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Published in: Child's Nervous System 3/2019

01-03-2019 | Intellectual Disability | Original Article

Factors affecting epilepsy prognosis in patients with tuberous sclerosis

Authors: Gülen Gül Mert, Şakir Altunbaşak, Özlem Hergüner, Faruk İncecik, Hilal Cansever Övetti, Neslihan Özcan, Duygu Kuşçu, İlker Ünal

Published in: Child's Nervous System | Issue 3/2019

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Abstract

Purpose

We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance.

Materials-methods

In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined.

Results

There was a statistical significance between the presence of a history of seizures in the neonatal period, the age of onset of seizures being less than 2 years of age, autism, status epilepticus, Lennox-Gastaut syndrome (LGS), presence of infantile spasm, generalization of the electroencephalography (EEG) findings, the number of tubers in cerebral imaging being more than three and refractory seizures (p < 0.05). Statistically significant relationship was found between presence of a history of seizures in the neonatal period, the age of onset of seizures, autism, LGS, presence of infantile spasm, presence of status epilepticus history, history of using more than three antiepileptic drugs, generalization of EEG findings, presence of SEGA in cerebral imaging, number of tubers being more than three and the patient’s mental retardation (p < 0.05).

Conclusion

In logistic regression analysis, the age of the seizure onset being less than 2 years of age, the presence of autism and number of tubers being more than three in cerebral magnetic resonance imaging (MRI) are determined to be the risk factors that most likely to increase the seizures to be more resistant.
Literature
2.
go back to reference Hallett L, Foster T, Liu Z, Blieden M, Valentim J (2011) Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Curr Med Res Opin 27:1571–1583CrossRefPubMed Hallett L, Foster T, Liu Z, Blieden M, Valentim J (2011) Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Curr Med Res Opin 27:1571–1583CrossRefPubMed
3.
go back to reference Kwiatkowski DJ, Manning BD (2014) Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med 371:778–780CrossRefPubMed Kwiatkowski DJ, Manning BD (2014) Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med 371:778–780CrossRefPubMed
4.
go back to reference Child ND, Benarroch EE (2014) mTOR: its role in the nervous system and involvement in neurologic disease. Neurology 83:1562–1572CrossRefPubMed Child ND, Benarroch EE (2014) mTOR: its role in the nervous system and involvement in neurologic disease. Neurology 83:1562–1572CrossRefPubMed
5.
go back to reference Yates JR, Maclean C, Higgins JN et al (2011) The tuberous sclerosis 2000 study: presentation, initial assessments and implications for diagnosis and management. Arch Dis Child 96:1020–1025CrossRefPubMed Yates JR, Maclean C, Higgins JN et al (2011) The tuberous sclerosis 2000 study: presentation, initial assessments and implications for diagnosis and management. Arch Dis Child 96:1020–1025CrossRefPubMed
6.
go back to reference Chu-Shore CJ, Major P, Camposano S et al (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51:1236–1241CrossRefPubMed Chu-Shore CJ, Major P, Camposano S et al (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51:1236–1241CrossRefPubMed
7.
go back to reference Northrup H, Krueger DA (2013) International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49:243–254CrossRefPubMedPubMedCentral Northrup H, Krueger DA (2013) International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49:243–254CrossRefPubMedPubMedCentral
9.
go back to reference Vignoli A, La Briola F, Turner K, Scornavacca G, Chiesa V, Zambrelli E et al (2013) Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia 54:2134–2142CrossRefPubMed Vignoli A, La Briola F, Turner K, Scornavacca G, Chiesa V, Zambrelli E et al (2013) Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia 54:2134–2142CrossRefPubMed
10.
go back to reference Jozwiak S, Shwarz RA, Janniger CK, Bielicka-Cymerman J (2000) Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 15:652–659CrossRefPubMed Jozwiak S, Shwarz RA, Janniger CK, Bielicka-Cymerman J (2000) Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 15:652–659CrossRefPubMed
11.
go back to reference Sparagana SP, Delgado MR, Batchelor LL, Roach ES (2003) Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex. Arch Neurol 60:1286–1289CrossRefPubMed Sparagana SP, Delgado MR, Batchelor LL, Roach ES (2003) Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex. Arch Neurol 60:1286–1289CrossRefPubMed
12.
