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Diagnosis of Epilepsy in Persons with Intellectual Disabilities

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Abstract

Diagnosing epilepsy and epileptic seizures comprises a wide spectrum of different aspects, each with potential therapeutical relevance. In many cases, the question whether a paroxysmal event can be assigned to an epileptic disorder or classified as a nonepileptic event has to be given priority. Taking a detailed history, clinical monitoring of the paroxysms in question and EEG-recordings are the decisive diagnostic steps to differentiate psychogenic nonepileptic seizures and other short-lasting nonepileptic behavior of various grounds. Important information according to risk prevention and therapeutic measures can be drawn from thorough history taking and observation. Genetic and MRI examinations enable etiological and syndromic allocations, respectively, and in individual cases, imaging will reveal surgical remediable lesions yet in this population. Any clinical- and instrument-based diagnostic step referred to in this chapter requires a considerable amount of time and patience to communicate with the persons concerned and their caregivers; moreover, many examinations can be performed no better than under sedation.

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References

  1. Morgan CL, Baxter H, Kerr MP. Prevalence of epilepsy and associated health service utilization and mortality among patients with intellectual disability. Am J Ment Retard. 2003;108:293–300.

    Article  PubMed  Google Scholar 

  2. Lhatoo SD, Sander JWAS. The epidemiology of epilepsy and learning disability. Epilepsia. 2001;42 Suppl 1:6–9.

    Article  PubMed  Google Scholar 

  3. Matson JL, Bamburg JW, Mayville EA, Khan I. Seizure disorders in people with intellectual disability: an analysis of differences in social functioning, adaptive functioning and maladaptive behaviours. J Intellect Disabil Res. 1999;43(Pt 6):531–9.

    Article  PubMed  Google Scholar 

  4. Gómez MR. Natural history of cerebral tuberous sclerosis. In: Gómez MR, Sampson JR, Whittemore VH, editors. Tuberous sclerosis complex. New York/Oxford: Oxford University Press; 1999. p. 29–46.

    Google Scholar 

  5. Mendez M. Down syndrome, Alzheimer’s disease and seizures. Brain Dev. 2005;27:246–52.

    Article  Google Scholar 

  6. Martin P. Trisomie 21, Dement vom Alzheimer-Typ und Epilepsie. Z Epileptol. 2012;25:41–8.

    Article  Google Scholar 

  7. Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, et al. Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11–13. Arch Neurol. 2006;63(1):122–8.

    Article  PubMed  Google Scholar 

  8. D’Orsi G, Trivisano M, Luisi C, Demaio V, Di Claudio MT, Pascarella MG, et al. Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy. Epilepsy Behav. 2012;25(3):401–7.

    Article  PubMed  Google Scholar 

  9. Dravet C, Bureau M, Oguni H. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Breau M, Dravet C, editors. Epileptic syndromes in infancy childhood and Adolescence. Eastleigh: John Libbey; 2002. p. 81–103.

    Google Scholar 

  10. Martin P, Rautenstrauß B, Abicht A, Fahrbach J, Koster S. Severe myoclonic epileptsy in infancy – adult phenotype with bradykinesia, hypomimia, and perseverative behavior: report of five cases. Mol Syndromol. 2010;1(5):231–8.

    Article  CAS  PubMed  Google Scholar 

  11. Mullatti N, Selway R, Nashef L, Elwes R, Honavar M, Chandler C, et al. The clinical spectrum of epilepsy in children and adults with hypothalamic hamartoma. Epilepsia. 2003;44:1310–9.

    Article  PubMed  Google Scholar 

  12. Berkovic SF, Kuzniecky RI, Andermann F. Human epileptogenesis and hypothalamic hamartomas: new lessons from an experiment of nature. Epilepsia. 1997;38:1–3.

    Article  CAS  PubMed  Google Scholar 

  13. Kohler CG, Carran MA, Bilker W, O’Connor MJ, Sperling MR. Association of fear auras with mood and anxiety disorders after temporal lobectomy. Epilepsia. 2001;42:674–81.

    Article  CAS  PubMed  Google Scholar 

  14. Kanner AM, Kuzniecky R. Psychiatric phenomena as an expression of postictal and paraictal events. In: Ettinger AB, Kanner AM, editors. Psychiatric issues in epilepsy: a practical guide to diagnosis and treatment. Philadelphia: Lippincott Williams & Wilkins; 2001. p. 163–79.

