Rett syndrome: Critical examination of clinical features, serial EEG and video-monitoring in understanding and management

European Journal of Paediatric Neurology

Volumn 2, Issue 3, 1998, Pages 127-135

  Cooper, Rosemary A ^a   Kerr, Alison M ^b,d   Amos, Patricia M ^c  

^a KEELE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c Quarriers Homes   (United Kingdom)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Breathing dysrhythmia; Rett syndrome; Seizures

Indexed keywords

ADOLESCENT; ADULT; AROUSAL; ARTICLE; BREATH HOLDING; BREATHING DISORDER; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; ELECTROENCEPHALOGRAM; HUMAN; HYPERVENTILATION; MAJOR CLINICAL STUDY; PATIENT MONITORING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SEIZURE; SLEEP; VIDEORECORDING;

EID: 0031855416     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(98)80028-7     Document Type: Article

References (56)

1. Kerr A. Rett syndrome: British Longitudinal Study (1982-1990) Survey. In: Rosendaal JJ (ed) Mental Retardation and Medical Care, April 21-24 1991. Den Haag: Uitgeverij Kerckbosch Zeist, 1992: 143-145.
2. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's Syndrome: report of 35 cases. Ann Neurol 1983; 14: 471-479.
3. Verma NP, Chheda RL, Nigro MA, Hart ZH. Electroencephalographic findings in Rett syndrome. Electroenceph Clin Neurophysiol 1986; 64: 394-401.
4. Niedermeyer E, Rett A, Renner H et al. Rett syndrome and the electroencephalogram. Am J Genet 1986; 24: 195-199.
5. Glaze D, Frost J, Renner HY, Percy AK. Rett syndrome: Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol 1987; 44: 1053-1056.
6. Hagne I, Witt-Engerstrom I, Hagberg B. EEG development in Rett syndrome: study of 30 cases. Electroenceph Clin Neurophysiol 1989; 72:1-6.
7. Ishizaki A, Inoue Y, Sadaki H, Fukuyama Y. Longitudinal observation of electroencephalograms in the Rett syndrome. Brain Dev 1989; 11: 407-412.
8. Takeuchi T, Matsumoto A, Kumagi T et al. Long-term evolution EEG features in Rett syndrome. Brain Dysfunction 1989; 2: 34-44.
9. Robb SA, Harden A, Boyd SG. Rett syndrome: an EEG study in 52 girls. Neuropediatrics 1989; 20: 192-195.
10. Niedermeyer E, Naidu S. Further EEG observations in children with the Rett syndrome. Brain Dev 1990; 12: 53-54.
11. Piazza CC, Fisher W, Kiesewetter K et al. Aberrant sleep patterns in children with the Rett syndrome. Brain Dev 1990; 12: 488-493.
12. Ishizaki A. Electroencephalographical study of the Rett syndrome with special reference to the monorhythmic theta activities in adult patients. Brain Dev 1992; 14(S): 31-36.
13. Trevarthen E, Moser HW, Opitz JM. Rett syndrome diagnostic criteria work group. Diagnostic criteria for Rett syndrome. Ann Neurol 1988; 23: 425-428.
14. Hagberg B, Witt-Engerstrom I. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet 1986; 24(SI): 47-59.
15. Kerr A, Amos P, Etchells A. et al. A low cost method for prolonged simultaneous video recording of ambulant subject and electroencephalograph: the Quarriers system. J Ment Defic Res 1988; 32: 497-500.
16. Southall DP, Kerr A, Tiroch E, Amos P et al. Hyperventilation in the awake state potentially treatable component of Rett syndrome. Arch Dis Child 1988; 63: 1039-1048.
17. Kerr AM, Southall DP, Amos P et al. Correlation of electroencephalogram, respiration and movements in the Rett syndrome. Brain Dev 1990; 12: 61-68.
18. Boyd SG, Harden A. Clinical neurophysiology of the central nervous system. In Brett EM (ed) Paediatric Neurology. London: Churchill Livingstone, 1990.
19. Kerr A. A review of the respiratory disorder in the Rett syndrome. Brain Dev 1992; 14(S): 43-45.
20. Aldrich MS, Garofalo EA, Drury I. Epileptiform abnormalities during sleep in Rett syndrome. Electroenceph Clin Neurophysiol 1990; 75: 365-370.
21. Rett A. Uber ein eigenartiges hirnatrophisches Syndrome bei. Hyperammonamie im Kindsalter. Weiner Med Wochenshr 1966; 116: 723-776.
22. Rett A. Cerebral atrophy associated with hyperammonaemia. In: Vinken PJ and Bruyn GW (eds) Handbook of Clinical Neurology. Amsterdam: North Holland 1977: 305-329.
23. Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett's syndrome: Characteristics of respiratory patterns and sleep. Ann Neurol 1987; 21: 377-382.
24. Segawa M, Nomura Y. The pathophysiology of the Rett syndrome from the standpoint of polysomnography. Brain Dev 1992; 12: 55-60.
