Abstract
There has been a growing number of clinical case reports of regression in adolescents and adults with Down syndrome who have shown unexpected and severe regression in cognitive and adaptive functioning, motor function, communication skills, and behavior. In this chapter, we call this adult regression syndrome. It most commonly affects people with Down syndrome in their teens and twenties and is associated with cognitive-executive impairment, social withdrawal, loss of functional language and previously acquired adaptive skills, lasting greater than 3 months. The differential diagnosis is extensive suggesting that the brains of individuals with Down syndrome are vulnerable to further impairment from a variety of underlying causes. Several of the most important diagnoses are discussed further. Prognosis is highly dependent on both the cause and the certainty of the diagnosis. Further study is needed to improve our understanding of adult regression syndrome.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Akahoshi K, Matsuda H, Funahashi M, Hanaoka T, Suzuki Y. Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports. Neuropsychiatr Dis Treat. 2012;8:339–45. https://doi.org/10.2147/NDT.S32767.
Anwar AJ, Walker JD, Frier BM. Type 1 diabetes mellitus and Down’s syndrome: prevalence, management, and diabetic complications. Diabet Med. 1998;15:160–3. https://doi.org/10.1002/(SICI)1096-9136(199802)15:2<160::AID-DIA537>3.0.CO;2-J.
Armangue T, Petit-Pedrol M, Dalmau J. Autoimmune encephalitis in children. J Child Neurol. 2012;27:1460–90. https://doi.org/10.1177/0883073812448838.
Bergholdt R, Eising S, Nerup J, Pociot F. Increased prevalence of Down’s syndrome in individuals with type 1 diabetes in Denmark: a nationwide population-based study. Diabetologia. 2006;49:1179–82. https://doi.org/10.1007/s00125-006-0231-6.
Bouziat R, Hinterleitner R, Brown JJ, Stencel-Baerenwald JE, Ikizler M, Mayassi T, Jabri B. Reovirus infection triggers inflammatory responses to dietary antigens and development of celiac disease. Science. 2017;356:44–50. https://doi.org/10.1126/science.aah5298.
Capone GT, Grados MA, Kaufmann WE, Bernard-Ripoll S, Jewell A. Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist. Am J Med Genet. 2005;134:373–80. https://doi.org/10.1002/ajmg.a.30622.
Capone GT, Goyal P, Ares W, Lannigan E. Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet C Semin Med Genet. 2006;142:158–72.
Capone G, Aidikoff J, Taylor K, Rykiel N. Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: co-morbid obstructive sleep apnea. Am J Med Genet A. 2013;161:2188–96.
Castillo H, Patterson B, Hickey F, Kinsman A, Howard JM, Mitchell T, Molloy CA. Difference in age at regression in children with autism with and without Down syndrome. J Dev Behav Pediatr. 2008;29:89–93. https://doi.org/10.1097/DBP.0b013e318165c78d.
Castro P, Zaman S, Holland A. Alzheimer’s disease in people with Down’s syndrome: the prospects for and the challenges of developing preventative treatments. J Neurol. 2017;264:804–13. https://doi.org/10.1007/s00415-016-8308-8.
Daniels J. Catatonia: clinical aspects and neurobiological correlates. J Neuropsychiatry Clin Neurosci. 2009;21:371–80. https://doi.org/10.1176/appi.neuropsych.21.4.371.
Devenny DA, Matthews A. Regression: atypical loss of attained functioning in children and adolescents with Down syndrome. In: Hodapp RM, editor. International review of research in developmental disabilities, vol. 41. Oxford: Academic Press; 2011. p. 233–64.
Down Syndrome Medical Interest Group-USA Work Group on Regression. July 2017. https://www.dsmig-usa.org.
Fink M, Shorter E, Taylor MA. Catatonia is not schizophrenia: Kraepelin’s error and the need to recognize catatonia as an independent syndrome in medical nomenclature. Schizophr Bull. 2010;36:314–20. https://doi.org/10.1093/schbul/sbp059.
Francis A, Fink M, Appiani F, Bertelsen A, Bolwig TG, Braunig P, Caroff SN, Carroll BT, Cavanna AE, Cohen D, Cottencin O, Cuesta MJ, Daniels J, Dhossche D, Fricchione GL, Gazdag G, Ghaziuddin N, Healy D, Klein D, Kruger S, Lee JW, Mann SC, Mazurek M, McCall WV, McDaniel WW, Northoff G, Peralta V, Petrides G, Rosebush P, Rummans TA, Shorter E, Suzuki K, Thomas P, Vaiva G, Wachtel L. Catatonia in the diagnostic and statistical manual of mental disorders, fifth edition. J ECT. 2010;26:246–7. https://doi.org/10.1097/YCT.0b013e3181fe28bd.
