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Trisomy 21 pp 3–31Cite as

Clinical Aspects of Down’s Syndrome from Infancy to Adult Life

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Part of the Human Genetics Supplement book series (HUMAN GENETICS,volume 2)

Summary

Clinical pictures of mongoloid persons are demonstrated during different phases of life, with particular reference to the later one. Psychological and intellectual problems, immunologic deficiencies, and early aging are discussed. Histopathologic changes in the thymus are demonstrated. Because of the early aging of mongoloids, we examined the blood serum triglycerides, the cholesterol, and the LDL- and HDL-cholesterol in Down’s syndrome.

Keywords

  • Down Syndrome
  • Adult Life
  • Clinical Aspect
  • Early Aging
  • Premature Aging

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Dedicated to Prof. Andrea Prader for his 60th birthday

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References

  • Adinolfi M, Gardner B, Martin W (1967) Observations on the levels of y G, y A, and y M globulins, anti-A and anti-B agglutinins and antibodies to Escherichia coli in Down’s anomaly. J Clin Pathol 20:860–864

    CrossRef  PubMed  CAS  Google Scholar 

  • Agarwal SS, Blumberg BS, Gerstley BJS, London WT, Sutnik AI, Loeb LA (1970) DNA polymerase activity as an index of lymphocyte stimulation: Studies in Down’s syndrome. J Clin Invest 49: 161

    CrossRef  PubMed  CAS  Google Scholar 

  • Benda CE (1969) Down’s syndrome, mongolism and its management. Grune & Stratton, New York London

    Google Scholar 

  • Bertrand I, Koffas D (1946) Cas d’idiotie mongolienne adulte avec nombreuses plaques séniles et concrétions calcaires pallidales. Rev Neurol (Paris) 78: 338–345

    Google Scholar 

  • Burger PC, Vogel SF (1973) The development of the pathologic changes of Alzheimer’s disease and senile dementia in patients with Down’s syndrome. Am J Pathol 73: 457–476

    PubMed  CAS  Google Scholar 

  • Burgio GR, Ugazio AG (1978 a) Immunity in Down’s syndrome. Eur J Pediatr 127:293–294

    CrossRef  PubMed  CAS  Google Scholar 

  • Burgio GR, Ugazio AG ( 1978 b) Das Down-Syndrom als Immunmangel-Modell. Ergebnisse und Hypothesen. Helv Paediatr Acta 33: 5–9

    Google Scholar 

  • Burgio GR, Ugazio AG, Nespoli L (1974) Peripheral blood “Rosette Forming Lymphocytes” in Down’s syndrome. Experientia 30: 818

    CrossRef  PubMed  CAS  Google Scholar 

  • Burgio GR, Ugazio AG, Nespoli L, Marcioni AF, Botelli AM, Pasquali F (1975) Derangements of immunoglobulin levels, phytohemagglutinin responsiveness and T and B cell markers in Down’s syndrome at different ages. Eur J Immunol 5: 600–603

    CrossRef  PubMed  CAS  Google Scholar 

  • Burgio GR, Lanzavecchia A, Maccario R, Vitiello A, Plebani A, Ugazio AG (1978) Immunodeficiency in Down’s syndrome: T-lymphocyte subset imbalance in trisomic children. Clin Exp Immunol 33: 298–301

    Google Scholar 

  • Dörner K, Gaethke AS, personal communication

    Google Scholar 

  • Down JLH (1866) Observations on an ethnic classification of idiots. London Hospital Clinical Lectures and Reports 3: 259–262

    Google Scholar 

  • Ellis WG, McCulloch JR, Corley CL (1974) Presenile dementia in Down’s syndrome: Ultrastructural identy with Alzheimer’s disease. Neurology (Minnap) 24: 101–106

    Google Scholar 

  • Falls HF (1970) Ocular changes in mongolism. Ann NY Acad Sci 171: 627–636

    CrossRef  Google Scholar 

  • Fialkow PJ (1970) Thyroid autoimmunity and Down’s syndrome. Ann NY Acad Sci 171: 500–511

    CrossRef  Google Scholar 

  • Fialkow PJ, Blumberg BS, London WT, Sutnick A J, Thuline HC (1971) Thyroid antibodies and Australia antigen in Down’s syndrome. J Ment Defic Res 15: 177–180

