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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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Panayiotopoulos syndrome is remarkably benign in terms of its evolution. The risk of developing epilepsy in adult life is probably no more than of the general population. Most patients have one or 2-5 seizures. Only a third of patients may have more than 5 seizures, and these may be frequent, but outcome is again favorable. However, one fifth of patients may develop other types of infrequent, usually rolandic seizures during childhood and early teens. These are also age-related and remit before the age of 16 years. Atypical evolutions with absences and drop attacks are exceptional. Children with pre-existing neurobehavioral disorders tend to be pharmacoresistant and have frequent seizures though these also remit with age.
Formal neuropsychological assessment of children with Panayiotopoulos syndrome showed that these children have normal IQ and they are not on any significant risk of developing cognitive and behavioural aberrations, which when they occur they are usually mild and reversible. Prognosis of cognitive function is good even for patients with atypical evolutions.
However, though Panayiotopoulos syndrome is benign in terms of its evolution, autonomic seizures are potentially life-threatening in the rare context of cardiorespiratory arrest.
Panayiotopoulos syndrome probably affects 13% of children aged 3 to 6 years who have had 1 or more afebrile seizures and 6% of such children in the 1- to 15-year age group. All races and both sexes are affected.
Onset is between 3 and 15 years of age with a mean of around 8. Both sexes are equally affected. The disorder accounts for about 2–7% of benign childhood focal seizures.
Possible causes include:
- Syncope (fainting)
- Reflex anoxic seizures
- Breath-holding spells of childhood
- Hypoglycaemia
- Cataplexy
- Hyperekplexia, also called startle syndrome
- Migraine
- Narcolepsy
- Non-epileptic myoclonus
- Opsoclonus
- Parasomnias, including night terrors
- Paroxysmal kinesigenic dyskinesia
- Repetitive or ritualistic behaviours
- Tics
- AADC Deficiency
The prognosis of ICOE-G is unclear, although available data indicate that remission occurs in 50–60% of patients within 2–4 years of onset. Seizures show a dramatically good response to carbamazepine in more than 90% of patients. However, 40–50% of patients may continue to have visual seizures and infrequent secondarily generalized convulsions, particularly if they have not been appropriately treated with antiepileptic drugs.
Long term outcomes are generally good with little risk of neurological problems or epilepsy. Those who have one febrile seizure have an approximately 40% chance of having another one in the next two years, with the risk being greater in those who are younger.
Simple febrile seizures do not tend to recur frequently (children tend to outgrow them) and do not make the development of adult epilepsy significantly more likely (about 3–5%) compared with the general public (1%). Children with febrile convulsions are more likely to have a febrile seizure in the future if they were young at their first seizure (less than 18 months old), have a family history of a febrile convulsions in first-degree relatives (a parent or sibling), have a short time between the onset of fever and the seizure, had a low degree of fever before their seizure, or have a seizure history of abnormal neurological signs or developmental delay. Similarly, the prognosis after a complex febrile seizure is excellent, although an increased risk of death has been shown for complex febrile seizures, partly related to underlying conditions.
The causes of epilepsy in childhood vary. In about ⅔ of cases, it is unknown.
- Unknown 67.6%
- Congenital 20%
- Trauma 4.7%
- Infection 4%
- Stroke 1.5%
- Tumor 1.5%
- Degenerative .7%
Febrile seizures are due to fevers, usually those greater than . The cause of the fevers is often a viral illness. The likelihood of a febrile seizure is related to how high the temperature reaches. Some feel that the rate of increase is not important while others feel the rate of increase is a risk factor. This latter position has not been proven.
Another factor that increases the risk is a number of vaccines. This increase in risk, however, is small. Implicated vaccines include measles/mumps/rubella/varicella, diphtheria/tetanus/acellular pertussis/polio/Haemophilus influenzae type b, whole-cell pertussis, some versions of the pneumococcal vaccine, and some types of influenza vaccine when given together with the pneumococcal vaccine or diphtheria/tetanus/acellular pertussis vaccine.