    Google Scholar 

  15. Schachter SC. Aggressive behaviour in epilepsy. In: Ettinger AB, Kanner AM, editors. Psychiatric issues in epilepsy: a practical guide to diagnosis and treatment. Philadelphia: Lippincott Williams & Wilkins; 2001. p. 201–14.

    Google Scholar 

  16. Blanchet P, Frommer GP. Mood change preceding epileptic seizures. J Nerv Ment Dis. 1986;174:471–6.

    Article  CAS  PubMed  Google Scholar 

  17. Lindblom N, Heiskala H, Kaski M, Leinonen L, Nevanlinna A, Iivanainen M, et al. Neurological impairments and sleep-wake bahaviour among mentally retarded. J Sleep Res. 2001;10(4):309–18.

    Article  CAS  PubMed  Google Scholar 

  18. Alessi R, Vincentiis S, Rzezak P, Valente KD. Semiology of psychogenic nonepileptic seizures: age related differendces. Epilepsy Behav. 2013;27:292–5.

    Article  PubMed  Google Scholar 

  19. Young C, Shankar R, Palmer J, Craig J, Hargreaves C, McLean B, et al. Does intellectual disability increase sudden unexpected death in epilepsy (SUDEP) risk? Seizure. 2015;25:112–6.

    Article  PubMed  Google Scholar 

  20. Kiani R, Tyrer F, Jesu A, Bhaumik S, Gangavati S, Walker G, et al. Mortality from sudden unexpected death in epilepsy (SUDEP) in a cohort of adults with intellectual disability. J Intellect Disabil Res. 2014;58:508–20.

    Article  CAS  PubMed  Google Scholar 

  21. Mostacci B, Bisulli F, Vignatelli L, Licchetta L, Di Vito L, Rinaldi C, et al. Incidence of sudden unexpected death in nocturnal frontal lobe epilepsy: a cohort study. Sleep Med. 2015;16(2):232–6.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Duncan S, Brodie JW. Sudden unexpected death in epilepsy. Epilepsy Behav. 2011;21:344.

    Article  PubMed  Google Scholar 

  23. Nobili L, Proserpio P, Rubboli G, Montano N, Didato G, Tassinari CA. Sudden unexpected death in epilepsy (SUDEP) and sleep. Sleep Med Rev. 2011;15(4):237–46.

    Article  PubMed  Google Scholar 

  24. Novak JL, Miller PR, Markovic D, Meymandi SK, DeGiorgio CM. Risk assessment for sudden death in epilepsy: the SUDEP-7 inventory. Front Neurol. 2015;6:252. doi:10.3389/fneur2015.00252.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Van de Val A, Cuppens K, Bonroy B, Milosevic M, Jansen K, Van Huffel S, et al. Non-EEG seizure-detection systems and potential SUDEP prevention: state of the art. Seizure. 2013;22(5):345–55.

    Article  Google Scholar 

  26. Nakken KO, Lossius R. Seizure-related injuries in multihandicapped patients with therapy-resistant epilepsy. Epilepsia. 1993;34:836–40.

    Article  CAS  PubMed  Google Scholar 

  27. Tinuper P, Cerullo A, Marini C, Avoni P, Rosati A, Riva R, et al. Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis. J Neurol Neurosurg Psychiatry. 1998;64(2):231–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Frucht MM, Quigg M, Schwaner C, et al. Distribution of seizure precipitants among epilepsy syndromes. Epilepsia. 2000;41(12):1534–9.

    Article  CAS  PubMed  Google Scholar 

  29. Galvan-Manso M, Campistol J, Conill J, Sanmartí FX. Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. Epileptic Disord. 2005;7(1):19–25.

    PubMed  Google Scholar 

  30. Ernst JP. Fever can suppress epilepsy seizures. Epilepsia. 2004;45 Suppl 3:199.

    Google Scholar 

  31. Bebek N, Baykan B, Gurses C, Emir O, Gökyiğit A. Self-induction behavior in patients with photosensitive and hot water epilepsy: a comparative study from a tertiary epilepsy center in Turkey. Epilepsy Behav. 2006;9(2):317–26.

