the following Consensus Recom- mendations for the Evaluation and Management of Dementia in Adults With Intellectual Disabilities as a framework for the practicing physician who seeks to approach this clinical question practically, thoughtfully, and comprehensively. ª 2013 Mayo Foundation for Medical Education and Research n Mayo Clin Proc. 2013;88(8):831-840

he National Task Group on Intellectual address the requirements of the National Disabilities and Dementia Practices Alzheimer’s Project Act. (NTG) was formed as a response to the Among the NTG’s charges were (1) the crea- From the Division of T Gerontology, Beth Israel National Alzheimer’s Project Act, legislation tion of an early detection screen to help document Deaconess Medical Cen- signed into law by President Barack Obama. suspicions of dementia-related decline in adults ter, Harvard Medical One objective of the NTG is to highlight with intellectual disabilities, (2) the development School, Boston, MA the additional needs of individuals with of practice guidelines for health care and supports (J.A.M.); Department of Neurosciences, University intellectual and developmental disabilities related to dementia in adults with intellectual of California, San Diego (I/DD) who are affected or will be affected by disabilities, and (3) the identification of models School of Medicine, La Alzheimer’s disease and related disorders. of community-based support and long-term Jolla (M.S.R.); American Academy of Develop- The American Academy of Developmental care of persons with intellectual disabilities af- mental Medicine and Medicine and Dentistry, the Rehabilitation Re- fected by dementia. In 2012, the NTG issued Dentistry, Prospect, KY search and Training Center on Aging With “‘My Thinker’s Not Working’: A National Strategy (S.M.K.); Westchester Institute for Human Developmental DisabilitieseLifespan Health for Enabling Adults With Intellectual Disabilities Development, New York and Function at the University of Illinois at Affected by Dementia to Remain in Their Com- Medical College, Valhalla, Chicago, and the American Association on In- munity and Receive Quality Supports.”2 NY (B.K.S.); and Depart- ment of Disability and tellectual and Developmental Disabilities A subgroup of the NTG was formed to focus Human Development, combined their efforts to form the NTG to specifically on health practices. The guidelines University of Illinois at ensure that the concerns and needs of people and recommendations outlined in this docu- Chicago, Chicago (M.P.J.). Dr Moran is currently with intellectual disabilities and their families, ment represent the consensus reached among affiliated with Tewksbury when affected by dementia, are and continue said specialists at 2 plenary meetings and Hospital, Tewksbury, MA, to be considered as part of the National Plan ongoing discussions that followed, informed and remains a Clinical 1 Instructor of Medicine at to Address Alzheimer’s Disease issued to by a review of the current literature and drawn Harvard Medical School.

