Dravet Syndrome Charlotte DRAVET Renzo GUERRINI 9782742007370 Books
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Dravet syndrome is a rare and severe form of epilepsy. Severe myoclonic epilepsy in infancy was described for the first time by Charlotte Dravet in 1978 in Marseille. Common characteristics were observed, such as it appearing during the first year of life, sensitivity to fever, various types of seizures particularly myoclonic, and mental retardation. The following descriptions then led to the recognition of a genuine epileptic syndrome. Renzo Guerrini contributed to the understanding of its genetic factors and its response to antiepileptic medication. New drugs have emerged since and studies on cognitive disorders have enabled to determine the delayed development. The authors offer a summary of Dravet syndrome, and in particular, a description of the electroclinical characteristics that will help towards a better diagnosis. The different treatment options are illustrated in the work, which also provides an update on the genetics. While a large number of questions remain on the understanding of this syndrome, this monograph is an essential tool for practitioners to improve the management of children with epilepsy.
Dravet Syndrome Charlotte DRAVET Renzo GUERRINI 9782742007370 Books
Charlotte Dravet with her coauthor Renzo Guerrini wrote the «Dravet Syndrome» book, which is currently positioned as the most complete description of all aspects of Severe myoclonic epilepsy of infancy (SMEI) and its borderline forms that are combined together in the syndrome, named with the author’s name as she is a specialist who has devoted to it’s study the greatest amount of effort and time. The book is written with very simple language, it has a quite sustained structure of information about the disease, which makes it possible to study it from all aspects: from epidemiology to the biomolecular mechanisms that may underlie it. The examples and cases of some patients are listed. The book contains many explanatory illustrations, as well as a diagram of the generalized algorithm, which is proposed for the diagnosis and treatment of patients with Dravet syndrome.Nevertheless, the book has the significant drawback that it is revealed in the first few pages. The fact that the subject of the book, that the most notorious «Dravet syndrome», is absolutely not defined. The definition, which is given by the recommendations of the International League Against Epilepsy (ILAE), is non-operating because it is impossible clearly attribute the observed clinical manifestations to this disease. In other words, there are no clear criteria for referring observed cases to the Dravet syndrome.
The author doesn’t give any criteria also, but moreover makes the expansion of the definition of ILAE so that the group of patients with Dravet syndrome can include any child who has drug-resistant epileptic seizures provoked by an increase of temperature. But this was not too enough for the author, so the criteria have been expanded further, and the group began to include lots of patients, some of whom do not even manifestated myoclonic seizures, as well as their psychomotor development goes according to age average. As a result, it is concluded that the epidemiological indicators at the current time are likely underreported because doctors don’t put this diagnosis when it could be put.
In order to improve the situation, the author is trying to determine Dravet syndrome through extensive listing of it’s features by attributing them to the quantitative indicators of the compliance degree. For example, «in a study, of some authors the ataxia was observed from 50 % to 83 % of patients», and so on within a huge number of features. Some selected features (e. g., hyperactivity and opposite behaviour) are intrinsic to the majority of children in the age when the disease manifests itself most strongly, therefore, talking about such features is mostly senselessly. Thus, there is no statistical analysis, which let to calculate the correlation between the observed features and the disease, which could be presented at least in easy way as a table of the following form:
Feature
No
Yes
Desease
No
A %
B %
Yes
C %
D %
Such a table allows to relate the manifestation of any feature with presence or absence of the disease and then to calculate the conditional probability of having the disease under the observation of this feature, confidence intervals, odds ratios and p-values. Most doctors fully understand these statistics and metrics, so they might more careful approach to the diagnosis. Nevertheless and this method would have the low level of certainty, so one need to count the uncertainty coefficient by which the observed clinical picture is related to the disease, and this need to be done on the whole range of extensive features. Moreover, because the disease itself is not clearly defined, these tables with the corresponding values of statistical metrics would have to generate for many pairs of the observed symptoms.
