Living With Epilepsy And Autism
Some children with epilepsy experience greater socialization and behavior challenges than others. The link between epilepsy and autism can help to explain this, giving children with both conditions better-informed treatment plans.
Epileptic children are able to benefit from a wide range of autism treatment services designed to address the socialization challenges that some may experience.
What Does Epilepsy Look Like
When we think about epilepsy, we often think about someone shaking on the ground in the throes of a seizure. While some people with epilepsy have large seizures like this, plenty of people dont.
The Epilepsy Foundation says hallmarks for seizures in people with autism include:
- Staring. The person might look into the distance for long, uncomfortable moments without blinking. Saying the persons name brings no response.
- Stiffening. The persons entire body goes rigid for a moment or two, and you might notice a lack of blinking or swallowing.
- Shaking or twitching. You could see all the muscles twitch, or you might spot only one or two body parts moving rapidly.
It might be difficult for families to discern the difference between autism-driven behavior and epilepsy behavior. Someone might jiggle a foot or pulse muscles as a self-soothing mechanism. If the person is nonverbal, questions about motivation go unanswered.
Factors That Increase The Chance Of Both Epilepsy And Autism
Factors that may increase a persons likelihood of developing either or both conditions include:
- Level of cognitive ability and development: Research suggests that autistic people and people with epilepsy are more likely than other people to have learning difficulties and developmental delays. In addition, people with active epilepsy and learning difficulties are more likely to be autistic.
- The presence of another neurogenetic disorder or other medical condition: This
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Association Between Asd And Epilepsy
Table 3 provides the results of multivariable logistic regression, showing the association between epilepsy and ASD after adjusting for the potential risk factors decided by univariable logistic regression. Overall, there was strong evidence to suggest that children with epilepsy were at an increased risk of co-occurring ASD . In addition, our data also revealed a statistically significant association between ASD and the following variables: male gender, older age, higher BMI value, gestational factors including depression and nervousness during pregnancy, higher paternal education level, paternal unsociable characteristic, and overindulging in caregiving, while advanced paternal reproductive age, higher maternal education level, and lower household income were confounding factors in our study.
Table 3 The association between ASD and epilepsy using multivariable logistical regression test.
Abnormal Findings But No Seizures
People with ASD have a higher rate of abnormal findings on EEG tests such as “epileptiform discharges” even when they don’t have epilepsy or seizures.3
If a seizure is like a fire, then an epileptiform discharge is like a single spark, which increases the chance of a fire, explained Joshua Ewen, M.D., director of the Clinical Neurophysiology Lab at Kennedy Krieger Institute. But doctors don’t know if these discharges themselves are necessarily causing problems. “They may be a symptom of a problem,” he said.
Like the epilepsy rate, the rate of abnormal EEG findings varies widely, from 4 percent to close to 60 percent, depending on the study. More research could help determine the actual rate of abnormalities and what affect they have, if any, on the expression of that person’s autism, according to a study co-authored by Dr. Spence.3
One controversial question: Should children with certain abnormal EEGs but no seizures be treated with epilepsy medications, which can have negative side effects?
Dr. Spence wants to find out. She is planning a study to determine if treating certain types of EEG abnormalities with anti-seizure drugs “makes a difference in the developmental pattern” of children with ASD. Could medication help these children with behavioral, language and motor problems? “Maybe this is a new treatment we can offer a subset of kids,” she said.
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Management Of Additional Comorbidities In The Presence Of Both Epilepsy And Autism
10.1.1 Attention deficit hyperactivity disorder
ADHD is common in children with autism and in children and adolescent with epilepsy. Diagnosing ADHD in epilepsy sometimes becomes difficult, because some of the children with epilepsy present with features of ADHD. This is due to frequent epileptiform discharge. In those cases, treating these epileptic discharges with AEDs will alleviate these symptoms. Few children with epilepsy may have inattention, hyperactivity and distractibility as a result of antiepileptic medication, as for example, treatment with phenobarbitone, benzodiazepine or vigabatrin . So, review of antiepilepetic medication is very important before diagnosing the child as having ADHD.
