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. Mayo Clin Proc. n August 2013;88(8):831-840 n http://dx.doi.org/10.1016/j.mayocp.2013.04.024 831 www.mayoclinicproceedings.org n ª 2013 Mayo Foundation for Medical Education and Research MAYO CLINIC PROCEEDINGS 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 832 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 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

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