But the doctor, who could read the current version of the description of Dravet syndrome in this a book, doesn’t get any tools for diagnostics. Moreover, the only degrees of manifestation of observed symptoms are given (e. g., ataxia: 50 % — 83 %), often they are in interval form. So what about the doctor who, for example, observes ataxia in some specific case? And what should this doctor do if in another case ataxia isn’t observed? Yes, there is very definite algorithm, which is proposed in the book, but it is quite fuzzy. It turns out that today only author’s intuition can attribute the case to a group of Dravet syndrome. So the author couldn’t transmit her intuitive knowledge, but all described in the book is rather harmful, because it does not provide a clear methodology for the diagnosis and allows doctors to diagnose the Dravet syndrome in a lot of variuos cases, many of which are unrelated to the original type of selected epilepsy — SMEI.
The same applies to the most contentious and controversial aspect of this disease — the presence of any correspondence with mutations in certain genes, especially in the gene SCN1A, which codes the voltage-gated sodium channel, type 1. The book contains of conflicting information about the influence of mutations in this gene on the development and prognosis of the disease, where the first paragraph refers to the direct effect of such mutations, and almost in the following paragraph it is written that nothing more is known, everything is very vague, and there are examples of patients who have mutations, which do not affect the positive outcome and complete cure of the disease.
This is again the invalidity of the methodological approach of the author in this aspect. Yes, there were conducted numerous genetic research and found mutations in SCN1A gene. However, none of the cited sources mentions about the people who carry any mutation in this gene but do not have any clinical manifestations. There may be a principle of positive samples when only those individuals, who has any clinical manifestations, are tested for mutations. As a result, the question of the degree of penetrance of these mutations in SCN1A gene remains open (as, for example, it may be that 90 % of all mutations in it do not have any clinical implications, but no one doesn’t know, as people without clinical symptoms don’t carry out the genetic analysis).
Another biochemical aspects associated with mutations in the SCN1A gene, is the presence of two types of mutations. The first type is so-called nonsense mutations that lead to premature stop of the protein synthesis of the sodium channel. In this case, we are talking about haploinsufficiency of the first type sodium channels, and the channels themselves, which are synthetized from another copy of the genetic information, work properly (and at the same time, there are eight other types of sodium channels, which have one function — the passing of sodium current through the cell membrane). The second type is missense mutations when the sodium channel protein is synthesized with change of any amino acid, resulting in improper function. Such mutations are associated with incorrect transmission of sodium current through the neuronal membrane, which often entails hyperexcitability of neurons, and, as a consequence, the spread of seizure activity in the cerebral cortex. The author claims that by carried meta-analysis of multiple sources the most severe phenotype have a nonsense mutations, but the causes of such symptoms and the mechanism of occurrence of epileptic seizures in this case is unclear. By the way the author don’t make any difference between these two types of mutations at all, however, it seems clear that despite equifinality of clinical manifestations, biochemical mechanisms underlying the disease in these two cases are different, and, therefore, used treatment should be different. This important question is bypassed shamefully in the book.
As a result, the main question remains unanswered — whether mutations in the SCN1A gene cause the Dravet syndrome and whether one could set a diagnosis on the basis of a mutation in this gene. If it can’t be done (it is assumed in the text of the book), then why do children who have resistant and recurrent febrile seizures, are sent to a genetic analysis? What are the true biochemical processes, which underlie the pathology? After all, if we dig deeper into the subject of SCN1A gene mutations, the families will be found, in which originally obtained de novo mutation begins to spread across the generations, and if the parent has no clinical manifestations at all, different children who get the mutation inherited have completely different diseases: from banal febrile seizures till SMEI. A reasonable question: why such families are not detailed investigated further? It is a real opportunity to dig into the underlying causes.
Further in the book it is given more or less complete diagnostics algorithm for Dravet syndrome. However, the described algorithm doesn’t correspond to what is written in the book before. If one uses the algorithm by itself, then in a group of patients with the disease it will be included a very small number of children with febrile seizures with earlier onset before 1 year of life. The feeling is that this algorithm doesn’t include the significant features that remain in the mind of the author on implicit level, or even at the level of doctor’s intuition. This is difficult to say, as by the text of the book it is impossible to understand the author's intuitive criteria. Thus, the author has failed to achieve the goal of the book — to convey to other doctors the author's methodology of diagnosis and treatment. Moreover, there is no description of author's methodology of diagnosis in the book at all, since it describes several methods which are used in other scientific and medical teams.
