Pediatric Neurology
Volume 25, Issue 4 , Pages 288-294 , October 2001

Rett and Angelman’s syndromes: models of arrested development

  • Michel Philippart, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Philippart; 300 UCLA Medical Plaza; Suite 1247; Los Angeles, CA 90095-6967
    • Brain Research Institute; UCLA; Los Angeles, CA, USA

Received 23 October 2000 ,Accepted 3 April 2001.

References 

  1. Willis T. The anatomy of the brain and the description and use of the nerves. In: The classics of medicine library (facsimile reprint). Birmingham: Gryfon Editions, 1978:160–4.
  2. Geoffroy St Hilaire E. Philosophie anatomique, Vol 2. Considérations d’ou sont déduites des règles pour l’observation des monstres et pour leur classification. Paris: Baillere, 1822:103–23.
  3. Georget E. De la folie. Idiotie Paris: Crávot, 1820:102–5.
  4. Esquirol. E. Des maladies mentales. Paris: Baillere, 1838. English translation: A treatise on insanity. Idiocy. Philadelphia: Lea and Blanchard, 1845. In: The classics of medicine library (facsimile reprint). Birmingham: Gryfon Editions, 1987:445–96.
  5. Atkinson GH, Martineau, H. Letters on the laws of man’s nature and development. Letter XVI, note L. London: John Chapman, 1851: 334–6.
  6. Spencer H. The development hypothesis. Leader, 20 March 1852. Reprint in: Essays first series. London: Green, Longmans, and Roberts, 1857:1–7.
  7. Draper JW. Human physiology, Book 2. New York: Harper, 1856:505–38.
  8. Jackson JH. On the scientific and empirical investigations of the epilepsies 1874-1876. In:  Taylor J editors. Selected writings. Vol 1:London: Hodder and Stoughton; 1931;p. 162–263
  9. Cajal S. Les nouvelles idées sur la structure du systèm nerveux chez l’homme et chez les vertébrés. Paris: C. Reinwald and Cie, 1894. New translation: New ideas on the structure of the nervous system in man and vertebrates. Cambridge, MA: MIT Press, 1990.
  10. Huttenlocher PR. Dendritic and synaptic pathology in mental retardation. Pediatr Neurol. 1991;7:79–85
  11. Chugani HT, Phelps ME. Maturational changes in cerebral function in infants determined by 18FDG positron emission tomography. Science. 1986;231:840–843
  12. Mata M, Fink DJ, Gainer H. Activity-dependent energy metabolism in rat posterior pituitary primarily reflects sodium pump activity. J Neurochem. 1980;34:213–215
  13. Wilkins L. The effects of thyroid deficiency upon the development of the brain. Ass Res Nerv Ment Dis. 1962;39:150–155
  14. Jackson JH. Relations of different divisions of the central nervous system to one another and to parts of the body. Lancet 1898;1:79–87, Remarks: Br Med J 1898;1:65–9.
  15. Gesell A, Amatruda CS. The circumnatal infant. In: The embryology of behavior. New York: Harper, 1945:116–34.
  16. Gesell A. The growth process. In: Infant development. The embryology of early human development. New York: Harper Brothers Publishers, 1952:64–70.
  17. Buhler C. The first year of life. New York: The John Day Company 1930:74–103 and 168–85
  18. McGraw M. The neuromuscular maturation of the human infant. New York: Columbia University Press; 1943;
  19. Vygotsky LS. Collected works, vol 2. The fundamentals of defectology: the problem of mental retardation. New York: Plenum Press, 1993:220–40.
  20. Coghill GE. Anatomy and the problem of behavior. Lecture 1. London: Cambridge University Press, 1929:2–38.
  21. Shatz CJ. Neurotrophins and visual system plasticity. In:  Cowan WM,  Jessell TM,  Zipursky SL editor. Molecular and cellular approaches to neural development. New York: Oxford University Press; 1997;p. 509–524
  22. Fischer KW, Rose SP. Dynamic growth cycles of brain and cognitive development. In:  Thatcher RW,  Lyon GR,  Rumsey J,  Krasnegor N editor. Developmental neuroimaging (Mapping the development of brain and behavior). San Diego, CA: Academic Press; 1996;p. 263–279
  23. Sachs B. On arrested cerebral development, with special reference to its cortical pathology. J Nerv Ment Dis. 1887;14:541–553
  24. Thompson R, Crinella F, Yu J. Brain mechanisms in problem solving and intelligence (A lesion survey of the rat brain). New York: Plenum Press; 1990;
  25. Pribram KH. Holograms. In: The languages of the brain. Englewood Cliffs, NJ: Prentice Hall, Inc., 1971:159–66.
  26. Freeman D. Open questions. In: Origins of life. New York: Cambridge University Press, 1985:60–77.
  27. Gehring WJ. Master control genes in development and evolution (The Homeobox story). New Haven: Yale University Press; 1998;
  28. Nicholls DG. Proteins, transporters and synapses. Oxford: Blackwell Scientific Publishers; 1994;
  29. Armstrong D, Dunn JK, Antalffy B, Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. J Neuropath Exp Neurol. 1995;54:195–201
  30. Amir RE, Vanden Veyer IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–188
  31. Hume D. Treatise of human nature. Book 1, Section VI. London: John Noon, 1739:86–94.
  32. Philippart M. Handwringing in Rett syndrome (A normal developmental stage). Pediatr Neurol. 1992;8:197–199
  33. Budden S. Management of Rett syndrome (A ten year experience). Neuropediatrics. 1995;26:75–77
  34. Philippart M. Rett syndrome associated with tuberous sclerosis in a male and in a female (Evidence for arrested motor and mental development). Am J Med Genet. 1993;48:229–230
  35. Cooper RA, Kerr AM, Amos PM. Rett syndrome (Critical examination of clinical features, serial EEG and video-monitoring in understanding and management). Eur J Paediatr Neurol. 1998;2:127–135
  36. Eyre JA, Kerr AM, Miller S, O’Sullivan MC, Ramesh V. Neurophysiological observations on corticospinal projections to the upper limb in subjects with Rett syndrome. J Neurol Neurosurg Psychiat. 1990;53:874–879
  37. Angelman H. Puppet children. Dev Med Child Neurol. 1965;7:681–688
  38. Guerrini R, DeLorey TM, Bonanni P, et al.  Cortical myoclonus in Angelman syndrome. Ann Neurol. 1996;40:39–48
  39. Steffenburg S, Gilberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome. A population-based study. Pediatr Neurol. 1996;14:131–136
  40. Zappella M. The Rett girls with preserved speech. Brain Dev. 1992;14:98–101
  41. Séguin E. Traitement moral, hygiène et éducation des idiots. Paris: Baillère, 1846. Reprint: Comité d’histoire de la sécurite sociale. Paris: Baillère, 1997.
  42. Séguin E. Idiocy and its treatment by the physiological method. New York: William Wood, 1866. Reprint from: New York: Gryfon Editions, 1994.

PII: S0887-8994(01)00288-0

Pediatric Neurology
Volume 25, Issue 4 , Pages 288-294 , October 2001