4,141
Views
2
CrossRef citations to date
0
Altmetric
Review

A review of the pharmacotherapeutic considerations for managing epilepsy in people with autism

, & ORCID Icon
Pages 841-851 | Received 04 Sep 2021, Accepted 16 Mar 2022, Published online: 28 Mar 2022

References

  • Reilly C, Atkinson P, Das KB, et al. Features of autism spectrum disorder (ASD) in childhood epilepsy: a population-based study. Epilepsy Behav. 2015;42:86–92.
  • Shankar R, Perera B, Thomas RH. Epilepsy, an orphan disorder within the neurodevelopmental family. J Neurol Neurosurg. 2020;91(12):1245–1247.
  • Fisher RS, Boas WVE, Blume W, et al. Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia. 2005;46(4):470–472.
  • Fisher RS, Acevedo C, Arzimanoglou A, et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia. 2014;55(4):475–482.
  • Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy: position Paper of the ILAE Commission for classification and terminology. Epilepsia. 2017;58(4):522–530.
  • American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington VA: American Psychiatric Association; 2013. p. DSM–5.
  • Fiest KM, Sauro KM, Wiebe S, et al. Prevalence and incidence of epilepsy: a systematic review and meta-analysis of international studies. Neurology. 2017;88(3):296–303.
  • Maenner MJ, Shaw KA, Baio J, et al. Prevalence of autism spectrum disorder among children aged 8 Years — autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveill Sum. 2020;69(No. SS–4):1–12.
  • Lukmanji S, Manji SA, Kadhim S, et al. The co-occurrence of epilepsy and autism: a systematic review. Epilepsy Behav. 2019;98:238–248.
  • Saemundsen E, Ludvigsson P, Rafnsson V. Risk of autism spectrum disorders after infantile spasms: a population‐based study nested in a cohort with seizures in the first year of life. Epilepsia. 2008;49(11):1865–1870.
  • Strasser L, Downes M, Kung J, et al. Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta‐analysis. Dev Med Child Neurol. 2018;60(1):19–29.
  • Amiet C, Gourfinkel-An I, Bouzamondo A, et al. Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry. 2008;64(7):577–582.
  • Hara H. Autism and epilepsy: a retrospective follow-up study. Brain Dev. 2007;29(8):486–490.
  • Volkmar FR, Nelson DS. Seizure disorders in autism. J Am Acad Child Adolesc Psychiatry. 1990;29(1):127–129.
  • Precenzano F, Parisi L, Lanzara V, et al. Electroencephalographic abnormalities in autism spectrum disorder: characteristics and therapeutic implications. Medicina (B Aires). 2020;56(9):419.
  • Chez MG, Chang M, Krasne V, et al. Frequency of epileptiform EEG abnormalities in a sequential screening of autistic patients with no known clinical epilepsy from 1996 to 2005. Epilepsy Behav. 2006;8(1):267–271.
  • Chow J, Jensen M, Amini H, et al. Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. Genome Med. 2019;11(1):1–14.
  • Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia. 2011;52:24–29.
  • Lee BH, Smith T, Paciorkowski AR. Autism spectrum disorder and epilepsy: disorders with a shared biology. Epilepsy Behav. 2015;47:191–201.
  • Long S, Zhou H, Li S, et al. The clinical and genetic features of co-occurring epilepsy and autism spectrum disorder in Chinese children. Front Neurol. 2019;10:505.
  • Peng J, Zhou Y, Wang K. Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism. Sci Rep. 2021;11(1):1–16.
  • Bozzi Y, Provenzano G, Casarosa S. Neurobiological bases of autism–epilepsy comorbidity: a focus on excitation/inhibition imbalance. Eur J Neurosci. 2018;47(6):534–548.
  • Tuchman R, Cuccaro M. Epilepsy and autism: neurodevelopmental perspective. Curr Neurol Neurosci Rep. 2011;11(4):428–434.
  • Pan PY, Bölte S, Kaur P, et al. Neurological disorders in autism: a systematic review and meta-analysis. Autism. 2021;25(3):812–830.
  • Rydzewska E, Hughes-mccormack LA, Gillberg C, et al. Prevalence of long-term health conditions in adults with autism: observational study of a whole country population. BMJ open. 2018 Aug 1;8(8):e023945.
  • Croen LA, Zerbo O, Qian Y, et al. The health status of adults on the autism spectrum. Autism. 2015 Oct;19(7):814–823.
  • Chapman M, Iddon P, Atkinson K, et al. The misdiagnosis of epilepsy in people with intellectual disabilities: a systematic review. Seizure. 2011;20(2):101–106.
  • Uldall P, Alving J, Hansen LK, et al. The misdiagnosis of epilepsy in children admitted to a tertiary epilepsy centre with paroxysmal events. Arch Dis Child. 2006;91(3):219–221.