Finally, the treatment algorithm looks very incomplete, perfunctory. Yes, there is no doubt that this is an extremely resistant form of the disease, but even an analysis of the causes of resistance isn’t carried out. For example, in some cases it may be resistance, which associated with changes in the metabolism of drugs associated with genetic abnormalities in the genes or cytochrome P450 or glucuronosyltransferase. In other cases, it may be a different reaction to the administered drugs in patients with different types of mutations in SCN1A gene (as mentioned above), or even without a mutation in this gene. Hence the approach which applies only symptomatic treatment looks strange, when paroxysmal discharges in the head of children are supressed, but the cause of the disease remains unknown and, therefore, not covered by treatment.
Therefore there is nothing surprising in the fact that in many cases the prognosis of the disease is extremely poor. And the author writes herself that the reason of the heavy prognosis is largely unknown, whether it is so notorious genetic abnormalities affect the brain, whether it is paroxysmal and seizure activity, or used drugs. But if the cause of the disease is unknown, and the treatment is symptomatic, that is the most visible manifestations are blocked, most likely, without any influence on the internal processes, so these unreached internal processes can cause poor prognosis. In other words, the treatment removes the symptoms of progressive disease, which continues to grow, but this is simply not visible. And as the result — poor prognosis.
It is very unpleasant to see in this book outright product placement, that is, in this case, references for advertising of certain medicines. It is, of course, about Stiripentole. The book describes this drug as the only real help to patients with Dravet syndrome, but it has absolutely no mention that clinical trials of this drug took place on a very limited set of patients, and the results of these tests are not so clear. There are patients to whom the use of this drug has caused extraordinary deterioration. If we consider the group identified children with a diagnosis of «Dravet syndrome» in Russia and the Ukraine (about 30 children from 1 to 15 years), then the part of those who took Stiripentol has serious deterioration.
However, as a result, the book advocated an individual approach to each patient. It is more justified by the fact that the clinical manifestations in each case differ very strong, so all aspects and nuances have to be taken into account. But this declaration remains as a declaration, since in the section on treatment it is given particular treatment algorithm, and the vast majority of doctors just uses it, not even perceiving the words of parents about certain aspects of desease. So it is hard to say what the problem is — in a particular book or in the entire health care system in the world.
Fuel to the fire adds the fact that a lot of space in the book is devoted to the description of unusual symptoms that seem to accompany the basic disease. It is, first of all, the various vegetative and autonomic symptoms, changing behavior and impaired cognitive skills. But again, no conclusions are made, the typical treatment scheme is given, and the reasons for such non-typical symptoms are left out of consideration. As the result it is happened so as with one little girl from Russia, who was advised by foreign experts, including the author. This patient was able to achieve remission and for a long period of time there were no seizures. But at the same time she takes a large number of anti-epileptic drugs in major doses, so she is almost in vegetative state. At the same time, one hundred percent of EEG shows epileptiform activity throughout the duration of the recording of indicators. But there are no seizures.
Another example. The book mentioned several times about the fact that courses of immunoglobulins help to patients with Dravet syndrome. However the question of the presence in these patients of persistent infections (primarily herpesvirus infections in the nervous system) is completely bypassed. But the author writes: «We don’t know, why immunoglobulins help». But again, monitoring of patients in Russia shows that the children, to whom immunoglobulins help, are carriers of persistent herpesvirus infections (primarily EBV, CMV, and HHV-6), exacerbation of which immediately causes and exacerbation of epileptic seizures.
Finally, monitoring of some patients in Russia and Ukraine showed that the presence of drug-resistant seizures can be caused by damage to the midbrain and other deep structures of the nervous system as a result of the same infection (missed early encephalitis — there are few examples of patients). It is possible that the start of seizures occurs from the deep brain structures, so the modern anti-epileptic drugs can’t cut these seizures, since they are designed to work with the cerebral cortex. Hence the same is happening with already mentioned vegetative and autonomous symptoms, as well as with interictal myoclonus, which has no correlate with EEG curves. But, unfortunately, these questions aren’t researched by anyone.
As a result, despite the fact that in the introduction to the book it is written that this book shows the triumph of the syndromic approach, thoughtful reading contrary casts doubt on this approach and reject it. Yes, systematization and classification is necessary, it is part of the scientific activity, which allows to simplify the objects of study. However, it is impossible to do so forcibly and frankly inclusive, coming up with very extended criteria, which allow, if necessary, to draw almost any desired case in «my syndrome».
