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Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Using the National Library of Medicine (NLM) database PubMed, the authors first identified 18 peer reviewed articles that addressed co‐occurring medical conditions in adults with DS. They provide data on thyroid disease, cervical spine disease, hearing impairment, overweight‐obesity, sleep apnea, congenital heart disease, and osteopenia‐osteoporosis.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

 

First published: 27 April 2020
Citations: 17

Authors listed are in the order of contribution.

Abstract

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance with the potential to develop screening recommendations to improve clinical care for this population. Our workgroup previously identified and prioritized co-occurring medical conditions in adults with DS. In this study, we again performed detailed literature searches on an additional six medical conditions of clinical importance. A series of key questions (KQ) were formulated a priori to guide the literature search strategy. Our KQs focused on disease prevalence, severity, risk-factors, methodologies for screening/evaluation, impact on morbidity, and potential costs/benefits. The available evidence was extracted, evaluated and graded on quality. The number of participants and the design of clinical studies varied by condition and were often inadequate for answering most of the KQ. Based upon our review, we provide a summary of the findings on hip dysplasia, menopause, acquired cardiac valve disease, type 2 diabetes mellitus, hematologic disorders, and dysphagia. Minimal evidence demonstrates significant gaps in our clinical knowledge that compromises clinical decision-making and management of these medically complex individuals. The creation of evidence-based clinical guidance for this population will not be possible until these gaps are addressed.

CONFLICT OF INTEREST

The authors have no conflicts of interest to declare.

Open Research

DATA AVAILABILITY STATEMENT

Data sharing is not applicable to this article as no new data were created or analyzed in this study.

