West syndrome
Encyclopedia
West syndrome or West's Syndrome is an uncommon to rare epileptic disorder in infants. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancet
in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile Myoclonic Encephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome is the triad of infantile spasms, a pathognomonic
EEG
pattern (called hypsarrhythmia
), and mental retardation
- although the international definition requires only two out of these three elements.
The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused by an organic brain
dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal
.
function, or more precisely, a malfunction in the regulation of the GABA
transmission process. Another possibility being researched is a hyper-production of the Corticotropin-releasing hormone
(CRH). It is possible that more than one factor is involved. Both hypotheses are supported by the effect of certain medications used to treat West syndrome.
abnormalities involved in Down's syndrome. However, in children with Down's syndrome, the syndrome is often far more mild, and the children often react better to medication. The German Down Syndrom InfoCenter noted in 2003 that what was normally a serious epilepsy was in such cases often a relatively benign one.
EEG
records for children with Down's syndrome are often more symmetrical with fewer unusual findings. Although not all children can become entirely free from attacks with medication, children with Down's syndrome are less likely to go on to develop Lennox-Gastaut syndrome
or other forms of epilepsy than those without additional hereditary material on the 21st chromosome
. The reason why it is easier to treat children with Down's syndrome is not known.
If, however, a child with Down's syndrome has seizures that are difficult to control, the child is at risk to develop an autistic spectrum disorder.
West syndrome, where an underlying cause is most likely but, even with modern means, cannot be detected. Currently the cryptogenic group is often combined with idiopathic while referred to as "cryptogenic".
Sometimes multiple children within the same family develop West syndrome. In this case it is also referred to as cryptogenic, in which genetic and sometimes hereditary influences play a role. There are known cases in which West syndrome appears in successive generations in boys; this has to do with X-chromosomal heredity.
Those are becoming rare due to modern medicine.
Insufficient research has yet been carried out into whether the form of treatment has an effect upon the long-term prognosis. Based on what is known today, the prognosis depends mainly on the cause of the attacks and the length of time that hypsarrhythmia
lasts. In general it can be said that the prognosis is worse when the patient does not react as well to therapy and the epileptic over-activity in the brain continues. Treatment differs in each individual case and depends on the cause of the West syndrome (etiological classification) and the state of brain development at the time of the damage.
Due to their side-effects, two drugs are currently being used as the first-line treatment: ACTH and Vigabatrin.
Vigabatrin is known for being effective, especially in children with tuberous sclerosis
, with few and benign side effects. But due to some recent studies showing visual field constriction (loss of peripheral vision), it was not approved in the United States until mid-2009. It is currently debated that a short use (6 months or less) of Vigabatrin will not affect vision. Also, considering the effect of frequent seizures on day to day life and mental development, some parents prefer to take the risk of some vision loss.
(Topamax), lamotrigine
(Lamictal), levetiracetam (Keppra) and zonisamide
(Zonegran) are amongst those drugs most widely used.
The ketogenic diet
has been shown to be effective in treating infantile spams, up to 70% of children having a 50% or more reduction in seizure.
for development due to the variability of causes, as mentioned above, the differing types of symptoms and etiology. 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 etiology 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
.
. In 1841 he observed this type of epilepsy in his own son, James E West, who was approximately four months old at the time. He published his observations from a scientific perspective in an article in The Lancet
. He named the seizures "Salaam Tics" at the time.
being sent around the world, centering particularly on high-profile web
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and Mike Krahulik
of Penny Arcade
who will be bringing one of the bunnies to their PAX
entertainment expo as well as Tim Buckley from Ctrl-Alt-Del
The Lancet
The Lancet is a weekly peer-reviewed general medical journal. It is one of the world's best known, oldest, and most respected general medical journals...
in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile Myoclonic Encephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome is the triad of infantile spasms, a pathognomonic
Pathognomonic
Pathognomonic is a term, often used in medicine, that means characteristic for a particular disease. A pathognomonic sign is a particular sign whose presence means that a particular disease is present beyond any doubt...
EEG
EEG
EEG commonly refers to electroencephalography, a measurement of the electrical activity of the brain.EEG may also refer to:* Emperor Entertainment Group, a Hong Kong-based entertainment company...
pattern (called hypsarrhythmia
Hypsarrhythmia
Hypsarrhythmia is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram , frequently encountered in an infant diagnosed with infantile spasms, although it can be found in other...