    PubMed  CAS  Google Scholar 

  • Finch RA, Book JA, Finley WH, Finley SC, Tucker CC (1966) Meiosis in trisomic Down’s syndrome. Ala J Med Sci 3: 117–120

    Google Scholar 

  • Francis SH (1970) Behavior of low-grade institutionalized mongoloids: changes with age. Am J Ment Defic 75: 92–101

    PubMed  CAS  Google Scholar 

  • Fraser M, Mitchell A (1876) Kalmyc idiocy. J ment Sci 22: 169–179

    Google Scholar 

  • Gershwin ME, Crinella FM, Castles JJ, Trent JKT (1977) Immunologic characteristics of Down’s syndrome. J Ment Defic Res 21: 237–249

    PubMed  CAS  Google Scholar 

  • Haberland C (1969) Alzheimer’s disease in Down’s syndrome, clinical-neuro-pathological observations. Acta Neurol Belg 69: 369–380

    CAS  Google Scholar 

  • Hall B (1964) Mongolism in newborns. Acta Paediatr [Suppl] 154: 1–97

    Google Scholar 

  • Heumayer-Skritek M (1975) Zur psychischen Struktur des Mongolismus. Paediatr Pädol [Suppl] 4: 70–82

    CAS  Google Scholar 

  • Hirano A, Zimmerman HM (1962) Alzheimer’s neurofibrillary changes. Arch Neurol 7: 73–88

    Google Scholar 

  • Højager B, Peters H, Byskov AG, Faber M (1978) Folicular development in ovaries of children with Down’s syndrome. Acta Paediatr Scand 67: 637–643

    CrossRef  PubMed  Google Scholar 

  • Jacob H (1956) Mongolismus. In: Lubarsch O, Henke F, Rössle R (eds) Handbuch der speziellen pathologischen Anatomie und Histologic, vol 13. 82–98 Springer, Berlin Göttingen Heidelberg pp 82–98

    Google Scholar 

  • Jelgersma HL (1958) Die frühzeitige Dementia senilis bei Mongoloiden, eine klinische Studie. Folia Psychiatr Neurol Neurochir 61: 367–374

    CAS  Google Scholar 

  • Jervis GA (1948) Early senile dementia in mongoloid idiocy. Am J Psychiatry 105: 102–106

    PubMed  CAS  Google Scholar 

  • Jervis GA (1970) Premature senility in Down’s syndrome. Ann NY Acad Sci 171: 559–561

    CrossRef  Google Scholar 

  • Kjessler B, De La Chapelle A (1971) Meiosis and spermatogenesis in two post-puberal males with Down’s syndrome: 47,XY,G +. Clin Genet 2: 50–57

    CrossRef  PubMed  CAS  Google Scholar 

  • Kohlmann T, Rett A (1975) Klinisch-psychologische Untersuchungen an jugendlichen und erwachsenen Mongoloiden. Paediatr Pädol [Suppl] 4: 48–58

    CAS  Google Scholar 

  • Lejeune J (1979) Investigations biochemiques et trisomie 21. Ann Genet (Paris) 22: 67–75

    CAS  Google Scholar 

  • Levin S, Nir E, Molilner BM (1975) T system immune-deficiency in Down’s syndrome. Pediatrics 56: 123–126

    PubMed  CAS  Google Scholar 

  • Levinson A, Friedman A, Stamps F (1955) Variability of mongolism. Pediatrics 16: 43–54

    PubMed  CAS  Google Scholar 

  • Martin GM (1978) Genetic syndromes in man with potential relevance to the pathobiology of aging. Birth Defects 14 /1: 5–39

    PubMed  CAS  Google Scholar 

  • Melyn MA, White DT (1973) Mental and developmental milestones of non-institutionalized Down’s syndrome children. Pediatrics 52: 542–545

    PubMed  CAS  Google Scholar 

  • Miller ME, Mehmann WJ, Kohn G, Dietz WH (1970) Qualitative and quantitative deficiencies of immunglobulin G ( IgG) in newborns with Down’s syndrome. Ann NY Acad Sci 171: 512–525

    Google Scholar 

  • Miller OJ, Mittwoch U, Penrose LS (1960) Spermatogenesis in man with special reference to aneuploidy. Hereditas 14: 456–462

    Google Scholar 

  • Müller-Hermelink HK (1977) Thymusepithel in der Ontogenese bei primären Immundefekten und Thymomen. Verh Dtsch Ges Pathol 61: 487