The seizures occur, by definition, without an intracranial infection or metabolic problems. They run in families. Several genetic associations have been identified. An association with iron deficiency has also been reported, particularly in the developing world.
It is unknown as to what causes abdominal epilepsy. While a causal relationship between seizure activity and the GI symptoms has not been proven, the GI symptoms cannot be explained by other pathophysiological mechanisms, and are seen to improve upon anticonvulsant treatment. Because the condition is so rare, no high-quality studies exist. There have been too few reported cases to identify risk factors, genetic factors, or other potential causes.
Most generalized epilepsy starts during childhood. While some patients outgrow their epilepsy during adolescence and no longer need medication, in others, the condition remains for life, thereby requiring lifelong medication and monitoring.
The International League Against Epilepsy (ILAE) define an epileptic seizure as "a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." Epileptic seizures can occur in someone who does not have epilepsy – as a consequence of head injury, drug overdose, toxins, eclampsia or febrile convulsions, for example.
Medically, when used on its own, the term seizure implies an epileptic seizure. The lay use of this word can also include sudden attacks of illness, loss of control, spasm or stroke. Where the physician is uncertain as to the diagnosis, the medical term paroxysmal event and the lay terms spells, funny turns or attacks may be used.
Generalized seizures can be either absence seizures, myoclonic seizures, clonic seizures, tonic-clonic seizures or atonic seizures.
Generalized seizures occur in various seizure syndromes, including myoclonic epilepsy, familial neonatal convulsions, childhood absence epilepsy, absence epilepsy, infantile spasms (West's syndrome), Juvenile Myoclonic Epilepsy and Lennox-Gastaut syndrome.
When functioning correctly, mains-powered fluorescent lighting has a flicker rate sufficiently high (twice the mains frequency, typically 100 Hz or 120 Hz) to reduce the occurrence of problems. However, a faulty fluorescent lamp can flicker at a much lower rate and trigger seizures. Newer high-efficiency compact fluorescent lamps (CFL) with electronic ballast circuits operate at much higher frequencies (10–20 kHz) not normally perceivable by the human eye, though defective lights can still cause problems.
The Job Accommodation Network lists reduction or elimination of fluorescent lighting as an appropriate accommodation for many conditions including epilepsy. The Canadian Department of Labour states that the newer lights are problematic for fewer people.
Like other forms of epilepsy, abdominal epilepsy is treated with anticonvulsant drugs, such as phenytoin. Since no controlled studies exist, however, other drugs may be equally effective.
Television has traditionally been the most common source of seizures in PSE. For people with PSE, it is especially hazardous to view television in a dark room, at close range, or when the television is out of adjustment and is showing a rapidly flickering image (as when the horizontal hold is incorrectly adjusted). Modern digital television sets that cannot be maladjusted in this way and refresh the image on the screen at very high speed present less of a risk than older television sets.
Some people with PSE, especially children, may exhibit an uncontrollable fascination with television images that trigger seizures, to such an extent that it may be necessary to physically keep them away from television sets. Some people (particularly those with cognitive impairments, although most people with PSE have no such impairments) self-induce seizures by waving their fingers in front of their eyes in front of bright light or by other means.
Some UK television broadcasters and studios now screen content through the "Harding FPA Test", an objective standard of assessment of potential to trigger seizures in the susceptible population.
In some cases, specific television programs featuring certain types of visual stimuli have provoked seizures in a small minority of television viewers, including some viewers with no prior history of seizures of any kind. The "Dennō Senshi Porygon" episode of "Pokémon" is the most frequently cited example (see "the Society and culture section," below); when the program was broadcast in Japan, its strong flickering scenes produced seizures in a surprising number of viewers, even though the proportion of viewers affected was extremely low.