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from each specialist’s clinical practice; thus, accepted that at least 50% of adults aged 60 years they meet level 2 (case-controlled studies) and and older will have clinical evidence of de- level 3 (observational studies) for evidence mentia.10-12 Thus, the development of clinical in clinical application. These guidelines are a Alzheimer’s disease is not inevitable in aging suggested starting point as we develop more adults with Down syndrome, although risk in- formal methods to determine best practices of creases incrementally with age. evaluation of dementia in this population. In these practice guidelines, we take an encompassing approach and generalize recom- BACKGROUND mendations for the broad population with Adults with I/DD are now regularly living into I/DD, recognizing that distinct genetic and old age, with many surviving into their 70s, neurologic factors associated with specific con- 80s, and beyond. Dementia is among the most ditions may compromise these generalizations. clinically challenging co-occurring conditions of aging in a select group in this population SPECIFIC CHALLENGES IN THE AGING (ie, adults with Down syndrome and those POPULATION WITH I/DD with brain injury) considering that the approach One of the hallmark features of all causes of de- to evaluation, diagnosis, treatment, and man- mentia is a decline from the baseline level of func- agement of dementia in adults with I/DD re- tion and performance of daily skills. Although mains largely undefined in the literature. this is usually relatively straightforward to estab- It is well established that adults with I/DD lish in the general population, it can be a much experience poorer health outcomes compared more complicated task in adults with intellectual with the general population, a trend seen in mor- disabilities because of variance in cognitive func- tality, morbidity, and quality of life.3,4 The cause tioning. This is particularly true for the current of this disparity is complex and multifactorial, generation of older adults with I/DD owing to a but poor training and preparedness of health variety of factors, including poor record keeping care professionals nationwide ranks among the from childhood, lack of ongoing involvement of key contributing factors. Formal didactic family and involvement of multiple staff mem- training regarding adults with I/DD throughout bers (often due to a high degree of turnover), the life span is not routinely incorporated into and inconsistencies in the physician-patient US medical school or residency training.5 relationship that obviate knowing the person Recognizing these existing disparities in throughout his or her life span.13 medical training and health care services for In the absence of a personal historian who adults with I/DD, the NTG organized a tar- can accurately and comprehensively attest to geted effort to help address this gap. The an individual’s baseline level of functioning, goal of this article is to clarify key principles the assessment of a reported or observed change of evaluation and management of dementia may be exponentially more complicated. The in adults with I/DD (20 years old) on the ba- early signs of dementia in adults with I/DD sis of evidence-based research and consensus can be subtle and often require an astute among experts in the NTG. observer to identify these changes proactively. Often individuals with I/DD are served by PREVALENCE OF DEMENTIA IN PATIENTS numerous caregivers throughout their lifetime, WITH INTELLECTUAL DISABILITY and often newly involved caregivers will pre- In Down syndrome, one of the most common sume that their current level of ability represents forms of intellectual disability, the underlying their baseline level of functioning and, thus, genetic link between trisomy 21 and Alzhei- miss signs of early decline.14 mer’s disease has been convincingly established.6,7 By age 40 years, all adults with Down DOWN SYNDROME AND OTHER FORMS OF syndrome exhibit some degree of neuropatho- INTELLECTUAL DISABILITY logic defects postmortem that meet the criteria Down syndrome is the only genetically inherited for Alzheimer’sdisease.8,9 Despite these neuro- form of intellectual disability that has been pathologic changes, the development of clinical indisputably linked to the risk of early devel- Alzheimer’s disease is variable. Although specific opment of Alzheimer’s disease. The leading ex- prevalence estimates may vary, it is generally planation for this link is tied to the triplication