    Google Scholar 

  • Murdoch JC, Evans JH (1978) An objective in vitro study of aging in the skin of patients with Down’s syndrome. J Ment Defic Res 22 /2: 131–135

    PubMed  CAS  Google Scholar 

  • Murken AH (1972) Eine spätmittelalterliche Darstellung des Mongolismus-Syndroms auf dem Aachener Passionsaltar. Medizinhist J 7: 103–113

    PubMed  CAS  Google Scholar 

  • Nakamura H (1961) Nature of institutionalized adult mongoloid intelligence. Am J Ment Defic 66: 456–458

    PubMed  CAS  Google Scholar 

  • Neumann MA (1967) Langdon Down syndrome and Alzheimer’s disease. J Neuropathol 26: 149–150

    CAS  Google Scholar 

  • Nikaido T, Austin J, Trueb C, Rinehart R (1972) Studies in aging of the brain. Arch Neurol 27: 549–554

    PubMed  CAS  Google Scholar 

  • O’Hara PT (1972) Electron microscopical study of the brain in Down’s syndrome. Brain 95: 681–684

    CrossRef  Google Scholar 

  • Olson MJ, Shaw C-M (1969) Presenile dementia and Alzheimer’s disease in mongolism. Brain 92: 147–156

    CrossRef  PubMed  CAS  Google Scholar 

  • Øster J, Mikkelsen M, Nielsen A (1975) Mortality and life-table in Down’s syndrome. Acta Paediatr Scand 64: 322–326

    CrossRef  PubMed  Google Scholar 

  • Owens D, Dawson JC, Losin S (1971) Alzheimer’s disease in Down’s syndrome. Am J Ment Defic 75: 606–612

    PubMed  CAS  Google Scholar 

  • Penrose LS, Smith GF (1966) Down’s anomaly. Churchill, London

    Google Scholar 

  • Pfeiffer RA (1971) Das Down-Syndrom (Mongolismus). In: Opitz H, Schmid F (eds) Handbuch der Kinderheilkunde, vol I/1. Springer, Berlin Heidelberg New York, pp 703–729

    Google Scholar 

  • Rabensteiner B (1975) Sozialverhalten, Musikalität und visuelle Wahrnehmung bei mongoloiden Kindern. Paediatr Pädol [Suppl] 4: 59–69

    CAS  Google Scholar 

  • Rett A (1972) Mongolismus — heute. Paediatr Prax 11: 187–194

    Google Scholar 

  • Rett A (1977) Mongolismus. In: Eggert D (ed) Arbeiten zur Theorie und Praxis der Rehabilitation in Medizin, Psychologie und Sonderpädagogik. Huber, Berlin Stuttgart Wien, p 9

    Google Scholar 

  • Sasaki M (1965) Meiosis in a male with Down’s syndrome. Chromosoma 16: 652–657

    PubMed  CAS  Google Scholar 

  • Schlesinger M, Levin S, Handzel Z, Hahn T, Altman J, Chernobilski B, Bos J (1976) Clinical immunological and histopathological evidence for thymic deficiency in Down’s syndrome (mongolism). In: Feldman M, Globerson A (eds) Immune reactivity of lymphocytes. Plenum, New York, p 665–671

    Google Scholar 

  • Schochet SS, Lampert PW, McCormick WF (1973) Neurofibrillary tangles in patients with Down’s syndrome. Acta Neuropathol (Berl) 23: 342–346

    CrossRef  Google Scholar 

  • Schröder J, Lydecken K, De La Chapelle A (1971) Meiosis and spermatogenesis in G-trisomic males. Humangenetik 13: 15–21

    CrossRef  PubMed  Google Scholar 

  • Seger R, Buchinger G, Ströder J (1977) On the influence of age on immunity in Down’s syndrome. Eur J Pediatr 124: 77–87

    CrossRef  PubMed  CAS  Google Scholar 

  • Séguin E (1846) Le traitement moral, l’hygiene et l’éducation des idiots. Baillière, Paris

    Google Scholar 

  • Séguin E (1866) Idiocy: Its treatment by the physiological method. Wood, New York

    Google Scholar 

  • Sim M (1965) Alzheimer’s disease, a forgotten entity. Geriatrics 20: 668–674

    Google Scholar 

  • Sjögren H (1950) Twenty-four cases of Alzheimer’s disease. A clinical analysis. Acta Med Scand [Suppl] 246: 225–233

