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Epileptic spasms

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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.
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following three groups: genetic, structural/metabolic, and unknown. The new terms are more immediately clear in their meaning, except that the structural and metabolic group includes cases that have a genetic component that does not always directly lead to the condition. Only the genetic grouping has a known direct genetic cause. "Unknown" cases may be of
850:(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 have epilepsy later in life. Sometimes West syndrome turns into a focal or other generalised epilepsy. Around half of all children develop 862:
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 3:2. 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
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for treating infantile spams was inconsistent; most trials were as a second-line therapy after failure of drug treatment, and as of 2017 it had not been explored as a first line treatment in an adequately designed clinical trial. Epilepsy surgery is recommended in patients with seizures arising from
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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
236:: 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 Muslim ceremonial greeting ( 98:
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
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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
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Cases of epilepsy have been historically divided into three different groups: symptomatic, cryptogenic, and unknown. The International League Against Epilepsy (ILAE) in 2011 recommended abandoning these terms for reasons of clarity and instead trying to place individual cases into one of the
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The epileptic seizures 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:
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records for children with Down syndrome are often more symmetrical with fewer unusual findings. Although not all children can become entirely free from attacks with medication, children with Down syndrome are less likely to go on to develop
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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:
99:"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 in modern usage is the triad of infantile spasms, a 1050:
Goldberg-Stern et al., 2001 & Eisermann et al. 2003 in: American Journal of Medical Genetics part C, 2006, S. 163: Neurobehavioral disorders in children, adolescents and young adults with down syndrome
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The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes. The syndrome is often caused by an organic
879:. 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 631:, 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. 584:
abnormalities involved in Down syndrome. However, in children with Down syndrome, the syndrome is often far more mild, and the children often react better to medication. The
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Sherr EH (2003) The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr 15(6):567-571
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Gertler, T.; Bearden, D.; Bhattacharjee, A.; Carvill, G.; Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993).
327:(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. 815:
for development due to the variability of causes, as mentioned above, the differing types of symptoms and cause. Each case must be considered individually.
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Permanent damage often associated with West syndrome in the literature include cognitive disabilities, learning difficulties and behavioural problems,
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patterns. According to Infantile Spasms: Act Now, delays to diagnosis of more than 7 days increase life-long developmental impairment. In addition,
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medication. Statistics show that treatment produces a satisfactory result in around three out of ten cases, with only one in every 25 children's
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with long term use. The high cost of ACTH leads doctors to avoid it in the US; higher dose prednisone appears to generate equivalent outcomes.
926: 230:: Convulsions of the throat and neck flexor muscles, during which the chin is fitfully jerked towards the breast or the head is drawn inward. 1652: 510: 1785: 1446: 1358: 1059:
Bahi-Buisson N, Bienvenu T (2012) CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol 2(3-5):137-152
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It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is known to be a malfunction of
1760: 1733: 1439: 776: 400: 280: 169: 1017: 1795: 1710: 550: 1677: 110:), and developmental regression – although the international definition requires only two out of these three elements. 1765: 640: 761: 647:) genes. The ARX gene in particular seems to be responsible for at least some of the X linked cases. Variants in the 606:
If, however, a child with Down syndrome has seizures that are difficult to control, the child should be assessed for
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Mutations in several genes have been associated with West syndrome. These include the Aristaless related homeobox (
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When a direct cause cannot be determined but the child has other neurological disorder, the case is referred to as
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In around one third of the children, there is evidence of a profound organic disorder of the brain. This includes:
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convulsions of the entire body or several parts of the body in split seconds, and the legs in particular are bent (
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Sometimes multiple children within the same family develop West syndrome. In this case, it is also referred to as
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this refers to a disorder whose cause is hidden or occult. Cryptogenic epilepsies are presumed to be symptomatic.
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development developing more or less normally. A large proportion (up to 90%) of children experience severe
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As of 2017, data on optimal treatment was limited. Therapies with hormones is the standard of care, namely
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noted in 2003 that what was normally a serious epilepsy was in such cases often a relatively benign one.
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West syndrome. The cryptogenic group is often considered idiopathic while referred to as "cryptogenic".
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the epilepsy is the consequence of a known or suspected disorder of the central nervous system.