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of chromosome 21 (trisomy 21) and the overex- Step 1: Gather a Pertinent Medical and pression of the gene coded on this chromosome Psychiatric History. A thorough history for amyloid precursor protein. The excessive should include, of course, a review of the med- production of b-amyloid as a result is key to ical and psychiatric history, with particular the pathogenesis of Alzheimer’s disease. In addi- attention to issues of the patient’s personal tion, other genes coded on chromosome 21 are health that could potentially influence the likeli- also theorized to potentially contribute to the hood of development of a premature dementia. early emergence of dementia and the phenome- These issues include a history of cardiovascular non of accelerated aging seen in adults with disease; a history of cerebrovascular disease or Down syndrome.15,16 Down syndrome has the stroke; known underlying neurologic structural most robust body of literature regarding the abnormalities; a history of head injury, con- correlation to dementia in persons with I/DD cussion, or loss of consciousness; and poorly in older age, although many unanswered and treated sleep disorders or thyroid disease, underexplored questions still remain. Compara- vitamin B12 deficiency, or metabolic syndrome tively, for nearly all other forms of I/DD, there is (obesity, diabetes, hypertension). a widespread scarcity of life span research.17 Step 2: Obtain a Historical Description of ASSESSMENT GUIDELINES Baseline Functioning. As discussed earlier, a The NTG recommends the following proce- dementia diagnosis requires evidence of change dural steps for the accurate assessment of from a previous level of functioning, and this base- health and function regarding the identification line is quite individualized in people with I/DD. and validation of symptoms of Alzheimer’s This description is highly dependent on the histo- dementia and related disorders. The steps in- rian, and, thus, a family member or caregiver who clude evaluation, diagnosis, treatment, and knows the individual well should be present for follow-up. As noted in the National Plan to this interview. Supplemental Table 1 (available Address Alzheimer’s Disease, physicians and online at http://www.mayoclinicproceedings.org) other health care professionals need informa- outlines the key factors to review when con- tion on how to implement the “detection of structing a historical baseline for an individual any cognitive impairment” requirement in the undergoing assessment for dementia. Medicare Annual Wellness Visit included in the Affordable Care Act.18,19 The following Step 3: Obtain a Description of Current guidelines also address this process and offer Functioning and Compare With Base- suggestions on how to meet this requirement. line. Information gathering regarding current functioning is obtained in a similar manner as Evaluation was done for the historical baseline, allowing The history is the cornerstone of a dementia diag- a side-by-side comparison of the scope and nosis. It is important that a thorough and compre- degree of change over time. This practice helps hensive history be obtained to compile evidence systematically assess for the key criteria of de- consistent with an emerging dementia while mentia, specifically, “dementia is diagnosed probing for other features or patterns that might when there are cognitive or behavioral symp- suggest other contributing factors. Pertinent his- toms that 1) interfere with the ability to func- torical information is particularly useful from per- tion at work or at usual activities; and 2) sonal accounts of caregivers and family members represent a decline from previous levels of who have known the individual for several years. functioning and performing.”21 Key features to In addition, other sources of information, such as look for include reported memory loss or previous neuropsychological testing or school impairment, marked changes in personality, Individualized Education Program information, disorientation, and decreasing performance in can greatly assist in accurately characterizing an expected tasks/skills. individual’s baseline. One model for obtaining such a history is detailed in a separate NTG pub- Step 4: Perform a Focused Review of Sys- lication regarding community supports.20 To tems. A focused review should take an inven- perform the evaluation process, we recommend tory of common issues that are seen with the following 9-step approach. increasing age and also with possible emerging

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TABLE 1. Common Medication Classes Associated With Possible Worsening of Cognitive Function in Patients With Dementia Medication class Examples Comments Antihistamines, especially ﬁrst Diphenhydramine Anticholinergic adverse effects, urine retention, confusion, sedation generation Hydroxyzine Promethazine Bladder agents Oxybutynin Anticholinergic adverse effects, urine retention, confusion, sedation Tolterodine Certain pain medications Meperidine Meperidine: increased risk of seizures with renal impairment Propoxyphene Tricyclic antidepressants Amitriptyline Risks and beneﬁts of this medication class should be guided by a psychiatrist Clomipramine with familiarity with patients with I/DD Doxepin Certain antipsychotics Chlorpromazine Sedation, mental sluggishness. Atypical antipsychotics have been associated Clozapine with increased mortality when used to treat behavioral problems in elderly Pimozide patients with dementia, but no such studies have been conducted in Down syndrome or I/DD in general Long-acting benzodiazepines Clonazepam Very sedating; caution for gait impairment, dizziness Temazepam If a benzodiazepine is required for anxiety, consider short-acting agents Diazepam (appropriately dosed): alprazolam, lorazepam

I/DD ¼ intellectual and developmental disabilities.

