Children with autism have higher rates of epilepsy than in the general population and children with epilepsy are at high risk of developing autism.1,2 When epilepsy and autism coexist, the quality of life in these individuals is severely impacted.3 Recognizing and diagnosing autism in children with epilepsy and understanding the treatment options is important for the comprehensive management of children with epilepsy. This chapter will focus on how to go about making the diagnosis of autism in children with epilepsy and on the treatment approach to children with epilepsy and autism.
Autism-like epilepsy is a heterogeneous developmental disorder associated with many diverse etiologies and pathologies (FIG. 43–1). The labels of autism spectrum disorders (ASD) or pervasive developmental disorders (PDD) are commonly used to describe individuals who have varying deficits in verbal and nonverbal communication, social skills, and a restricted repertoire of interests or repetitive behaviors (Table 43–1). Throughout this chapter, the term autism will be used to discuss this heterogeneous group of children.
| Behavioral Domain | More Likely in Lower Functioning Child with Autism | More Likely in Higher Functioning Child with Autism |
|---|---|---|
| Social | Gaze avoidance Failure to respond when called Failure to participate within groups Lack of awareness of others indifference to affection | Inappropriate affection Lack of social or emotional empathy Impaired ability to make peer friendships Poverty of social skills Tend to be loners |
| Language | Failure to develop both expressive and receptive language skills Language is immature and characterized by echolalia, pronoun reversals, unintelligible jargon | Abnormal melody Sing-song prosody Monotonous tone Inability to initiate or sustain an appropriate conversation |
| Repetitive behaviors | Resistance to change Insistence on certain routines Attachments to objects Fascination with parts and movement of objects Lining up or manipulating the toys Flapping, humming, rocking, running around in circles | Lack of symbolic play Repetition of certain words, phrases, or songs Focus on narrow topics such as train schedules, maps, or historical facts |
The DSM-IV and ICD-10 systems provide a framework for the clinical diagnosis of autism and evidence-based guidelines have been established for the diagnosis of autism and related disorders.4 From a research perspective the “gold-standard” for the diagnosis of autism are the Autism Diagnostic Observation System and the Autism Diagnostic Interview, which together provide both a structured detailed interview and an observation method to assess an individual’s social ability, communication skills, and behavior objectively. A list of resources and references regarding the diagnosis and treatment for autism is available in Box 43–1.
BOX 43–1. RESOURCES AND REFERENCES FOR DIAGNOSIS AND TREATMENT OF AUTISM
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. Washington, DC: American Psychiatric Association, 1994; 4th edn.
World Health Organisation. International Classification of Diseases and Health Related Problems. Geneva: World Health Organisation, 1992; 10th edn.
Rapin I. Autism. NEJM 1997;337(2):97–104.
Lord C, et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30(3):205–223.
Ozonoff S, Goodlin-Jones BL, Solomon M. Evidence-based assessment of autism spectrum disorders in children and adolescents. J Clin Child Adolesc Psychol 2005;34(3):523–540.
Bryson SE, Rogers SJ, Fombonne E. Autism spectrum disorders: early detection, intervention, education, and psychopharmacological management. Can J Psychiatry 2003;48(8):506–516.
Centers for Disease Control. http://www.cdc.gov/ncbddd/dd/ddautism.htm.
American Academy Practice Guidelines for Autism. http://www.aan.com/professionals/practice/guidelines/guideline_summaries/Autism_Guideline_for_Clinicians.pdf.
National Autistic Society. http://www.nas.org.uk/.
National Institute of Health. http://health.nih.gov.easyaccess2.lib.cuhk.edu.hk/result.asp/62.
National Research Council Educating Children with Autism. www.gao.gov/new.items/d05220.pdf.
Tuchman R, Rapin I (eds.). Autism: A Neurological Disorder of Early Brain Development. London: MacKeith Press, 2006.
The core clinical features that define autism and related disorders and differentiate it from other developmental disorders are a disturbance of social interaction, which may not be absolute. Social cognition is a complex concept and social behaviors will differ depending on the cognitive level and associated disabilities of a child. The defining features of the social cognitive deficits in children with autism include joint attention (defined as the behaviors used to share the experience of objects or events with others), disturbances in affect, impairments in imitation, impairments in the capacity for pretend play with objects or people and in the ability of individuals with autism to attribute beliefs to themselves and others (theory of mind).5 How often social cognitive deficits exist in children with epilepsy is not known, but in adults with epilepsy mesial temporal epilepsy is associated with deficits in higher-order social cognition.6
In children with autism, reports of epilepsy range from 5% to 38.3%.7 The large variations in reported rates of epilepsy in children with autism are dependent on the clinical characteristics of the subgroup of children with autism that is being studied. The common risk factors for both autism and epilepsy are genetics, mental retardation, and language regression.
There are several gene disorders associated with both autism and epilepsy, for example, a susceptibility locus for autism has been found on chromosome 2 in the vicinity of the genes SCN1A and SCN2A, which are also susceptibility genes for seizures.8 In some children who have epilepsy, mental retardation, and hypotonia in association with the autism phenotype cytogenetic abnormalities in chromosome 15 has been reported.9 There is a recent description of a group of Amish children who develop intractable focal seizures in childhood with behaviors consistent with the autism phenotype in addition to having language regression and mental retardation. In this group of children, a homozygous mutation of contactin-associated protein-like 2 (CNTNAP2) has been found.10
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