Disease relevance of Spasms, Infantile

• X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation [1].
• Here, we report that de novo missense mutations in CDKL5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome [2].
• A 7-month-old infant had the infantile spasm syndrome, consisting of flexor and extensor spasms, developmental delay, and hypsarrhythmia [3].
• The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically and genetically distinct from X-linked West syndrome and other X-linked mental retardation-epilepsy syndromes [4].
• The children tested in the present study have reduced vision, probably associated with infantile spasms rather than vigabatrin [5].

Psychiatry related information on Spasms, Infantile

• Recently, polyalanine (polyA) tract expansions in the Aristaless-related homeobox (ARX) protein have been identified in a subset of patients with infantile spasms and mental retardation [6].
• High-dose VPA therapy was especially effective for West syndrome and for epilepsy with continuous spike-waves during slow-wave sleep [7].

High impact information on Spasms, Infantile

• Lamotrigine in infantile spasms [8].
• Vigabatrin in infantile spasms [9].
• Renal and pancreatic calcification during treatment of infantile spasms with ACTH [10].
• Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation [11].
• Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation [1].

Chemical compound and disease context of Spasms, Infantile

• Our findings indicate that patients with infantile spasms and bitemporal glucose hypometabolism on PET comprise a relatively homogeneous group and are typically not candidates for cortical resection [12].
• Infantile spasms responded as well to valproate as to adrenocorticotropic hormone in several studies, while valproate produced fewer side effects [13].
• Long-term response to zonisamide in patients with West syndrome [14].
• This sustained plateau of cortisol may be more effective in controlling infantile spasms than the pulse effect expected with oral steroids or lower doses of ACTH [15].
• Prednisone controlled 51% of patients with infantile spasms and none with other seizures [16].

Biological context of Spasms, Infantile

• The effects of the following factors on contrast sensitivity and visual acuity were examined: type of seizure (infantile spasms versus other), ERG result, duration of vigabatrin therapy, cumulative dosage of vigabatrin, and other seizure medications (other versus no other medication) [5].
• RECENT FINDINGS: Advances in our understanding of the mechanisms and genetics underlying infantile spasms and catastrophic epilepsy associated with tuberous sclerosis complex may facilitate more effective interventions [17].
• Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded [18].
• Elevated intraocular pressure associated with steroid treatment for infantile spasms [19].
• Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal 'lacunae'. It occurs only in individuals with two X chromosomes and is not familial [20].

Anatomical context of Spasms, Infantile

• Cerebrospinal fluid GABA levels in children with infantile spasms [21].
• The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects [22].
• We examined the effects on astrocytes of ACTH, which is used to treat West syndrome [23].
• This article discusses the use of epilepsy surgery, the ketogenic diet, and vagus nerve stimulation in the treatment of patients with infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy [24].
• Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm [25].

Gene context of Spasms, Infantile

• Tuberous sclerosis as an underlying basis for infantile spasm [26].
• With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life [27].
• In summary, increased tuber count is strongly associated with infantile spasms and a TSC2 gene mutation [28].
• Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists [29].
• ACTH has been used extensively for treatment of massive infantile spasms (MIS) and other intractable seizures [30].

Analytical, diagnostic and therapeutic context of Spasms, Infantile

• Positron emission tomography (PET) of local cerebral glucose metabolism in 13 children with infantile spasms of undetermined cause (cryptogenic spasms) revealed unilateral hypometabolism involving the parieto-occipito-temporal region in 5 female infants [31].
• The serum NSE value in the group with an acute insult (100.3 +/- 67.4 ng/mL) was significantly higher (p < 0.0001) than that for the West syndrome and the control groups [32].
• ACTH versus vigabatrin therapy in infantile spasms: a retrospective study [33].
• Fifty-two patients were enrolled in a four-week randomized multicenter study comparing nitrazepam and corticotropin in the treatment of infantile spasms [34].
• CONCLUSIONS: NMDA syndrome in rats fulfills some, but not all, criteria of the West syndrome model, such as occurrence of flexion seizures, nonspecific diffuse EEG changes, refractoriness to antiepileptic therapy (but a response to VPA), as well as long-term alteration of behavioral tasks [35].

References