Introduction
The current paper investigates the topic of SCN8A-related epilepsy. SCN8A denotes a gene that encodes sodium channels that could be found in significant numbers in the brain. In these channels, the electricity of the brain is produced, and their breakage increases this process. Therefore, this diagnosis is characterized by the destruction of these chains, which leads to epileptic attacks and even death. It is impossible to inherit this disorder and, thus, to predict that a child will have SCN8A-related epilepsy. The topic of SCN8A-related epilepsy deserves attention since there is no cure for this disease, and the existing treatment is unreliable. The paper contains the discussion of the standardized procedure for this diagnosis, suggests how the present experience would affect the medical practice concerning this kind of epilepsy.
Examination of the Patient’s Health Conditions and the Final Diagnosis
To begin with, the information on the patient and his health conditions should be presented. The patient is a 6-year-old boy who started to experience mild seizures for the first time at the age of 4. As a result of the following genetic testing, the patient was diagnosed with SCN8A-related epilepsy. Within the preceding two days, he experiences approximately six minor seizures that made the parents bring the child to the hospital for checking. The review of systems indicated that the boy has good vision, hearing, and sense of smell, his teeth and mouth cavity are in good condition as well. Parents deny the presence of cardiovascular, pulmonary, and gastrointestinal diseases and allergies. The only problem is his neurological condition since the patient claimed the existence of moderate nausea due to pain and experience a postictal period lasting approximately 2-4 hours after seizures. Because of being diagnosed with SCN8A epilepsy, the patient twice a day takes 60 mg of Vimpat which is used as a part of therapy for partial-onset seizures. However, the ongoing epileptic fits call into question the effectiveness of the prescribed treatment.
The patient experienced seizures, which are mostly focal and absent type and are without tonus or clonus. Most recently, the patient has been experiencing seizure activity daily at bedtime for approximately the last two weeks. While there are no identifiable aggravating or alleviating factors, the patient does take Vimpat orally, and the parents believe this medication reduces the severity and longevity of the seizures. The seizures generally last 30 seconds to one minute, followed by a 2 to 4-hour postictal fatigue.
The interview with the client and his family members reveals that both parents live together with the patient and his younger brother with autism. The family is Christian, and parents do not have any prejudices concerning different cultures and races. They also do not have any pernicious habits and only occasionally drink a couple of glasses of wine. Although the client’s parents periodically contact their parents for financial assistance, he has a good quality of life and enjoys playing games, TV, and swimming. However, he could be characterized as a petite child with a confident body image but with physical developmental delays. Nevertheless, in terms of intellectual development, it could be observed that the patient is literate at a grade level and can take care of himself. The boy also communicates well but participates in speech therapy for pronunciation. He is schooled at home because the teachers are not equipped to handle seizure activities. The child is aware of his illness, fully adapted, and compliant concerning the adherence to the regimen. Still, SCN8A-related epilepsy is not a widespread condition and, thus, the family has little community support.
As a result of the analysis, the patient was diagnosed with epilepsy (G40) which could be caused by many reasons. In this case, the child has been diagnosed with a genetic disorder of SCN8A, which disrupts the sodium ion channels. There is presently no identified treatment; however, the disease may be managed with sodium channel blockers. Most patients respond differently to these medications, and it usually requires several attempts to determine which drug is most effective (Genetics Home Reference, n.d.). The differential diagnoses are the complex partial epilepsy of the frontal or temporal lobe, psychogenic unresponsiveness (F44.5), and daydreaming (F98.8).
The patient’s pediatric neurologist stated that the patient should schedule a follow-up visit with his office, as the medication may need to have a dosing adjustment or medication change if the patient is not achieving desired results. Parents were advised to schedule this appointment. Besides, they should continue to monitor the child for seizure activity, respiratory compromise, or status epilepticus. If there is no change or activity gets worse within the next few days, the patient should be taken to an emergency department for further assessment.
Debates on the Treatment of SCN8A-Related Epilepsy
The rationale for the selection of this topic in the context of client care lies in the fact that SCN8A-related epilepsy remains an insufficiently studied disease. No cure was created, and there is no guarantee that the chosen treatment would suit the patient. Besides, the characteristics of this kind of epilepsy constantly evolve since new patients bring more clarity to this issue. Commonly, they are characterized by microcephaly, visual or hearing impairments, or various autonomic dysfunctions. However, the given case reveals that the client might not have all these previously mentioned features.
There are ongoing debates concerning the treatment of patients diagnosed with SCN8A-related epilepsy. For example, there are doubts that neurologists should prescribe phenytoin as the treatment of SCN8A encephalopathy. It has already been proven that phenytoin acts as a blocker of the sodium channel and exclusively targets this channel and has “no other molecular targets in the brain” (Braakman et al., 2017, p. 343). This medication is used for the prevention of tonic, clonic and focal seizures. However, it has no effect on the absence of seizures that are not followed by a prolonged postictal state and characterized by a briefer loss. Phenytoin is included in the list of essential medicines formulated by the World Health Organization (2019). In this context, it seems unreasonable to question the necessity for the application of this medicine.
The central aspect of concerns lies in the side effects of phenytoin. According to the American Society of Health-System Pharmacists (2019), this medicine leads to stomach pains, nausea, and appetite loss. Apart from this, phenytoin might cause liver and kidneys failures, toxic epidermal necrolysis, and low blood pressure, to name but a few severe possible consequences (The American Society of Health-System Pharmacists, 2019). Braakman et al. (2017) emphasize that phenytoin might even facilitate the development of cognitive impairments. This outcome is one of the most undesirable ones since the patients with SCN8A-related epilepsy already suffer from inhibited mental development.