    Article  CAS  PubMed  Google Scholar 

  32. Ng BY. Psychiatric aspects of self-induced epileptic seizures. Aust N Z J Psychiatry. 2002;36(4):534–43.

    Article  PubMed  Google Scholar 

  33. Binnie CD. Self-induction of seizures: the ultimate non-compliance. Epilepsy Res Suppl. 1988;1:153–8.

    CAS  PubMed  Google Scholar 

  34. Bazil CW. Epilepsy and sleep disturbance. Epilepsy Behav. 2003;4 Suppl 2:S39–45.

    Article  PubMed  Google Scholar 

  35. Schmitz B. Psychiatric syndromes related to antiepileptic drugs. Epilepsia. 1999;40 Suppl 10:S65–70.

    Article  CAS  PubMed  Google Scholar 

  36. Chen Z, Liew D, Kwan P. Effects of a HLA-B*15:02 screening policy on antiepileptic drug use and severe skin reactions. Neurology. 2014;83:2077–84.

    Article  CAS  PubMed  Google Scholar 

  37. Taur SR, Kulkarni NB, Gandhe PP, Thelma BK, Ravat SH, Gogtay NJ, et al. Association of polymorphisms of CYP2C9, CYP2C19, and ABCB1, and activity of P-glycoprotein with response to anti-epileptic drugs. J Postgrad Med. 2014;60(3):265–9.

    Article  CAS  PubMed  Google Scholar 

  38. Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure. 2010;19(3):140–6.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Noh GJ, Asher JT, Graham JM. Clinical review of genetic epileptic encephalopathies. Eur J Med Genet. 2012;55:281–98.

    Article  PubMed  PubMed Central  Google Scholar 

  40. D’Amelio M, Shinnar S, Hauser WA. Epilepsy in children with mental retardation and cerebral palsy. In: Devinsky O, Westbrook LE, editors. Epilepsy and developmental disabilities. Boston/Oxford/Auckland: Butterworth Heinemann; 2002. p. 3–15.

    Google Scholar 

  41. Uvebrant P. Hemiplegic cerebral palsy. Aetiology and outcome. Acta Paediatr Scand Suppl. 1988;345:1–100.

    Article  CAS  PubMed  Google Scholar 

  42. Tuchman RF, Rapin I. Epilepsy in autism. Lancet Neurol. 2002;1:352–8.

    Article  PubMed  Google Scholar 

  43. Danielsson S, Gillberg C, Billstedt E, Gillberg C, Olsson I. Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood. Epilepsia. 2005;46(6):918–23.

    Article  PubMed  Google Scholar 

  44. Bizzotto S, Francis F. Morphological and functional aspects of progenitors perturbed in cortical malformations. Front Cell Neurosci. 2015;9:30. doi:10.3389/fncel.2015.00030.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Petryk A, Graf D, Marcucio R. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol. 2015;4:17–32.

    Article  CAS  PubMed  Google Scholar 

  46. Cohen MM. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006;76(9):658–73.

    Article  CAS  PubMed  Google Scholar 

  47. Ten Donkelaar HJ, Lammens M, Cruysberg JRM. Development and developmental disorders of the forebrain. In: Ten Donkelaar HJ, Lammens M, Hori A, editors. Clinical neuroembryology. Berlin/Heidelberg/New York: Springer; 2006. p. 345–411.

    Chapter  Google Scholar 

  48. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology. 2005;65(12):1873–87.

    Article  CAS  PubMed  Google Scholar 

  49. Uyanik G, Hehr U, Martin P. Genetics of cerebral malformations: neuronal migration disorders. Med M Geist M Behind. 2005;2:9–21.

    Google Scholar 

  50. Warkany J, Lemire RJ, Cohen MM. Mental retardation and congenital malformations of the central nervous system. Chicago/London: Year Book Medical Publishers; 1981.

    Google Scholar 

  51. Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol. 2002;17:548–54.

    Article  CAS  PubMed  Google Scholar 

  52. Shepherd CW. The epidemiology of the tuberous sclerosis complex. In: Gómez MR, Sampson JR, Whittemore VH, editors. Tuberous sclerosis complex. New York/Oxford: Oxford University Press; 1999. p. 24–8.

    Google Scholar 

  53. Cross JH. Neurocutaneous syndromes and epilepsy — issues in diagnosis and management. Epilepsia. 2005;46 Suppl 10:17–23.