dementias. Supplemental Table 2 (available cerebrovascular disease, stroke, diabetes, heart online at http://www.mayoclinicproceedings. disease, and rheumatoid arthritis or systemic org) summarizes the system areas that should lupus erythematosus in first-degree relatives. be highlighted in an assessment of an adult with I/DD. Step 7: Assess for Other Psychosocial Issues or Changes. Aging adults with I/DD often Step 5: Review the Medication List Thor- confront a variety of potentially destabilizing oughly. Medications require specific focus, as life events merely by virtue of growing older. the risk associated with polypharmacy and the These events may include leaving the family involvement of multiple prescribing physi- home; witnessing the declining health or death cians increases with advancing age. Special of a parent, loved one, or friends/housemates; attention should be given to all newly added decline in one’s own health, functionality, medications, particularly those that are psy- or employment status; or frequent turnover/ choactive, antiepileptic, or anticholinergic, departure of caregivers. The cumulative impact and those with sedating properties. Common of these events in an adult with I/DD who may adverse effects and drug-drug interactions have limited coping skills or emotional matu- should be reviewed, with attention given to rity cannot be overstated. A careful assessment nonspecific signs and symptoms that might for these factors could identify certain triggering suggest a drug adverse effect, such as som- events and frequently also help in the identifi- nolence, gait instability, or urinary retention. cation of other coexisting mood disorders, Table 1 lists commonly used medications with such as untreated anxiety or depressed mood, potential deleterious effects on cognition in which could be strongly influencing an individ- this population. ual’s cognitive and functional performance. Psychiatric illness may present atypically Step 6: Obtain a Pertinent Family History. A in adults with I/DD, and there is a common family history is important primarily for pitfall of diagnostic overshadowing, in which detecting a history of dementia in first-degree features truly related to an underlying mental relatives, particularly if the disease presented illness are instead attributed to the individual’s prematurely (generally <50 years old, except intellectual disability. The method of history in adults with Down syndrome), suggesting taking described previously herein helps ac- a stronger possible familial predisposition. count for changes in baseline mood, behavior, Additional factors of note include a history of or personality, which should raise red flags for

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a possible emerging psychiatric/mental health Mini-Mental State Examination and the Mon- disorder. Pay close attention to the review of treal Cognitive Assessment; see also the study systems to highlight other potential neurovege- by Cordell et al24 for a recent compendium of tative signs of appetite changes, weight loss, assessment tools appropriate for the Annual and change in sleep patterns. Wellness Visit under the Affordable Care Act) In patients with Down syndrome and have not been normed for adults with intellec- dementia, depression and other prefrontal lobe tual disabilities, and, thus, results cannot be symptoms may be more common, including interpreted meaningfully in adults with I/DD. signs and symptoms of indifference, uncoopera- The NTG has made the following recommen- tiveness, apathy, and socially deficient commu- dations for a general framework of cognitive nication or impaired adaptive functioning in assessment. general.22 For a review of features of mental dis- Inclusion of at least 1 standardized tool for orders that may present atypically in adults with cognitive assessment is recommended because I/DD, the Diagnostic ManualeIntellectual Disability it generates a score that can be tracked over is a particularly helpful desk reference.23 time and provides an additional rigid data point that can be repeated on subsequent encounters. Step 8: Review Social History, Living Envi- Many instruments have been developed and ronment, and Level of Support. Assessment validated for the diagnosis of dementia in this of current living conditions and level of sup- population, including the Dementia Scale for port is increasingly critical when an emerging Down’s Syndrome,25 the Dementia Question- dementia is suspected, as evaluation of safety naire for People With Learning Disabilities,26,27 concerns and appropriateness of one’s current the Cambridge Examination for Mental Dis- placement is a priority. Even if current sup- orders of Older People With Down’s Syn- ports seem adequate, it is important to think drome,28 the Down’s Syndrome Mental State proactively in the setting of a suspected demen- Examination,29 and the Test for Severe Impair- tia, knowing that there will be ever-changing ment.30 Regardless of the clinician’s choice of and increasing needs. instrument, the focus should be on recognizing change and decline in relation to a premorbid Step 9: Synthesize the Information. Because baseline. the history and all the supporting data are ob- In addition, the initial interview and exam- tained in a stepwise manner, the interviewer is ination can be adapted to assess performance advised to continually mentally cross-reference in a variety of cognitive domains. This could the information with the criteria for a de- beperformedintheoffice or at the bedside if mentia diagnosis, building evidence for or questions are flexible enough to be appro- against the diagnosis. By the end of the history priate for the individual’s baseline intellectual taking, a fairly strong level of suspicion should ability. To further enhance the information already be built. provided by the test batteries suggested previously herein, physicians are encouraged Physical Examination to include additional questioning to assess The physical examination should be com- the individual’s general orientation, reading/ prehensive, with specific attention to physical writing/math skills (if applicable), naming findings that may suggest underlying medical abilities (body parts, common objects), basic issues that may be contributory. Supplemental motor skills, general knowledge (counting, Table 3 (available online at http://www.mayo days of the week), language comprehension, clinicproceedings.org) summarizes the key and recall of newly learned information. All components of focus during an office examina- these components can be fairly easily added tion for suspected dementia. to a physician’s questioning repertoire and can help point to changes if abilities decay Cognitive Assessment over subsequent visits. Currently, there is no generally accepted crite- rion standard for memory screening or assess- Diagnosis ment in adults with I/DD. Assessment tools There exists great heterogeneity in adults with used in the general population (eg, the Folstein I/DD, and, thus, there is no basis for comparison

