The Epilepsies of Rett Syndrome in Indonesia
Keywords:
Rett Syndrome, EEG, epilepsy
Abstract
Objective This study aimed to evaluate various types of sei-zures, EEG findings, and last evolution of epileptic seizures found
in children with Rett Syndrome (RTT).
Methods A case series of ten female subjects from Sardjito Hos-
pital, Yogyakarta; Cipto Mangunkusumo Hospital, Jakarta; and
Hasan Sadikin Hospital, Bandung from February 2001-April 2004.
Diagnosis of RTT was established using necessary and support-
ive criteria by the RTT Diagnostic Criteria Work Group and epi-
lepsy was diagnosed according to clinical and EEG findings.
Results The age during initial diagnosis of RTT ranged from 2
years 6 months - 10 years 2 months (average: 4 years 6 months).
The diagnosis of epilepsy, on the other hand, was established
from 2 years - 5 years 10 months (average: 3 years 8 months).
All subjects (10/10) had abnormal EEG results. Eight out of ten
had epileptiform discharge; the remaining had slowing background
activity. The average age of initial seizure onset was 18 months.
Five were diagnosed as epileptic subjects. Febrile convulsions
were the most common initial seizure. General tonic clonic sei-
zure was major type of seizure which manifested in 2 subjects.
Conclusion All EEG results showed abnormality, although sei-
zure did not appear. Five out of ten subjects experienced epi-
lepsy
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U, Zoghbi HY. Rett Syndrome is caused by mutations in
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genes on for youâ€. Neurology 2001;56:582-5.
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Syndrome. In: Capute AJ, Accardo PJ, editors. Develop-
mental disabilities in infancy and childhood. Baltimore:
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Paediatr. 2001;90(1):34-9.
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Kliegman RM, Jenson HB, editors. Nelson’s textbook of
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p.1793-866.
Retard Dev Disabil Res Rev 2002;8(2):66-71.
2. Naidu S. Rett Syndrome: A disorder affecting early brain
growth. Ann Neurol 1997;42(1):3-9.
3. Menkes JH. Heredodegenerative diseases. In: Menkes
JH, Sarnat HB, editors. Child neurology. Philadelphia:
Lippincott Williams & Wilkins; 2000. p. 171-239.
4. Niedermeyer E, Silva FL. Degenerative disorder of the
central nervous system. In: Niedermeyer E, Silva FL,
editors. Electroencephalography basic principles, clinical
applications, and related fields. 3rd ed. Baltimore: Will-
iams & Wilkins; 1993. p. 365-6.
5. Kerr A. Annotation: Rett syndrome: Recent progress and
implications for research and clinical practice. J Child
Psychol Psychiatry 2002;43(3):277-87.
6. Swaiman KF, Dyken PR. Degenerative diseases prima-
rily of gray matter. In: Swaiman KF, Ashwal S, editors.
Pediatrics neurology principles and practice. 3rd ed. St.
Louis: Mosby; 1999. p. 833-48.
7. The Rett Syndrome Diagnostic Criteria Work Group.
Diagnostic criteria for Rett Syndrome. Ann Neurol
1988;23:425-8.
8. Commission on Classification and Terminology of the
International League Against Epilepsy. Proposal for re-
vised clinical and electroencephalographic classification
of epileptic seizures. Epilepsia 1981;22:489.
9. Huppke P, Held M, Laccone F, Hanefeld F. The spec-
trum of phenotypes in female with Rett syndrome. Brain
Dev 2003;25(5):346-51.
10. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke
U, Zoghbi HY. Rett Syndrome is caused by mutations in
X-linked MECP2, encoding methyl-CpG-binding pro-
tein 2. Nat Genet 1999;23:185-8.
11. Nieto-Barrera M, Nieto-Jimenez M, Diaz F, Campana C,
Sanchez ML, Ruiz del Portal L, et al. Clinical course of
epileptic seizures in Rett’s Syndrome [abstract]. Rev
Neurol 1999;28(5):449-53.
12. Singer HS, Naidu S. Rett Syndrome “We’ll keep the
genes on for youâ€. Neurology 2001;56:582-5.
13. Moser HW, Naidu S. The discovery and study of Rett
Syndrome. In: Capute AJ, Accardo PJ, editors. Develop-
mental disabilities in infancy and childhood. Baltimore:
Brookes; 1991. p. 325-33.
14. Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a rep-
resentative series of Rett Syndrome [abstract]. Acta
Paediatr. 2001;90(1):34-9.
15. Haslam RHA. The nervous system. In: Behrman RE,
Kliegman RM, Jenson HB, editors. Nelson’s textbook of
pediatrics.16th ed. Philadelphia: WB Saunders; 2000.
p.1793-866.
Published
2016-10-13
How to Cite
1.
Herini E, H S, Mangunatmadja I, S P, Pusponegoro H. The Epilepsies of Rett Syndrome in Indonesia. PI [Internet]. 13Oct.2016 [cited 13Nov.2024];45(5):203-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/840
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Received 2016-10-10
Accepted 2016-10-10
Published 2016-10-13
Accepted 2016-10-10
Published 2016-10-13