REFERENCES

  • AAP. (1994). Health supervision for children with Down syndromePediatrics93(5), 855859.
  • AAP. (2011). Health supervision for children with Down syndromePediatrics128(2), 393406.
  • Abousamra, O.Bayhan, I. A.Rogers, K. J., & Miller, F. (2016). Hip instability in Down syndrome: A focus on acetabular retroversionJournal of Pediatric Orthopedics36(5), 499504.
  • Acar, P.Laskari, C.Rhodes, J.Pandian, N.Warner, K., & Marx, G. (1999). Three-dimensional echocardiographic analysis of valve anatomy as a determinant of mitral regurgitation after surgery for atrioventricular septal defectsAmerican Journal of Cardiology83(5), 745749.
  • Akin, K. (1988). Macrocytosis and leukopenia in Down’s syndromeJAMA259(6), 842.
  • Alexander, M.Petri, H.Ding, Y.Wandel, C.Khwaja, O., & Foskett, N. (2016). Morbidity and medication in a large population of individuals with Down syndrome compared to the general populationDevelopmental Medicine and Child Neurology58(3), 246254.
  • Altman, K. W.Richards, A.Goldberg, L.Frucht, S., & McCabe, D. J. (2013). Dysphagia in stroke, neurodegenerative disease, and advanced dementiaOtolaryngology Clinics of North America46(6), 11371149.
  • AUCD. (2017). Association of university centers on disabilities. 2017. Retrieved from http://www.aucd.org/template/page.cfm?id=24.
  • Barnett, M. L.Friedman, D., & Kastner, T. (1988). The prevalence of mitral valve prolapse in patients with Down’s syndrome: Implications for dental managementJournal of Oral Surgery Oral Medicine and Oral Pathology66(4), 445447.
  • Bennet, G. C.Rang, M.Roye, D. P., & Aprin, H. (1982). Dislocation of the hip in trisomy 21Journal of Bone and Joint Surgery Britian64(3), 289294.
  • Bertapelli, F.Pitetti, K.Agiovlasitis, S., & Guerra-Junior, G. (2016). Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: A literature reviewResearch in Developmental Disabilities57181192.
  • Bittles, A. H.Bower, C.Hussain, R., & Glasson, E. J. (2007). The four ages of Down syndromeEuropean Journal of Public Health17(2), 221225.
  • Bittles, A. H., & Glasson, E. J. (2004). Clinical, social, and ethical implications of changing life expectancy in Down syndromeDevelopmental Medicine and Child Neurology46(4), 282286.
  • Boylan, M. R.Kapadia, B. H.Issa, K.Perfetti, D. C.Maheshwari, A. V., & Mont, M. A. (2016). Down syndrome increases the risk of short-term complications after Total hip arthroplastyJournal of Arthroplasty31(2), 368372.
  • Capone, G. T.Chicoine, B.Bulova, P.Stephens, M.Hart, S.Crissman, B., … Down Syndrome Medical Interest Group DSMIG-USA Adult Health Care Workgroup. (2018). Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelinesAmerican Journal of Medical Genetics, Part A176(1), 116133.
  • Carfi, A.Brandi, V.Zampino, G.Mari, D., & Onder, G. (2015). Editorial: Care of adults with Down syndrome: Gaps and needsEuropean Journal of Internal Medicine26(6), 375376.
  • Chicoine, B., & McGuire, D. (2010). The guide to good health for teens and adults with Down syndromeMD, Woodbine House: Bethesda.
  • Cohen, W. I., & D. S. M. I. Group. (1999). Health care guidelines for individuals with Down syndrome: 1999 revision of the Down syndrome preventive medical check listDown Syndrome Quarterly4(3), 116.
  • Coppus, A. M.Evenhuis, H. M.Verberne, G. J.Visser, F. E.Eikelenboom, P.van Gool, W. A., … van Duijn, C. M. (2010). Early age at menopause is associated with increased risk of dementia and mortality in women with Down syndromeJournal of Alzheimer’s Disease19(2), 545550.
  • Cosgrave, M. P.Tyrrell, J.McCarron, M.Gill, M., & Lawlor, B. A. (1999). Age at onset of dementia and age of menopause in women with Down’s syndromeJournal of Intellectual Disability Research43(Pt 6), 461465.
  • Crawford, R. W., & Murray, D. W. (1997). Total hip replacement: Indications for surgery and risk factors for failureAnnals of Rheumatologic Disease56(8), 455457.