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TABLE 2. Common Contributors to Memory Changes in Adults With I/DD Condition Presentation Sensory deﬁcits Hearing loss Vision loss, low vision, depth perception changes Metabolic disturbances Electrolyte abnormalities Hypoglycemia/hyperglycemia

B12 or folate deficiencies Undetected thyroid dysfunction Anemia Toxic levels of antiepileptic or psychoactive medications Toxic adverse effects of certain medications (eg, hyperammonemia in chronic valproic acid use) Coexisting mood disorder Either newly detected or subacute worsening of baseline mood disorder Note: Depression can cause symptoms that seem similar to dementia and can co-occur with early dementia Pharmacologic concerns Polypharmacy, drug-drug interactions, and altered pharmacokinetic properties Sleep problems Sleep apnea and other undetected sleep disorders Seizures Undetected or worsening seizure disorders Pain Undiagnosed pain or undertreated pain Mobility problems Mobility disorders and loss of functionality Psychosocial or environmental Changes in routines, death or impairment of family members or close acquaintances, new regimen stressors at home or in the workplace, reactions to threatening situations Others Conditions that may be associated with cognitive deficit (chronic subdural hematoma, brain tumors, multiple sclerosis, human immunodeficiency virus, and cryptococcal infection) Additional considerations: prevalent Vision impairment due to early development of cataracts and increased risk of keratoconus conditions in adults with Down Hearing loss due to conductive hearing deficits syndrome Thyroid dysfunction, particularly hypothyroidism Obstructive sleep apnea Celiac disease Atlantoaxial instability and other cervical spine disorders, including osteoarthritis and spinal stenosis Osteoarthritis and associated pain and mobility limitations

I/DD ¼ intellectual and developmental disabilities.

against any other set of peer-based percentiles, The workup after an office cognitive assess- standards, or generalized sets of expectations ment should be customized to the specific when assessing an individual for dementia. signs and concerns of each individual patient. Assessment of decline should always be individ- Further assessment of 1 or more of the previ- ualized and patient specific, with judgments ously noted components may comprise the made on the basis of deterioration from the pa- “homework” that a patient’s caregiver or referral tient’s own individual baseline level of intellec- agency may be instructed to complete after the tual disability, function, and achievement (ie, first assessment. Laboratory testing is justifiable their personal best). in nearly every patient seeking cognitive assess- A dementia diagnosis should never be ment because blood work has a potentially high arrived on prematurely, without a proper inves- yield for uncovering or ruling out multiple com- tigation into other contributing factors that are mon conditions that might influence cognition. potentially correctable. There are several co- A complete metabolic panel, thyroid function occurring issues that frequently masquerade as tests, B12 measurement, folate measurement, dementia or negatively compound the effects liver function tests, and a complete blood of early dementia. Table 2 summarizes these cell count should routinely be performed. common conditions, which should be assessed Use of neuroimaging is recommended on a during a general evaluation in an effort to iden- case-by-case basis, and features that should tify contributors and, more importantly, to look prompt consideration of brain imaging include for elements that can be treated or improved. focal findings on neurologic examination,