The connection between migraines and epileptic seizures is currently being researched and not much is known. Patients have been shown to have had migraines long before developing epileptic symptoms, creating the possibility of severe cases of migraines creating epilepsy. However, not every migraine may be accompanied by a seizure and sometimes the seizures happen without any migraine involvement. Due to this, finding the origin of migralepsy is difficult and enveloped somewhere in the overlap between both conditions. Some patients have shown that their relatives suffered from migraines as well and even some from migralepsy, forming the possibility that migralepsy is genetic in origin and forms only rarely as both, generally resulting in only one condition or the other.
Since migralepsy is, for all intents and purposes, a combination of migraines and epilepsy, the medication for the conditions supplied individually can be combined jointly in order to lessen the effects of both. It is also helpful that many antiepileptic drugs also work as antimigraines, lessening the number of medications that must be taken. Thus, while neither can be cured, they can be treated so that they occur less frequently and allow a patient to live a relatively normal life.
Most children who develop epilepsy are treated conventionally with anticonvulsants. In about 70% of cases of childhood epilepsy, medication can completely control seizures. Unfortunately, medications come with an extensive list of side effects that range from mild discomfort to major cognitive impairment. Usually, the adverse cognitive effects are ablated following dose reduction or cessation of the drug.
Medicating a child is not always easy. Many pills are made only to be swallowed, which can be difficult for a child. For some medications, chewable versions do exist.
The ketogenic diet is used to treat children who have not responded successfully to other treatments. This diet is low in carbohydrates, adequate in protein and high in fat. It has proven successful in two thirds of epilepsy cases.
In some cases, severe epilepsy is treated with the hemispherectomy, a drastic surgical procedure in which part or all of one of the hemispheres of the brain is removed.
Ictal refers to a physiologic state or event such as a seizure, stroke, or headache. The word originates from the Latin "ictus", meaning a blow or a stroke. In electroencephalography (EEG), the recording during a seizure is said to be "ictal". The following definitions refer to the temporal relation with seizures.
Pre-ictal refers to the state immediately before the actual seizure, stroke, or headache, though it has recently come to light that some characteristics of this stage (such as visual auras) are actually the beginnings of the ictal state.
Post-ictal refers to the state shortly after the event.
Interictal refers to the period between seizures, or convulsions, that are characteristic of an epilepsy disorder. For most people with epilepsy, the interictal state corresponds to more than 99% of their life. The interictal period is often used by neurologists when diagnosing epilepsy since an EEG trace will often show small interictal spiking and other abnormalities known by neurologists as subclinical seizures. Interictal EEG discharges are those abnormal waveforms not associated with seizure symptoms.
Peri-ictal encompasses pre-ictal, ictal and post-ictal.
Incidence is around 1:3200 to 1:3500 of live births. Statistically, boys are more likely to be affected than girls at a ratio of around 1.3:1. In 9 out of every 10 children affected, the spasms appear for the first time between the third and the twelfth month of age. In rarer cases, spasms may occur in the first two months or during the second to fourth year of age.
It is not possible to make a generalised prognosis for development due to the variability of causes, as mentioned above, the differing types of symptoms and cause. Each case must be considered individually.
The prognosis for children with idiopathic West syndrome are mostly more positive than for those with the cryptogenic or symptomatic forms. Idiopathic cases are less likely to show signs of developmental problems before the attacks begin, the attacks can often be treated more easily and effectively and there is a lower relapse rate. Children with this form of the syndrome are less likely to go on to develop other forms of epilepsy; around two in every five children develop at the same rate as healthy children.
In other cases, however, treatment of West syndrome is relatively difficult and the results of therapy often dissatisfying; for children with symptomatic and cryptogenic West syndrome, the prognosis is generally not positive, especially when they prove resistant to therapy.
Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. Statistics show that treatment produces a satisfactory result in around three out of ten cases, with only one in every 25 children's cognitive and motoric development developing more or less normally.
A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of the causes behind them (cerebral anomalies or their location or degree of severity). Severe, frequent attacks can (further) damage the brain.