  • de Graaf, G.Buckley, F., & Skotko, B. G. (2017). Estimation of the number of people with Down syndrome in the United StatesGenetics in Medicine19(4), 439447.
  • Diaz Del Campo, P.Gracia, J.Blasco, J. A., & Andradas, E. (2011). A strategy for patient involvement in clinical practice guidelines: Methodological approachesBMJ Quality and Safety20(9), 779784.
  • Dixon, N. E.Crissman, B. G.Smith, P. B.Zimmerman, S. A.Worley, G., & Kishnani, P. S. (2010). Prevalence of iron deficiency in children with Down syndromeJournal of Pediatrics157(6), 967971.e1.
  • DSMIG-USA. (2019). Down Syndrome Medical Interest Group—USA 2017. Retrieved from http://www.dsmig-usa.org/.
  • Englund, A.Jonsson, B.Zander, C. S.Gustafsson, J., & Anneren, G. (2013). Changes in mortality and causes of death in the Swedish Down syndrome populationAmerican Journal of Medical Genetics, Part A161A(4), 642649.
  • Esbensen, A. J. (2010). Health conditions associated with aging and end of life of adults with Down syndromeInternational Review of Research in Mental Retardation39(C), 107126.
  • Evenhuis, H.Schoufour, J., & Echteld, M. (2013). Frailty and intellectual disability: A different operationalization? Developmental Disability Research Reviews18(1), 1721.
  • Faulks, D.Collado, V.Mazille, M. N.Veyrune, J. L., & Hennequin, M. (2008). Masticatory dysfunction in persons with Down’s syndrome. Part 1: Aetiology and incidenceJournal of Oral Rehabilitation35(11), 854862.
  • Fonseca, C. T.Amaral, D. M.Ribeiro, M. G.Beserra, I. C., & Guimaraes, M. M. (2005). Insulin resistance in adolescents with Down syndrome: A cross-sectional studyBMC Endocrinologic Disorders56.
  • Forster-Gibson, C. and J. M. Berg. (2011). Health watch table: Down syndrome. Tools for Primary Care Providers, 2016. Retrieved from http://www.surreyplace.on.ca/resources-publications/primary-care/tools-for-primary-care-providers/.
  • Fulcher, T.Griffin, M.Crowley, S.Firth, R.Acheson, R., & O, Meara, N. (1998). Diabetic retinopathy in Down’s syndromeBritish Journal of Ophthalmology82(4), 407409.
  • Galley, R. (2005). Medical management of the adult patient with Down syndromeJournal of the American Academy of Physician Assistants18(4), 4552.
  • Gartlehner, G.Patel, S. V.Feltner, C.Weber, R. P.Long, R.Mullican, K., … Viswanathan, M. (2017). Hormone therapy for the primary prevention of chronic conditions in postmenopausal women: Evidence report and systematic review for the US preventive services task forceJournal of the American Medical Association318(22), 22342249.
  • Geggel, R. L.O, Brien, J. E., & Feingold, M. (1993). Development of valve dysfunction in adolescents and young adults with Down syndrome and no congenital heart diseaseJournal of Pediatrics122(5), 821823.
  • Glasson, E. J.Dye, D. E., & Bittles, A. H. (2014). The triple challenges associated with age-related comorbidities in Down syndromeJournal of Intellectual Disability Research58(4), 393398.
  • Glasson, E. J.Sullivan, S. G.Hussain, R.Petterson, B. A.Montgomery, P. D., & Bittles, A. H. (2002). The changing survival profile of people with Down’s syndrome: Implications for genetic counsellingClinical Genetics62(5), 390393.
  • Goldhaber, S. Z.Brown, W. D.Robertson, N.Rubin, I. L., & Sutton, M. G. (1988). Aortic regurgitation and mitral valve prolapse with Down’s syndrome: A case-control studyJournal of Mental Deficiency Research32(Pt 4), 333336.
  • Goldhaber, S. Z.Brown, W. D., & Sutton, M. G. (1987). High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down’s syndromeJournal of the American Medical Association258(13), 17931795.
  • Goldhaber, S. Z.Rubin, I. L.Brown, W.Robertson, N.Stubblefield, F., & Sloss, L. J. (1986). Valvular heart disease (aortic regurgitation and mitral valve prolapse) among institutionalized adults with Down’s syndromeAmerican Journal of Cardiology57(4), 278281.
  • Gonzalez, L. L.Garrie, K., & Turner, M. D. (2018). Type 2 diabetes: An autoinflammatory disease driven by metabolic stressBiochimica Biophysica Acta Molecular Basis of Disease1864(11), 38053823.