All of the above makes it possible to put forward a proposal for a working hypothesis. It is possible that some of the patients who are diagnosed with «Dravet Syndrome», have health problems related to various primary disorders. It may be damage to the nervous system, it can be metabolic disorders, it may be a problem with the liver, kidneys, pancreas, and all those heavy pathology which may entail seizures. It also includes immune diseases (including autoimmune disorders), viral infections, endocrine disorders, and, of course, cardiac disorders. All of the above could be the cause of severe manifestations of the epileptic nature due to the fact that in some patients, these problems are superimposed on the genetic abnormalities in genes SCN1A, SCN2A, SCN9A, GABRG2, PCDH19 and possibly others that have not yet been identified. By themselves, these genetic anomalies do not lead to pathologies, but cause a high level of susceptibility to a variety of problems, as well as an increased level of convulsive readiness.
Now we have to make some recommendations to various categories of potential readers of this book.
To doctors we would like to wish don’t follow the fashion trends and don’t approach to the question of diagnosis of their patients carelessly and using the templates. Typical scheme is the first step that allows you to cut off the least credible hypothesis. And then, it is needed meticulous differentiation and check of every nuance. You can’t just say, «Oh, it's Dravet syndrome, here are Clobazam, Valproate, and Striripentol, the only more or less effective combination». Yes, it's too easy and simple, and inexperienced parents, who, moreover, has a heavy load as extricating a sick child, can simply pass the nerves. The doctor is bad, who thinks that is enough to get rid of seizures, to announce the «remission».
To parents we need to wish the patience and courage firstly. These two qualities will help to pass all the ordeals and, eventually, to get out from them with dignity. One shouldn’t give up in any case, but need to look and learn. It is necessary to use any clue, any indirect signs to try to identify the causes of the disease and to influence them. The sooner this is done, the more chances the child has. There is no need to waste time for whining and complaints at the Internet forums and groups in social networks, discussing the same thing with the same unhappy parents. It is better to use this time for studying all the necessary disciplines, which ultimately can help. Remember, only you need to get your child to be healthy, and no one will help you if you do not help yourself. Unfortunately, this homespun truth.
The body is a holistic system, and therefore it should be treated by confessing a holistic system approach.
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Tags : Dravet Syndrome [Charlotte DRAVET, Renzo GUERRINI] on Amazon.com. *FREE* shipping on qualifying offers. Dravet syndrome is a rare and severe form of epilepsy. Severe myoclonic epilepsy in infancy was described for the first time by Charlotte Dravet in 1978 in Marseille. Common characteristics were observed,Charlotte DRAVET, Renzo GUERRINI,Dravet Syndrome,John Libbey Eurotext ltd,2742007377,Medicine General,Medical Pediatrics,MedicalNeurology - General
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Dravet Syndrome Charlotte DRAVET Renzo GUERRINI 9782742007370 Books Reviews
Great Book written by Dr Charlotte Dravet herself.
Charlotte Dravet with her coauthor Renzo Guerrini wrote the «Dravet Syndrome» book, which is currently positioned as the most complete description of all aspects of Severe myoclonic epilepsy of infancy (SMEI) and its borderline forms that are combined together in the syndrome, named with the author’s name as she is a specialist who has devoted to it’s study the greatest amount of effort and time. The book is written with very simple language, it has a quite sustained structure of information about the disease, which makes it possible to study it from all aspects from epidemiology to the biomolecular mechanisms that may underlie it. The examples and cases of some patients are listed. The book contains many explanatory illustrations, as well as a diagram of the generalized algorithm, which is proposed for the diagnosis and treatment of patients with Dravet syndrome.
Nevertheless, the book has the significant drawback that it is revealed in the first few pages. The fact that the subject of the book, that the most notorious «Dravet syndrome», is absolutely not defined. The definition, which is given by the recommendations of the International League Against Epilepsy (ILAE), is non-operating because it is impossible clearly attribute the observed clinical manifestations to this disease. In other words, there are no clear criteria for referring observed cases to the Dravet syndrome.