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Asano, E; Juhász, C; Shah, A; Muzik, O; Chugani, DC; Shah, J; Sood, S; Chugani, HT (2005).
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Regular development until the onset of the attacks or before the beginning of the therapy
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or other forms of epilepsy than those without additional hereditary material on the 21st
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transmission process. Another possibility being researched is a hyper-production of the
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Chugani, HT; Ilyas, M; Kumar, A; Juhász, C; Kupsky, WJ; Sood, S; Asano, E (2015).
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disorder in infants, children and adults. One of the other names of the disorder,
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Diagnosis can be made by EEG. In case of epileptic spasms, EEG shows typical
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there is no underlying cause other than a possible hereditary predisposition.
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Furthermore, other causes increasingly being named in the literature are:
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function, or more precisely, a malfunction in the regulation of the
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The remainder of this section will refer to the older terminology.
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Johnston, Michael V.; Adams, Harold P.; Fatemi, Ali (2016-08-18).
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the first two months or during the second to fourth year of age.
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West syndrome was named after the English doctor and surgeon
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West syndrome, when a cause cannot be determined. Important
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or brain damage of various types as well as that caused by
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If a cause presents itself, the syndrome is referred to as
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Wilmshurst JM, Ibekwe RC, O'Callaghan FJK (January 2017).
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The old terminology was defined by the ILAE as follows:
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genetic, structural, metabolic, or other unknown cause.
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http://www.ilae.org/Visitors/Centre/ctf/CTFoverview.cfm
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muscle convulsions here are generally more severe than
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KCNT1-Related Epilepsy - GeneReviews® - NCBI Bookshelf
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gene can also in rare cases result in West syndrome.
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The Treatment of Epilepsy: Principles & Practice
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Lachhwani (2006). 66: 29: 1258: 1209: 1152: 992:"NINDS Infantile Spasms Information Page" 811:It is not possible to make a generalised 799:Learn how and when to remove this message 423:Learn how and when to remove this message 303:Learn how and when to remove this message 192:Learn how and when to remove this message 88:, is in memory of the English physician, 1822:Citizens United for Research in Epilepsy 1424:Much of this article is translated from 904: 681:no evidence of a trigger for the spasms 643:) and cyclin dependent kinase like 5 ( 1106:"Infantile Spasms & West Syndrome" 1086:. University of Washington, Seattle. 549:(lack of oxygen, e.g. during birth), 7: 1739:Dentatorubral–pallidoluysian atrophy 777:adding citations to reliable sources 401:adding citations to reliable sources 281:adding citations to reliable sources 170:adding citations to reliable sources 1786:Sudden unexpected death in epilepsy 1716:Complex partial status epilepticus 1426:the German Knowledge (XXG) article 25: 1801:Psychogenic non-epileptic seizure 1673:Benign familial neonatal seizures 1625:Sleep-related hypermotor epilepsy 118:dysfunction whose origins may be 1202:10.1111/j.1528-1167.2005.05205.x 749: 586:German Down Syndrome Info Center 373: 253: 142: 893:Epilepsy Phenome/Genome Project 325:corticotropin-releasing hormone 1761:Early myoclonic encephalopathy 1734:Progressive myoclonus epilepsy 1: 1154:10.1016/j.seizure.2016.11.021 960:10.1016/S0140-6736(00)40184-4 1711:Epilepsia partialis continua 715:adrenocorticotrophic hormone 678:or neuroradiological studies 674:no pathological findings in 551:periventricular leukomalacia 529:congential infections (e.g. 1766:Juvenile myoclonic epilepsy 1744:Unverricht–Lundborg disease 1288:. Oxford University Press. 511:Foix–Chavany–Marie syndrome 234:Salaam or jackknife attacks 1904: 1683:Myoclonic astatic epilepsy 875:(1793–1848), who lived in 701:get their child evaluated 608:autistic spectrum disorder 1834:Epilepsy Action Australia 126:(caused during birth) or 1796:Landau–Kleffner syndrome 1630:Panayiotopoulos syndrome 1110:This Is Infantile Spasms 1080:"KCNT1-Related Epilepsy" 699:only 3 out of 10 parents 559:cerebrovascular accident 1678:Lennox–Gastaut syndrome 1560:Epilepsy and employment 1285:Neurobiology of Disease 852:Lennox-Gastaut syndrome 597:Lennox-Gastaut syndrome 526:neurometabolic diseases 80:is an uncommon-to-rare 1610:Temporal lobe epilepsy 1530:Electroencephalography 705:of seeing the spasms. 506:Incontinentia pigmenti 1615:Frontal lobe epilepsy 980:. Ole Daniel Enersen. 837:cognitive impairments 737:a restricted region. 522:Sturge–Weber syndrome 1851:Epilepsy Research UK 1635:Vertiginous epilepsy 1555:Epilepsy and driving 1506:Epilepsy in children 998:on December 13, 2016 942:West, W. J. (1841). 773:improve this section 541:brain damage due to 397:improve this section 277:improve this section 166:improve this section 1839:Epilepsy Foundation 1806:Epilepsy in animals 1486:Aura (warning sign) 665:diagnostic criteria 1726:Myoclonic epilepsy 1703:Status epilepticus 1396:External resources 873:William James West 478:tuberous sclerosis 453:cortical dysplasia 134:Signs and symptoms 90:William James West 1865: 1864: 1779:Related disorders 1774: 1773: 1620:Rolandic epilepsy 1419: 1418: 1251:10.1111/epi.13221 974:"West's syndrome" 928:978-0-7817-4995-4 809: 808: 801: 727:visual field loss 433: 432: 425: 313: 312: 305: 212:: Sudden, severe 210:Lightning attacks 202: 201: 194: 75: 74: 27:Medical condition 16:(Redirected from 1895: 1856:Epilepsy Society 1845:Epilepsy Outlook 1688:Epileptic spasms 1600:Gelastic seizure 1575: 1501:Neonatal seizure 1456: 1449: 1442: 1433: 1312: 1300: 1299: 1279: 1273: 1272: 1262: 1230: 1224: 1223: 1213: 1181: 1175: 1174: 1156: 1138: 1129: 1114: 1113: 1102: 1096: 1095: 1075: 1069: 1066: 1060: 1057: 1051: 1048: 1042: 1037: 1031: 1030: 1028: 1027: 1022: 1014: 1008: 1007: 1005: 1003: 994:. 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Index

West Syndrome
Specialty
Neurology
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epileptic
William James West
The Lancet
pathognomonic
EEG
hypsarrhythmia
brain
prenatal
perinatal
postnatal

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myoclonic
flexor
extensor
Salaam

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