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TABLE 3. Cholinesterase Inhibitor Use in Adults With Down Syndrome With and Without Dementia Reference, year No. of patients Study type Results Kishnani et al,36 1999 4 Case reports Improvement Prasher et al,37 2013 23 Case control Nonsignficant improvement Heller et al,38 2003 6 Case reports Improvement in language Johnson et al,39 2003 19 Randomized controlled trial Improvement in language Prasher et al,40 2002 27 Randomized controlled trial Nonsignificant improvement Lott et al,41 2002 15 Case control Significant improvement

underlying known structural abnormalities function, but the benefits must be carefully without recent imaging, suspicion of or risk fac- weighed against potential adverse effects, and tors for cerebrovascular disease, rapid and one may consider partnering with a psychi- sudden neurologic/cognitive deterioration, a atrist for further expert guidance in this history of recent fall with head injury, or a his- situation. tory of repeated head trauma. Particularly in pa- Data specifically focused on pharmaco- tients in whom the history is fragmented, logic treatment interventions for adults with treatable causes of functional decline, such I/DD (and Down syndrome specifically) are demyelinating disease, infection, and intracra- limited, with many studies flawed by small nial mass, may be missed if imaging is not sample sizes, nonblinded study design, considered. Thus, proceeding with magnetic and variable inclusion criteria for dementia. resonance imaging or noncontrast computed The current Food and Drug Administratione tomography is recommended, particularly if approved medications for Alzheimer’s disease select brain features may lead to a differential either raise the levels of acetylcholine (donepe- diagnosis of the type of dementia. zil, rivastigmine, and galantamine) or block the Recommendations for additional testing or activity of the neurotransmitter glutamate in procedures are patient specific, on the basis of the brain (memantine). In 2009, the Cochrane the components listed previously herein re- Collaboration31-34 conducted reviews of done- garding suspicion for other contributing factors. pezil, rivastigmine, galantamine, and meman- These procedures may commonly include, but tine and their use in treating adults with are not limited to, ophthalmology testing, ceru- Down syndrome and found that there is a men disimpaction, audiology testing, referral for dearth of rigorous data in this field, as only 1 sleep studies, consideration of an antidepressant study was identified that met the criteria for re- drug trial (if symptoms are present), referral to view. Furthermore, a 2011 study that focused a psychiatrist, therapist, or behaviorist, elec- on memantine therapy in adults with Down troencephalography, echocardiography (if an syndrome provided discouraging results, with arrhythmia or dysautonomia is suspected), no significant improvement noted in the treat- or additional recommendations to minimize ment group vs the placebo group at 1-year polypharmacy. follow-up.35 Table 3 summarizes some of the limited studies of the effect of cholinesterase Treatment inhibitors on Down syndrome. Treatment of dementia involves a pharmaco- There is little evidence in the current liter- logic and a nonpharmacologic approach. The ature about the efficacy, safety, and tolerability pharmacologic treatment of dementia may of pharmacologic interventions for dementia include medications that are meant to slow in adults with I/DD. Current practice is largely the progression of cognitive decline, as methods variable and is typically extrapolated from of neuroprotection and curative treatment are standard treatment principles applied to the not yet available. Medications may also be general population with dementia. The ques- used to help with challenging behaviors in tion of efficacy and response to cholinesterase adults with I/DD and dementia. Treating affec- inhibitor and memantine treatment in the gen- tive behavior and psychotic behavior is a eral population is challenging in and of itself, challenge that may improve the individual’s with outcomes often reflected as a modest