At the same time, some cases confirm that the application of phenytoin to reduce the frequency and the severity of seizures was the right decision. Braakman et al. (2017) present the case of a 5-year-old patient. The authors inform that although phenytoin assisted their client to “prevent clustering of seizures,” it caused “ataxia, dysarthria, and somnolence” when the doctors prescribed this medicine to be taken not as a rescue medication but as maintenance therapy (Braakman et al., 2017, p. 344). Hence, the patient continues to take phenytoin in case of seizures to prevent their clustering. Nevertheless, this medicine shows side effects even when it is taken on a daily basis as a part of maintenance therapy. Additionally, the authors notice that other widespread treatments such as ketogenic diet, levetiracetam, zonisamide, and topiramate “to maintenance therapy resulted in rapid deterioration” (Braakman et al., 2017, p. 344). Thus, in the described circumstances, the patient has no other option but to face side effects for the sake of minimizing the severity of seizures and improving the quality of life.
The evidence suggested by Boerma et al. (2016) illustrates that phenytoin might be extremely useful for certain patients. The investigators describe four children with SCN8A mutation who experience epilepsy. High doses of phenytoin showed relatively mild side effects, and the total absence of seizures in three out of four patients (Boerma et al., 2016). These patients are united by the fact that they “had been antiepileptic drug-resistant before the introduction of phenytoin” (Boerma et al., 2016, p. 193). The authors admit that it remains unclear if the positive effects of this medicine depend on “the functional effects of missense mutations” (Boerma et al., 2016, p. 196).
The problem of uncertainty about results is evident not only in the treatment by phenytoin but also by other medications. For instance, Schreiber et al. (2019) conducted an examination of 19 patients with SCN8A-related epilepsy and figured out that it is impossible to predict the reaction of every individual on the medications. The authors claim that in the majority of cases, oxcarbazepine and lamotrigine were effective whereas “levetiracetam often resulted in worsening seizures and/or developmental regression” (Schreiber et al., 2019, p. 3). At the same time, they notice that “two patients improved with levetiracetam and two worsened with oxcarbazepine” (Schreiber et al., 2019, p. 3). From these findings, it could be inferred that even though “a higher proportion was worse on levetiracetam when compared to all other anti-seizure therapy trials,” this medication could not be excluded from ones that should be tried by the patient since still there are some people who are better off with it (Schreiber et al., 2019, p. 3).
Talking about the soundness of research, it is essential to notice that the conclusions of the scholars are based on the observation of the individual cases. They do not present any facts that could help to estimate beforehand the degree of severity of phenytoin’s or other medicines side effects and if they would ultimately alleviate seizures. A small sample is not the fault of the researchers. Instead, one should not forget that scholars just relatively recently found that mutations in SCN8A might cause epilepsy. This is exacerbated by the fact that SCN8A-related epilepsy is not a widely spread diagnosis. Thus, scholars are deprived of the chance to conduct research based on numerous patients’ observations to achieve statistically significant results.
Evaluation of the current EBM guidelines
The analysis of the literature indicated that there is no universal standardized procedure for testing and treating epilepsy. Epilepsy might be caused by numerous factors, and each of its kind requires specific treatment. Undoubtedly, there are some standard procedures such as EEG and testing for SCN8A that are “routine neurodiagnostic evaluations” (Singh et al., 2017, p. 7). After the examination and establishment of seizures causes, the neurologist should prescribe antiepileptic drug therapy. Still, as it has already been mentioned, the doctor and the patient should, through trial and error, discover which medicine would be the most effective.
Impact on Practice
The identified evidence reveals that the practice of treating SCN8A-related epilepsy is comprised of numerous uncertainties. Since there is no universal medicine that would relieve and minimize seizures without the devastating side effects, the physician should examine each case individually and search for a unique approach to every patient diagnosed with SCN8A-related epilepsy. The effectiveness of treatment on this epilepsy depends on the quality of a patient’s social life. Apart from the fact that the patients might suffer from delayed mental or physical development, they are also deprived of socialization with peers. Children have to be schooled at home since teachers are unaware of how to help them in case of a seizure. The example of the 6-year-old client with SCN8A-related epilepsy shows that current medical practice could not cure him, but it might be recommended to try taking other medications in search of those that would help most effectively.
References
Boerma, R. S., Braun, K. P., van de Broek, M. P., van Berkestijn, F. M., Swinkels, M. E., Hagebeuk, E. O., & de Kovel, C. G. (2016). Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: a molecular neuropharmacological approach. Neurotherapeutics, 13(1), 192-197.
Braakman, H. M., Verhoeven, J. S., Erasmus, C. E., Haaxma, C. A., Willemsen, M. H., & Schelhaas, H. J. (2017). Phenytoin as a last‐resort treatment in SCN 8A encephalopathy. Epilepsia Open, 2(3), 343-344.
Genetics Home Reference (n.d.). SCN8A-related epilepsy with encephalopathy. Web.
Schreiber, J. M., Tochen, L., Brown, M., Evans, S., Ball, L. J., Bumbut, A., & Fanto, E. (2019). A multi-disciplinary clinic for SCN8A-related epilepsy. Epilepsy Research, 159, 1-12.
Singh, S. P., Sankaraneni, R., & Antony, A. R. (2017). Evidence-based guidelines for the management of epilepsy. Neurology India, 65 (7), 6-11.
The American Society of Health-System Pharmacists. Phenytoin side effects. Web.
World Health Organization (2019). World Health Organization model list of essential medicines: 21st list 2019. World Health Organization.