Ghaziuddin M, Tsai LY, Ghaziuddin N. Autism in Down’s syndrome: presentation and diagnosis. J Intellect Disabil Res. 1992;36:449–56.
Ghaziuddin N, Nassiri A, Miles JH. Catatonia in Down syndrome: a treatable cause of regression. Neuropsychiatr Dis Treat. 2015;11:941–9. https://doi.org/10.2147/NDT.S77307.
Head E, Powell D, Gold BT, Schmitt FA. Alzheimer’s disease in Down syndrome. Eur J Neurogen Dis. 2012;1:353–64.
Hepburn S, Philofsky A, Fidler DJ, Rogers S. Autism symptoms in toddlers with Down syndrome: a descriptive study. J Appl Res Intellect Disabil. 2008;21:48–57. https://doi.org/10.1111/j.1468-3148.2007.00368.x.
Hestnes A, Daniel SE, Lees AJ, Brun A. Down’s syndrome and Parkinson’s disease. J Neurol Neurosurg Psychiatry. 1997;62:289.
Jacobs J, Schwartz A, McDougle CJ, Skotko BG. Rapid clinical deterioration in an individual with Down syndrome. Am J Med Genet A. 2016;170:1899–902. https://doi.org/10.1002/ajmg.a.37674.
Kent L, Evans J, Paul M, Sharp M. Comorbidity of autistic spectrum disorders in children with Down syndrome. Dev Med Child Neurol. 1999;41:153–8.
Kinik ST, Ozcay F, Varan B. Type I diabetes mellitus, Hashimoto’s thyroiditis and celiac disease in an adolescent with Down syndrome. Pediatr Int. 2006;48:433–5. https://doi.org/10.1111/j.1442-200X.2006.02238.x.
Kirkhart R, Ahuja N, Lee JW, Ramirez J, Talbert R, Faiz K, Ungvari GS, Thomas C, Carroll BT. The detection and measurement of catatonia. Psychiatry (Edgmont). 2007;4:52–6.
Krinsky-McHale SJ, Jenkins EC, Zigman WB, Silverman W. Ophthalmic disorders in adults with Down syndrome. Curr Gerontol Geriatr Res. 2012;2012:974253. https://doi.org/10.1155/2012/974253.
Kumar V, Rajadhyaksha M, Wortsman J. Celiac disease-associated autoimmune endocrinopathies. Clin Diagn Lab Immunol. 2001;8:678–85. https://doi.org/10.1128/CDLI.8.4.678-685.2001.
Lai F, Williams RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol. 1989;46(8):849–53.
Leroy A, Naudet F, Vaiva G, Francis A, Thomas P, Amad A. Is electroconvulsive therapy an evidence-based treatment for catatonia? A systematic review and meta-analysis. Eur Arch Psychiatry Clin Neurosci. 2017; https://doi.org/10.1007/s00406-017-0819-5.
Mann DM. The pathological association between Down syndrome and Alzheimer disease. Mech Ageing Dev. 1988;43:99–136.
Mårild K, Stephansson O, Grahnquist L, Cnattingius S, Söderman G, Ludvigsson JF. Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study. J Pediatr. 2013;163:237–42. https://doi.org/10.1016/j.jpeds.2012.12.087.
Miles J. Catatonia as a cause of regression in Down syndrome. Presentation at the annual symposium of the Down Syndrome Medical Interest Group-USA, Sacramento, CA. 2017.
Mircher C, Cieuta-Walti C, Marey I, Rebillat AS, Cretu L, Milenko E, Conte M, Sturtz F, Rethore MO, Ravel A. Acute regression in young people with Down syndrome. Brain Sci. 2017;7:E57. https://doi.org/10.3390/brainsci7060057.
Moran JA, Rafii MS, Keller SM, Singh BK, Janicki MP, American Academy of Developmental Medicine and Dentistry, Rehabilitation Research and Training Center on Aging with Developmental Disabilities at University of Illinois at Chicago, American Association on Intellectual and Developmental Disabilities. The National Task Group on Intellectual Disabilities and Dementia Practices consensus recommendations for the evaluation and management of dementia in adults with intellectual disabilities. Mayo Clin Proc. 2013;88:831–40. https://doi.org/10.1016/j.mayocp.2013.04.024.
