Epilepsy as One of the Human Disorders - Essay Example

Epilepsy The brain of a human being has some disorders and among them is the Epilepsy. This is a neurological condition that attacks the brain leading to mental seizure. This medical condition exists in various forms and one of them is Juvenile myoclonic epilepsy it which takes 10% of the total percentage of all the various types of epilepsy in the world. This type of Epilepsy accounts for 12%-30% of the patient population in healthcare facilities. Juvenile myoclonic epilepsy it is characterized by frequent and repetitive in nature with arrhythmic myoclonic body jerks commonly experienced at the puberty stage (Castiglione & Waltz, 695-704). This is always occurring in morning hours just after one has woken up with subsequent effect on the upper limbs which always lead to tonic-conic seizure associated with no loss memory or conscience. Some of the common initiators of this infection is stress, being photosensitive, less sleeping time and even consumption of alcohol (Cossette, Liu & Brisebois, 184-189). This condition is always at its prime of attack at the ages of between 12-18 with a non-genetic family background. Recent studies indicate that this condition attacks one spontaneously without any identifiable cause. On the other hand, advanced investigation indicates some chances of genetic association in this disease. Patients with this condition experiences a classic electrocephalogram (EEG) hallmark of some waves referred to as polyspike waves with a frequency range of 3.5- 6 Hz of a general bilateral synchrony between the two brain hemispheres and this endophenotype is the basis of epileptic anomaly which is experienced by the victim many times across the day, but may sometimes lead to clinical seizure. Surveys that have been carried out by the healthcare agencies shows an increased cases of this neurological condition in relatives of probands with a notable 50% unaffected relatives who are asymptomatic and when diagnosed shows no sign of JME and therefore considered to be JME negative but PSW-positive. However, they are not compelled to any medical prescription although the mentioned precipitating factors if triggered are likely to land them to an increased risk of brain seizure. Scientific investigations and findings have established that JME estimations shows a likelihood of genetic cause that is found in clustered lineage of families. It is imperative that genetic analysis is undertaken to allow for easy identification and JME disease. Identification of the primary epileptic abnormality is enabled by EEG endophenotype (PSW) and other factors may contribute to causal relationship. Primary epileptic abnormality identification is instrumental in uncovering how the electric discharges are generated and the explanation behind the cases of clinical seizure in some patients and resistance in others. The overall aim of this study is to give a comprehensive explanation of the occurrence of EEG endophenotype PSW with a sample of a statistically well defined population. The population for this study constitutes the asymptomatic relatives of JME with a positive EEG-PSW of age ranging 10-40 years. This age group constitute the old and the young so that there is exhaustive generalization of this condition’s implications. The relatives in this population include parents, offspring or siblings. This action will help in finding out answers to whether first degree relative who is EEG-PSW positive and a JME-patient can develop epilepsy over time (Metrakos,289). In the literature review from past studies, the common variable includes gene mutations, lack of sleep, and consumption of alcohol, age, ethnic affiliation and gender of the victim. Victims of this condition having gene mutation would develop clinical seizures which are directly related to epilepsy besides the family history of JME which is more likely to have family members with similar condition. There is also an existing interrelation among alcohol, ethnicity and age; a very rampant scenario for JME is the case of teenager who went partying late at night with friends and after consuming alcohol for some time was seized. This explains the reason as to why a number of cases were reported of the age group age of 18-20 years which is the age legally permitted for drinking and staying awake up to late hours in the night. This has a direct influence in developing the outcome. It has been noted that people who hardly take alcohol due to ethnic or religious reasons may not be exposed to the mental seizure unless they are affected by lack of enough sleep due to waking up early in the morning for daily activities like going to school or reporting to work. To identify the confounders, Bradford Hill criteria for cause-effect relationship. Mental seizure was preceded by alcohol consumption and excessive intake triggered it, this explains the dose-response association. This relationship was consistently observed with repetition in various studies, immediate circumstances, places and time, besides additional plausible biology, specification and the reversible trend were implemented with analogous presence. It is important to underscore other variables that entail measurement biases which are associated with EEG apparatus error hence noting the biases of PSW besides reporting biases resulting from erroneous EEG reading from untrained medical officers or fellows. Prospective Cohort will be the most suitable concept for study design. This will be because the investigation will involve following up the victims and taking observations on the numerous effect factors that entails epileptic incidences and prognostic factors. This will also include following up of relatives of JME who has EEG PSW alteration for myoclonic seizures development. In an effort to get rid of susceptibility bias both exposed and unexposed sample of the total population will be taken (Janz, 449-459). Some of the variables that will be regarded in this case include age of the patients, gender and ethnic affiliation with a comparable narrow range of characteristics. Use of exclusion criteria can reduce cases of extraneous factors influence in the final outcome other than PSW presence although this will still affect the external validity of the findings. This will likely distort the assessment of the variables that were excluded and it may also limit the selection of the sample size. To avoid errors, it is important to keep records and to minimize the influence of migration bias in the final results. To improve the quality of data its imperative that data collected is stratified. Randomized trials will be the ideal research design for attaining feasibly results concerning the concepts surrounding Juvenile myoclonic epilepsy References: Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31:184-189. Doose H, Castiglione E, Waltz S. Parental Generalized EEG Alpha Activity Predisposes to Spike Wave Discharges in Offspring.Human genetics 96, no. 6 (1995): 695-704. Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 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