Permanent damage often associated with West syndrome in the literature include cognitive disabilities, learning difficulties and behavioural problems, cerebral palsy (up to 5 out of 10 children), psychological disorders and often autism (in around 3 out of 10 children). Once more, the cause of each individual case of West syndrome must be considered when debating cause and effect.
As many as 6 out of 10 children with West syndrome suffer from epilepsy later in life. Sometimes West syndrome turns into a focal or other generalised epilepsy. Around half of all children develop Lennox-Gastaut syndrome.
Benign familial infantile epilepsy (BFIE), also known as benign familial infantile seizures (BFIS) or benign familial infantile convulsions (BFIC) is an epilepsy syndrome. Affected children, who have no other health or developmental problems, develop seizures during infancy. These seizures have focal origin within the brain but may then spread to become generalised seizures. The seizures may occur several times a day, often grouped in clusters over one to three days followed by a gap of one to three months. Treatment with anticonvulsant drugs is not necessary but they are often prescribed and are effective at controlling the seizures. This form of epilepsy resolves after one or two years, and appears to be completely benign. The EEG of these children, between seizures, is normal. The brain appears normal on MRI scan.
A family history of epilepsy in infancy distinguishes this syndrome from the non-familial classification (see benign infantile epilepsy), though the latter may be simply sporadic cases of the same genetic mutations. The condition is inherited with an autosomal dominant transmission. There are several genes responsible for this syndrome, on chromosomes 2, 16 and 19. It is generally described as idiopathic, meaning that no other neurological condition is associated with it or causes it. However, there are some forms that are linked to neurological conditions. One variant known as infantile convulsions and choreoathetosis (ICCA) forms an association between BFIE and paroxysmal kinesigenic choreoathetosis and has been linked to the PRRT2 gene on chromosome 16. An association with some forms of familial hemiplegic migraine (FHM) has also been found. Benign familial infantile epilepsy is not genetically related to benign familial neonatal epilepsy (BFNE), which occurs in neonates. However, a variation with seizure onset between two days and seven months called "benign familial neonatal–infantile seizures" (BFNIS) has been described, which is due to a mutation in the SCN2A gene.
The use of hormone replacement therapy (HRT), to lessen the effects of menopause, has shown severe negative effects on the seizure patterns of women with catamenial epilepsy. During perimenopause, women with catamenial epilepsy generally experience an increase in seizure frequency, and HRT use does not change this likelihood. However HRT use after perimenopause has been significantly associated with an increase in seizure frequency and severity. Women progressing through peri- and post-menopause using HRT may be in greater need of anticonvulsant medication monitoring to maintain or reduce seizure occurrence. These same results have not been seen in laboratory counterparts. Adult female rats that have been ovariectomized, a parallel state to menopause, show increased seizure frequency overall. There are, however, several factors that could explain this difference, including ovariectomized rats do not have the analogous brain hormones milieu as menopausal women. Several studies following HRT use in women with catamenial epilepsy have demonstrated more influencable data than animal models, in this case.
Several treatment methods have been determined exclusively for women with catamenial epilepsy. A great majority of these therapies include progestagens (naturally occurring) or progestins (synthetic progestagen). Drug interactions are an important factor when using progesterone therapy, as many antiseizure medications augment hepatic metabolism of gonadal steroids, and increase serum protein binding to hormones. There are many unfortunate side effects frequently seen in progesterone therapy usage, including vaginal dryness, dyspareunia, osteoporosis, and cardiovascular disease.
- "Cyclic progesterone therapy" supplements the patient with natural progesterone during the luteal phase when progesterone is normally low, and gradually reduces the supplementation premenstrually.
- "Suppressive progestin therapy" intends to suppress the menstrual cycle entirely by using injectable progestins or gonadotropin-releasing hormones (GnRH). GnRH basically mimics an ovary-free environment in the female, which is characteristic of the lack of menstrual cycle during menopause.
Seizure frequency is reduced to four to six seizures per year. By this time, they are mentally and physically incapable to live without assistance due to the total mental degradation. Life expectancy is at least 50 years of age, which is shorter than the average worldwide age of 70.