Epilepsy is a highly variable condition and after treatment with AED, there might be is no change in seizure or even there is high frequency of seizure and since ADHD medication is started, it may be incorrectly concluded that this increase in seizures is because of the ADHD treatment.
There are two groups of medication currently used to treat ADHD: stimulants and non-stimulants . When children with symptoms of ADHD require medication, current guidelines recommend starting with a trial of a stimulant like methylphenidate. If this first stimulant does not prove to be effective, the alternative stimulant is then used . If stimulants are not effective or cause intolerable adverse effects, then nonstimulants like atomoxetine, alpha-2 agonists, and antidepressants are used.
Data Resource And Description
Epilepsy- and autism-associated genes
We collected 977 genes, including gene clusters, associated with epilepsy from the expert-compiled list from Wang et al. . These genes were manually curated and examined from multiple genetic databases and represent genes are directly related to epilepsy, or indirectly lead to epilepsy through influence on the central nervous system or other systems the subgroups of epilepsy genes are defined in Table . These 977 epilepsy-associated genes were mapped to 999 genes in the multiplex network. The number of genes increased because gene clusters were separated into individual genes. We also collected 913 autism-associated genes from the Simons Foundation Autism Research Initiative Gene , a community-driven knowledgebase of autism spectrum disorder. SFARI Gene has the evidence and the strength of the genetic association for each gene subgroups of autism genes are defined in Table . These 913 autism-associated genes were also mapped to the multiplex network. In total there were 1707 epilepsy- and autism-associated genes.
Whole exome sequence data from other independent studies
Genes associated with other brain disorders
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Epilepsy And Autism: What You Need To Know
Studies show that epilepsy are more common in individuals with autism than the general population. Studies show that in some cases, 20% of people diagnosed with autism also have an epilepsy disorder. Other studies indicate epilepsy prevalence estimates between 5% to 46%.
Autism Spectrum Disorder is a complex neurodevelopmental disorder that impacts social, speech, behavioral and motor skills. It is a spectrum disorder meaning it varies from person to person. No two people have the same symptoms. It is estimated that 1% of the population is diagnosed with autism.
Epilepsy is a brain disorder which occurs when neurons in the brain experience a brief interruption causing a seizure to occur. Seizures vary from mild to severe and affects over 3 million Americans. There are different types of seizures:
- Generalized Tonic/Clonic- A seizures where the whole brain is affected.
- Absence Seizures- Generally start without any warnings. It affects children and last only for a few seconds.
- Myoclonic Seizures- Are abrupt jerks of the muscle groups which originate from the spine.
- Partial Seizures- The person may look as though he or she is in a trance.
Signs for parents to look out for
- May be difficult to determine especially in children diagnosed with severe autism spectrum disorder. Red flags include, staring episodes, stiffening of the body and shaking movements.
- A medical evaluation will include brain imaging and an electroencephalogram .
Reference
Sampling And Sample Size
This retrospective study made use of opportunistic sampling to obtain the required sample size. Opportunistic sampling was used as the prevalence of epilepsy is low , and it would be the best sampling method to reach the required sample size.
For the proposed cross sectional study, using the formula n=Z2P /d2 where n denotes the sample size, Z denotes the statistic corresponding to the level of confidence, P denotes the expected prevalence, and d denotes the level of precision with d=0.05 and prevalence of 0.01, a total of 16 participants with epilepsy would be required.
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Common Symptoms Of Epilepsy In Autism
Epilepsy can occur before or after autism symptoms develop.
Epilepsy causes people to have seizures.
Signs that someone is having a seizure include
- temporary confusion
- uncontrollable jerking movements of the arms and legs
- loss of consciousness or awareness
Most autistic people with epilepsy have their first seizure as a teenager. In people without autism, the risk of epilepsy is greatest in a childs first year.
