European Journal of Internal Medicine 26 (2015) 375–376
Contents lists available at ScienceDirect
European Journal of Internal Medicine journal homepage: www.elsevier.com/locate/ejim
Editorial
Editorial: Care of adults with Down syndrome: Gaps and needs
In their recent article, Real de Asua et al. [1] identified the most common conditions diagnosed in a population of Spanish adults with Down syndrome (DS). DS has historically represented a pediatric condition because of its shortened life span. However, in the last decades, due to increased survival, adults and elders with DS have become an emerging new population with particular characteristics, worthy of care and research. Indeed, life expectancy of persons with DS has dramatically increased, from nine years in 1929 [2] to 60 years in 2002 [3–5]. Furthermore, some forecast that persons with DS would be living as long as the general population within a generation [6]. Prevalence of live births with DS has remained stable in the last 20 years and is estimated to be 1 in every 455 in Europe; this phenomenon seems to be due to both increased maternal age and increased prenatal diagnosis and termination acting in opposed directions [7]. Due to their clinical characteristics, and to the limited knowledge related to their management, adults with DS represent a challenge for physicians. In this context, the manuscript by Real de Asua et al. sheds some light in a field where knowledge is scarce [8–10]. However, there is still a large need for action to fill the gaps in knowledge in the care of adults with DS. First, there is still a problematic lack of data on the prevalence of chronic diseases and aging-related conditions in DS (i.e., falls and fractures, behavioral symptoms, nutritional problems, etc.). In particular, large epidemiological studies are needed to assess the role of traditional risk factors in this population. One example of this is cardiovascular disease and obesity. In the general population, the relationship between obesity and cardiovascular events is well established, while this association might differ in adults with DS, given the low prevalence of cardiovascular events and high prevalence of obesity in this population. Therefore, the phenomenon of ‘reverse epidemiology’ observed in older adults with chronic illnesses in whom traditional risk factors, including hypertension, high cholesterol, and high BMI, might protect from negative health outcomes, could also apply to adults with DS. Second, as a consequence of lack of knowledge about disease prevalence, consensus on standardized protocols for adults with DS has not been reached yet. Information on valid screening tools, the appropriate age to start screening, and frequency of screening needed are not available for adults with DS. Third, little is known about treatment of diseases and conditions observed in adults with DS. For example, clinical trials on treatment with donepezil [11,12] or memantine [13] in Alzheimer's-like dementia in DS persons have not shown a significant improvement on cognition. Osteoporosis is another extremely prevalent disease in adults with DS, but data on the fracture risk and effective prevention treatments are very limited. Low bone formation and decreased bone turnover seems to be the primary cause of osteoporosis in adults with DS, rather than increased bone resorption [14]. Therefore, it might be hypothesized that agents that inhibit bone resorption (i.e., bisphosphonates and denosumab) might not be the best choice
for treatment in this population. This lack of data on effective treatment for common diseases will require physicians to generalize from findings obtained from the general population. However, the extrapolation of evidence from studies performed in the general population to adults with DS is not straightforward. Finally, a crucial issue, and presently unmet need in these persons, concerns the need to transition to adult care. Primary care of these adults is a sensitive issue. Adults with DS, their families, and pediatricians often face hard times initiating the transition to adult-based services, and a considerable portion of adults with DS are impaired to do that. The topic of transition to adult care in persons with DS and other congenital disabilities is, indeed, controversial. In the current literature there seem to be two different approaches: on one hand there are some authors considering these people as normal adults with varying mixtures of special needs, whose care should be brought on by general practitioners [8]. However, due to the complexity of adults with DS there may be an increase in workload for health professionals in the primary care setting, and there is still controversy on whether general practitioners are sufficiently knowledgeable, experienced, or simply available to administer the proper levels of care for these persons [15]. For this reason, it has been proposed that adults with DS might benefit from a comprehensive assessment and management approach [16], based on a close interaction between general practitioners and a comprehensive assessment and management team specialized in the multidimensional assessment of adults with DS. In conclusion, we believe that, in order to promote the best interest of adults with DS and other congenital disabilities, several gaps in knowledge should be filled. In this complex population clinical management should probably differ from the one used for the general adult population. Teaching hospitals and research centers should promote actions to fill these gaps and ensure that general practitioners provide the support and skills needed to appropriately care for these patients. Conflict of interest None. References [1] Real de Asua D, Quero M, Moldenhauer F, Suárez C. Clinical profile and main comorbidities of Spanish adults with Down syndrome. Eur J Intern Med 2015;26:385–91. [2] Oliver C, Holland AJ. Down's syndrome and Alzheimer's disease: a review. Psychol Med 1986;16:307–22. [3] Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002;359:1019–25. [4] Racial disparities in median age at death of persons with Down syndrome—United States, 1968–1997. MMWR Morb Mortal Wkly Rep 2001;50:463–5. [5] Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clin Genet 2002;62:390–3.
http://dx.doi.org/10.1016/j.ejim.2015.04.018 0953-6205/© 2015 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.