    Google Scholar 

  • Smith GF (1970) Analysis of clinical features of Down’s syndrome in relation to chromosomal changes. Ann NY Acad Sci 171: 587–601

    CrossRef  Google Scholar 

  • Solitare GB, Lamarche JB (1966) Alzheimer’s disease and senile dementia as seen in mongoloids: Neuropathological observations. Am J Ment Defic 70: 840–848

    Google Scholar 

  • Stearns PE, Droulard KE, Shahhar FH (1960) Studies bearing on fertility of male and female mongoloids. Am J ment Defic 65: 37–41

    PubMed  CAS  Google Scholar 

  • Stiehm ER, Fudenberg HH (1966) Serum levels of immune globulins in health and disease: A survey. Pediatrics 37: 715–727

    Google Scholar 

  • Struwe F (1929) Histopathologische Untersuchungen xber Entstehung und Wesen der senilen Plaques. Z Neurol Psychiatr 122: 291–307

    CrossRef  Google Scholar 

  • Thompson MM (1963) Psychological characteristics relevant to the education of the pre-school mongoloid child. Ment Retard 1: 185–186

    Google Scholar 

  • Tricomi V, Valenti JE, Hall JE (1964) Ovulatory patterns in Down’s syndrome. A pilot study. Am J Obstet Gynecol 89:651’656

    Google Scholar 

  • Ugazio AG, Jayakar S, Marcioni AF, Duse M, Monafo V, Pasquali F, Burgio GR (1977) Immunodeficiency in Down’s syndrome: relationship between presence of human thyreoglobulin antibodies and HBsAG carrier status. Eur J Pediatr 126: 139–146

    CrossRef  PubMed  CAS  Google Scholar 

  • Ugazio AG, Lanzavecchia A, Jayakar S, Plebani A, Duse M, Burgio GR (1978) Immunodeficiency in Down’s syndrome. Acta Paediatr Scand 67: 705–708

    CrossRef  PubMed  CAS  Google Scholar 

  • Verhaart WJC, Jelgersma HC (1952) Early senile dementia in mongolian idiocy. Description of a case. Folia Psychiatr Neerl 55: 453–459

    Google Scholar 

  • Vries-Kruyt T de, Zang KD (1977) Jan. Die Lebensgeschichte eines mongoloiden Kindes. Fischer, Stuttgart

    Google Scholar 

  • Wechsler IS (1963) Clinical neurology, 9th edn. Saunders, Philadelphia

    Google Scholar 

  • Whittingham S, Pitt DB, Sharma DLB, Mackay IR (1977) Stress deficiency of the T-lymphocyte system exemplified by Down syndrome. Lancet 1: 163–166

    CrossRef  PubMed  CAS  Google Scholar 

  • Wolff F de, Schaerer K, Lejeune J (1962) Contribution à l’étude des jumeaux mongoliens. Un cas de monozygotisme hétérocaryote. Helv Paediat. Acta 17: 301–328

    Google Scholar 

  • Zellweger H (1965) Mongolismus — Down’s Syndrom. Ergeb Inn Med Kinderheilkd 22: 268–428

    PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Universitäts-Kinderklinik, Schwanenweg 20, D-2300, Kiel, Federal Republic of Germany

    Marlis Tolksdorf & Hans-Rudolf Wiedemann

Authors
  1. Marlis Tolksdorf
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  2. Hans-Rudolf Wiedemann
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Editor information

Editors and Affiliations

  1. Clinica Pediatrica, Università di Pavia, Italy

    G. Roberto Burgio

  2. Istituto di Biologia Generale e Genetica Medica, Università di Pavia, Italy

    Marco Fraccaro & Luciano Tiepolo & 

  3. Institut für Humangenetik und Anthropologie, Universität Freiburg i. Br, Federal Republic of Germany

    Ulrich Wolf

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© 1981 Springer-Verlag Berlin Heidelberg

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Tolksdorf, M., Wiedemann, HR. (1981). Clinical Aspects of Down’s Syndrome from Infancy to Adult Life. In: Burgio, G.R., Fraccaro, M., Tiepolo, L., Wolf, U. (eds) Trisomy 21. Human Genetics Supplement, vol 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-68006-9_2

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  • DOI: https://doi.org/10.1007/978-3-642-68006-9_2

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