), and mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
- although the international definition requires only two out of these three elements.
The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused by an organic brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal
Postnatal
Postnatal is the period beginning immediately after the birth of a child and extending for about six weeks. Another term would be postpartum period, as it refers to the mother...
.
Prevalence
Prevalence 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 56:44. In 45 out of every 50 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.Causes
It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is conjectured that it is a malfunction of neurotransmitterNeurotransmitter
Neurotransmitters are endogenous chemicals that transmit signals from a neuron to a target cell across a synapse. Neurotransmitters are packaged into synaptic vesicles clustered beneath the membrane on the presynaptic side of a synapse, and are released into the synaptic cleft, where they bind to...
function, or more precisely, a malfunction in the regulation of the GABA
Gamma-aminobutyric acid
γ-Aminobutyric acid is the chief inhibitory neurotransmitter in the mammalian central nervous system. It plays a role in regulating neuronal excitability throughout the nervous system...
transmission process. Another possibility being researched is a hyper-production of the Corticotropin-releasing hormone
Corticotropin-releasing hormone
Corticotropin-releasing hormone , originally named corticotropin-releasing factor , and also called corticoliberin, is a polypeptide hormone and neurotransmitter involved in the stress response...
(CRH). It is possible that more than one factor is involved. Both hypotheses are supported by the effect of certain medications used to treat West syndrome.
Symptomatic
If a cause presents itself, the syndrome is referred to as symptomatic West syndrome, as the attacks manifest as a symptom of another problem. Almost any cause of brain damage could be associated, and these are divided into prenatal, perinatal, and post-natal. The following is a partial list:- In around one third of the children, there is evidence of a profound organic disorder of the brain. This includes:
- microcephalyMicrocephalyMicrocephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
- cortical dysplasiaCortical dysplasiaCortical dysplasia is a congenital abnormality where the neurons in an area of the brain failed to migrate in the proper formation in utero. Occasionally neurons will develop that are larger than normal in certain areas. This causes the signals sent through the neurons in these areas to misfire,...
- cerebral atrophyCerebral atrophyCerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them...
- lissencephalyLissencephalyLissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds and grooves . It is a form of cephalic disorder...
- bacterial meningitisMeningitisMeningitis is inflammation of the protective membranes covering the brain and spinal cord, known collectively as the meninges. The inflammation may be caused by infection with viruses, bacteria, or other microorganisms, and less commonly by certain drugs...
- phakomatoses (e.g. tuberous sclerosisTuberous sclerosisTuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
) - Aicardi syndromeAicardi syndromeAicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms...
- cephalhematomaCephalhematomaA cephalohematoma or cephalohaematoma is a hemorrhage of blood between the skull and the periosteum of a newborn baby secondary to rupture of blood vessels crossing the periosteum...
and - vascularBlood vesselThe blood vessels are the part of the circulatory system that transports blood throughout the body. There are three major types of blood vessels: the arteries, which carry the blood away from the heart; the capillaries, which enable the actual exchange of water and chemicals between the blood and...
malformation.
- microcephaly
- Furthermore, other causes increasingly being named in the literature are:
- Incontinentia pigmentiIncontinentia pigmentiIncontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
- Foix-Chavany-Marie syndromeFoix-Chavany-Marie syndromeFoix-Chavany-Marie syndrome, also known as bilateral anterior opercular syndrome is a partial paralysis of the face, pharynx and jaw caused by bilateral damage to a specific region of the brain, the operculum. It was described in 1926 by Charles Foix, Jean Alfred Émile Chavany and Julien Marie in...
- Patau syndromePatau syndromePatau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations...
(trisomy 13) - Sturge-Weber syndromeSturge-Weber syndromeSturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal...
- neurometabolic diseases
- congential infections (e.g. CytomegalovirusCytomegalovirusCytomegalovirus is a viral genus of the viral group known as Herpesviridae or herpesviruses. It is typically abbreviated as CMV: The species that infects humans is commonly known as human CMV or human herpesvirus-5 , and is the most studied of all cytomegaloviruses...
) - hypoglycemiaHypoglycemiaHypoglycemia or hypoglycæmia is the medical term for a state produced by a lower than normal level of blood glucose. The term literally means "under-sweet blood"...