  • Donat JF, Wright FS. Episodic symptoms mistaken for seizures in the neurologically impaired child. Neurology. 1990;40(1):156.
  • National Institute for clinical Excellence (CG 137), 2012. The Epilepsies: the diagnosis and management of the epilepsies in adults and children in primary and secondary care. [cited 2021 Aug 20]. Available Online: http//:www.nice.org.uk/cg137.
  • Kerr MP, Watkins LV, Angus-Leppan H, et al. R2018. The provision of care to adults with an intellectual disability in the UK. A special report from the intellectual disability UK chapter ILAE. Seizure. 2018;56:41–46.
  • Frye RE, Rossignol D, Casanova MF, et al. A review of traditional and novel treatments for seizures in autism spectrum disorder: findings from a systematic review and expert panel. Front Public Health. 2013;1:31.
  • Peake D, Notghi LM, Philip S. Management of epilepsy in children with autism. Current Paediatrics. 2006;16(7):489–494.
  • Glauser T, Ben‐Menachem E, Bourgeois B, et al., ILAE Subcommission on AED Guidelines. Updated ILAE evidence review of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes. Epilepsia. 2013;54(3):551–563.
  • Nevitt SJ, Sudell M, Weston J, et al. Antiepileptic drug monotherapy for epilepsy: a network meta-analysis of individual participant data. Cochrane Database Syst Rev. 2017 Jun 29;66: CD011412 https://doi.org/10.1002/14651858.CD011412.pub2.
  • Darnell JC, Richter JD. Cytoplasmic RNA-binding proteins and the control of complex brain function.Cold spring. Harb Perspect Biol. 2012;4:a012344.
  • Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002;44(11):724–728.
  • McCary LM, Roberts JE. Early identification of autism in fragile X syn-drome: a review. J Intellect Disabil Res. 2013;57(9):803–814.
  • Seltzer LE, Ma M, Ahmed S, et al. Epilepsy and outcome in FOXG1‐related disorders. Epilepsia. 2014;55(8):1292–1300.
  • Kortüm F, Das S, Flindt M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun;48(6):396–406.
  • Ip JP, Mellios N, Sur M. Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci. 2018;19(6):368–382.
  • Operto FF, Mazza R, Pastorino GMG, et al. Epilepsy and genetic in Rett syndrome: a review. Brain Behav. 2019;9(5):e01250.
  • Percy AK. Rett syndrome: exploring the autism link. Arch Neurol. 2011;68(8):985–989.
  • Wolff M, Johannesen KM, Hedrich U, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140(5):1316–1336.
  • Bassani S, Cwetsch AW, Gerosa L, et al. The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons. Hum Mol Genet. 2018;27(6):1027–1038.
  • Compagno Strandberg M, Söderberg‐Löfdal K, Kimland E, et al. Evidence‐based anti‐seizure monotherapy in newly diagnosed epilepsy: a new approach. Acta Neurol Scand. 2020;142(4):323–332.
  • McTague A, Cross JH. Treatment of epileptic encephalopathies. CNS Drugs. 2013;27(3):175–184.
  • Vigevano F, Arzimanoglou A, Plouin P, et al. Therapeutic approach to epileptic encephalopathies. Epilepsia. 2013;54:45–50.
  • Myers KA, Scheffer IE. Precision medicine approaches for Infantile-Onset developmental and epileptic encephalopathies. Annu Rev Pharmacol Toxicol. 2021;62(1):641–662.
  • Tomson T, Battino D, Bonizzoni E, et al. Dose-dependent teratogenicity of valproate in mono-and polytherapy: an observational study. Neurology. 2015;85(10):866–872.
  • Belsito KM, Law PA, Kirk KS, et al. Lamotrigine therapy for autistic disorder: a randomized, double-blind, placebo-controlled trial. J Autism Dev Disord. 2001;31(2):175–181.
  • Devinsky O, Verducci C, Thiele EA, et al. Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and doose syndromes. Epilepsy Behav. 2018;86:131–137.
  • Saneto R, Sparagana S, Kwan P, et al. Efficacy of Add-on Cannabidiol (CBD) Treatment in Patients with Tuberous Sclerosis Complex (TSC) and a History of Infantile Spasms (IS): post Hoc Analysis of Phase 3 Trial GWPCARE6 (1534). Neurology Apr. 2021;96(15 Supplement):1534.
  • Patel AD, Mazurkiewicz-Bełdzińska M, Chin RF, et al. Long-term safety and efficacy of add-on cannabidiol in patients with Lennox–Gastaut syndrome: results of a long-term open-label extension trial. Epilepsia;. 2021;62(9):2228–2239.
  • Scheffer IE, Halford JJ, Miller I, et al. Add-on cannabidiol in patients with Dravet syndrome: results of a long-term open-label extension trial. Epilepsia. 2021;00:1–13.