  • Gracia, C. R., & Freeman, E. W. (2018). Onset of the menopause transition: The earliest signs and symptomsObstetrics and Gynecology Clinics of North America45(4), 585597.
  • Gross, A. E.Callaghan, J. J.Zywiel, M. G.Greiner, J. J.Kosashvili, Y.Johnson, A. J., … Mont, M. A. (2013). Total hip arthroplasty in Down syndrome patients: An improvement in quality of life: Replacement arthroplasty in Down syndrome (RADS) study groupJournal of Arthroplasty28(4), 701706.
  • Hamada, T.Gejyo, F.Koshino, Y.Murata, T.Omori, M.Nishio, M., … Isaki, K. (1998). Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down’s syndromeJournal of Experimental Medicine1853135.
  • Hammiri, A. E.Drighil, A., & Benhaourech, S. (2016). Spectrum of cardiac lesions associated with isolated cleft mitral valve and their impact on therapeutic choicesArchives of Brazilian Cardiology106(5), 367372.
  • Hashimoto, M.Igari, K.Hanawa, S.Ito, A.Takahashi, A.Ishida, N., … Sasaki, K. (2014). Tongue pressure during swallowing in adults with Down syndrome and its relationship with palatal morphologyDysphagia29(4), 509518.
  • Henderson, A.Lynch, S. A.Wilkinson, S., & Hunter, M. (2007). Adults with Down’s syndrome: The prevalence of complications and health care in the communityBritish Journal of General Practice57(534), 5055.
  • Hennequin, M.Faulks, D.Veyrune, J. L., & Bourdiol, P. (1999). Significance of oral health in persons with Down syndrome: A literature reviewDevelopmental Medicine and Child Neurology41275283.
  • Hresko, M. T.McCarthy, J. C., & Goldberg, M. J. (1993). Hip disease in adults with Down syndromeJournal of Bone and Joint Surgery Britain75(4), 604607.
  • IOM. (2011). Clinical practice guidelines we can trust (p. 291). Washington, D.C.: National Academy Press.
  • Iung, B., & Vahanian, A. (2014). Epidemiology of acquired valvular heart diseaseCanadian Journal of Cardiology30(9), 962970.
  • Jackson, A.Maybee, J.Moran, M. K.Wolter-Warmerdam, K., & Hickey, F. (2016). Clinical characteristics of dysphagia in children with Down syndromeDysphagia31(5), 663671.
  • Jacobsen, S.Sonne-Holm, S.Soballe, K.Gebuhr, P., & Lund, B. (2005). Hip dysplasia and osteoarthrosis: A survey of 4151 subjects from the osteoarthrosis substudy of the Copenhagen City heart studyActa Orthopedica76(2), 149158.
  • Jasien, J.Capone, G.Silverman, W.Shapiro, B.Weadon, C.Rivera, T., & Gonzales-Fernandez, M. (2016). Signs of aspiration in adults with Down syndrome: Prevalence as determined using a water swallowing screen and caregiver reportJournal of Neurology and Neurobiology2(2). https://doi.org/10.16966/2379-7150.120
  • Jensen, K. M., & Bulova, P. D. (2014). Managing the care of adults with Down’s syndromeBritish Medical Journal349, g5596.
  • Jensen, K. M.Taylor, L. C., & Davis, M. M. (2013). Primary care for adults with Down syndrome: Adherence to preventive healthcare recommendationsJournal of Intellectual Disability Research57(5), 409421.
  • Jones, J. R. (2009). Down syndrome health screening, the fife modelBritish Journal of Learning Disabilities3859.
  • Kallen, B.Mastroiacovo, P., & Robert, E. (1996). Major congenital malformations in Down syndromeAmerican Journal of Medical Genetetics, Part A65(2), 160166.
  • Kelley, S. P., & Wedge, J. H. (2013). Management of hip instability in trisomy 21Journal of Pediatric Orthopedics33(Suppl. 1), S33S38.
  • Kerins, G.Petrovic, K.Bruder, M. B., & Gruman, C. (2008). Medical conditions and medication use in adults with Down syndrome: A descriptive analysisDowns Syndrome Research and Practice12(2), 141147.
  • Kohr, L. M.Dargan, M.Hague, A.Nelson, S. P.Duffy, E.Backer, C. L., & Mavroudis, C. (2003). The incidence of dysphagia in pediatric patients after open heart procedures with transesophageal echocardiographyThe Annals of Thoracic Surgery76(5), 14501456.
  • Lavigne, J.Sharr, C.Elsharkawi, I.Ozonoff, A.Baumer, N.Brasington, C., … Skotko, B. G. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry studyAmerican Journal of Medical Genetics, Part A173(6), 15391545.