    Article  PubMed  Google Scholar 

  54. Barkovich AJ. Pediatric neuroimaging. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2000.

    Google Scholar 

  55. Cohen MM. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet. 2005;137:38–52.

    Article  Google Scholar 

  56. De Freitas GR, De Oliveira CP, Reis RS, Sarmento MR, Gaspar NK, Fialho M, et al. Seizures in Chediak-Higashi syndrome. Case report. Arq Neuropsiquiatr. 1999;57(2B):495–7.

    Article  PubMed  Google Scholar 

  57. Murphy MJ, Tenser RB. Nevoid basal cell carcinoma syndrome and epilepsy. Ann Neurol. 1982;11:372–6.

    Article  CAS  PubMed  Google Scholar 

  58. Incontinentia pigmenti international foundation. http://imgen.bcm.tmc.edu/IPIF.

  59. Baker RS, Ross PA, Baumann RJ. Neurologic complications of epidermal nevus syndrome. Arch Neurol. 1987;44:227–32.

    Article  CAS  PubMed  Google Scholar 

  60. Vujevich JJ. Mancini AJThe epidermal nevus syndromes: multisystem disorders. J Am Acad Dermatol. 2004;50:957–61.

    Article  PubMed  Google Scholar 

  61. American Electroencephalographic Society Guidelines in EEG, 1–7 (revised 1985). J Clin Neurophysiol. 1986;3:131–68.

    Google Scholar 

  62. Sam MC, So EL. Significance of epileptiform discharges in patients without epilepsy in the community. Epilepsia. 2001;42:1273–8.

    Article  CAS  PubMed  Google Scholar 

  63. Verma A, Radtke R. EEG of partial seizures. J Clin Neurophysiol. 2006;23:333–9.

    Article  PubMed  Google Scholar 

  64. Mendez OE, Brenner RP. Increasing the yield of EEG. J Clin Neurophysiol. 2006;23:282–93.

    Article  PubMed  Google Scholar 

  65. Blume WT, David RB, Gómez MR. Generalized sharp and slow wave complexes. Associated clinical features and long-term follow-up. Brain. 1973;96:353–63.

    Article  Google Scholar 

  66. Leach JP, Stephen LJ, Salveta C, Brodie MJ. Which electroencephalography (EEG) for epilepsy? The relative usefulness of different EEG protocols in patients with possible epilepsy. J Neurol Neurosurg Psychiatry. 2006;77(9):1040–2.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  67. Camfield PR. Definition and natural history of Lennox-Gastaut syndrome. Epilepsia. 2011;52 Suppl 5:3–9.

    Article  PubMed  Google Scholar 

  68. Hirt HR. Nosology of Lennox-Gastaut syndrome. Nervenarzt. 1996;7:109–22.

    Google Scholar 

  69. Beaumanoir A. Les limites nosologiques du syndrome de Lennox-Gastaut. [in French] Rev EEG Neurophysiol. 1981;11(3–4):468–73.

    Google Scholar 

  70. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. In: Roger J, Breau M, Dravet C, editors. Epileptic syndromes in infancy childhood and adolescence. Eastleigh: John Libbey; 2002. p. 33–44.

    Google Scholar 

  71. Guerrini R, Parmeggiani L, Kaminska A. Myoclonic astatic epilepsy. In: Roger J, Breau M, Dravet C, editors. Epileptic syndromes in infancy, childhood and adolescence. Eastleigh: John Libbey; 2002. p. 105–12.

    Google Scholar 

  72. Bureau M, Tassinari CA. The syndrome of myoclonic absences. In: Roger J, Breau M, Dravet C, editors. Epileptic syndromes in infancy, childhood and adolescence. Eastleigh: John Libbey; 2002. p. 305–12.

    Google Scholar 

  73. Arzimanoglou A. The surgical treatment of Sturge-Weber syndrome with respect to its clinical spectrum. In: Tuxhorn I, Holthausen H, Boenigk H, editors. Paediatric epilepsy syndromes and their surgical treatment. London: John Libbey; 1997. p. 353–63.

    Google Scholar 

  74. Palmini A, Gambardella A, Andermann F, Dubeau F, da Costa JC, Olivier A, et al. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol. 1995;37(4):476–87.

