This assignment was a Literature Review. I chose the topic of “misdiagnosis of epilepsy” after I was it mentioned in a pediatric journal. In this assignment I reviewed 4 different articles to explore the main factors which led to the common misdiagnosis of epilepsy. Once I found the main components listed, in nearly all of the articles, I chose those factors as the subheadings for the Analysis portion of the paper. Analysis of those factors allowed for an inference to what the solution to the problem of misdiagnosing epilepsy, which was the basis of the conclusion.
Factors Resulting in the Misdiagnosis of Epilepsy: A Literature Review
ABSTRACT
The condition of epilepsy is one that has many different symptoms and is commonly misdiagnosed. Epilepsy misdiagnosis can be seen through labeling a non-epileptic condition as epilepsy or an epileptic condition being labeled as being non-epileptic. The major factors leading to misdiagnosis are 1) confusion between epileptic symptoms and non-epileptic episodes, 2) misinterpretation of the results from different clinical tests such as EEGs and MRIs, and 3) the lack of referral to epileptic centers based on the certainty of doctors in their initial diagnoses. The misdiagnosis of epilepsy has a major implication for the treatment which patients receive- in which they might be getting inappropriate treatment for a condition they do not possess. A possible solution to lessen the extent to which epilepsy is misdiagnosed can be to always refer epileptic-like cases to a center which specializes in epilepsy, so that a diagnosis is more accurate.
INTRODUCTION
Epilepsy is a serious condition which has different symptoms, among which seizure is the most common. The disturbance in brain activity that is caused by the symptoms of epilepsy can be harmful to the body and brain. Therefore, once an epileptic diagnosis is made, actions for treatment should be taken right away. Treatment for epilepsy can be different anti-epilepsy medication. While epilepsy is a very serious condition, there are accounts of common misdiagnosis of epilepsy. Misdiagnosis of epilepsy can be seen in two forms: one is diagnosing a condition as epilepsy, when it is not, or diagnosing another condition when it is epilepsy. In this literature review, a different number of studies will be analyzed and compared to target which factors contribute to the common misdiagnosis of epilepsy. The aim is to pinpoint those factors and identify a possible solution so that the rate of misdiagnosis can be reduced. This topic is of great importance because a misdiagnosis of epilepsy can have many undiscovered implications for the patient receiving the wrong diagnosis. When thinking of the importance of treatment for epilepsy, a possible implication of misdiagnosis is that a person will not receive the proper treatment for the treatment they possess- whether it be epilepsy or another condition. Additionally, a person can be treated for an illness they do not have and experience unknown side effects. With the analysis of the main factors leading to the misdiagnosis of epilepsy, the implications can be known, and a possible solution can be established.
ANALYSIS
Common Non-Epileptic Events and Symptoms Confused with Epilepsy
There are many different diagnosis possibilities that can be assigned to symptoms common to epilepsy, among which some were syncope, migraines, daydreaming, night terrors, psychological episodic spells, tics, staring, dystonia, and disturbances during sleep (Hindley et al 2006; Uldall et al 2006). Syncope is the most common non-epileptic event that is mistaken with epilepsy (Hindley et al 2006; Fattouch et al 2007). Two of the most notable differences between epileptic events and non-epileptic events were that non-epileptic events were situational, meaning that they were triggered by a specific event or activity, and that non-epileptic episodes could be interrupted (Hindley et al 2006).This shows that even if symptoms seem to be the same for epileptic and non-epileptic episodes, there are other factors that could come into play which could aid in differentiating the two. Fattouch (2007) supported this idea with the use of a questionnaire and scoring system that differentiated between epileptic seizures and syncope. The questionnaire asked different questions and each question had a specific scoring where it added points or subtracted points. Some of the questions were if there was unresponsiveness during the spell, if there was sweating before the spell, and if the spell was associated with prolonged sitting or standing. The question regarding unresponsiveness during a spell gets a point, going towards the characteristics of an epileptic seizure, and sweating before a spell or the spell being caused by prolonged sitting or standing loses two points, going away from epileptic seizure and moving towards a syncope diagnosis. These three characteristics depict examples of how to distinguish between non-epileptic and epileptic spells using two of the differentiating factors expressed by Hindley (2006).
These cases dealt with an epileptic diagnosis being given to non-epileptic events. However, the reverse can happen as well. The lack of knowledge regarding the symptoms of epilepsy can lead to an improper diagnosis of an actual epileptic episode. In other words, symptoms might be labeled as being non-epileptic when in reality the patient possesses epilepsy. Murthy (1999) conducted a study for the factors leading to delay in diagnosis of Juvenile Myoclonic Epilepsy (JME) in South India with 131 patients. The symptoms for JME are explicitly known; however, the time span in which they appear can vary between each other. For example, generalized tonic clonic seizures (GTCS) are often the first symptoms to appear but the circadian relations to awakening from sleep might not be fully manifested right away. Additionally, the appearance of absence seizures can precede GTCS and myoclonic jerks by 4 to 5 years. If a doctor is unaware of the time span and characteristics of the symptoms of JME, they might just give a diagnosis of absence epilepsy and not even consider JME as a potential future problem. If the contrasts between non-epileptic episodes and specific epileptic seizures are not very well known, there can be an effect on the diagnosis given to a patient.
Misinterpretation of Data: EEGs, MRI, Etc.