Diagnosing epilepsy in autistic people is complicated because
- stereotyped movements common to autism can be mistaken for epileptic seizures
- autistic people might have difficulty tolerating tests for epilepsy such as brain scans
What You Can Do About Epilepsy
Most people with epilepsy take anti-epileptic drugs. These drugs control the electrical activity in the brain that causes seizures and often need to be taken for a lifetime. There are many anti-epileptic drugs and your doctor will prescribe one depending on the type of seizures you are experiencing.
Other treatment options include
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Epilepsy And Autism Spectrum Disorder: An Epidemiological Study In Shanghai China
- 1Department of Developmental and Behavioral Pediatrics, Shanghai Childrens Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
- 2MOE-Shanghai Key Laboratory of Childrens Environmental Health, Shanghai Jiao Tong University School of Medicine, Shanghai, China
- 3Shanghai Institute of Pediatric Translational Medicine, Shanghai Childrens Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
- 4Department of Integrative Medicine on Pediatrics, Shanghai Childrens Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Gene Ontology Enrichment Analysis
Gene Ontology is a tool that helps unify understanding of biological functions of genes and proteins in eukaryotes. After modularity detection, the genes within each prescribed module were collectively analyzed using GO for their biological processes, defined as a biological objective to which the genes in the module contribute. The Database for Annotation, Visualization and Integrated Discovery was used to retrieved GO terms and their enrichment using a Fishers exact test. DAVID also reports the FDR for each enrichment.
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Treatment Options For Seizures
Seizures are most commonly treated with anti-epileptic drugs , but non-AED treatments are also available. If a specific genetic or metabolic syndrome is associated with seizures in a child with ASD, there may be a specific treatment for that underlying condition. However, for the most part, AEDs are necessary to control seizureseven in children where an underlying genetic or metabolic disorder has been identified.
Below you will find information about AED, non-AED, and emergency treatment options for seizures.
What Is The Role Of Genetics In Determining Conditions That Underlie Both Epilepsy And Autism
There have been remarkable advances in genetics over recent years. With regard to autism, these advances are epitomized in the title of the paper by Betancur,Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Although not all of these disorders would necessarily have been associated with epilepsy, many of them would have been. Intellectual disability is strongly associated with epilepsy. The lower the intellectual ability, the higher the prevalence of both epilepsy and autism. Much attention has rightly been given to the obvious example of a genetic disorder that can result in both autism and epilepsy, namely, tuberous sclerosis. In this particular case, a new type of treatment, namely, mTOR inhibitors such as sirolimus and everolimus that limit cell growth, can also have an effect in ameliorating seizures, in at least some cases.,
Advances in chromosomal microarray analysis have made detection of small chromosomal variations possible. In the past, clinicians would examine the patient, perhaps with dysmorphic features, intellectual disability, autism and epilepsy, expressing the view that a chromosomal abnormality was highly likely, only to find that chromosomal investigations revealed no such abnormality. The reverse is now true. Chromosomal microanalysis often yields unsuspected abnormalities, the significance of which may be difficult to interpret.
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The Connection Between Autism And Epilepsy
Epilepsy, a neurological disorder that causes seizures, is significantly more common among people with autism than among the general population. In fact, while less than 2% of the general population has epilepsy, studies suggest that up to 30% of people with autism have the disorder. The association between the two disorders has caused researchers to ask the question: Could neurological disturbances actually cause some cases of autism? While the answer isn’t clear, studies have presented some very intriguing findings.
The Epilepsy Connection: Why Are People With Autism At Risk
Seventy years ago, psychiatrist Leo Kanner published a case study of 11 children with a condition he called “autistic disturbance.” One child, a young boy known only as John F., also had convulsions the first reported link of autism and epilepsy.1, 2
In the intervening decades, researchers have studied the autism-epilepsy connection, but many questions remain unanswered or controversial, including how common it is. Medical articles often estimate that a third of people with autism spectrum disorder have epilepsy. However, research studies have reported rates from 5 to 46 percent, and the exact rate is unknown.3
Epilepsy means a person has had more than one seizure that was not triggered by a temporary condition, such as a fever. Seizures vary in types and outward appearance. Someone having a seizure may stare blankly for several seconds, which may be barely noticeable, or his body may shake uncontrollably for a period of minutes.4
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How Should The Individual With Both Epilepsy And Autism Be Managed
As a general principle, both conditions should be managed as they would be when occurring individually, but with certain reservations. This management will include ensuring that the cause of the epilepsy is appropriately investigated.
