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Infantile epileptic spasms syndrome

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Epileptic spasms
Other namesInfantile spasms, Juvenile spasms, or West syndrome[1]
SpecialtyNeurology Edit this on Wikidata

West syndrome is an epileptic encephalopathy, a severe childhood epilepsy syndrome arising in infancy,[2] usually as a complication of various other medical conditions.[3] It is clinically defined by the occurrence of infantile spasms in association with characteristic EEG pattern findings (hypsarrhythmia), and cognitive delay or deterioration.[2][3] The spasms are usually resistant to conventional antiepileptic pharmacotherapy. They may persist beyond infancy, or, rarely, commence only later in childhood.[2]

West syndrome is commonly classified as symptomatic when a potential cause cause be identified, and as cryptogenic if otherwise (though these designations are used inconsistently).[2] A specific cause can be identified in ~70-75%. Any condition that may cause cerebral insult may give rise to West syndrome. Causes range from genetic disorders, infections, congenital malformations, malnutrition, to brain trauma. The most commonly identified common cause is tuberous sclerosis.[3]

West syndrome is named for the English physician William James West who was first to describe the condition in an article in The Lancet in 1841[4] based on observations of the condition in his son.[5]

Terminology

The term infantile spasms is used to designate the characteristic seizures seen in West syndrome. Infantile spasms may however also occur outside of West syndrome (that is, in the absence of hyperarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).[2] When such seizures are present in later life, they are designated epileptic spasms. Nevertheless, revised terminology of the International League Against Epilepsy recommends that the distinction be abandoned and that both infantile and epileptic seizures be referred to as epileptic spasms.[3]

Signs and symptoms

Epileptic spasms

The epileptic seizures observed in infants with West syndromefall 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:[citation needed]

  • 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 (flexor muscle convulsions here are generally more severe than extensor 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 Muslim ceremonial greeting (Salaam), from which this type of attack derives its name.

Neurocognitive and developmental

The onset of epileptic spasms is often associated with autistic withdrawal, and loss of social smiling and of visual attention. Nevertheless, developmental delay is noted in up to 70% of persons with West syndrome even before the onset of spasms.[2]

Causes

Based on aetiology, cases of West syndrome are commonly classified as either symptomatic or cryptogenic - although these terms have not been used consistently. Symptomatic cases are most often defined as those in which a clear cause can be identified, though some investigators also use the designation in cases in which there was previous clinical or imaging evidence of brain lesions and/or abnormal development was noted prior to the onset of the syndrome. Cryptogenic cases are thus contrastingly defined as those in which no specific cause can be identified, or where no such lesions or abnormalities were noted prior to syndrome onset.[2]

Symptomatic

Down syndrome

West syndrome appears in 1% to 5% of infants with Down syndrome. West syndrome in those with Down syndrome is milder, more responsive to treatment (due to unknown reasons), and less likely to evolve into Lennox-Gastaut syndrome or other forms of epilepsy.[citation needed] A child with Down syndrome presenting with seizures that are difficult to control should be assessed for autistic spectrum disorder.[6][verification needed]

Genetic

Mutations in several genes have been associated with West syndrome. These include the Aristaless related homeobox (ARX) and cyclin dependent kinase like 5 (CDKL5) genes.[7] The ARX gene in particular seems to be responsible for at least some of the X linked cases.[8] Variants in the KCNT1 gene can also in rare cases result in West syndrome.[9]

Diagnosis

Diagnosis can be made by EEG. In case of epileptic spasms, EEG shows typical hypsarrhythmia patterns.[citation needed] According to Infantile Spasms: Act Now, delays to diagnosis of more than 7 days increase life-long developmental impairment. In addition, only 3 out of 10 parents get their child evaluated within 1 week of seeing the spasms.[10]

Treatment

There is limited evidence as to which available treatment modality is optimal. Hormones therapy is the standard of care, namely adrenocorticotrophic hormone (ACTH), or oral corticosteroids such as prednisone (with the two treatments apparently producing equivalent outcomes). ACTH therapy is cost-prehibitive in the US.[11]

Therapy with vigabatrin is also commonly undertaken (though long-term use is associated with a risk of visual field loss).[11]

Evidence from clinical trials for treatment with ketogenic diet is inconsistent; most trials evaluated it as second-line therapy after failure of drug treatment, and, as of 2017, it had not been investigated as first-line treatment in an adequately designed clinical trial.[11]

Epilepsy surgery is recommended in patients with seizures arising from a restricted region.[12][13]