The author doesn’t give any criteria also, but moreover makes the expansion of the definition of ILAE so that the group of patients with Dravet syndrome can include any child who has drug-resistant epileptic seizures provoked by an increase of temperature. But this was not too enough for the author, so the criteria have been expanded further, and the group began to include lots of patients, some of whom do not even manifestated myoclonic seizures, as well as their psychomotor development goes according to age average. As a result, it is concluded that the epidemiological indicators at the current time are likely underreported because doctors don’t put this diagnosis when it could be put.
In order to improve the situation, the author is trying to determine Dravet syndrome through extensive listing of it’s features by attributing them to the quantitative indicators of the compliance degree. For example, «in a study, of some authors the ataxia was observed from 50 % to 83 % of patients», and so on within a huge number of features. Some selected features (e. g., hyperactivity and opposite behaviour) are intrinsic to the majority of children in the age when the disease manifests itself most strongly, therefore, talking about such features is mostly senselessly. Thus, there is no statistical analysis, which let to calculate the correlation between the observed features and the disease, which could be presented at least in easy way as a table of the following form
Feature
No
Yes
Desease
No
A %
B %
Yes
C %
D %
Such a table allows to relate the manifestation of any feature with presence or absence of the disease and then to calculate the conditional probability of having the disease under the observation of this feature, confidence intervals, odds ratios and p-values. Most doctors fully understand these statistics and metrics, so they might more careful approach to the diagnosis. Nevertheless and this method would have the low level of certainty, so one need to count the uncertainty coefficient by which the observed clinical picture is related to the disease, and this need to be done on the whole range of extensive features. Moreover, because the disease itself is not clearly defined, these tables with the corresponding values of statistical metrics would have to generate for many pairs of the observed symptoms.
But the doctor, who could read the current version of the description of Dravet syndrome in this a book, doesn’t get any tools for diagnostics. Moreover, the only degrees of manifestation of observed symptoms are given (e. g., ataxia 50 % — 83 %), often they are in interval form. So what about the doctor who, for example, observes ataxia in some specific case? And what should this doctor do if in another case ataxia isn’t observed? Yes, there is very definite algorithm, which is proposed in the book, but it is quite fuzzy. It turns out that today only author’s intuition can attribute the case to a group of Dravet syndrome. So the author couldn’t transmit her intuitive knowledge, but all described in the book is rather harmful, because it does not provide a clear methodology for the diagnosis and allows doctors to diagnose the Dravet syndrome in a lot of variuos cases, many of which are unrelated to the original type of selected epilepsy — SMEI.
The same applies to the most contentious and controversial aspect of this disease — the presence of any correspondence with mutations in certain genes, especially in the gene SCN1A, which codes the voltage-gated sodium channel, type 1. The book contains of conflicting information about the influence of mutations in this gene on the development and prognosis of the disease, where the first paragraph refers to the direct effect of such mutations, and almost in the following paragraph it is written that nothing more is known, everything is very vague, and there are examples of patients who have mutations, which do not affect the positive outcome and complete cure of the disease.
This is again the invalidity of the methodological approach of the author in this aspect. Yes, there were conducted numerous genetic research and found mutations in SCN1A gene. However, none of the cited sources mentions about the people who carry any mutation in this gene but do not have any clinical manifestations. There may be a principle of positive samples when only those individuals, who has any clinical manifestations, are tested for mutations. As a result, the question of the degree of penetrance of these mutations in SCN1A gene remains open (as, for example, it may be that 90 % of all mutations in it do not have any clinical implications, but no one doesn’t know, as people without clinical symptoms don’t carry out the genetic analysis).
Another biochemical aspects associated with mutations in the SCN1A gene, is the presence of two types of mutations. The first type is so-called nonsense mutations that lead to premature stop of the protein synthesis of the sodium channel. In this case, we are talking about haploinsufficiency of the first type sodium channels, and the channels themselves, which are synthetized from another copy of the genetic information, work properly (and at the same time, there are eight other types of sodium channels, which have one function — the passing of sodium current through the cell membrane). The second type is missense mutations when the sodium channel protein is synthesized with change of any amino acid, resulting in improper function. Such mutations are associated with incorrect transmission of sodium current through the neuronal membrane, which often entails hyperexcitability of neurons, and, as a consequence, the spread of seizure activity in the cerebral cortex. The author claims that by carried meta-analysis of multiple sources the most severe phenotype have a nonsense mutations, but the causes of such symptoms and the mechanism of occurrence of epileptic seizures in this case is unclear. By the way the author don’t make any difference between these two types of mutations at all, however, it seems clear that despite equifinality of clinical manifestations, biochemical mechanisms underlying the disease in these two cases are different, and, therefore, used treatment should be different. This important question is bypassed shamefully in the book.