    Article  CAS  PubMed  Google Scholar 

  75. Fauser S, Schulze-Bonhage A. Epileptogenicity of cortical dysplasia in temporal lobe dual pathology: an electrophysiological study with invasive recordings. Brain. 2006;129:82–95.

    Article  PubMed  Google Scholar 

  76. Vigevano F, Fusco L, Holthausen H. The morphological spectrum and variable clinical picture in children with hemimegalencephaly. In: Tuxhorn I, Holthausen H, Boenigk H, editors. Paediatric epilepsy syndromes and their surgical treatment. London: John Libbey; 1997. p. 377–91.

    Google Scholar 

  77. Di Rocco C, Battaglia D, Pietrini D, Piastra M, Massimi L, Di Rocco C, Battaglia D, Pietrini D, et al. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst. 2006;22(8):852–66.

    Article  PubMed  Google Scholar 

  78. Martin P, Spreer J, Uyanik G. Band heterotopia: Clinic, EEG, functional MRI (fMRI) and genetics. In: Korinthenberg R, editor. Aktuelle Neuropaediatrie. Nuernberg: Novartis Verlag; 2002. p. 469–76.

    Google Scholar 

  79. Sarnat HB. Cerebral dysgenesis, embryology and clinical expression. New York/Oxford: Oxford University Press; 1992.

    Google Scholar 

  80. Yum MS, Lee EH, Kim JH, Ko TS, Yoo HW. Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. Brain Dev. 2013;35(3):245–51.

    Article  PubMed  Google Scholar 

  81. Laan LA, Vein AA. Angelman syndrome: is there a characteristic EEG? Brain Dev. 2005;27:80–7.

    Article  PubMed  Google Scholar 

  82. Valente KD, Freitas A, Fiore LA, Kim CA. A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. Brain Dev. 2003;25(4):283–7.

    Article  PubMed  Google Scholar 

  83. Zankl A, Addor MC, Maeder-Ingvar MM, Schorderet DF. A characteristic EEG pattern in 4p-syndrome: case report and review of the literature. Eur J Pediatr. 2001;160(2):123–7.

    Article  CAS  PubMed  Google Scholar 

  84. Oksanen VE, Arvio MA, Peippo MM, Valanne LK, Sainio KO. Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome. Pediatr Neurol. 2004;30(1):67–70.

    Article  PubMed  Google Scholar 

  85. Glaze D, Schultz RJ, Frost JD. Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol. 1998;106:79–83.

    Article  CAS  PubMed  Google Scholar 

  86. Fallah A, Rodgers SD, Weil AG, Vadera S, Mansouri A, Connolly MB, et al. Resective epilepsy surgery for tuberous sclerosis in children: determining predictors of seizure outcomes in a multicenter retrospective cohort study. Neurosurgery. 2015;77(4):517–24.

    Article  PubMed  Google Scholar 

  87. Kuzniecky RI. Neuroimaging of epilepsy: therapeutic implications. NeuroRx. 2005;2:384–93.

    Article  PubMed  PubMed Central  Google Scholar 

  88. Neuroimaging Comission ILAE. ILAE Neuroimaging commission recommendations for neuroimaging of patients with epilepsy. Epilepsia. 1997;38 Suppl 10:1–2.

    Article  Google Scholar 

  89. Jones BV, Illner A, Hedlund GL. Section 9: Metabolic/degenerative disorders, inherited. In: Osborn AG, editor. Diagnostic imaging brain. Salt Lake City: Amirsys; 2004. p. I-9-4–I-9-73.

    Google Scholar 

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  1. Séguin Clinic for Individuals with Severe Intellectual Disabilities, Epilepsy Centre Kork, Kehl-Kork, Germany

    Peter Martin MD

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  1. NHS Trust, Birmingham Community Healthcare NHS Trust, Birmingham, United Kingdom

    Vee P. Prasher

  2. Institute of Psychological Medicine and Clinical Neuroscience, Cardiff University, Cardiff, United Kingdom

    Mike Kerr

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Martin, P. (2016). Diagnosis of Epilepsy in Persons with Intellectual Disabilities. In: Prasher, V., Kerr, M. (eds) Epilepsy and Intellectual Disabilities. Springer, Cham. https://doi.org/10.1007/978-3-319-39144-1_4

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