Treatment options in autism with epilepsy

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Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication, repetitive behaviors, and restricted interests [1]. ASD is associated with a broad range of concomitant conditions, with epilepsy being one of the most significant and frequent [2,3]. Although ASD and epilepsy exhibit different symptoms and underlying causes [4], there is a strong relationship in their physical and cognitive manifestations [4,5], as confirmed by the fact that up to 30% of individuals with ASD may have epilepsy [6].In a recent meta-analysis, a comprehensive exploration of seventy-three studies delved into the point prevalence of active epilepsy, ultimately distilling 67 estimates from 63 unique studies for inclusion in the meta-analysis [6,7]. The resultant synthesis revealed a pooled point prevalence of active epilepsy standing at 6.38 per 1,000 persons [7]. Shifting focus to the USA, several population-based studies in the pediatric realm uncovered a notably higher incidence of epilepsy within the first year of life, ranging from 82.1 to 118 per 100,000 person-years, eclipsing the rate observed in older children, which hovered around 46 per 100,000 person-years. An additional prospective study mirrored this trend, recording an incidence of 75 per 100,000 live births before 6 months and 62 per 100,000 between 6 and 12 months-an unprecedented revelation that diverges significantly from previously published estimates [8]. Beyond point prevalence, twelve studies contributed insights into the annual prevalence of active epilepsy [9]. The pooled outcome showcased an annual prevalence of 2.83 per 1,000 persons, while the median annual prevalence charted at 3.91 per 1,000 persons [10]. Nestled within this complex tapestry of prevalence, the pediatric population grappling with both ASD and epilepsy emerges as a multifaceted, multidimensional conundrum. This intricate landscape unfolds against a backdrop of diverse symptoms, genetic foundations, and clinical expressions [11]. ASD and epilepsy embark on an evolutionary journey from childhood to adulthood, casting a growing therapeutic demand that resonates not only with patients and their families but reverberates within educational systems and society at large [11,12].Delving into the realm of seizures, their classification unfolds into episodes characterized by either motor or non-motor symptoms-a spectrum encompassing generalized tonicclonic seizures, clonic seizures, tonic seizures, and myoclonic seizures [13][14][15]. Typical absences manifest with a sudden onset, interrupting ongoing activities, featuring a fixed gaze, unresponsiveness to speech, and a duration spanning seconds to half a minute, culminating in a swift recovery [16]. Crucially, it's paramount to underscore that the term "absence" doesn't equate to a fixed gaze, as this characteristic may also manifest in focal onset seizures [17]. In contrast, atypical absence displays more pronounced changes in tone compared to typical absence, marked by a non-abrupt onset or termination.Myoclonic absence introduces a sudden, brief (< 100 ms), involuntary, non-repetitive, and non-sustained contraction with associated absence. Adding another layer to this intricate spectrum, absence with eyelid myoclonia involves eyelid jerks occurring at a frequency of less than 3 per second, often with eyes deviated upward, typically lasting less than 10 seconds. This phenomenon is frequently triggered by eye closure and bears a high likelihood of photosensitivity [18].In 2017, the ILAE Epilepsy Classification unfurled three diagnostic levels [15], enriching our understanding of this intricate landscape. The first level takes root in the seizure type, encompassing an expansive array of concepts-be they focal, generalized, or of unknown onset. This level also introduces two pivotal concepts woven into the diagnostic fabric: comorbidity (associated pathological entities) and etiology. Some patients may find a resting place at this diagnostic level due to investigational limitations, either as a valid endpoint or as the precursor in their diagnostic journey [19]. Stepping into the second diagnostic level, the scene unfolds when at least one EEG and brain imaging study graces the diagnostic landscape. Here, the focus shifts to determining the type of epilepsyfocal, generalized, combined (merging both focal and generalized seizures, a common theme in various epileptic syndromes), or of unknown origin. Etiological diagnoses cast their net into structural, genetic, infectious, metabolic, immune, or unknown categories [20]. In the intricate dance of medical complexities, a patient may wear more than one etiological hat. For instance, a patient with tuberous sclerosis might proudly display cortical tubers, embodying both a structural and genetic etiology [21]. The final frontier, the third diagnostic level, immerses us in the realm of epileptic syndromes-a composite tapestry weaving together common characteristics such as seizure types, specific EEG findings, age-dependent imaging features, onset and remission age, specific triggering factors, daily variations, prognosis nuances, and distinctive intellectual and psychiatric comorbidities. It's a canvas where etiological and treatment implications unfurl their tales [22,23]. This paradigm-shifting classification boldly swaps out the term "benign" for the more apt descriptors "self-limited" or "drug-responsive." The unfolding narrative beckons further exploration and inquiry into the ever-evolving lexicon of epilepsy classification.Regarding ASD, there is significant interindividual clinical variability. Within families, it has been indicated that both genetic and environmental factors influence the phenotypic expression of ASD [12,13]. Many of the core or nuclear symptoms, while reduced to deficits in social communication and interaction and repetitive or stereotyped behaviors, do not manifest their extensive symptomatic expression [10][

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Cano-Villagrasa, A., Cano-Villagrasa, A., Moya-Faz, F. J., Porcar-Gozalbo, N., & López-Zamora, M. (2024). Treatment options in autism with epilepsy. Frontiers in Child and Adolescent Psychiatry. https://doi.org/10.3389/frcha.2024.1265081