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improvement in cognitive subscale values and priority in all first follow-up visits. Thereafter, measurements of functionality. response to medication and decision making Other treatment options are dictated by what for continuing treatment is judged primarily is uncovered in the workup of other contributing on the basis of subjective and objective findings factors. Treatment of these issues may be quite during the interview and follow-up memory gratifying, as some underlying issues may be testing. Because the impact of these drugs is highly improvable, such as correction of vision often subtle and the theoretical mechanism is impairment; cerumen disimpaction; amplifica- to slow the progression of disease, if the patient tion for hearing deficits; initiation of antidepres- is tolerating the medication, it is often generally sant drug therapy; initiation or adjustment of justifiable to continue treatment until at least thyroid supplementation; adjustment, elimina- moderate-stage disease or beyond. tion, or dose reduction of problematic medica- During the disease course, regular support tions; initiation of continuous positive airway and education are critical. It is helpful to pro- pressure or other noninvasive measures for vide a general estimate of the stage of the disease improvement of sleep disorders; behavioral or (early, middle, or late stage) to the caregiver to environmental modifications; and treatment for help provide stage-specific education and ex- suspected underlying pain, discomfort, and pectations. Early-stage disease warrants coun- mobility difficulties. Occupational and physical seling regarding communication strategies, therapy consults should be considered in modification of expectations at home/day/ helping to enable the individual and care staff work programs, safety concerns, behavior or to help with current difficulties in activities of personality changes, and adapting the level of daily living and in trying to sustain current levels supervision and support to account for short- of function. term memory loss. Pharmacologic treatment of dementia com- Anticipatory guidance is necessary to pre- poses only a portion of the treatment plan. pare caregivers for changes and for setting real- Most of the treatment approach should be non- istic expectations going forward. In the early pharmacologic, via communication and en- stages of disease, it is recommended to educate vironmental and behavioral strategies. This caregivers on certain features that commonly topic is addressed and outlined in rigorous accompany progression to midstage, including detail in the article by Jokinen et al,20 another dysphagia, mobility impairments, new or wors- publication by the NTG. ening urinary incontinence, and seizures. When the individual begins to exhibit changes consis- Follow-up tent with midstage disease, anticipatory guidance At the conclusion of the initial assessment, it should shift to more goal-directed discussions is recommended that a follow-up visit be about future planning, advance directives, and planned to review the results of requested goals of care. Having this discussion proactively studies and to assess response to any recom- allows the caregiver to consider scenarios that mended interventions. If there is any question, may be encountered in late-stage disease while it is often prudent to suspend any formal diag- avoiding having to make decisions in a crisis nosis of dementia until at least the second situation. meeting to allow for proper investigation into One important complicating factor that other contributing factors in the intervening adds a considerable layer of complexity to months. this discussion when caring for individuals There is no consensus or formal framework with I/DD is the issue of guardianship or proper by which a physician treating an individual identification of a decision maker. The discus- with I/DD can judge the response to dementia sion described previously herein would ideally treatment. Outcome measures used in drug be held in-person during an office encounter studies for adults with Down syndrome and de- with the health care proxy or guardian present. mentia typically include measures of cognition, It is common for some older adults with I/DD neuropsychiatric features, adaptive behavior, to have a court-appointed guardian or health and scores on subsequent standardized testing. care proxy who may be a family member or Certainly, assessment of adherence to and someone else. Thus, engaging the decision tolerance of these medications should be a maker in this important discussion may often

838 Mayo Clin Proc. n August 2013;88(8):831-840 n http://dx.doi.org/10.1016/j.mayocp.2013.04.024 www.mayoclinicproceedings.org NTG RECOMMENDATIONS FOR DEMENTIA IN I/DD