- brain damage due to asphyxiation or hypoxiaHypoxia (medical)Hypoxia, or hypoxiation, is a pathological condition in which the body as a whole or a region of the body is deprived of adequate oxygen supply. Variations in arterial oxygen concentrations can be part of the normal physiology, for example, during strenuous physical exercise...
(lack of oxygen, e.g. during birth), periventricular leukomalaciaPeriventricular leukomalaciaPeriventricular leukomalacia is a form of white-matter brain injury, characterized by the necrosis of white matter near the lateral ventricles. It can affect newborns and fetuses; premature infants are at the greatest risk of the disorder...
, cephalhematomaCephalhematomaA cephalohematoma or cephalohaematoma is a hemorrhage of blood between the skull and the periosteum of a newborn baby secondary to rupture of blood vessels crossing the periosteum...
, cerebrovascular accidentStrokeA stroke, previously known medically as a cerebrovascular accident , is the rapidly developing loss of brain function due to disturbance in the blood supply to the brain. This can be due to ischemia caused by blockage , or a hemorrhage...
or brain damage of various types as well as that caused by premature birthPremature birthIn humans preterm birth refers to the birth of a baby of less than 37 weeks gestational age. The cause for preterm birth is in many situations elusive and unknown; many factors appear to be associated with the development of preterm birth, making the reduction of preterm birth a challenging...
.
- Incontinentia pigmenti
- There are known cases in which the spasms occurred for the first time after vaccination against MeaslesMeaslesMeasles, also known as rubeola or morbilli, is an infection of the respiratory system caused by a virus, specifically a paramyxovirus of the genus Morbillivirus. Morbilliviruses, like other paramyxoviruses, are enveloped, single-stranded, negative-sense RNA viruses...
, MumpsMumpsMumps is a viral disease of the human species, caused by the mumps virus. Before the development of vaccination and the introduction of a vaccine, it was a common childhood disease worldwide...
and RubellaRubellaRubella, commonly known as German measles, is a disease caused by the rubella virus. The name "rubella" is derived from the Latin, meaning little red. Rubella is also known as German measles because the disease was first described by German physicians in the mid-eighteenth century. This disease is...
or TetanusTetanusTetanus is a medical condition characterized by a prolonged contraction of skeletal muscle fibers. The primary symptoms are caused by tetanospasmin, a neurotoxin produced by the Gram-positive, rod-shaped, obligate anaerobic bacterium Clostridium tetani...
, PertussisPertussisPertussis, also known as whooping cough , is a highly contagious bacterial disease caused by Bordetella pertussis. Symptoms are initially mild, and then develop into severe coughing fits, which produce the namesake high-pitched "whoop" sound in infected babies and children when they inhale air...
, DiphtheriaDiphtheriaDiphtheria is an upper respiratory tract illness caused by Corynebacterium diphtheriae, a facultative anaerobic, Gram-positive bacterium. It is characterized by sore throat, low fever, and an adherent membrane on the tonsils, pharynx, and/or nasal cavity...
, Polio, Hepatitis B and Haemophilus influenzaeHaemophilus influenzaeHaemophilus influenzae, formerly called Pfeiffer's bacillus or Bacillus influenzae, Gram-negative, rod-shaped bacterium first described in 1892 by Richard Pfeiffer during an influenza pandemic. A member of the Pasteurellaceae family, it is generally aerobic, but can grow as a facultative anaerobe. H...
Type B. However, there is no causal relationship between immunization and West syndrome, since stress of any kind is a common trigger for seizures, and the immunization occurs during the time-frame in which many typical cases become conspicuous.
West syndrome in babies with Down's syndrome
West syndrome appears in 1% to 5% of infants with Down's syndrome. This form of epilepsy is relatively difficult to treat in children who do not have the chromosomalChromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
abnormalities involved in Down's syndrome. However, in children with Down's syndrome, the syndrome is often far more mild, and the children often react better to medication. The German Down Syndrom InfoCenter noted in 2003 that what was normally a serious epilepsy was in such cases often a relatively benign one.