go back to reference Wang S, Fallah A (2014) Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat 23:2021–2030 Wang S, Fallah A (2014) Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat 23:2021–2030
13.
go back to reference Shehata H, AbdelGhaffar HM, Nasreldin M, Elmazny A, Abdelalim A, Sabbah A, Shalaby N (2017) Clinical patterns and outcomes of status epilepticus in patients with tuberous sclerosis complex. Ther and Clin Risk Manag 13:779–785CrossRef Shehata H, AbdelGhaffar HM, Nasreldin M, Elmazny A, Abdelalim A, Sabbah A, Shalaby N (2017) Clinical patterns and outcomes of status epilepticus in patients with tuberous sclerosis complex. Ther and Clin Risk Manag 13:779–785CrossRef
14.
go back to reference Saxena A, Sampson JR (2015) Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. Semin Neurol 35:269–276CrossRefPubMed Saxena A, Sampson JR (2015) Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. Semin Neurol 35:269–276CrossRefPubMed
15.
go back to reference Primec ZR, Stare J, Neubauer D (2006) The risk of lower mental outcome in infantile spasms increases after three weeks of hypsarrhythmia duration. Epilepsia 47:2202–2205CrossRefPubMed Primec ZR, Stare J, Neubauer D (2006) The risk of lower mental outcome in infantile spasms increases after three weeks of hypsarrhythmia duration. Epilepsia 47:2202–2205CrossRefPubMed
16.
go back to reference Camposano S, Greenberg E, Kwiatkowski D, Thiele EA (2009) Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet 73:141–146CrossRefPubMed Camposano S, Greenberg E, Kwiatkowski D, Thiele EA (2009) Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet 73:141–146CrossRefPubMed
17.
go back to reference Mizuguchi M, Takashima S (2001) Neuropathology of tuberous sclerosis. Brain and Development 23:508–515CrossRefPubMed Mizuguchi M, Takashima S (2001) Neuropathology of tuberous sclerosis. Brain and Development 23:508–515CrossRefPubMed
18.
go back to reference Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457–1461CrossRefPubMed Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457–1461CrossRefPubMed
19.
go back to reference Chou IJ, Wong A, Wang HS, Chou ML, Hung PC, Hsieh MY, Chang MY (2008) Neuroimaging correlation with neurological severity in tuberous sclerosis complex. Eur J Paediatr Neurol 12:108–112CrossRefPubMed Chou IJ, Wong A, Wang HS, Chou ML, Hung PC, Hsieh MY, Chang MY (2008) Neuroimaging correlation with neurological severity in tuberous sclerosis complex. Eur J Paediatr Neurol 12:108–112CrossRefPubMed
20.
go back to reference Soo MP, Yong JL, Yong JS, Yong OK, Yong JW (2011) Clinical progress of epilepsy in children with tuberous sclerosis: prognostic factors for seizure outcome. Chonnam Med J 47:150–154CrossRef Soo MP, Yong JL, Yong JS, Yong OK, Yong JW (2011) Clinical progress of epilepsy in children with tuberous sclerosis: prognostic factors for seizure outcome. Chonnam Med J 47:150–154CrossRef
21.
go back to reference Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR (1997) Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol 12:85–90CrossRefPubMed Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR (1997) Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol 12:85–90CrossRefPubMed
22.
go back to reference Kopp CM, Muzykewicz DA, Staley BA et al (2008) Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav 13:505–510CrossRefPubMed Kopp CM, Muzykewicz DA, Staley BA et al (2008) Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav 13:505–510CrossRefPubMed
23.
go back to reference Bolton PF, Park RJ, Higgins JN et al (2002) Neuroepileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain 125:1247–1255CrossRefPubMed Bolton PF, Park RJ, Higgins JN et al (2002) Neuroepileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain 125:1247–1255CrossRefPubMed
24.
go back to reference Bolton PF, Griffiths PD (1997) Association of tuberous sclerosis of temporal lobes with autism and atypical autism. Lancet 349:392–395CrossRefPubMed Bolton PF, Griffiths PD (1997) Association of tuberous sclerosis of temporal lobes with autism and atypical autism. Lancet 349:392–395CrossRefPubMed
25.
go back to reference Walz NC, Byars AW, Egelhoff JC, Franz DN (2002) Supratentorial tuber location and autism in tuberous sclerosis complex. J Child Neurol 17:830–832CrossRefPubMed Walz NC, Byars AW, Egelhoff JC, Franz DN (2002) Supratentorial tuber location and autism in tuberous sclerosis complex. J Child Neurol 17:830–832CrossRefPubMed
Metadata
Title
Factors affecting epilepsy prognosis in patients with tuberous sclerosis
Authors
Gülen Gül Mert
Şakir Altunbaşak
Özlem Hergüner
Faruk İncecik
Hilal Cansever Övetti
Neslihan Özcan
Duygu Kuşçu
İlker Ünal
Publication date
01-03-2019

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