As a result, the main question remains unanswered — whether mutations in the SCN1A gene cause the Dravet syndrome and whether one could set a diagnosis on the basis of a mutation in this gene. If it can’t be done (it is assumed in the text of the book), then why do children who have resistant and recurrent febrile seizures, are sent to a genetic analysis? What are the true biochemical processes, which underlie the pathology? After all, if we dig deeper into the subject of SCN1A gene mutations, the families will be found, in which originally obtained de novo mutation begins to spread across the generations, and if the parent has no clinical manifestations at all, different children who get the mutation inherited have completely different diseases from banal febrile seizures till SMEI. A reasonable question why such families are not detailed investigated further? It is a real opportunity to dig into the underlying causes.
Further in the book it is given more or less complete diagnostics algorithm for Dravet syndrome. However, the described algorithm doesn’t correspond to what is written in the book before. If one uses the algorithm by itself, then in a group of patients with the disease it will be included a very small number of children with febrile seizures with earlier onset before 1 year of life. The feeling is that this algorithm doesn’t include the significant features that remain in the mind of the author on implicit level, or even at the level of doctor’s intuition. This is difficult to say, as by the text of the book it is impossible to understand the author's intuitive criteria. Thus, the author has failed to achieve the goal of the book — to convey to other doctors the author's methodology of diagnosis and treatment. Moreover, there is no description of author's methodology of diagnosis in the book at all, since it describes several methods which are used in other scientific and medical teams.
Finally, the treatment algorithm looks very incomplete, perfunctory. Yes, there is no doubt that this is an extremely resistant form of the disease, but even an analysis of the causes of resistance isn’t carried out. For example, in some cases it may be resistance, which associated with changes in the metabolism of drugs associated with genetic abnormalities in the genes or cytochrome P450 or glucuronosyltransferase. In other cases, it may be a different reaction to the administered drugs in patients with different types of mutations in SCN1A gene (as mentioned above), or even without a mutation in this gene. Hence the approach which applies only symptomatic treatment looks strange, when paroxysmal discharges in the head of children are supressed, but the cause of the disease remains unknown and, therefore, not covered by treatment.
Therefore there is nothing surprising in the fact that in many cases the prognosis of the disease is extremely poor. And the author writes herself that the reason of the heavy prognosis is largely unknown, whether it is so notorious genetic abnormalities affect the brain, whether it is paroxysmal and seizure activity, or used drugs. But if the cause of the disease is unknown, and the treatment is symptomatic, that is the most visible manifestations are blocked, most likely, without any influence on the internal processes, so these unreached internal processes can cause poor prognosis. In other words, the treatment removes the symptoms of progressive disease, which continues to grow, but this is simply not visible. And as the result — poor prognosis.
It is very unpleasant to see in this book outright product placement, that is, in this case, references for advertising of certain medicines. It is, of course, about Stiripentole. The book describes this drug as the only real help to patients with Dravet syndrome, but it has absolutely no mention that clinical trials of this drug took place on a very limited set of patients, and the results of these tests are not so clear. There are patients to whom the use of this drug has caused extraordinary deterioration. If we consider the group identified children with a diagnosis of «Dravet syndrome» in Russia and the Ukraine (about 30 children from 1 to 15 years), then the part of those who took Stiripentol has serious deterioration.
However, as a result, the book advocated an individual approach to each patient. It is more justified by the fact that the clinical manifestations in each case differ very strong, so all aspects and nuances have to be taken into account. But this declaration remains as a declaration, since in the section on treatment it is given particular treatment algorithm, and the vast majority of doctors just uses it, not even perceiving the words of parents about certain aspects of desease. So it is hard to say what the problem is — in a particular book or in the entire health care system in the world.