Myers BA, Pueschel SM. Major depression in a small group of adults with Down syndrome. Res Dev Disabil. 1995;16:285–99.
Padhy SK, Parakh P, Sridhar M. The catatonia conundrum: controversies and contradictions. Asian J Psychiatr. 2014;7:6–9. https://doi.org/10.1016/j.ajp.2013.07.006.
Pellegrini FP, Marinoni M, Frangione V, Tedeschi A, Gandini V, Ciglia F, Mortara L, Accolla RS, Nespoli L. Down syndrome, autoimmunity and T regulatory cells. Clin Exp Immunol. 2012;169:238–43. https://doi.org/10.1111/j.1365-2249.2012.04610.x.
Popova G, Paterson WF, Brown A, Donaldson MD. Hashimoto’s thyroiditis in Down’s syndrome: clinical presentation and evolution. Horm Res. 2008;70:278–84. https://doi.org/10.1159/000157874.
Prasher V. Disintegrative syndrome in young adults [Letter to the editor]. Irish J Psychol Med. 2002;19:101.
Prasher VP, Sachdeva N, Tarrant N. Diagnosing dementia in adults with Down’s syndrome. Neurodegen Dis Manag. 2015;5:249–56. https://doi.org/10.2217/nmt.15.8.
Principi N, Benoli MG, Bianchini S, Esposito S. J Clin Virol. 2017;96:26–31. https://doi.org/10.1016/j.jcv.2017.09.003.
Rasmussen P, Borjesson O, Wentz E, Gillberg C. Autistic disorders in Down syndrome: background factors and clinical correlates. Dev Med Child Neurol. 2001;43:750–4.
Rollin H. Personality in mongolism with special reference to the incidence of catatonic psychosis. Am J Ment Defic. 1946;51:219–37.
Sabbagh M, Edgin J. Clinical assessment of cognitive decline in adults with Down syndrome. Curr Alzheimer Res. 2016;13:30–4.
Shorter E. Making childhood catatonia visible, separate from competing diagnoses (Comment). Acta Psychiatr Scand. 2012;125:3–10. https://doi.org/10.1111/j.1600-0447.2011.01788.x.
Stein DS, Munir KM, Karweck AJ, Davidson EJ, Stein MT. Developmental regression, depression, and psychosocial stress in an adolescent with Down syndrome. J Dev Behav Pediatr. 2013;34:216–8. https://doi.org/10.1097/DBP.0b013e31828b2b42.
Tyrrell J, Cosgrave M, McCarron M, McPherson J, Calvert J, Kelly A, McLaughlin M, Gill M, Lawlor BA. Dementia in people with Down’s syndrome. Int J Geriatr Psychiatry. 2001;16:1168–74.
Vieregge P, Ziemens G, Piosinski A, Freudenberg M, Kömpf D. Parkinsonian features in advanced Down’s syndrome. J Neural Transm Suppl. 1991;33:119–24.
Warren AC, Holroyd S, Folstein FM. Major depression in Down’s syndrome. Br J Psychiatry. 1989;155:202–5.
Wisniewski KE, French JH, Rosen JF, Kozlowski PB, Tenner M, Wisniewski HM. Basal ganglia calcification (BGC) in Down’s syndrome (DS) – Another manifestation of premature aging. Ann N Y Acad Sci. 1982;396:179–89.
Worley G, Crissman BG, Cadogan E, Milleson C, Adkins DW, Kishnani PS. Down syndrome disintegrative disorder: new-onset autistic regression, dementia, and insomnia in older children and adolescents with Down syndrome. J Child Neurol. 2015;30:1147–52. https://doi.org/10.1177/0883073814554654.
Zigman WB, Lott IT. Alzheimer’s disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev. 2007;13:237–46. https://doi.org/10.1002/mrdd.20163.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Chicoine, B., Capone, G. (2019). Regression in Adolescents and Adults with Down Syndrome. In: Prasher, V., Janicki, M. (eds) Physical Health of Adults with Intellectual and Developmental Disabilities. Springer, Cham. https://doi.org/10.1007/978-3-319-90083-4_7
Download citation
DOI: https://doi.org/10.1007/978-3-319-90083-4_7
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-90082-7
Online ISBN: 978-3-319-90083-4
eBook Packages: MedicineMedicine (R0)