EEG
Electroencephalography
Electroencephalography is the recording of electrical activity along the scalp. EEG measures voltage fluctuations resulting from ionic current flows within the neurons of the brain...
records for children with Down's syndrome are often more symmetrical with fewer unusual findings. Although not all children can become entirely free from attacks with medication, children with Down's syndrome are less likely to go on to develop Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
Lennox–Gastaut syndrome , also known as Lennox syndrome, is a difficult-to-treat form of childhood-onset epilepsy that most often appears between the second and sixth year of life, and is characterized by frequent seizures and different seizure types; it is often accompanied by developmental delay...
or other forms of epilepsy than those without additional hereditary material on the 21st chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
. The reason why it is easier to treat children with Down's syndrome is not known.
If, however, a child with Down's syndrome has seizures that are difficult to control, the child is at risk to develop an autistic spectrum disorder.
Cryptogenic
When a direct cause cannot be determined but the child has other neurological disorder, the case is referred to as cryptogenicCryptogenic disease
A cryptogenic disease is a disease of which the cause is unknown. It may be used in a particular case, when the nature of the patient's condition is known but the cause has not been found . The word cryptogenic also appears in the names of some disease entities, when the situation is sufficiently...
West syndrome, where an underlying cause is most likely but, even with modern means, cannot be detected. Currently the cryptogenic group is often combined with idiopathic while referred to as "cryptogenic".
Sometimes multiple children within the same family develop West syndrome. In this case it is also referred to as cryptogenic, in which genetic and sometimes hereditary influences play a role. There are known cases in which West syndrome appears in successive generations in boys; this has to do with X-chromosomal heredity.
Idiopathic
Occasionally the syndrome is referred to as idiopathic West syndrome, when a cause cannot be determined. Important diagnostic criteria are:- Regular development until the onset of the attacks or before the beginning of the therapy
- no pathological findings in neurological or neuroradiological studies
- no evidence of a trigger for the spasms
Those are becoming rare due to modern medicine.
Clinical presentation
The epileptic seizures which can be observed in infants with West syndrome fall into three categories, collectively known as infantile spasms. Typically, the following triad of attack types appears; while the three types usually appear simultaneously, they also can occur independently of each other:- Lightning attacks: Sudden, severe myoclonic convulsions of the entire body or several parts of the body in split seconds, and the legs in particular are bent (flexorFlexionIn anatomy, flexion is a position that is made possible by the joint angle decreasing. The skeletal and muscular systems work together to move the joint into a "flexed" position. For example the elbow is flexed when the hand is brought closer to the shoulder...
muscle convulsions here are generally more severe than extensorExtension (kinesiology)In kinesiology, extension is a movement of a joint that results in increased angle between two bones or body surfaces at a joint. Extension usually results in straightening of the bones or body surfaces involved. For example, extension is produced by extending the flexed elbow. Straightening of...
ones). - Nodding attacks: Convulsions of the throat and neck flexor muscles, during which the chin is fitfully jerked towards the breast or the head is drawn inward.
- Salaam or jackknife attacks: a flexor spasm with rapid bending of the head and torso forward and simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing. If one imagined this act in slow motion, it would appear similar to the oriental ceremonial greeting (Salaam), from which this type of attack derives its name.
Therapy
Compared with other forms of epilepsy, West syndrome is difficult to treat. To raise the chance of successful treatment and keep down the risk of longer-lasting effects, it is very important that the condition is diagnosed as early as possible and that treatment begins straight away. However, there is no guarantee that therapy will work even in this case.Insufficient research has yet been carried out into whether the form of treatment has an effect upon the long-term prognosis. Based on what is known today, the prognosis depends mainly on the cause of the attacks and the length of time that hypsarrhythmia
Hypsarrhythmia
Hypsarrhythmia is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram , frequently encountered in an infant diagnosed with infantile spasms, although it can be found in other...
lasts. In general it can be said that the prognosis is worse when the patient does not react as well to therapy and the epileptic over-activity in the brain continues. Treatment differs in each individual case and depends on the cause of the West syndrome (etiological classification) and the state of brain development at the time of the damage.
Due to their side-effects, two drugs are currently being used as the first-line treatment: ACTH and Vigabatrin.
ACTH
- ACTH - Use primarily in United States
- Side effects are: Weight gainWeight gainWeight gain is an increase in body weight. This can be either an increase in muscle mass, fat deposits, or excess fluids such as water.-Description:...
, especially in the trunk and face, hypertensionHypertensionHypertension or high blood pressure is a cardiac chronic medical condition in which the systemic arterial blood pressure is elevated. What that means is that the heart is having to work harder than it should to pump the blood around the body. Blood pressure involves two measurements, systolic and...
