Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly well-preserved eye contact and primitive memory, in contrast to a premature neuromuscular aging and often advanced peripheral atrophy, usually combined with dystonic-rigid signs that are predominantly right sided. (J Child Neurol 2005;20:722—727).
Get full access to this article
View all access options for this article.
References
1.
Hagberg B.: Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev2002;8:61—65.
2.
Hagberg B., Hanefeld F., Percy A., et al: An update on clinically applicable diagnostic criteria in Rett syndrome. Eur J Pediatr Neurol2002;6:293—297.
3.
Percy A., Lane L.: Rett syndrome: A model of neurodevelopmental disorders. Rett Syndrome Symposium, 33rd National Meeting of the Child Neurology Society , Ottawa, Canada, October 13, 2004.
4.
Hagberg BA: Rett syndrome: Clinical peculiarities, diagnostic approach, and possible cause . Pediatr Neurol1989;5:75—83.
5.
Amir RE, Van den Veyver IB, Wan M., et al: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet1999 ;23:185—188.
6.
Amir RE, Zoghbi HY: Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet2000;97:147—152.
7.
Zoghbi HY: Postnatal neurodevelopmental disorders: Meeting at the synapse?Science2003;302:826—830.
8.
Hagberg B., Witt Engerström I.: Swedish Rett syndrome basic data register 1960-90. Rett Syndrome in Sweden. Neurodevelopment-Disability-Pathophysiology. Acta Paediatr Scand Suppl1990;369:43—52.
9.
Erlandsson A. , Hagberg B.: MECP2 abnormality phenotypes: Clinicopathologic area with broad variability. J Child Neurol2005;20:000—000.
10.
Hagberg G., Stenbom Y., Witt Engerström I: Head growth in Rett syndrome. Acta Paediatr2000;89:198—202.
11.
Steffenburg U., Hagberg G., Hagberg B.: Epilepsy in a representative series of Rett syndrome. Acta Paediatr2001 ;90:34—39.
12.
Witt-Engerstrom I.: Rett syndrome: A retrospective pilot study on potential early predictive symptomatology. Brain Dev1987;9: 481—486.
13.
Engerstrom IW: Rett syndrome in Sweden. Neurodevelopmentdisability-pathophysiology . Acta Paediatr Scand Suppl1990; 369:1—60.
14.
Hagberg B.: Clinical criteria, stages and natural history. Clin Dev Med1993;127:4—20.
15.
Hagberg B., Erlandsson A., Kyllerman M., et al: Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25. Eur J PaediatrNeurol2003;7:417—421.
16.
Oldfors A., Hagberg B., Nordgren H., et al: Rett syndrome: Spinal cord neuropathology. Pediatr Neurol1988; 4: 172—174.
17.
Nielsen JB, Ravn K., Schwartz M.: A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. Brain Dev2001;23(Suppl 1):S230—S232.
18.
Glaze DG, Frost JDJr, Zoghbi HY, et al: Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol1987;44:1053—1056.
19.
Kerr A., Witt Engerström I: The clinical background to the Rett disorder, in Kerr A, Witt Engerström I (eds): Rett Disorder and the Developing Brain. Oxford, UK, Oxford University Press, 2001, 1—26.
