Treatment Outcomes of West Syndrome in Infants With Down Syndrome

Sanmaneechai, Oranee; Sogawa, Yoshimi; Silver, Wendy; Ballaban‐Gil, Karen; Moshé, Solomon L.; Shinnar, Shlomo

doi:10.1016/j.pediatrneurol.2012.09.006

Cited by 46 publications

(74 citation statements)

References 15 publications

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“…Multiple seizure types have been reported in patients with DS, including progressive myoclonic epilepsy associated with dementia [42], infantile spasms [43], and Lennox-Gastaut syndrome with reflex seizures [44]. Reports of developmental outcome of children with a history of infantile spasms and DS has been mixed, with some reporting better than expected outcome [45] and others noting high prevalence of ASDs and less favorable outcome [46]. The reason for such variability in epilepsy and developmental outcome in children with trisomy 21 is unclear.…”

Section: Genomic Disordersmentioning

confidence: 99%

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Lee

Smith

Paciorkowski

2015

Epilepsy & Behavior

139

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There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information is available regarding the genetic causes of both disorders. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available to practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy.

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Section: Genomic Disordersmentioning

confidence: 99%

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Lee

Smith

Paciorkowski

2015

Epilepsy & Behavior

139

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“…The incidence of IS in Down syndrome ranges between 1.5-32% (Goldberg-Stern et al 2001; Pueschel et al 1991; Romano et al 1990; Sanmaneechai et al 2013). The presence of increased GABA B receptor (GABA B R) mediated potassium currents in a mouse model of Down syndrome, Ts65Dn (Best et al 2007), was a reason to test the effects of γ-butyrolactone, a prodrug of the GABA B R agonist γ-hydroxybutyrate (Cortez et al 2009).…”

Section: West Syndrome and Infantile Spasmsmentioning

confidence: 99%

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies

Galanopoulou

Moshé

2015

Neurobiology of Disease

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Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences. EIEEs have numerous etiologies that contribute to the inter- and intra-syndromic phenotypic variability. Etiologies include structural and metabolic or genetic etiologies although a significant percentage is of unknown cause. The need to better understand their pathogenic mechanisms and identify better therapies has driven the development of animal models of EIEEs. Several rodent models of infantile spasms have emerged that recapitulate various aspects of the disease. The acute models manifest epileptic spasms after induction and include the NMDA rat model, the NMDA model with prior prenatal betamethasone or perinatal stress exposure, and the γ-butyrolactone induced spasms in a mouse model of Down syndrome. The chronic models include the tetrodotoxin rat model, the aristaless related homeobox X-linked (Arx) mouse models and the multiple-hit rat model of infantile spasms. We will discuss the main features and findings from these models on target mechanisms and emerging therapies. Genetic models have also provided interesting data on the pathogenesis of Dravet syndrome and proposed new therapies for testing. The genetic associations of many of the EIEEs have also been tested in rodent models as to their pathogenicity. Finally, several models have tested the impact of subclinical epileptiform discharges on brain function. The impact of these advances in animal modeling for therapy development will be discussed.

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“…However, there has been no report of epilepsy in these STXBP1 +/-mice. IS have also been reported in up to a third of patients with Down syndrome, and can be responsive-initially, at leastto medical treatments [82][83][84][85]. Recently, an acute animal model of IS was developed in a transgenic mouse strain of Down syndrome through induction with gammabutyrolactone, which eventually activates GABA B receptors [86].…”

Section: Genetic Etiologies Associated With Ismentioning

confidence: 99%

Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES)

2014

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The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with agespecific epileptic syndromes, such as infantile spasms and West syndrome, other syndromes may be determined by the effect of immunopathogenic mechanisms or energy-dependent processes in response to environmental challenges, such as infections or fever in normally-developed children during early or late childhood. Immune-mediated mechanisms have been suggested in selected pediatric epileptic syndromes in which acute and rapidly progressive encephalopathies preceded by fever and/or infections, such as febrile infection-related epilepsy syndrome, or in chronic progressive encephalopathies, such as Rasmussen encephalitis. A definite involvement of adaptive and innate immune mechanisms driven by cytotoxic CD8 +

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Treatment Outcomes of West Syndrome in Infants With Down Syndrome

Cited by 46 publications

References 15 publications

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies

Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES)

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