376
Editorial
[6] Bittles AH, Glasson EJ. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol 2004;46:282–6. [7] Loane M, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening; 2012. http://dx. doi.org/10.1038/ejhg.2012.94. [8] Jensen KM, Bulova PD. Managing the care of adults with Down's syndrome. BMJ 2014;349 (g5596-g5596). [9] Roizen NJ, Patterson D. Down's syndrome. Lancet 2003;361:1281–9. [10] Einfeld SL, Brown R. Down syndrome—new prospects for an ancient disorder. JAMA 2010;303:2525–6. [11] Prasher VP, Huxley A, Haque MS. A 24-week, double-blind, placebo-controlled trial of donepezil in patients with Down syndrome and Alzheimer's disease—pilot study. Int J Geriatr Psychiatry 2002;17:270–8. [12] Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009:CD007178. http://dx.doi.org/10.1002/ 14651858.CD007178.pub2. [13] Hanney M, Prasher V, Williams N, Jones EL, Aarsland D, Corbett A, et al. Memantine for dementia in adults older than 40 years with Down's syndrome (MEADOWS): a randomised, double-blind, placebo-controlled trial. Lancet 2012;379:528–36. [14] McKelvey KD, Fowler TW, Akel NS, Kelsay Ja, Gaddy D, Wenger GR, et al. Low bone turnover and low bone density in a cohort of adults with Down syndrome. Osteoporos Int 2013;24:1333–8. [15] Glasson EJ, Dye DE, Bittles AH. The triple challenges associated with age-related comorbidities in Down syndrome. J Intellect Disabil Res 2014;58:393–8. [16] Farriols Danés C. Specific aspects of ageing in Down's syndrome. Int Med Rev Down Syndr 2012;16:3–10.
Angelo Carfì Vincenzo Brandi Department of Geriatrics, Centro Medicina dell'Invecchiamento, Università Cattolica del Sacro Cuore, Rome, Italy
Giuseppe Zampino Birth Defects Unit, Department of Pediatrics, Università Cattolica del Sacro Cuore, Rome, Italy Daniela Mari Geriatric Unit, Department of Clinical Sciences and Community Health, University of Milan, Ca' Granda Foundation, Maggiore Policlinico Hospital, Milan, Italy Graziano Onder Department of Geriatrics, Centro Medicina dell'Invecchiamento, Università Cattolica del Sacro Cuore, Rome, Italy Corresponding author at: Centro Medicina dell'Invecchiamento, Dipartimento di Scienze Gerontologiche, Geriatriche e Fisiatriche, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168 Roma, Italy. Tel.: +39 06 30154341; fax: +39 06 3051911. E-mail address: [email protected]. 22 April 2015
Contents lists available at ScienceDirect
European Journal of Internal Medicine journal homepage: www.elsevier.com/locate/ejim
Editorial
Editorial: Care of adults with Down syndrome: Gaps and needs
In their recent article, Real de Asua et al. [1] identified the most common conditions diagnosed in a population of Spanish adults with Down syndrome (DS). DS has historically represented a pediatric condition because of its shortened life span. However, in the last decades, due to increased survival, adults and elders with DS have become an emerging new population with particular characteristics, worthy of care and research. Indeed, life expectancy of persons with DS has dramatically increased, from nine years in 1929 [2] to 60 years in 2002 [3–5]. Furthermore, some forecast that persons with DS would be living as long as the general population within a generation [6]. Prevalence of live births with DS has remained stable in the last 20 years and is estimated to be 1 in every 455 in Europe; this phenomenon seems to be due to both increased maternal age and increased prenatal diagnosis and termination acting in opposed directions [7]. Due to their clinical characteristics, and to the limited knowledge related to their management, adults with DS represent a challenge for physicians. In this context, the manuscript by Real de Asua et al. sheds some light in a field where knowledge is scarce [8–10]. However, there is still a large need for action to fill the gaps in knowledge in the care of adults with DS. First, there is still a problematic lack of data on the prevalence of chronic diseases and aging-related conditions in DS (i.e., falls and fractures, behavioral symptoms, nutritional problems, etc.). In particular, large epidemiological studies are needed to assess the role of traditional risk factors in this population. One example of this is cardiovascular disease and obesity. In the general population, the relationship between obesity and cardiovascular events is well established, while this association might differ in adults with DS, given the low prevalence of cardiovascular events and high prevalence of obesity in this population. Therefore, the phenomenon of ‘reverse epidemiology’ observed in older adults with chronic illnesses in whom traditional risk factors, including hypertension, high cholesterol, and high BMI, might protect from negative health outcomes, could also apply to adults with DS. Second, as a consequence of lack of knowledge about disease prevalence, consensus on standardized protocols for adults with DS has not been reached yet. Information on valid screening tools, the appropriate age to start screening, and frequency of screening needed are not available for adults with DS. Third, little is known about treatment of diseases and conditions observed in adults with DS. For example, clinical trials on treatment with donepezil [11,12] or memantine [13] in Alzheimer's-like dementia in DS persons have not shown a significant improvement on cognition. Osteoporosis is another extremely prevalent disease in adults with DS, but data on the fracture risk and effective prevention treatments are very limited. Low bone formation and decreased bone turnover seems to be the primary cause of osteoporosis in adults with DS, rather than increased bone resorption [14]. Therefore, it might be hypothesized that agents that inhibit bone resorption (i.e., bisphosphonates and denosumab) might not be the best choice