  • Lavigne, J.Sharr, C.Ozonoff, A.Prock, L. A.Baumer, N.Brasington, C., … Skotko, B. G. (2015). National Down syndrome patient database: Insights from the development of a multi-center registry studyAmerican Journal of Medical Genetics, Part A167A(11), 25202526.
  • Lazenby, T. (2008). The impact of aging on eating, drinking, and swallowing function in people with Down’s syndromeDysphagia23(1), 8897.
  • Luke, D. A.Wald, L. M.Carothers, B. J.Bach, L. E., & Harris, J. K. (2013). Network influences on dissemination of evidence-based guidelines in state tobacco control programsHealth Education and Behavior40(Suppl. 1), 33S42S.
  • Maatta, T.Maatta, J.Tervo-Maatta, T.Taanila, A.Kaski, M., & Iivanainen, M. (2011). Healthcare and guidelines: A population-based survey of recorded medical problems and health surveillance for people with Down syndromeJournal of Intellectual and Developmental Disability36(2), 118126.
  • Malt, E. A.Dahl, R. C.Haugsand, T. M.Ulvestad, I. H.Emilsen, N. M.Hansen, B., … Davidsen, E. M. (2013). Health and disease in adults with Down syndromeTidsskrift for den Norske Lægeforening133(3), 290294.
  • McCabe, L. L.Hickey, F., & McCabe, E. R. (2011). Down syndrome: Addressing the gapsJournal of Pediatrics159(4), 525526.
  • McLean, S.McHale, C., & Enright, H. (2009). Hematological abnormalities in adult patients with Down’s syndromeIrish Journal of Medical Science178(1), 3538.
  • Monteleone, P.Mascagni, G.Giannini, A.Genazzani, A. R., & Simoncini, T. (2018). Symptoms of menopause – global prevalence, physiology and implicationsNature Reviews in Endocrinology14(4), 199215.
  • Murillo, H.Reece, E. A.Snyderman, R., & Sung, N. S. (2006). Meeting the challenges facing clinical research: Solutions proposed by leaders of medical specialty and clinical research societiesAcademic Medicine81(2), 107112.
  • National Institutes of Health (2017). Genetic and Rare Diseases, 2017. Retrieved from https://rarediseases.info.nih.gov/.
  • National Institutes of Health, (2018). The INCLUDE Project Research Plan, 2019. Retrieved from https://www.nih.gov/include-project.
  • NICHD. (2014). Down syndrome directions: NIH research plan on Down syndrome 2014, 2017. Retrieved from https://www.nichd.nih.gov/publications/pubs/Documents/DSResearchPlan_2014.pdf.
  • O, Neill, A. C., & Richter, G. T. (2013). Pharyngeal dysphagia in children with Down syndromeOtolaryngology Head and Neck Surgery149(1), 146150.
  • Ohyama, Y.Utsugi, T.Uchiyama, T.Hanaoka, T.Tomono, S., & Kurabayashi, M. (2000). Prevalence of diabetes in adult patients with Down’s syndrome living in a residential homeDiabetes Care23(5), 705706.
  • Patel, B. N.Seltzer, G. B.Wu, H. S., & Schupf, N. (2001). Effect of menopause on cognitive performance in women with Down syndromeNeuroreport12(12), 26592662.
  • Peprah, E. K.Parisi, M. A.Kaeser, L.Bardhan, S.Oster-Granite, M., & Maddox, Y. T. (2015). DS-connect: A promising tool to improve lives and engage Down syndrome communities worldwideGlobal Heart10(4), 337340.
  • Prasher, V. (1994). Screening of medical problems in adults with Down syndromeDowns Syndrome Research and Practice2(2), 5966.
  • Presson, A. P.Partyka, G.Jensen, K. M.Devine, O. J.Rasmussen, S. A.McCabe, L. L., & McCabe, E. R. (2013). Current estimate of Down syndrome population prevalence in the United StatesJournal of Pediatrics163(4), 11631168.
  • Pueschel, S. (2006). Adults with Down syndromeBaltimore, MD: Paul H. Brookes.
  • Pueschel, S., & Werner, J. (1994). Mitral valve prolapse in persons with Down syndromeResearch in Developmental Disabilities15(2), 9197.
  • S. P. Pueschel, & J. K. Pueschel (Eds.). (1992). Biomedical concerns in persons with Down syndromeBaltimore: Paul H. Brookes Co.
  • Qaseem, A.Snow, V.Owens, D. K.Shekelle, P., & Clinical Guidelines Committee of the American College of Physicians. (2010). The development of clinical practice guidelines and guidance statements of the American College of Physicians: Summary of methodsAnnals of Internal Medicine153(3), 194199.
