The Epilepsy – Autism Connection

Under certain conditions, anyone can experience a seizure. However, individuals with neurodevelopmental disabilities and brain disorders are more prone to developing recurrent seizures, or epilepsy. Why?

What is Epilepsy?
Epilepsy is diagnosed when there are recurrent, unprovoked seizure events. Seizures occur when there is a sudden change in the electrical activity of the brain that disrupts normal brain functions. Seizures can take many forms. The more widely recognized types produce observable events, such as “convulsive” shaking, loss of body control, involuntary movements, and/or loss of awareness or consciousness. However, seizures can also be very subtle, for example disrupting a person’s thought patterns or memory but without noticeable external symptoms. There can also be unexpected “subclinical” electrical changes of the brain (particularly “spikes”), detected by electroencephalography (EEG, a device that records the electrical activity of the brain) monitoring, that are neither noticeable to the individual experiencing this phenomenon nor to observers. Unrecognized and untreated, epilepsy carries a risk of injury from seizures, including trauma, drowning, aspiration, and rarely, sudden unexpected death (SUDEP), as well as unfavorably affecting behavior, development, memory or learning. In those individuals with Autism Spectrum Disorder (ASD), having an associated diagnosis of epilepsy can increase the risk of mortality seven-fold.1

Is There an Autism-Epilepsy Connection?
It has been observed for many years that individuals diagnosed with ASD are at high risk of developing epilepsy. Various studies have placed the risk between 6% to 26% of children and adolescents, with a cumulative risk into the adult years reaching as high as 67%.2 Overall, the risk of epilepsy is higher in ASD if there are associated intellectual disabilities or Cerebral Palsy.3 Why is there this connection? Generally, any brain disorder will increase the predisposition and lower the threshold for generating seizures. Additionally, ASD and epilepsies appear to share common biological and anatomical mechanisms. Advances in biotechnologies have revealed that there are many types of genetic variations causing or contributing to both ASD and the generation of seizures. Innovations in neuroimaging tools and neuropathological studies have revealed “disconnectivity” of various brain circuits leading to both autism and epilepsies. Various prenatal, neonatal and childhood metabolic, infectious and inflammatory disorders have been implicated in both ASD and epilepsy. Thus, understanding the epilepsy-autism connection is providing clues to the causes of ASD.

How is Epilepsy Diagnosed in ASD?
The behavioral and developmental complications of ASD can obscure or mimic the clinical manifestations of seizures; thus, the recognition of seizures is not always apparent in this population. Oftentimes children and adults with ASD do not have classical seizure manifestations. An EEG is necessary to determine if there are clinical or subclinical seizures, or abnormal electrical discharges that might be interfering with brain function or present a high risk for recurrent seizures. Language regression can signify a severe form of an “epileptic encephalopathy” (“Landau-Kleffner” and other related syndromes). Such individuals have very abnormal EEGs, with abnormal electrical patterns worsening with sleep but usually without observable clinical events. Infantile seizures associated with fever can sometimes evolve to autism, and, like other epilepsy syndromes, can be associated with genetic defects of “ion transport” (ions include sodium, calcium, potassium, magnesium). Some individuals with ASD and epilepsy will have “drop attacks” (a sudden loss of motor/body control causing a person to drop their head or fall to the ground) and their EEG will have a specific electrical pattern (“Lennox-Gastaut Syndrome”). Other individuals might only have a staring spell, have unwitnessed seizure events during sleep, or may have classic convulsions.

Overall, since epilepsy is a diagnosable condition with important “actionable” clinical implications, clinical evaluations of individuals with ASD should include screening and assessment of seizure risk and susceptibility. In addition to a comprehensive medical and neurological history and examination, there are other neurodiagnostic tests that a specialist may consider or recommend, including:

EEG: This device measures the activity of brain cells (“neurons”) in real-time. Conventional EEG can be difficult to obtain in ASD since the application of the approximately 20 electrodes with glues/pastes/scalp abrasion can be traumatic in those with behavioral challenges. Newer “dense-array” EEG technologies allow for application of many more electrodes (128 sponge electrodes) using a specially designed “sensor net” that is applied in minutes without discomfort or risk of infection.

Neuroimaging: Magnetic Resonance Imaging (MRI) is the study of choice to assess for significant structural abnormalities or malformations of the brain. Other neuroimaging technologies (positron emission tomography [PET], single-photon emission computerized tomography [SPECT], MR Spectroscopy [MRS], diffusion tensor imaging [DTI]) can be useful in select cases.

Laboratory Evaluations: There are wide arrays of relevant laboratory tests of the blood, urine, and on occasion cerebrospinal fluid (CSF) or skin/muscle tissue, which can help identify a biological cause of epilepsy and/or ASD.