for treatment in this population. This lack of data on effective treatment for common diseases will require physicians to generalize from findings obtained from the general population. However, the extrapolation of evidence from studies performed in the general population to adults with DS is not straightforward. Finally, a crucial issue, and presently unmet need in these persons, concerns the need to transition to adult care. Primary care of these adults is a sensitive issue. Adults with DS, their families, and pediatricians often face hard times initiating the transition to adult-based services, and a considerable portion of adults with DS are impaired to do that. The topic of transition to adult care in persons with DS and other congenital disabilities is, indeed, controversial. In the current literature there seem to be two different approaches: on one hand there are some authors considering these people as normal adults with varying mixtures of special needs, whose care should be brought on by general practitioners [8]. However, due to the complexity of adults with DS there may be an increase in workload for health professionals in the primary care setting, and there is still controversy on whether general practitioners are sufficiently knowledgeable, experienced, or simply available to administer the proper levels of care for these persons [15]. For this reason, it has been proposed that adults with DS might benefit from a comprehensive assessment and management approach [16], based on a close interaction between general practitioners and a comprehensive assessment and management team specialized in the multidimensional assessment of adults with DS. In conclusion, we believe that, in order to promote the best interest of adults with DS and other congenital disabilities, several gaps in knowledge should be filled. In this complex population clinical management should probably differ from the one used for the general adult population. Teaching hospitals and research centers should promote actions to fill these gaps and ensure that general practitioners provide the support and skills needed to appropriately care for these patients. Conflict of interest None. References [1] Real de Asua D, Quero M, Moldenhauer F, Suárez C. Clinical profile and main comorbidities of Spanish adults with Down syndrome. Eur J Intern Med 2015;26:385–91. [2] Oliver C, Holland AJ. Down's syndrome and Alzheimer's disease: a review. Psychol Med 1986;16:307–22. [3] Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002;359:1019–25. [4] Racial disparities in median age at death of persons with Down syndrome—United States, 1968–1997. MMWR Morb Mortal Wkly Rep 2001;50:463–5. [5] Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clin Genet 2002;62:390–3.
http://dx.doi.org/10.1016/j.ejim.2015.04.018 0953-6205/© 2015 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.
376
Editorial
[6] Bittles AH, Glasson EJ. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol 2004;46:282–6. [7] Loane M, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening; 2012. http://dx. doi.org/10.1038/ejhg.2012.94. [8] Jensen KM, Bulova PD. Managing the care of adults with Down's syndrome. BMJ 2014;349 (g5596-g5596). [9] Roizen NJ, Patterson D. Down's syndrome. Lancet 2003;361:1281–9. [10] Einfeld SL, Brown R. Down syndrome—new prospects for an ancient disorder. JAMA 2010;303:2525–6. [11] Prasher VP, Huxley A, Haque MS. A 24-week, double-blind, placebo-controlled trial of donepezil in patients with Down syndrome and Alzheimer's disease—pilot study. Int J Geriatr Psychiatry 2002;17:270–8. [12] Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009:CD007178. http://dx.doi.org/10.1002/ 14651858.CD007178.pub2. [13] Hanney M, Prasher V, Williams N, Jones EL, Aarsland D, Corbett A, et al. Memantine for dementia in adults older than 40 years with Down's syndrome (MEADOWS): a randomised, double-blind, placebo-controlled trial. Lancet 2012;379:528–36. [14] McKelvey KD, Fowler TW, Akel NS, Kelsay Ja, Gaddy D, Wenger GR, et al. Low bone turnover and low bone density in a cohort of adults with Down syndrome. Osteoporos Int 2013;24:1333–8. [15] Glasson EJ, Dye DE, Bittles AH. The triple challenges associated with age-related comorbidities in Down syndrome. J Intellect Disabil Res 2014;58:393–8. [16] Farriols Danés C. Specific aspects of ageing in Down's syndrome. Int Med Rev Down Syndr 2012;16:3–10.
Angelo Carfì Vincenzo Brandi Department of Geriatrics, Centro Medicina dell'Invecchiamento, Università Cattolica del Sacro Cuore, Rome, Italy
Giuseppe Zampino Birth Defects Unit, Department of Pediatrics, Università Cattolica del Sacro Cuore, Rome, Italy Daniela Mari Geriatric Unit, Department of Clinical Sciences and Community Health, University of Milan, Ca' Granda Foundation, Maggiore Policlinico Hospital, Milan, Italy Graziano Onder Department of Geriatrics, Centro Medicina dell'Invecchiamento, Università Cattolica del Sacro Cuore, Rome, Italy Corresponding author at: Centro Medicina dell'Invecchiamento, Dipartimento di Scienze Gerontologiche, Geriatriche e Fisiatriche, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168 Roma, Italy. Tel.: +39 06 30154341; fax: +39 06 3051911. E-mail address: [email protected]. 22 April 2015