  • Real de Asua, D.Parra, P.Costa, R.Moldenhauer, F., & Suarez, C. (2014a). A cross-sectional study of the phenotypes of obesity and insulin resistance in adults with Down syndromeDiabetes and Metabolism Journal38(6), 464471.
  • Real de Asua, D.Parra, P.Costa, R.Moldenhauer, F., & Suarez, C. (2014b). Evaluation of the impact of abdominal obesity on glucose and lipid metabolism disorders in adults with Down syndromeResearch in Developmental Disabilities35(11), 29422949.
  • Real de Asua, D.Quero, M.Moldenhauer, F., & Suarez, C. (2015). Clinical profile and main comorbidities of Spanish adults with Down syndromeEuropean Journal of Internal Medicine26(6), 385391.
  • Roberts, G. M.Starey, N.Harper, P., & Nuki, G. (1980). Radiology of the pelvis and hips in adults with Down’s syndromeClinical Radiology31(4), 475478.
  • Rubin, I. L., & Dwyer, F. M. (1989). Management of the geriatric population. In I. L. Rubin & A. C. Crocker (Eds.), Developmental disabilities: Delivery of medical care for children and adults (pp. 398403). Boston: Lea and Febiger.
  • Schoufour, J. D.Evenhuis, H. M., & Echteld, M. A. (2014). The impact of frailty on care intensity in older people with intellectual disabilitiesResearch in Developmental Disabilities35(12), 34553461.
  • Schupf, N.Lee, J. H.Pang, D.Zigman, W. B.Tycko, B.Krinsky-McHale, S., & Silverman, W. (2018). Epidemiology of estrogen and dementia in women with Down syndromeFree Radical Biology and Medicine1146268.
  • Schupf, N.Pang, D.Patel, B. N.Silverman, W.Schubert, R.Lai, F., … Mayeux, R. (2003). Onset of dementia is associated with age at menopause in women with Down’s syndromeAnnals of Neurology54(4), 433438.
  • Schupf, N.Zigman, W.Kapell, D.Lee, J. H.Kline, J., & Levin, B. (1997). Early menopause in women with Down’s syndromeJournal of Intellectual Disability Research41(3), 264267.
  • Seltzer, G. B.Schupf, N., & Wu, H. S. (2001). A prospective study of menopause in women with Down’s syndromeJournal of Intellectual Disability Research45(1), 17.
  • Sha, S.Abdelsabour, H.Vijimohan, S. J.Board, T., & Alshryda, S. (2019). Total hip arthroplasty in patients with trisomy 21: Systematic review and exploratory patient level analysisThe Surgeon17(1), 5257.
  • Shabayek, M. M. (2004). Assessment of the nutritional status of children with special needs in Alexandria. Part II: Anthropometric measuresThe Journal of the Egyptian Public Health Association79(5–6), 363382.
  • Shaw, E. D., & Beals, R. K. (1992). The hip joint in Down’s syndrome. A study of its structure and associated diseaseClinical Orthopedics and Related Research278101107.
  • Siemionow, K.Hansdorfer, M.Janusz, P., & Mardjetko, S. (2017). Complications in adult patients with Down syndrome undergoing cervical spine surgery using current instrumentation techniques and rhBMP-2: A long-term follow-upJournal of Neurologic Surgery: A Century of European Neurosurgery78(2), 113123.
  • Skotko, B.Davidson, E. J., & Weintraub, G. (2013). Contributions of a specialty clinic for children and adolescents with Down syndromeAmerican Journal of Medical Genetics, Part A161A(3), 430437.
  • Smith, C. H.Teo, Y., & Simpson, S. (2014). An observational study of adults with Down syndrome eating independentlyDysphagia29(1), 5260.
  • Smith, D. S. (2001). Health care management of adults with Down syndromeAmerican Family Physician64(6), 10311038.
  • Steingass, K. J.Chicoine, B.McGuire, D., & Roizen, N. J. (2011). Developmental disabilities grown up: Down syndromeJournal of Developmental and Behavioral Pediatrics32(7), 548558.
  • Sullivan, W. F.Heng, J.Cameron, D.Lunsky, Y.Cheetham, T.Hennen, B., … Swift, I. (2006). Consensus guidelines for primary health care of adults with developmental disabilitiesCanadian Family Physician52(11), 14101418.