Genetics: There has been an explosion of the availability of advanced genetic testing technologies, which are transforming the understanding, diagnosis and treatment of epilepsy and ASD. In many cases, the sequencing of thousands of “genes of interest” can be performed on a saliva sample. Genetic testing can also provide information concerning risk, susceptibility and prevention of complications of epilepsy and ASD, sometimes with implications for other family members.

Neuropsychological Evaluation: Both epilepsy and ASD can have profound effects on neuropsychological function. Neuropsychological evaluations include a series of empirically validated, norm-referenced, and evidence-based tests that quantitatively and qualitatively measure brain function, processing and output.

How is Epilepsy Treated?
Treatment must be individualized and personalized, and include programs to encourage healthy lifestyles (good sleep patterns, nutrition, physical activity, and stress reduction). Therapeutic strategies should target identifiable biological mechanisms and triggers of epilepsy, and simultaneously attempt to relieve seizure burden. Therapies should attend to medical and neurological/neuropsychological complications of epilepsy and/or medications, involve preventative strategies for risk reduction and SUDEP, and provide for a “rescue” plan in cases of acute seizure events. The mainstay for limiting seizure recurrence and promoting spike suppression are antiepileptic drugs (AEDs). In cases of identifiable metabolic and genetic disorders, nutritional supplements or dietary alterations may be indicated. Other options include specific diets such as the ketogenic and related diets (high protein and fat, and minimal carbohydrates), neurostimulation (devices that deliver periodic electrical currents, such as the vagal nerve stimulator [VNS] and other modalities) and “seizure surgery” (the localization and removal of brain tissue identified as the source of seizure generation). Research into the common biological sources of epilepsy and autism may lead to new and novel therapies that propose to alter the course of the disease.

In most cases, epilepsy is a treatable condition. Through proper screening and diagnosis, and the utilization of pragmatic therapies and interventions, the quality of life for children, adolescents and adults who may be suffering from epilepsy and ASD can be improved.

References

Pickett J, Xiu E, Tuchman R, et al. Mortality in Individuals with Autism, with and without Epilepsy. J Child Neurol 2011; 26:932-939.

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; 64:577-582.

McVicar KA, Ballaban-Gil K, Rapin I, et al. Epileptiform EEG abnormalities in children with language regression. Neurology 2005; 65:129-131.

Suren P, Bakken IJ, Aase H, et al. Autism spectrum disorder, ADHD, epilepsy, and cerebral palsy in Norwegian children. Pediatrics 2012; 130:e152-158.

Bolton PF, Carcani-Rathwell I, Hutton J, et al. Epilepsy in autism: features and correlates. Br J Psychiatry 2011; 198:289-294.

Viscidi EW, Triche EW, Pescosolido MF, et al. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. PLoS One 2013; 8(7):e67797.

Woolfenden S, Sarkozy V, Ridley G, et al. A systematic review of two outcomes in autism spectrum disorder – epilepsy and mortality. Dev Med Child Neurol 2012; 54:306-312.

By Mark Mintz

Your Child’s Right to Positive Behavior Interventions

Hearing that your child has an Autism Spectrum Disorder (ASD) diagnosis can cause feelings of sadness, disbelief and uncertainty.  Many parents do not know where to turn next in regards to services.  The educational process can be overwhelming.  It is crucial that parents become a knowledgable advocate for their child.  Knowing your child’s educational rights is key to their academic success.  As part of the child study team process, parents will need an understanding of the laws and positive behavior interventions that will enhance their child’s educational experience. The following article was written by us to help empower parents with the needed knowledge to ensure their child’s success:

Autism Spectrum Disorders (ASDs) are complex neurobiological disorders of early brain development. The deficits associated with ASDs may affect many aspects of individuals’ lives, including socialization, communication, activities of daily living, and regulating behavior. Cognitive and communicative abilities among individuals with ASDs may range significantly. In order to create optimal social and academic environments for individuals with an ASD diagnosis we must understand the needs of each child and implement treatment based on empirically based interventions.Laura H with boy

Academic services and procedures required under the Individuals with Disabilities Education Act (IDEA) are designed to ensure that (1) challenging behaviors are addressed through positive behavioral interventions, (2) children are not improperly disciplined for conduct related to their disabilities, and (3) children with disabilities receive free and appropriate public education (FAPE) even if properly excluded from school for disciplinary reasons. Children with disabilities in preschool may never be suspended or expelled from school.

Whenever the behavior of a child with a disability interferes with the learning of that child or others, the child’s Individualized Education Plan (IEP) team must consider for inclusion in the child’s IEP “positive behavioral interventions and supports” and “other strategies” (which are often described in a “behavioral intervention plan”) to address that behavior. A child with a disability must be re-evaluated whenever the child’s functional performance, including behavior, warrants a reevaluation. Such evaluations should assist the IEP team in determining what services or accommodations are necessary to enable the child to be educated with his or her non-disabled peers, and, where appropriate, must include a “functional behavioral assessment.” In addition to positive strategies and interventions, the IEP should include any modifications to the Code of Student Conduct, which are necessary for the student.