, metabolic abnormalities, severe irritability, osteoporosisOsteoporosisOsteoporosis is a disease of bones that leads to an increased risk of fracture. In osteoporosis the bone mineral density is reduced, bone microarchitecture is deteriorating, and the amount and variety of proteins in bone is altered...
, sepsisSepsisSepsis is a potentially deadly medical condition that is characterized by a whole-body inflammatory state and the presence of a known or suspected infection. The body may develop this inflammatory response by the immune system to microbes in the blood, urine, lungs, skin, or other tissues...
, and congestive heart failureCongestive heart failureHeart failure often called congestive heart failure is generally defined as the inability of the heart to supply sufficient blood flow to meet the needs of the body. Heart failure can cause a number of symptoms including shortness of breath, leg swelling, and exercise intolerance. The condition...
.
- Side effects are: Weight gain
Vigabatrin
- VigabatrinVigabatrinVigabatrin is an antiepileptic drug that inhibits the catabolism of gamma-aminobutyric acid by irreversibly inhibiting GABA transaminase. It is an analog of GABA, but it is not a receptor agonist...
(Sabril) - Approved in several countries, including most of Europe, Canada, Mexico, and more recently the United States.- Side effects are: SomnolenceSomnolenceSomnolence is a state of near-sleep, a strong desire for sleep, or sleeping for unusually long periods . It has two distinct meanings, referring both to the usual state preceding falling asleep, and the chronic condition referring to being in that state independent of a circadian rhythm...
, headacheHeadacheA headache or cephalalgia is pain anywhere in the region of the head or neck. It can be a symptom of a number of different conditions of the head and neck. The brain tissue itself is not sensitive to pain because it lacks pain receptors. Rather, the pain is caused by disturbance of the...
, dizzinessDizzinessDizziness refers to an impairment in spatial perception and stability. The term is somewhat imprecise. It can be used to mean vertigo, presyncope, disequilibrium, or a non-specific feeling such as giddiness or foolishness....
, fatigue, weight gainWeight gainWeight gain is an increase in body weight. This can be either an increase in muscle mass, fat deposits, or excess fluids such as water.-Description:...
, decreased vision or other vision changes
- Side effects are: Somnolence
Vigabatrin is known for being effective, especially in children with tuberous sclerosis
Tuberous sclerosis
Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
, with few and benign side effects. But due to some recent studies showing visual field constriction (loss of peripheral vision), it was not approved in the United States until mid-2009. It is currently debated that a short use (6 months or less) of Vigabatrin will not affect vision. Also, considering the effect of frequent seizures on day to day life and mental development, some parents prefer to take the risk of some vision loss.
Other
When those two are proving ineffective, other drugs may be used in conjunction or alone. From those, corticosteroids (prednisone) are often used. In Japan, there is a good experience with pyridoxine therapy. Further, topiramateTopiramate
Topiramate is an anticonvulsant drug. It was originally produced by Ortho-McNeil Neurologics and Noramco, Inc., both divisions of the Johnson & Johnson Corporation. This medication was discovered in 1979 by Bruce E. Maryanoff and Joseph F. Gardocki during their research work at McNeil...
(Topamax), lamotrigine
Lamotrigine
Lamotrigine, marketed in the US and most of Europe as Lamictal by GlaxoSmithKline, is an anticonvulsant drug used in the treatment of epilepsy and bipolar disorder. It is also used as an adjunct in treating depression, though this is considered off-label usage...
(Lamictal), levetiracetam (Keppra) and zonisamide
Zonisamide
Zonisamide is a sulfonamide anticonvulsant approved for use as an adjunctive therapy in adults with partial-onset seizures for adults; infantile spasm, mixed seizure types of Lennox-Gastaut syndrome, myoclonic, and generalized tonic clonic seizure.-History:...
(Zonegran) are amongst those drugs most widely used.
The ketogenic diet
Ketogenic diet
The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet that in medicine is used primarily to treat difficult-to-control epilepsy in children. The diet mimics aspects of starvation by forcing the body to burn fats rather than carbohydrates...
has been shown to be effective in treating infantile spams, up to 70% of children having a 50% or more reduction in seizure.