  • Taggart, L.Coates, V., & Truesdale-Kennedy, M. (2013). Management and quality indicators of diabetes mellitus in people with intellectual disabilitiesJournal of Intellectual Disability Research57(12), 11521163.
  • Tenenbaum, A.Chavkin, M.Wexler, I. D.Korem, M., & Merrick, J. (2012). Morbidity and hospitalizations of adults with Down syndromeResearch in Developmental Disabilities33(2), 435441.
  • Tenneti, N.Dayal, D.Sharda, S.Panigrahi, I.Didi, M.Attri, S. V., … Bhalla, A. K. (2017). Concentrations of leptin, adiponectin and other metabolic parameters in non-obese children with Down syndromeJournal of Pediatric Endocrinology and Metabolism30(8), 831837.
  • Thacker, A.Abdelnoor, A.Anderson, C.White, S., & Hollins, S. (2008). Indicators of choking risk in adults with learning disabilities: A questionnaire survey and interview studyDisability Rehabilitation30(15), 11311138.
  • Thankavel, P. P., & Ramaciotti, C. (2016). Isolated mitral cleft in trisomy 21: An initially ‘Silent’ lesionPediatric Cardiology37(2), 405408.
  • Tumanyan, M. R.Filaretova, O. V.Chechneva, V. V.Gulasaryan, R. S.Butrim, I. V., & Bockeria, L. A. (2015). Repair of complete atrioventricular septal defect in infants with Down syndrome: Outcomes and long-term resultsPediatric Cardiology36(1), 7175.
  • USPSTF. (2008). United States preventive services task force procedure manual, 2010. Retrieved from http://www.preventiveservices.ahrq.gov.
  • van Allen, M. I.Fung, J., & Jurenka, S. B. (1999). Health care concerns and guidelines for adults with Down syndromeAmerican Journal of Medical Genetics89(2), 100110.
  • Van Buggenhout, G. J.Trommelen, J. C.Schoenmaker, A.De Bal, C.Verbeek, J. J.Smeets, D. F., … Fryns, J. P. (1999). Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical careAmerican Journal of Medical Genetics, Part A85(4), 376384.
  • Van Cleve, S.Cannon, S., & Cohen, W. (2006). Clinical practice guidelines for adolescents and young adults with Down syndrome: 12 to 21 yearsJournal of Pediatric Health Care20198205.
  • Vergnes, H.Brisson-Lougarre, A.Limouzy, P.Dray, C., & Grozdea, J. (1992). Phosphotyrosine phosphatase activity and haematologic changes in Down’s syndrome patientsBritish Journal of Haematology80(2), 157159.
  • Vis, J. C.de Bruin-Bon, R. H.Bouma, B. J.Huisman, S. A.Imschoot, L.van den Brink, K., & Mulder, B. J. (2010). Congenital heart defects are under-recognised in adult patients with Down’s syndromeHeart96(18), 14801484.
  • Wachtel, T. J., & Pueschel, S. M. (1991). Macrocytosis in Down syndromeAmerican Journal of Mental Retardation95(4), 417420.
  • Wallace, R. A. (2007). Clinical audit of gastrointestinal conditions occurring among adults with Down syndrome attending a specialist clinicJournal of Intellectual and Developmental Disability32(1), 4550.
  • Wilson, B.Jones, K. B.Weedon, D., & Bilder, D. (2015). Care of adults with intellectual and developmental disabilities: Down syndromeFamily Practice Essentials4392025.
  • Wirth, R.Dziewas, R.Beck, A. M.Clave, P.Hamdy, S.Heppner, H. J., … Volkert, D. (2016). Oropharyngeal dysphagia in older persons: From pathophysiology to adequate intervention—A review and summary of an international expert meetingClinical Intervention in Aging11189208.
  • Yahia, S.El-Farahaty, R. M.El-Hawary, A. K.El-Hussiny, M. A.Abdel-Maseih, H.El-Dahtory, F., & El-Gilany, A. H. (2012). Leptin, insulin and thyroid hormones in a cohort of Egyptian obese Down syndrome children: A comparative studyBMC Endocrinologic Disorders12(1), 22.
  • Zarate, N.Mearin, F.Gil-Vernet, J. M.Camarasa, F., & Malagelada, J. R. (1999). Achalasia and Down’s syndrome: Coincidental association or something else? American Journal of Gastroenterology94(6), 16741677.
  • Zarate, N.Mearin, F.Hidalgo, A., & Malagelada, J. R. (2001). Prospective evaluation of esophageal motor dysfunction in Down’s syndromeAmerican Journal of Gastroenterology96(6), 17181724.
  • Zigman, W. B. (2013). Atypical aging in Down syndromeDevelopmental Disabilities Research Reviews18(1), 5167.