be easier said than done but is nonetheless prematurely close a window of opportunity extremely important. to discover potentially modifiable and treatable coexisting conditions. NEED FOR FUTURE RESEARCH AND STUDY As more individuals with I/DD regularly reach ACKNOWLEDGMENTS old age, the need for further life span research This document represents the collective efforts of fi in this eld cannot be overstated. There is a many members of the NTG, with the lead for fi dearth of syndrome-speci c information that organizing, synthesizing, and producing the in- can provide insight into common coincident formation attributed to the authors. The NTG conditions encountered as individuals progress is indebted to the NTG members who offered into adulthood and old age. There remains con- comments, suggestions, and recommendations. flicting information and uncertainty about the relative risk of dementia for adults with all SUPPLEMENTAL ONLINE MATERIAL forms of intellectual disability, and this is a ma- Supplemental material can be found online at fi jor barrier to proper assessment, risk strati ca- http://www.mayoclinicproceedings.org. tion, and guidance. The emerging field of adult developmental medicine has extensively fertile Abbreviations and Acronyms: I/DD = intellectual and de- grounds for research in basic science and clinical velopmental disabilities; NTG = National Task Group on In- areas, especially clinical trials. This field remains tellectual Disabilities and Dementia Practices small in size but large in passion and com- mitment. Consensus guidelines are necessary Grant Support: Support for this work was provided by the American Academy of Developmental Medicine and to help standardize assessment practices among Dentistry and by grant H133B080009 to the Rehabilitation health care professionals performing memory Research and Training Center on Aging With Develop- assessments in this growing population, and mental DisabilitieseLifespan Health and Function at the this is one of the primary aims of the NTG. In University of Illinois at Chicago from the US Department addition, continued training on life span issues of Education, National Institute on Disability and Rehabilita- tion Research. for adults with I/DD needs to be incorporated into the general medical training for providers Correspondence: Address to Julie A. Moran, DO, Depart- of adult medicine, and there are other national ment of Medicine, Tewksbury Hospital, 365 East St, Tewks- efforts under way in this regard. Last, the efforts bury, MA 01876 ([email protected]). of specialists currently working in this field need to be harnessed in a formal manner and REFERENCES supported through funding opportunities so 1. US Department of Health and Human Services. National plan to address Alzheimer’s disease. http://aspe.hhs.gov/daltcp/napa/ that efforts such as those undertaken by the NatlPlan.pdf. Accessed June 13, 2013. NTG can be continued. 2. National Task Group on Intellectual Disabilities and Dementia Practices. “My thinker’s not working”: a national strategy for enabling adults with intellectual disabilities affected by dementia RECOMMENDATIONS to remain in their community and receive quality supports. Similar to other dementia guidelines, the http://aadmd.org/ntg/thinker. Accessed June 13, 2013. 3. Krahn GL, Hammond L, Turner A. A cascade of disparities: National Task Group Consensus Recommen- health and health care access for people with intellectual dis- dations emphasize a stepwise and comprehen- abilities. Ment Retard Dev Disabil Res Rev. 2006;12(1):70-82. sive assessment of suspected cognitive decline. 4. Perkins EA, Moran JA. Aging adults with intellectual disabilities. JAMA. 2010;304(1):91-92. However, in adults with I/DD, history is of 5. Krahn GL, Drum CE. Translating policy principles into practice paramount importance, given the great hetero- to improve health care access for adults with intellectual disabil- geneity of individual baseline or premorbid ities: a research review of the past decade. Ment Retard Dev Dis- abil Res Rev. 2007;13(2):160-168. functioning. In addition to interviewing the 6. Janicki MP, Dalton AJ, eds. Dementia, Aging, and Intellectual Dis- patient, health care professionals are recom- abilities: A Handbook.. Philadelphia, PA: Brunner-Mazel; 1999. mended to engage multiple informants who 7. Lott IT, Head E. Down syndrome and Alzheimer’s disease: a link between development and aging. Ment Retard Dev Disabil know the individual well and to use additional Res Rev. 2001;7(3):172-178. collateral historical information as available. 8. Hof PR, Bouras C, Perl DP, et al. Age-related distribution of Finally, the NTG urges health care profes- neuropathologic changes in the cerebral cortex of patients with Down syndrome: quantitative regional analysis and com- sionals to arrive on the diagnosis of dementia parison with Alzheimer’s disease. Arch Neurol. 1995;52(4): systematically and thoughtfully, so as not to 379-391.

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