When in centers that do not specialize in epilepsy, it is hard to accurately analyze the data collected through different tests in order to give the proper diagnosis (Britton 2004 cited by Fattouch et al 2007; Uldall et al 2006). The study conducted by Fattouch et al (2007) had a cohort of 62 subjects, 57 of which were found to have a definite diagnosis of syncope. They were divided up into two groups to further analyze their data accordingly. 30 of the patients had received a “definite epileptic” diagnosis; they made up the syncopes misdiagnosed as epileptic seizures (SMS) group. 27 of the patients were only suspected of having epilepsy; these individuals were labeled as unrecognized syncopes (US). 70% of the SMS patients showed abnormal EEGs and 37% showed some alteration in their MRI findings. In the US group, 33% had EEG abnormality and only 1 had an MRI alteration. These statistics showed that there were abnormal results collected from the MRI and EEGs, however, all of the subjects had a syncope diagnosis, despite those abnormalities.
Similarly, in Hindley’s (2006) study, of 380 subjects, there were differing abnormalities found. Abnormalities were reported in 84% of the subject count. Of this group, 85% of them were abnormal at the first testing, but for 15% a repeat EEG, sleep EEG, or prolonged EEG was required. This showed that due to uncertainty, a second testing might be needed for established accuracy. 53% of the entire subject population had computed tomography (CT) scans, out of which 23% showed some type of abnormality. 52% had magnetic resonance imaging (MRI) scans, and 41% of this group showed abnormality. The large presence of abnormalities could have misled an epileptic diagnosis. However, only 23% of the subject population was actually confirmed to have an epilepsy diagnosis.
This shows that some doctors might be tricked by those abnormalities thinking that they point directly to an epileptic characteristic of EEGs and MRIs. However, a proper analysis is required to be able to distinguish between abnormal syncope, or other non-epileptic events, results and definite epileptic results.
Doctors’ Certainty of Diagnosis:
The certainty of a doctor on the diagnosis they are giving can deter from the proper steps being taken to reach confirmation of an intended diagnosis. Some doctors underestimate symptoms because they don’t want to give a harsh diagnosis such as epilepsy for symptoms, which they are unclear of, to then have to retract it. So, they prefer to label it as not being epilepsy, and then correct it after the fact. (O’Donohoe 1994 cited by Hindley 2006) In Uldall’s (2006) et al study, 223 children were observed, 17% of them had referrals where their doctor had doubt about their epileptic diagnosis. From these uncertain referrals, 18% had confirmed epilepsy and 82% did not have confirmed epilepsy. These doctors, worked similar to what Hindley talked about, showing that it was better to have a non-epileptic or uncertain diagnosis to then have it corrected. In contrast to this idea, Uldall’s (2006) study also had 83% of their subject population with referrals where their doctors were “without a doubt” certain of their epileptic diagnosis. From these, 70% had a confirmed epileptic diagnosis and 30% did not actually have epilepsy. The referrals from these doctors came mostly at the request of parents. This shows that doctor’s could have such a strong feeling about their epileptic diagnosis, despite their equipment and setting being inferior to that of the epileptic centers, that 30% of patients would have been dismissed with the wrong diagnosis. This is the perfect depiction of when the certainty of a doctor could negatively impact the misdiagnosis of epilepsy.
CONCLUSION
When dealing with the diagnosis of epilepsy, it is important to take into consideration the different symptoms and possible non-epileptic diagnoses, as well as accurately decipher the clinical data before a final diagnosis is made (Murthy 1999; Hindley et al 2006; Uldall et al 2006; Fattouch et al 2007). Additionally, doctors should never be too certain in their diagnosis, especially one that was made outside of an epileptic center. Since major factors established to affect misdiagnosis of epilepsy are often present in areas not specialized for epilepsy, it can be inferred that a proposed solution to the misdiagnosis of epilepsy is the referral of any episodes that even seemingly resemble epilepsy to epilepsy centers before an epilepsy diagnosis is made (Murthy 1999; Hindley et al 2006; Uldall et al 2006; Fattouch et al 2007). The major implications for the misdiagnosis of epilepsy can be a delay in appropriate treatment for the proper condition. The exact side effects of receiving treatment for the wrong condition was not explored by these researchers; therefore, that is an area for possible future directions in this topic.
References:
Fattouch J., Di Bonaventura C., Strano S., Vanacore N., Manfredi M., Prencipe M., Giallonardo A.T. 2007. Over-interpretation of electroclinical and neuroimaging findings in syncope misdiagnosed as epileptic seizures. Epileptic Discord. 9(2)(170-173) [Internet][Accessed May 8 2019]
Available from: https://pdfs.semanticscholar.org/d2f5/2e5e508d5cb5fbae52f1d0256a4759220345.pdf
Hindley D., Ali A., Robson C. 2006. Diagnoses made in a secondary care “fits, faints, and funny turns” clinic. ADC. 91(3)(214-218). [Internet] [Accessed April 15 2019]
Available from: https://adc-bmj-com.clinical-proxy.libr.ccny.cuny.edu/content/91/3/214
Murthy JM. 1999. Factors of error involved in the diagnosis of juvenile myoclonic epilepsy: a study from South India. Neurology India. 47(3)(210-213). [ Internet] [Accessed April 13 2019]
Available from: http://www.neurologyindia.com/article.asp?issn=0028-3886;year=1999;volume=47;issue=3;spage=210;epage=3;aulast=murthy
Uldall P., Alving J., Hansen L K., Kibaek M., Buchholt J. 2006. The misdiagnosis of epilepsy in children admitted to a tertiary epilepsy centre with paroxysmal events. ADC. 91(3)(219-221). [Internet] [Accessed April 10 2019]
Available from: https://adc-bmj-com.clinical-proxy.libr.ccny.cuny.edu/content/91/3/219
