Autism with Epilepsy: A Neuropsychopharmacology Update

Abstract

The association between autism spectrum disorders (ASD) and epilepsy has been extensively documented, and the estimated prevalence varies depending upon the selected population and the clinical characteristics. Currently, there are a lack of studies assessing the patient care pathways in ASD, particularly for comorbidity with epilepsy, despite its personal, familial, and economic impacts. Genetic abnormalities are likely implicated in the association of ASD and epilepsy, although they are currently detectable in only a small percentage of patients, and some known genetic and medical conditions are associated with ASD and epilepsy. There is no specificity of seizure type to be expected in children and adolescents with ASD compared with other neurodevelopmental disorders or epileptic syndromes. Treatment options include antiepileptic drugs (AED) and developmentally-based early interventions for ASD. Carbamazepine and lamotrigine are the most used AED, but further studies are needed to more precisely define the most suitable medications for this specific group of children with ASD.

Autism with co-occurring epilepsy care pathway in Europe

“…For example, emergency doctors in the UK may be referring autistic children with a suspected seizure to a paediatrician “with expertise in assessing first seizures and diagnosing epilepsy as recommended by NICE guidelines” but not formal neurology training while doctors in Italy or Spain maybe referring them to a child neurologist following ESCAP recommendations [14, 25]. There may also be clinical reasons explaining these discrepancies such as clinicians not prescribing medication in milder clinical cases while other clinicians prescribe medication after observing epileptiform activity in autistic children’s EEGs.This gap could as well be caused by insufficient availability of publicly funded paediatric epilepsy experts or child neurologists throughout the region.Additionally the lack of evidence on the effectiveness, cost-effectiveness and safety of anti-epilepsy treatment in autism [32] may be an issue here. Use of multiple antiepileptic drugs: NICE guidance on the diagnosis and management of epilepsies recommends that children, young people, and adults with epilepsy should be treated with a single antiepileptic drug (monotherapy) wherever possible; if the initial treatment is unsuccessful, monotherapy using another drug can then be tried [14]. Combination therapy (adjunctive or “add-on” therapy) should only be considered when attempts at monotherapy have not resulted in seizure freedom.…”

“…In our sample, 43% of caregiver respondents in Spain stated that their children were simultaneously prescribed multiple antiepileptic drugs, whereas 100% of respondents in Italy and the United Kingdom said that their autistic children were prescribed a single drug. This lack of consistency between countries may again follow from the lack of harmonized guidance and clinicians having to adhere to current epilepsy guidelines that do not cover the use of antiepileptic drugs in an autistic population [32].…”

“…For example, emergency doctors in the UK may be referring autistic children with a suspected seizure to a paediatrician "with expertise in assessing first seizures and diagnosing epilepsy as recommended by NICE guidelines" but not formal neurology training while doctors in Italy or Spain maybe referring them to a child neurologist following ESCAP recommendations [14,25]. There may also be clinical reasons explaining these discrepancies such as clinicians not prescribing medication in milder clinical cases while other clinicians prescribe medication after observing epileptiform activity in autistic children's EEGs.This gap could as well be caused by insufficient availability of publicly funded paediatric epilepsy experts or child neurologists throughout the region.Additionally the lack of evidence on the effectiveness, cost-effectiveness and safety of antiepilepsy treatment in autism [32] may be an issue here.…”

Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations

“…It should also be noted that most antiseizure medications have not specifically been studied in DS, but have been studied in children generally. There are some psychopharmacological studies of ASD and epilepsy assessing antiseizure medication efficacy as well as impact on behavioral side effects and tolerability, but clinical trials data specifically in individuals with ASD and epilepsy is limited (Canitano et al, 2022). A comprehensive review of epilepsy diagnosis and management is beyond the scope of this chapter.…”

“…Careful coordination and assessment of drug–drug interactions is also needed when using anti‐seizure medications along with other psychopharmacological treatments for behavioral and mental health symptoms. For further reading on epilepsy treatment in neurodevelopmental disabilities, please see Frye et al, 2013; Watkins et al, 2022; Canitano et al, 2022 (Canitano et al, 2022; Frye et al, 2013; Watkins et al, 2022).…”