  • Fletcher S, Pawliuk C, Ip A, et al. Medicinal cannabis in children and adolescents with autism spectrum disorder: a scoping review. Child Care Health Dev. 2021;1–12. https://doi.org/10.1111/cch.12909
  • Upadhya D, Castro OW, Upadhya R, et al. Prospects of cannabidiol for easing status Epilepticus-Induced epileptogenesis and related comorbidities. Mol Neurobiol. 2018 Aug;55(8):6956–6964.
  • Kanemura H, Sano F, Hoshino H, et al. Efficacy of perampanel in epilepsy patients with autism spectrum disorder. Epilepsy Res. 2021;170:106550.
  • Shankar R, Henley W, Wehner T, et al. Perampanel in the general population and in people with intellectual disability: differing responses. Seizure. 2017 Jul;49:30–35.
  • Allard J, Henley W, Snoeijen-Schouwenaars F, et al. European perspective of perampanel response in people with intellectual disability. Acta Neurol Scand. 2020 Sep;142(3):255–259.
  • Wehner T, Mannan S, Turaga S, et al. Retention of perampanel in adults with pharmacoresistant epilepsy at a single tertiary care center. Epilepsy Behav. 2017 Aug;73:106–110.
  • Watkins L, O’Dwyer M, Kerr M, et al. Quality improvement in the management of people with epilepsy and intellectual disability: the development of clinical guidance. Expert Opin Pharmacother. 2020;21(2):173–181.
  • Robertson J, Chadwick D, Baines S, et al. Prevalence of dysphagia in people with intellectual disability: a systematic review. Intellect Dev Disabil. 2017;55(6):377–391.
  • Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14(7):733–745.
  • Inoki K, Corradetti MN, Guan KL. Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet. 2005;37(1):19–24.
  • French JA, Lawson JA, Yapici Z, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016;388(10056):2153–2163.
  • Sabitha KR, Shetty AK, Upadhya D. Patient-derived iPSC modeling of rare neurodevelopmental disorders: molecular pathophysiology and prospective therapies. Neurosci Biobehav Rev. 2021 Feb;121:201–219.
  • Sanders SJ, Murtha MT, Gupta AR, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485(7397):237–241.
  • Wolff M, Brunklaus A, Zuberi SM. Phenotypic spectrum and genetics of SCN 2A -related disorders, treatment options, and outcomes in epilepsy and beyond. Epilepsia. 2019;60(S3):S59–S67.
  • Samanta D. PCDH19-related epilepsy syndrome: a comprehensive clinical review. Pediatr Neurol. 2020;105:3–9.
  • Jakimiec M, Paprocka J, Śmigiel R. CDKL5 deficiency disorder—A complex epileptic encephalopathy. Brain Sci. 2020;10(2):107.
  • Scheffer IE, Nabbout R. SCN1A‐related phenotypes: epilepsy and beyond. Epilepsia. 2019;60(S3):S17–S24.
  • Royal college of psychiatrists management of epilepsy in adults with intellectual disability 2017. [cited 2021 Sep 04]. Available from https://www.rcpsych.ac.uk/improving-care/campaigning-for-better-mental-health-policy/college-reports/2017-college-reports/prescribing-anti-epileptic-drugs-for-people-with-epilepsy-and-intellectual-disability-cr206-oct-2017
  • Royal college of psychiatrists management of epilepsy in adults with intellectual disability 2017. [cited 2021 Sep 04]. http://www.rcpsych.ac.uk/usefulresources/publications/collegereports/cr/cr203.aspx
  • Watkins L, Shankar R. Reducing the Risk of Sudden Unexpected Death in Epilepsy (SUDEP). Curr Treat Options Neurol. 2018 Aug 22;20(10):40. PMID: 30136125
  • Watkins L, Shankar R, Sander JW. Identifying and mitigating Sudden Unexpected Death in Epilepsy (SUDEP) risk factors. Expert Rev Neurother. 2018;18(4):265–274.
  • Shankar R, Ashby S, McLean B, et al. Bridging the gap of risk communication and management using the SUDEP and Seizure Safety Checklist. Epilepsy Behav. 2020 Feb;103(Pt B):106419.
  • The national Step Together Report. [cited 2021 Sep 04]. Available from: https://www.bild.org.uk/wp-content/uploads/2020/11/Step-Together-17-November-2020-Download-Link-.pdf
  • Watkins LV, Pickrell WO, Kerr MP. Treatment of psychiatric comorbidities in patients with epilepsy and intellectual disabilities: is there a role for the neurologist? Epilepsy Behav. 2019;98:322–327.
  • Kerr MP, Mensah S, Besag F, et al. International consensus clinical practice statements for the treatment of neuropsychiatric conditions associated with epilepsy. Epilepsia. 2011;52(11):2133–2138.
  • Challenging behaviour and learning disabilities: prevention and interventions for people with learning disabilities whose behaviour challenges, 2015. Nice Guideline (NG11). National Institute for Health and Care Excellence.