Fuel to the fire adds the fact that a lot of space in the book is devoted to the description of unusual symptoms that seem to accompany the basic disease. It is, first of all, the various vegetative and autonomic symptoms, changing behavior and impaired cognitive skills. But again, no conclusions are made, the typical treatment scheme is given, and the reasons for such non-typical symptoms are left out of consideration. As the result it is happened so as with one little girl from Russia, who was advised by foreign experts, including the author. This patient was able to achieve remission and for a long period of time there were no seizures. But at the same time she takes a large number of anti-epileptic drugs in major doses, so she is almost in vegetative state. At the same time, one hundred percent of EEG shows epileptiform activity throughout the duration of the recording of indicators. But there are no seizures.
Another example. The book mentioned several times about the fact that courses of immunoglobulins help to patients with Dravet syndrome. However the question of the presence in these patients of persistent infections (primarily herpesvirus infections in the nervous system) is completely bypassed. But the author writes «We don’t know, why immunoglobulins help». But again, monitoring of patients in Russia shows that the children, to whom immunoglobulins help, are carriers of persistent herpesvirus infections (primarily EBV, CMV, and HHV-6), exacerbation of which immediately causes and exacerbation of epileptic seizures.
Finally, monitoring of some patients in Russia and Ukraine showed that the presence of drug-resistant seizures can be caused by damage to the midbrain and other deep structures of the nervous system as a result of the same infection (missed early encephalitis — there are few examples of patients). It is possible that the start of seizures occurs from the deep brain structures, so the modern anti-epileptic drugs can’t cut these seizures, since they are designed to work with the cerebral cortex. Hence the same is happening with already mentioned vegetative and autonomous symptoms, as well as with interictal myoclonus, which has no correlate with EEG curves. But, unfortunately, these questions aren’t researched by anyone.
As a result, despite the fact that in the introduction to the book it is written that this book shows the triumph of the syndromic approach, thoughtful reading contrary casts doubt on this approach and reject it. Yes, systematization and classification is necessary, it is part of the scientific activity, which allows to simplify the objects of study. However, it is impossible to do so forcibly and frankly inclusive, coming up with very extended criteria, which allow, if necessary, to draw almost any desired case in «my syndrome».
All of the above makes it possible to put forward a proposal for a working hypothesis. It is possible that some of the patients who are diagnosed with «Dravet Syndrome», have health problems related to various primary disorders. It may be damage to the nervous system, it can be metabolic disorders, it may be a problem with the liver, kidneys, pancreas, and all those heavy pathology which may entail seizures. It also includes immune diseases (including autoimmune disorders), viral infections, endocrine disorders, and, of course, cardiac disorders. All of the above could be the cause of severe manifestations of the epileptic nature due to the fact that in some patients, these problems are superimposed on the genetic abnormalities in genes SCN1A, SCN2A, SCN9A, GABRG2, PCDH19 and possibly others that have not yet been identified. By themselves, these genetic anomalies do not lead to pathologies, but cause a high level of susceptibility to a variety of problems, as well as an increased level of convulsive readiness.
Now we have to make some recommendations to various categories of potential readers of this book.
To doctors we would like to wish don’t follow the fashion trends and don’t approach to the question of diagnosis of their patients carelessly and using the templates. Typical scheme is the first step that allows you to cut off the least credible hypothesis. And then, it is needed meticulous differentiation and check of every nuance. You can’t just say, «Oh, it's Dravet syndrome, here are Clobazam, Valproate, and Striripentol, the only more or less effective combination». Yes, it's too easy and simple, and inexperienced parents, who, moreover, has a heavy load as extricating a sick child, can simply pass the nerves. The doctor is bad, who thinks that is enough to get rid of seizures, to announce the «remission».
To parents we need to wish the patience and courage firstly. These two qualities will help to pass all the ordeals and, eventually, to get out from them with dignity. One shouldn’t give up in any case, but need to look and learn. It is necessary to use any clue, any indirect signs to try to identify the causes of the disease and to influence them. The sooner this is done, the more chances the child has. There is no need to waste time for whining and complaints at the Internet forums and groups in social networks, discussing the same thing with the same unhappy parents. It is better to use this time for studying all the necessary disciplines, which ultimately can help. Remember, only you need to get your child to be healthy, and no one will help you if you do not help yourself. Unfortunately, this homespun truth.
The body is a holistic system, and therefore it should be treated by confessing a holistic system approach.
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