Infantile spasms in tuberous sclerosis complex: Prognostic utility of EEG

Epilepsia

Volumn 50, Issue 2, 2009, Pages 290-296

  Muzykewicz, David A ^b   Costello, Daniel J ^b   Halpern, Elkan F ^b   Thiele, Elizabeth A ^a,b  

^a Carol and James Herscot Center for Tuberous Sclerosis Complex   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Cognitive impairment; Electroencephalography; Epilepsy; Infantile spasms; Tuberous sclerosis complex

Indexed keywords

ANTICONVULSIVE AGENT; CORTICOTROPIN; TUBERIN; VIGABATRIN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; INTELLIGENCE QUOTIENT; MALE; PRIORITY JOURNAL; PROGNOSIS; SCORING SYSTEM; SLEEP PATTERN; TSC1 GENE; TUBEROUS SCLEROSIS;

ADOLESCENT; ADRENOCORTICOTROPIC HORMONE; ADULT; ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; PROGNOSIS; RETROSPECTIVE STUDIES; SPASMS, INFANTILE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; VIGABATRIN; WECHSLER SCALES; YOUNG ADULT;

EID: 58849144668     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2008.01788.x     Document Type: Article

References (30)

1. Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H 2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 9 : 88 100.
2. Camposano SE, Major P, Halpern E, Thiele EA 2008) Vigabatrin in the treatment of childhood epilepsy: a retrospective chart review of efficacy and safety profile. Epilepsia 49 : 1186 1191.
3. Curatolo P, Cusmai R, Cortesi F, Chiron C, Jambaqué I, Dulac O 1991) Neuropsychiatric aspects of tuberous sclerosis. Ann N Y Acad Sci 615 : 8 16.
4. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ 2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68 : 64 80.
5. Dulac O, Plouin P, Jambaqué I 1993) Predicting favorable outcome in idiopathic West syndrome. Epilepsia 34 : 747 756.
6. European Chromosome 16 Tuberous Sclerosis Consortium 1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75 : 1305 1315.
7. Fukushima K, Inoue Y, Fujiwara T, Yagi K 2001) Long-term follow-up study of West syndrome associated with tuberous sclerosis. Brain Dev 23 : 698 704.
8. Gaily E, Liukkonen E, Paetau R, Rekola R, Granström ML 2001) Infantile spasms: diagnosis and assessment of treatment response by video-EEG. Dev Med Child Neurol 43 : 658 667.
9. Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA 2005) Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 65 : 235 238.
10. Hrachovy RA, Frost JD Jr. 2003) Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). J Clin Neurophysiol 20 : 408 425.
11. Husain AM, Foley CM, Legido A, Chandler DA, Miles DK, Grover WD 2000) West syndrome in tuberous sclerosis complex. Pediatr Neurol 23 : 233 235.
12. Jambaqué I, Cusmai R, Curatolo P, Cortesi F, Perrot C, Dulac O 1991) Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings. Dev Med Child Neurol 33 : 698 705.
13. Jambaqué I, Chiron C, Dumas C, Mumford J, Dulac O 2000) Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Epilepsy Res 38 : 151 160.
14. Jeavons PM, Bower BD 1964) Infantile spasms: a review of the literature and a study of 112 cases. The Spastics Society Medical Education and Information Unit in Association with William Heinemann Medical Books Limited, London.
15. Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk S, Krawczak M, Sampson JR, Cheadle JP 1997) Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 6 : 2155 2161.
16. Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP 1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64 : 1305 1315.
17. Jozwiak S, Goodman M, Lamm SH 1993) Poor mental development in patients with tuberous sclerosis complex: clinical risk factors. Arch Neurol 55 : 379 384.
18. Koo B, Hwang PA, Logan WJ 1993) Infantile spasms: outcome and prognostic factors of cryptogenic and symptomatic groups. Neurology 43 : 2322 2327.
19. Kramer U, Sue WC, Mikati MA 1997) Hypsarrhythmia: frequency of variant patterns and correlation with etiology and outcome. Neurology 48 : 197 203.
20. Matsumoto A, Watanabe K, Negoro T, Sugiura M, Iwase K, Hara K, Miyazaki S 1981) Long-term prognosis after infantile spasms: a statistical study of prognostic factors in 200 cases. Dev Med Child Neurol 23 : 51 65.
21. O'Callaghan FJ, Harris T, Joinson C, Bolton P, Noakes M, Presdee D, Renowden S, Shiell A, Martyn CN, Osborne JP 2004) The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 89 : 530 533.
22. Primec ZR, Stare J, Neubauer D 2006) The risk of lower mental outcome in infantile spasms increases after three weeks of hypsarrhythmia duration. Epilepsia 47 : 2202 2205.
23. Riikonen R 1982) A long-term follow-up study of 214 children with the syndrome of infantile spasms. Neuropediatrics 13 : 14 23.
24. Riikonen R, Simell O 1990) Tuberous sclerosis and infantile spasms. Dev Med Child Neurol 32 : 203 209.
25. Riikonen R 1996) Long-term outcome of West syndrome: a study of adults with a history of infantile spasms. Epilepsia 37 : 367 372.
26. Roach ES, Sparagana SP 2004) Diagnosis of tuberous sclerosis complex. J Child Neurol 19 : 643 649.
27. Shields WD 2006) Infantile spasms: little seizures, big consequences. Epilepsy Curr 6 : 63 69.
28. Siniatchkin M, van Baalen A, Jacobs J, Moeller F, Moehring J, Boor R, Wolff S, Jansen O, Stephani U 2007) Different neuronal networks are associated with spikes and slow activity in hypsarrhythmia. Epilepsia 48 : 2312 2321.
29. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ 1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 : 805 808.
30. Yamamoto N, Watanabe K, Negoro T, Matsumoto A, Miyazaki S, Kumagai T, Iwase K 1987) Long-term prognosis of tuberous sclerosis with epilepsy in children. Brain Dev 9 : 292 295.