Prognosis

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.[citation needed]

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.[citation needed]

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 experience severe physical and cognitive impairments, even when treatment for the seizures is successful. This is not usually because of the epileptic seizures, 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.[citation needed]

Seizures

In about one quarter to one third of children with West syndrome, seizures will subside completely with time; such resolution is more common among those with cryptogenic West syndrome. In another third, the characteristic epilepstic spasms of West syndrome will persist in later life. Finally, a third will develop experience a deterioration with the appearance of additional recalcitrant seizure types - often evolving into Lennox–Gastaut syndrome.[3]

Complications

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 have epilepsy later in life. Sometimes West syndrome turns into a focal or other generalised epilepsy. Around half of all children develop Lennox-Gastaut syndrome.[citation needed]

Autism

From 10% to 35% of children with infantile spasms are eventually recognised as autistic. Autism may arise more frequently in those with bilateral temporal lobe epileptic foci. The aetiology of infantile spasms-associated autism may be idiopathic, or an additional comorbidity that itself better explains the autism may be identified. It is believed that early aggressive treatment of infantile spasms can often prevent the later development of autistic features, or lessen their severity.[14]

Epidemiology

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.[15] 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.[citation needed]

History

West syndrome was named after the English doctor and surgeon William James West (1793–1848), who lived in Tonbridge. 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.[citation needed]

See also

References

  1. ^ Elaine Wyllie; Ajay Gupta; Deepak K. Lachhwani (2006). The Treatment of Epilepsy: Principles & Practice (4th ed.). Lippincott Williams & Wilkins. pp. 333–. ISBN 978-0-7817-4995-4.
  2. ^ a b c d e f g Shorvon, S. D.; Guerrini, Renzo; Cook, Mark; Lhatoo, Samden D., eds. (2013). Oxford Textbook of Epilepsy and Epileptic Seizures. Oxford Textbooks in Clinical Neurology. Oxford, United Kingdom: Oxford University Press. pp. 63, 177–179. ISBN 978-0-19-965904-3. OCLC 806014746.
  3. ^ a b c d e f g h i j k l m n o p q r s t "West Syndrome - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2024-09-28.
  4. ^ West, W. J. (1841). "On a Peculiar Form of Infantile Convulsions". The Lancet. 35 (911): 724–725. doi:10.1016/S0140-6736(00)40184-4.
  5. ^ "West's syndrome". Whonamedit? A dictionary of medical eponyms. Ole Daniel Enersen.
  6. ^ 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
  7. ^ Bahi-Buisson N, Bienvenu T (2012) CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol 2(3-5):137-152
  8. ^ 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
  9. ^ 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). "KCNT1-Related Epilepsy". KCNT1-Related Epilepsy - GeneReviews® - NCBI Bookshelf. University of Washington, Seattle. PMID 30234941.
  10. ^ "Infantile Spasms & West Syndrome". This Is Infantile Spasms.
  11. ^ a b c Wilmshurst JM, Ibekwe RC, O'Callaghan FJK (January 2017). "Epileptic spasms - 175 years on: Trying to teach an old dog new tricks" (PDF). Seizure. 44: 81–86. doi:10.1016/j.seizure.2016.11.021. PMID 27989601. S2CID 4977080.
  12. ^ Asano, E; Juhász, C; Shah, A; Muzik, O; Chugani, DC; Shah, J; Sood, S; Chugani, HT (2005). "Origin and propagation of epileptic spasms delineated on electrocorticography". Epilepsia. 46 (7): 1086–97. doi:10.1111/j.1528-1167.2005.05205.x. PMC 1360692. PMID 16026561.
  13. ^ Chugani, HT; Ilyas, M; Kumar, A; Juhász, C; Kupsky, WJ; Sood, S; Asano, E (2015). "Surgical treatment for refractory epileptic spasms: The Detroit series". Epilepsia. 56 (12): 1941–9. doi:10.1111/epi.13221. PMC 4679547. PMID 26522016.
  14. ^ Coleman, Mary; Gillberg, Christopher; Gillberg, Christopher (2012). "17. Prevention, Reversible Autism, and Medical Therapies". The Autisms (4th ed.). New York: Oxford University Press. pp. 315–316. ISBN 978-0-19-973212-8. OCLC 711828867.
  15. ^ Johnston, Michael V.; Adams, Harold P.; Fatemi, Ali (2016-08-18). Neurobiology of Disease. Oxford University Press. ISBN 9780190219086.
Much of this article is translated from the German Wikipedia article
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