Citing Literature

Number of times cited according to CrossRef: 17

  • Adherence to CPAP therapy in Down syndrome: the population-based DISCOVERY study, Journal of Clinical Sleep Medicine, 10.5664/jcsm.1036419, 3, (453-458), (2023).
  • A biophysiological framework exploring factors affecting speech and swallowing in clinical populations: focus on individuals with Down syndrome, Frontiers in Psychology, 10.3389/fpsyg.2023.108577914, (2023).
  • The prevalence of self-harm and mental disorders among individuals with intellectual disabilities, Nordic Journal of Psychiatry, 10.1080/08039488.2023.2228292, (1-9), (2023).
  • Best practices to reduce COVID-19 in group homes for individuals with serious mental illness and intellectual and developmental disabilities: Protocol for a hybrid type 1 effectiveness-implementation cluster randomized trial, Contemporary Clinical Trials, 10.1016/j.cct.2022.107053125, (107053), (2023).
  • Good health care for a good life? The case of down syndrome, Journal of Policy and Practice in Intellectual Disabilities, 10.1111/jppi.1244320, 2, (147-157), (2022).
  • What brings adults with Down syndrome to the hospital? A retrospective review of a Spanish cohort between 1997 and 2014, Journal of Applied Research in Intellectual Disabilities, 10.1111/jar.1304336, 1, (143-152), (2022).
  • Care of Adults With Down Syndrome: The Nurse Practitioner Perspective, The Journal for Nurse Practitioners, 10.1016/j.nurpra.2022.06.01218, 9, (935-940), (2022).
  • Beyond amyloid: Immune, cerebrovascular, and metabolic contributions to Alzheimer disease in people with Down syndrome, Neuron, 10.1016/j.neuron.2022.04.001110, 13, (2063-2079), (2022).
  • Aging with Down Syndrome—Where Are We Now and Where Are We Going?, Journal of Clinical Medicine, 10.3390/jcm1020468710, 20, (4687), (2021).
  • Adiponectin Modulation by Genotype and Maternal Choline Supplementation in a Mouse Model of Down Syndrome and Alzheimer’s Disease, Journal of Clinical Medicine, 10.3390/jcm1013299410, 13, (2994), (2021).
  • High resolution structural and functional MRI of the hippocampus in young adults with Down syndrome, Brain Communications, 10.1093/braincomms/fcab0883, 2, (2021).
  • Low Rates of Preventive Healthcare Service Utilization Among Adolescents and Adults With Down Syndrome, American Journal of Preventive Medicine, 10.1016/j.amepre.2020.06.00960, 1, (1-12), (2021).
  • A phenotypic approach to understanding obesity in children and youth with Down syndrome, 10.1016/bs.irrdd.2021.08.008, (75-112), (2021).
  • Perioperative care of adults with Down syndrome: a narrative reviewSoins périopératoires des adultes atteints du syndrome de Down: un compte rendu narratif, Canadian Journal of Anesthesia/Journal canadien d’anesthésie, 10.1007/s12630-021-02052-968, 10, (1549-1561), (2021).
  • Specialty clinics for adults with Down syndrome: A clinic survey, American Journal of Medical Genetics Part A, 10.1002/ajmg.a.62169185, 6, (1767-1775), (2021).
  • Esophageal Involvement in Systemic Diseases, The Esophagus, 10.1002/9781119599692.ch18, (312-332), (2021).
  • Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature, American Journal of Medical Genetics Part A, 10.1002/ajmg.a.61924185, 1, (286-299), (2020).

Source: George T. Capone et al.