First, as has already been emphasized, ensure that the autistic features are not the result of ESES or frequent epileptiform discharges.
The diagnosis of epilepsy may be more difficult in someone with autism, especially if there is accompanying intellectual disability. Autism alone or in combination with intellectual disability can prove to be an obstacle in history taking.
There are special cases, for example, tuberous sclerosis, where specific treatment in this case with sirolimus or everolimus may decrease the seizures .
Some antiepileptic drugs can have negative effects on mood, behavior or cognition. For example, levetiracetam is sometimes associated with deterioration in children, whereas lamotrigine tends to be a mood-leveling antiepileptic drug. Topiramate can be associated with word-finding difficulties. For more details, see recent reviews by Aldenkamp et al and Brodie et al.
What Signs Of Seizures Should Autism Parents Look For
According to Tasleema Khan MD, parents who are concerned their child with autism might develop seizures should pay attention to the following warning signs:
- Staring episodes
- Stiffening
- Rhythmic shaking or twitching
- Loss of attention
However, it can be difficult to spot signs of epilepsy in children with autism as some ASD behaviors are similar. For example: repetitive purposeless behaviors, cognitive delay, impaired social interactions, aggression, and irritability.
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Recognizing Symptoms Of Epilepsy In Infants
The highest incidence of epilepsy occurs during the first year of life, when many new parents can overlook or misinterpret physical symptoms. Each year, 150,000 people in the United States will have a newly occurring single seizure, that’s 48 for every 100,000 people according to the Epilepsy Foundation. During early childhood development, infants often exhibit a variety of erratic physical movements and mannerisms which may not cause immediate concern. But babies or children presenting any of these symptoms should be seen by a doctor immediately:
- A prolonged staring spell
Are Specific Epilepsy Syndromes Associated With Autism
The behavioural aspects of pediatric epilepsy syndromes have been reviewed by the current author. Although several epilepsy syndromes are said to be associated with autistic features, in many cases, the diagnosis of autism has not been made according to rigorous criteria and the quality of the data is questionable.
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Age At Onset Of Epilepsy
The mean age at onset of confirmed epilepsy was 13.3 years .The frequency histogram of age at onset of seizures is shown in. This reveals that forthe majority of participants, seizures first began after the age of 10 years.We compared the age at onset of epilepsy in our sample with the age at onsetreported in otherstudies.,In the 1958 child development study, 124 children developed epilepsy and 47 developed seizures for the first time after the age of10. This proportionis significantly lower than the proportion observed in our study Likewise, in a Scottish cohort of 152children with idiopathic mental retardation born between 1951 and 1955 andfollowed to age 22years, 37.5%developed epilepsy after the age of 10 years. Again thisproportion is significantly lower than the proportion observed in our sample.
Age at onset of seizures.
How Researchers Are Exploring The Link
Epilepsy and autism may share similar genetic risk factors. Researchers have identified certain gene mutations that occur in both autism and epilepsy. Studies have found that siblings of children with autism are more likely to have epilepsy.
Some research has found a correlation between epilepsy and regression of mental functioning in children with autism. . Other studies have supported these findings, discovering that for a one standard deviation increase in IQ, the odds of having epilepsy decreased by 47% . The causal relationship between the two conditions has yet to be established. It is complicated by the fact that intellectual disability is a known risk factor for epilepsy.
Sex may also play a role. Studies have found a greater prevalence of epilepsy in autism among females. However, when looking at the total sampling of individuals with epilepsy, males were more likely to have autism than females. More research is needed to identify what role, if any, sex plays in the connection between autism and seizures.
Even in children with autism who do not have observed seizure activity, researchers have identified abnormal Electroencephalogram results. EEGs measure of electrical activity in the brain. One study found that 80% of children with ASD had abnormal EEG . Some researchers postulate that these electrical events in the brain may impact the severity of autism symptoms .
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