Prognosis
It is not possible to make a generalised prognosisPrognosis
Prognosis is a medical term to describe the likely outcome of an illness.When applied to large statistical populations, prognostic estimates can be very accurate: for example the statement "45% of patients with severe septic shock will die within 28 days" can be made with some confidence, because...
for development due to the variability of causes, as mentioned above, the differing types of symptoms and etiology. 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
Cognition
In science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...
and motoric
Motor system
The motor system is the part of the central nervous system that is involved with movement. It consists of the pyramidal and extrapyramidal system....
development developing more or less normally.
A large proportion (up to 90%) of children suffer severe physical
Physical disability
A physical disability is any impairment which limits the physical function of one or more limbs or fine or gross motor ability. Other physical disabilities include impairments which limit other facets of daily living, such as respiratory disorders and epilepsy....
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
Cerebral palsy
Cerebral palsy is an umbrella term encompassing a group of non-progressive, non-contagious motor conditions that cause physical disability in human development, chiefly in the various areas of body movement....
(up to 5 out of 10 children), psychological disorders and often autism
Autism
Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their...
(in around 3 out of 10 children). Once more, the etiology 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
Lennox-Gastaut syndrome
Lennox–Gastaut syndrome , also known as Lennox syndrome, is a difficult-to-treat form of childhood-onset epilepsy that most often appears between the second and sixth year of life, and is characterized by frequent seizures and different seizure types; it is often accompanied by developmental delay...
.
History
West syndrome was named after the English doctor and surgeon William James West (1793–1848), who lived in TonbridgeTonbridge
Tonbridge is a market town in the English county of Kent, with a population of 30,340 in 2007. It is located on the River Medway, approximately 4 miles north of Tunbridge Wells, 12 miles south west of Maidstone and 29 miles south east of London...
. In 1841 he observed this type of epilepsy in his own son, James E West, who was approximately four months old at the time. He published his observations from a scientific perspective in an article in The Lancet
The Lancet
The Lancet is a weekly peer-reviewed general medical journal. It is one of the world's best known, oldest, and most respected general medical journals...
. He named the seizures "Salaam Tics" at the time.
Community Awareness Campaign
A community awareness campaign named Marissa's Bunny has been launched to raise the profile of the syndrome.http://marissasbunny.com/ The campaign centres around a trio of stuffed rabbitsStuffed animal
A stuffed toy is a toy sewn from cloth, plush, or other textiles, and stuffed with straw, beans, plastic pellets, cotton, synthetic fibres, or other similar materials. Stuffed toys are also known as plush toys A stuffed toy is a toy sewn from cloth, plush, or other textiles, and stuffed with straw,...
being sent around the world, centering particularly on high-profile web
World Wide Web
The World Wide Web is a system of interlinked hypertext documents accessed via the Internet...
personalities, including Jerry Holkins
Jerry Holkins
Keith Gerald "Jerry" Holkins né Parkinson is the writer of the webcomic Penny Arcade and co-founder of Child's Play, a multimillion dollar charity that organizes toy drives for children's hospitals...
and Mike Krahulik
Mike Krahulik
Mike Krahulik is the artist for the popular webcomic Penny Arcade and co-founder with Jerry Holkins of Child's Play, a multimillion dollar charity that organizes toy drives for children's hospitals. He goes by the online moniker "Jon Gabriel" or "Gabe"...
of Penny Arcade
Penny Arcade (webcomic)
Penny Arcade is a webcomic focused on video games and video game culture, written by Jerry Holkins and illustrated by Mike Krahulik. The comic debuted in 1998 on the website loonygames.com. Since then, Holkins and Krahulik have established their own site, which is typically updated with a new comic...
who will be bringing one of the bunnies to their PAX
Penny Arcade Expo
The Penny Arcade Expo is a semi-annual gamer festival held in Seattle and Boston. PAX was created by Jerry Holkins and Mike Krahulik, the authors of the Penny Arcade webcomic, because they wanted to attend a show that gave equal attention to console gamers, computer gamers, and tabletop...
entertainment expo as well as Tim Buckley from Ctrl-Alt-Del
See also
- Epilepsy Phenome/Genome ProjectEpilepsy Phenome/Genome ProjectThe Epilepsy Phenome/Genome Project is a government-funded study to identify genes that influence the development of epilepsy and genes that affect the response to treatment. The study involves 25 major epilepsy centers and more than 150 scientists and clinical staff around the United States,...