Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis

Epilepsia

Volumn 55, Issue 1, 2014, Pages 108-116

  Humphrey, Ayla ^a   MacLean, Cathy ^a   Ploubidis, George B ^b   Granader, Yael ^c   Clifford, Michelle ^d   Haslop, Maisy ^e   Neville, Brian G R ^f   Yates, John R W ^a,g   Bolton, Patrick F ^d  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Epilepsy; Infantile spasms; Intellectual development; Seizures; Tuberous sclerosis

Indexed keywords

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CLINICAL ARTICLE; FEMALE; HIGH RISK PATIENT; HUMAN; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LONGITUDINAL STUDY; MALE; MEDICAL HISTORY; MENTAL DEVELOPMENT; MULLEN SCALES OF EARLY LEARNING; PRIORITY JOURNAL; PROSPECTIVE STUDY; RATING SCALE; STRUCTURED INTERVIEW; TUBEROUS SCLEROSIS;

EPILEPSY; INFANTILE SPASMS; INTELLECTUAL DEVELOPMENT; SEIZURES; TUBEROUS SCLEROSIS;

AGE OF ONSET; CHILD DEVELOPMENT; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; INTELLIGENCE TESTS; MALE; NEUROPSYCHOLOGICAL TESTS; PROSPECTIVE STUDIES; SPASMS, INFANTILE; TUBEROUS SCLEROSIS;

EID: 84892905339     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12484     Document Type: Article

References (28)

1. Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR,. (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. Commission on Pediatric Epilepsy of the International League Against Epilepsy. (1992) Workshop on infantile spasms. Epilepsia 33: 195.
3. Cross JH,. (2005) Neurocutaneous syndromes and epilepsy-issues in diagnosis and management. Epilepsia 10: 17-23.
4. Curatolo P, Seri S, Verdecchia M, Bombardieri R,. (2001) Infantile spasms in tuberous sclerosis complex. Brain Dev 23: 502-507.
5. Curatolo P, Verdecchia M, Bombardieri R,. (2002) Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol 6: 15-23.
6. Curatolo P, Jo′zwiak S, Nabbout R,. (2012) Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol 16: 582-586.
7. 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.
8. Darke K, Edwards SW, Hancock E, Johnson AL, Kennedy CR, Lux AL, Newton RW, O'Callaghan FJ, Verity CM, Osborne JP,. (2011) Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial. Arch Dis Child 95: 382-386.
9. Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ,. (2008) Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 14: 843-848.
10. Goorden SM, van Woerden GM, van der Weerd L, Cheadle JP, Elgersma Y,. (2007) Intellectual deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures. Ann Neurol 62: 648-655.
11. Hancock E, Osborne JP, Milner P,. (2001) The treatment of West syndrome: a Cochrane review of the literature to December 2000. Brain Dev 23: 624-634.
12. Holmes GL,. (2005) Effects of seizures on brain development: lessons from the laboratory. Pediatr Neurol 33: 1-11.
13. Humphrey A, Williams J, Pinto E, Bolton PF,. (2004) A prospective longitudinal study of early intellectual development in tuberous sclerosis-a clinic based study. Eur Child Adolesc Psychiatry 13: 159-165.
14. Humphrey A, Neville BG, Clarke A, Bolton PF,. (2006) Autistic regression associated with seizure onset in an infant with tuberous sclerosis. Dev Med Child Neurol 48: 609-611.
15. Humphrey A, Ploubidis GB, Yates JR, Steinberg T, Bolton PF,. (2008) The early childhood epilepsy severity scale (E-Chess). Epilepsy Res 79: 139-145.
16. Jansen FE, Vincken KL, Algra A, Anbeek P, Braams O, Nellist M, Zonnenberg BA, Jennekens-Schinkel A, van den Ouweland A, Halley D, van Huffelen AC, van Nieuwenhuizen O,. (2008) Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. Neurology 70: 916-923. Epub 2007 Nov 21.
17. Jozwiak S, Kotulska K, Domanska-Pakiela D, Lojszczyk B, Syczewska M, Chmielewski D, Dunin-Wa̧sowicz D, Kmiec̈ T, Szymkiewicz-Dangel J, Kornacka M, Kawalec W, Kuczyński D, Borkowska J, Tomaszek K, Jurkiewicz E, Respondek-Liberska M,. (2011) Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol 15: 424-431.
18. Mullen E,. (1995) Mullen scales of early learning. American Guidance Service, Circle Pines, MN.
19. 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.
20. O'Callaghan FJ, Lux AL, Darke K, Edwards SW, Hancock E, Johnson AL, Kennedy CR, Newton RW, Verity CM, Osborne JP,. (2011) The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study. Epilepsia 52: 1359-1364.
21. Orlova KA, Crino PB,. (2010) The tuberous sclerosis complex. Ann N Y Acad Sci 1184: 87-105.
22. Raznahan A, Higgins NP, Griffiths PD, Humphrey A, Yates JR, Bolton PF,. (2007) Biological markers of intellectual disability in tuberous sclerosis. Psychol Med 37: 1293-1304.
23. Shepherd CW, Houser OW, Gomez MR,. (1995) MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. AJNR Am J Neuroradiol 16: 149-155.
24. StataCorp. (1999) Stata statistical software. Release. 6th ed. Stata Corporation, College Station, TX.
25. West WJ,. (1841) On a peculiar form of infantile convulsions. Lancet 35: 724-725.
26. Yates JR,. (2006) Tuberous sclerosis. Eur J Hum Genet 14: 1065-1073.
27. Yates JR, Maclean C, Higgins JN, Humphrey A, le Marechal K, Clifford M, Carcani-Rathwell I, Sampson JR, Bolton PF,. (2011) The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Arch Dis Child 96: 1020-1025.
28. Zupanc ML,. (2003) Infantile spasms. Expert Opin Pharmacother 4: 2039-2048.