The functional behavior assessment (FBA) can be conducted to assist educators in understanding the child’s academic and social needs. The purpose of the FBA is to identify the functions of an individual’s challenging behavior in order to develop positive behavioral interventions and supports to address aberrant behavior. The topography of the behavior must be clearly defined. Once the targeted behaviors are defined, a hypothesis of the function of those behaviors must be developed.

“The FBA is generally conducted in a collaborative fashion, bringing together input from the child and a variety of individuals who work and interact with the child. It uses a child-centered approach based on the understanding that behavior serves a particular function for each child and that effective interventions must be tailored to address the function played by the behavior within the context in which the individual child lives and learns and in light of the child’s unique strengths and needs. An FBA should be conducted by a professional who can demonstrate (e.g., through a specialized degree or credential) experience, knowledge and skill in positive behavior support, which include training in applied behavior analysis” (Education Law Center, 2008).

“Once the FBA is complete, the IEP team will develop a “behavioral intervention plan” (BIP) for the child, which will include positive strategies to address the behavior. The BIP can include a variety of program accommodations, modifications, supports, and services to improve the child’s behavior. The BIP should be designed to accomplish four outcomes: (a) improve environmental conditions to prevent problem behaviors; (b) teach the student new skills to enable the student to achieve the same function in a socially appropriate manner; (c) reinforce desired behaviors, including newly-taught replacement skills; and (d) use strategies to defuse problem behavior effectively and in ways that preserves the student’s dignity” (Education Law Center, 2008).

Applied Behavior Analysis (ABA) is an evidenced-based treatment for improving the functioning of children diagnosed with autism. It addresses the core deficits of ASDs including verbal and non-verbal communication, social interaction, restrictive repetitive behaviors, inflexibility, daily living skills, and peer relationships to name a few. ABA has been successfully used for over 30 years. Today, the techniques and strategies of ABA have created a new look for behavioral interventions and the treatment of autism in homes, schools, and community settings.

Today, Applied Behavior Analysis (ABA) is supported by research as being effective in increasing social competencies of individuals diagnosed with Autism and behavioral challenges. ABA can modify behavior through the processes of assessment, intervention, data collection, and responsive programming.

ABA is characterized by more naturalistic techniques whose emphasis is making meaningful changes in the lives of individuals. More recently, there has been a trend to move away from using highly structured and rigid environments towards natural settings (home, school, community). ABA interventions are designed to not only change the behavior of the targeted individual, but also changes the behaviors of those in direct contact with the individual (parents, educators, peers). Naturalistic methods of ABA that incorporate other individuals include modeling, incidental teaching (IT), and pivotal response training (PRT).

Modeling is a valuable technique if an individual is capable of imitation. It can be useful in the initial phases of instruction when a skill is just being acquired. A significant amount of literature exists supporting the role of peer models and their ability to bring about socially appropriate behaviors in children with autism.

Incidental teaching (IT) methods can be used in the natural environment to help a child expand their verbal repertoire. Initiations put forth by the child are met with response that typically requires an additional interaction, prior to being reinforced with the desired item.

Pivotal response training (PRT) is characterized by a set of instructional strategies that are brief, specific, and focus on activities chosen by child. The method also utilizes contingent reinforcement directly related to the desired behavior, and attempts at the desired behavior. PRT has recently been shown to cause significant improvement in the communication and interactions of toddlers.

Innovative uses of technology are a “new look” in the treatment of autism. One such device Technology Assisted Classroom Teaching (TACT) and Technology, Observation, and Parent Support (TOPS), developed by the Center for Neurological and Neurodevelopmental Health (CNNH), located in Gibbsboro, NJ, is a remote behavior capture system. The system allows access to professional support and expertise. This technology utilizes a small camera and computer to efficiently record target behavior, antecedents, and consequences. Behavior and teaching can be viewed in real time over Health Insurance Portability and Accountability Act (HIPAA) compliant Internet portals. Behavior can also be captured and reviewed at a late date by a Board Certified Behavior Analyst (BCBA) or other clinicians if needed.

The technology approach reduces reactance effects and distractions of an extra observer in the physical environment. It is cost effective, as there are no travel expenses, or expenses of a consultant traveling to the setting when the target behavior may not occur. TACT/TOPS also allow for regular data collection and feedback to foster education, progress, and success.

Techniques such as direct observation, antecedent-based strategies (what to do before the behavior occurs), modeling, shaping, use of peers, positive behavior supports (visuals, incentive systems), and functional communication interventions foster natural, practical learning across settings. Emphasis is placed on utilizing the individual’s preferences and activity choices. Focus on adaptive and functional skills aide methods in generalizing across environments and individuals.