25. Segawa M, Nomura Y. Polysomnography in the Rett syndrome. Brain Dev 1992; 14(S): 46-54.
26. Cooper RA. Normal sleep. In: Cooper RA (ed) Sleep. London: Chapman and Hall, 1994: 20-26.
27. Comings DE. The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. Am J Med Genet 1986; 24: 383-388.
28. Hulten M, Kerr A. Genomic imprinting. Lancet (letter) 1991; 338: 188-189.
29. Kerr A. Early clinical signs in the Rett disorder. Neuropediatrics 1995; 26: 67-71.
30. Pampiglione G, Harden A. Neurophysiological investigations in GM1 and GM2 gangliosidosis. Neuropediatrics 1984; 16(S): 74-84.
31. Hagberg B, Witt-Engerström I. Early stages of the Rett syndrome and infantile neuronal ceroid lipofuscinosis - A difficult differential diagnosis. Brain Dev 1990; 12: 20-22.
32. Santavuori P. Neuronal ceroid-lipofuscinosis in children. Brain Dev (Tokyo) 1998; 10: 80-83.
33. Harden A, Pampiglione G. Neurophysiological studies (EEG/ERG/VEP/SEP) in children with so-called neuronal ceroid lipofuscinosis (Battens disease) In: Armstrong D, Coppang N, Rider JA (eds) Ceroid Lipofuchinosis (Battens Disease). Amsterdam: Elsevier, 1982.
34. Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of Angelman (happy puppet) syndrome. Eur J Paediat 1988; 147: 508-513.
35. Williams CA, Frias JL. Angelman ('happy puppet') syndrome. Am J Med Genet 1982; 11: 453-460.
36. Pampiglione G, Martinez A. Evolution of Angelman syndrome. Follow-up of three new cases. Electroenceph Clin Neurophysiol 1983; X: 72.
37. Armstrong A, Dunn JK, Antalffy B, Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. Neuropathol Exp Neurol 1995; 54: 195-201.
38. Armstrong D. The neuropathology of the Rett syndrome. Brain Dev 1992; 14S: 89-94.
39. Armstrong DD. The neuropathology of Rett syndrome - overview. Neuropediatrics 1995: 26: 100-104.
40. Baumann ML, Kemper TL, Arin DM. Microscopic observations of the brain in the Rett syndrome. Neuropediatrics 1995; 26: 105-108.
41. Moruzzi G, Magoun HW. Brainstem reticular formation and activation of the EEG. Electroenceph Clin Neurophysiol 1949; 1: 455-473.
42. Heilman KM, Watson RT, Valenstein E, Goldberg ME. Attention. In: American Physiological Society (ed) Handbook of Physiology. The Nervous System. New York: Williams and Wilkins, 1986: 464-477.
43. Denoyer M, Buda C, Jouvet M. La destruction des perikaryas de la formation reticulée mesencephalique et de l'hypothalamus posterieur n'entraine pas de troubles majeurs de l'eveil chez le chat. Comptes Rendues Acad Sci Ser 111 Sci Vie Paris 1989; 309: 265-274.
44. Zoltoski RK, Gillin JC. The neurochemistry of sleep. In: Cooper RA (ed) Sleep. London: Chapman and Hall, 1994: 135-174.
45. Czeisler CA, Richardson GS, Coleman RM et al. Chronotherapy: resetting the circadian clocks of patients with delayed sleep phase insomnia. Sleep 1981; 4: 1-21.
46. Nomura N, Segawa M, Hasegawa M. Rett syndrome - Clinical studies and pathophysiological consideration. Brain Dev 1984; 6: 475-485.
47. Julu POO, Kerr AM, Hansen S. et al. Functional evidence of brainstem immaturity in Rett syndrome. Eur Child Adolescent Psychiat 1998 (S1): in press.
48. Lagercrantz H, Srinivasan M. Development and function of neurotransmitter/modulator systems in the brain stem. In: Hanson MA (ed). The Fetal and Neonatal Brain Stem Developmental and Clinical Issues. Cambridge: Cambridge University Press, 1991:1-20.
49. Nieuwenhuys R. Monoamines in a survey of chemically defined cell groups and pathways. In: Chemoarchitecture of the Brain. Berlin: Springer-Verlag, 1985: 11-41.
50. Kerr AM. Report on the Rett syndrome workshop: Glasgow Scotland 24-25 May 1986. J Ment Defic Res 1987; 31: 93-113.
51. Pelligra R, Norton RD, Wilkinson R et al. Rett syndrome: stimulation of endogenous biogenic amines. Neuropediatrics 1992; 23: 131-137.
52. Takeuchi Y, Sawada T, Jenner P. Early aminergic dysfunction. Brain Dev 1992; 14(S): 131-137.
53. Percy AK. Neurochemistry of the Rett syndrome. Brain Dev 1992; 14(S): 57-62.
54. Kerr AM, Mitchell JM, Robertson PE. Short fourth toes in Rett syndrome: a biological indicator. Neuropediatrics 1995; 26: 72-74.
55. Wu CL, Melton DW. Production of a model for Lcsch Nyhan syndrome in hypoxanthine phosphoribosyltransferase deficient mice. Nature Genet 1993; 3: 235-240.
56. Dubowitz LMS, de Vries LS, Mushin J, Arden GB. Visual function in the newborn infant: is it cortically mediated. Lancet 1986; i: 1139-1141.