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Children with epilepsy are at increased risk of cognitive and behavioral problems and should be offered early intervention to promote optimal outcomes. Eom et al.[1] provide an important addition to understanding early diagnosis by utilizing a novel approach that used multiple instruments to screen for autistic spectrum disorder (ASD), developmental delay, and behavioral/emotional difficulties in 236 children. They report a surprisingly high percentage of positive screens, from 15% on the Social Communication Questionnaire (SCQ) to 54% on the Modified Checklist for Autism in Toddlers (mCHAT), 58% on the Strengths and Difficulties Questionnaire (SDQ), and 82% on the Ages and Stages Questionnaire. After further review, approximately 20% of children with positive screens were referred for additional evaluation. Fifteen participants with a positive screen for autism (7.2%) had a clinical diagnosis of ASD. A positive screen for comorbid symptoms was found more often in established epilepsy versus new-onset epilepsy patients; males versus females; and certain types of epilepsy syndromes.

This study provides support for the use of screening tools as a routine part of initial assessment in a comprehensive epilepsy clinic, but it raises several issues. First, are these the best screening instruments to use in a busy epilepsy clinic? Practically, these instruments are inexpensive, can be completed relatively quickly by parents, and are easily scored. mCHAT and SDQ are available in multiple languages. However, the high percentage of positive screens in this study points to a broader issue regarding the utility of screening measures.[2] Screening instruments are designed to reduce the rate of false negatives but thus have a high degree of Type I (i.e., false positive) errors. In this study, the mCHAT has such a high rate of false positives (only three of 37 children who screened positive were found to have autism) that one could conclude it is not an appropriate screening tool for populations with cognitive and neurological problems. The association between ASD and epilepsy is seen predominantly in children with intellectual disability and epilepsy.[3] For this reason, it may be more efficient to screen first for cognitive delay and reserve ASD screening using the SCQ for those children with intellectual disability.

A second problem posed by the high rate of positive screens will be convincing providers to incorporate screening for behavioral and cognitive problems into practice. Physicians have worried about the additional time required to obtain and review results, the limited training in handling identified difficulties, and the lack of community resources available to care for children with major behavioral problems. Screening is not meant to inform diagnosis; rather, the brief assessment reported by Eom et al. is meant to ensure that high-risk or symptomatic children receive consistent surveillance, identification, and subsequent referral for a more thorough evaluation by specialists. Prior to beginning any screening, mechanisms should be in place to access additional evaluation after positive screening and services for children with identified cognitive and behavioral difficulties.

The high rate of positive screens also raises another possible option. There may be certain sets of children with epilepsy for whom screening is a waste of time and a step that can be skipped. Cognitive and behavioral problems in children with infantile spasms or the epileptic encephalopathies occur so frequently that all children with these more severe epilepsies merit comprehensive psychoeducational assessment.

Regardless, this article shows that children with epilepsy are at an increased risk of developmental delay, ASD, and other mental health conditions. Screening for these disorders appears to be warranted and much needed. Future steps in studying ASD in epilepsy may include testing and refining available autism screening instruments for use in epilepsy populations, particularly in children with other neurodevelopmental disorders. Furthermore, investigating the longitudinal application of such measures to determine their utility and stability over time would be further assisted if first administered in very young children in the initial phase of their illness. Repeated measures during the active phase of epilepsy may be critical to understanding how epileptic activity impacts on (or is associated with) development and behavior. Early identification of ASD and cognitive delays in children with epilepsy could lead to investigations into the genetic and environmental risk factors determining the relationship between ASD and epilepsy[4] and could have a significant impact on outcomes for patients and their families.

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