Infantile spams without hypsarrhythmia: A study of 16 cases

Caraballo, Roberto; Ruggieri, Víctor Luis; González, Gabriel; Cersósimo, Ricardo; Gamboni, Beatriz; Rey, Andrea; Poveda, Juan Carlos Pérez; Bernardina, Bernardo Dalla

doi:10.1016/j.seizure.2010.11.018

Cited by 73 publications

(47 citation statements)

References 15 publications

(64 reference statements)

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“…Taurine was prescribed in order to prevent VGB-induced retinal phototoxicity (Jammoul et al, 2009). ESWH associated with TS may be a variant of focal spasms (Caraballo et al, 2003) and, as suggested by Caraballo et al (2011), might be considered an epileptic syndrome referred to as "ESWH in infancy and childhood. "…”

Section: Discussionmentioning

confidence: 99%

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Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type

Marchi

Seraphim

Corso

et al. 2015

Epileptic Disorders

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Epileptic spasms were defined by the International League Against Epilepsy Task Force on Classification and Terminology in 2001 as a specific seizure type. Epileptic spasms without hypsarrhythmia have been described in some series of patients, occurring either in infancy or childhood. More prolonged epileptic spasms without hypsarrhythmia were previously defined as a different seizure type, and referred to as "tonic spasm seizures". Here, we present a 5-year-old boy who started having epileptic spasms without hypsarrhythmia at 8 months of age, effectively treated with oxcarbazepine. With the withdrawal of medication, epileptic spasms returned. Video-EEG monitoring revealed high-voltage slow waves superimposed by low-voltage fast activity, followed by an electrodecremental phase and a burst of asymmetric fast activity, time-locked to clinical tonic spasm seizures. Brain MRI showed left temporal atrophy with temporal pole grey/white matter junction blurring and ictal PET-CT showed left basal frontal hypermetabolism. Seizures were refractory to several AEDs and vigabatrin was introduced with seizure cessation. Despite efforts to classify epileptic spasms, these are still considered as part of the group of unknown seizure types. In some cases, a focal origin has been suggested, leading to the term "periodic spasms" and "focal spasms". In this case, epileptic spasms without hypsarrhythmia, associated with tonic spasms, may be a variant of focal spasms and might be considered as an epileptic syndrome. [Published with video sequence]A cluster of three tonic spasms, characterized by sudden flexion of the head and proximal muscles, lasting 5, 4.3 and 1 second, respectively. The spasms were accompanied simultaneously by upward deviation of the eyes and oral automatisms at the end.Key words for the video research on www.epilepticdisorders.com

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Section: Discussionmentioning

confidence: 99%

“…Hypsarrhythmia is not found in all cases and ES without hypsarrhythmia (ESWH) have been described in some series of patients, occurring either in infancy or childhood, and are associated with different conditions (Goldstein and Slomski, ; Caraballo et al , ).…”

mentioning

confidence: 99%

Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type

Marchi

Seraphim

Corso

et al. 2015

Epileptic Disorders

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“…Thereafter, only those infants with hypsarrhythmia on the EEG were included in the study because this is mandatory for the classification of infantile spasms. Infants with spasms but no hypsarrhythmia demonstrate different developmental progression patterns and were likely to bias the developmental attainment results . Children younger than 2 months or older than 3 years 6 months, with a diagnosis of tuberous sclerosis or any contraindications for the use of hormonal therapies, were excluded from the study.…”

Section: Methodsmentioning

confidence: 99%

Developmental profile at initial presentation in children with infantile spasms

Sumanasena

Wanigasinghe

Arambepola

et al. 2019

Develop Med Child Neuro

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Aim To describe the baseline developmental profile and influence of clinical and demographic factors on the developmental skills of infants diagnosed with infantile spasms. Method Ninety‐five infants (55 males, 40 females) newly diagnosed with infantile spasms were recruited for a cross‐sectional, longitudinal study. All infants underwent Bayley Scales of Infant and Toddler Development assessments in the cognitive, receptive communication, expressive communication, and fine and gross motor developmental domains; they also underwent visual, auditory, and social behaviour assessments. Infants were categorized as ‘early’ (<6mo) or ‘late’ (≥6mo) presenters; if presented within 28 days, this was considered as ‘early presentation’, whereas a delay greater than 28 days was considered as a ‘delay in presentation’. Antenatal, perinatal, and postnatal risk factors were identified. Results Over 90% of infants showed impairment in all domains, with the majority having severe delay; 99% showed cognitive impairment. Delayed presentation was significantly associated with receptive communication delay (odds ratio [OR]=5.35; 95% confidence interval [CI]=1.05–27.32). Onset at 6 months or less influenced auditory (OR=2.8; 95% CI=1.16–6.8) and visual (OR=3.03; 95% CI=1.22–7.57) behaviours. Neonatal infections impacted both receptive (OR=1.12; 95% CI=1.04–1.2) and expressive communication (OR=1.08; 95% CI=1.02–1.14) delay. Neonatal seizures significantly influenced visual, auditory, and social impairments. Expressive communication and gross motor development shared common perinatal risk factors. Interpretation Adverse developmental status at presentation, associated with delayed presentation and neonatal risk factors should alert clinicians to the surveillance of at‐risk infants and seek out timely interventions. What this paper adds Ninety per cent of infants showed impaired cognitive, communication, and motor skills at presentation. Visual, auditory, and social behaviour impairments were significantly associated with perinatal risks. Visual, auditory, and social behaviour impairments were significantly associated with neonatal seizures.

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“…In fact, the international West Delphi Group consensus statement did not regard the presence of hypsarrhythmia as essential for the diagnosis of ISS [1], and correctly refocused the core of the electroclinical disorder on the ictal event associated with an electrodecrement on EEG in an appropriately aged child. ISS without hysparrhythmia are well documented [9]. We will continue to refer to the disorder as infantile spasms , while recognizing that in some children they may not occur during infancy, and may not manifest as classic flexor or extensor spasms, and hypsarrhythmia may only be an associated feature of the interictal EEG.…”

Section: Introductionmentioning

confidence: 99%

Genetic and Biologic Classification of Infantile Spasms

Paciorkowski

Thio

Dobyns

2011

Pediatric Neurology

146

125

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Infantile spasms are an age-dependent epilepsy that are highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems have focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with the recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much more likely to have infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children with these genetic associations with infantile spasms also have phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. We therefore also propose a biologic classification of the genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on that data. The two best described pathways of pathogenesis are abnormalities in the gene regulatory network of GABAergic forebrain development, and abnormalities in molecules expressed at the synapse. We intend for these genetic and biologic classifications to be flexible, and hope that they will encourage much needed progress in syndrome recognition, clinical genetic testing, and ultimately the development of new therapies that target specific pathways of pathogenesis.

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Infantile spams without hypsarrhythmia: A study of 16 cases

Abstract: The patients in this series may be considered to have a variant of West syndrome rather than an electroclinically distinct epileptic syndrome.

Cited by 73 publications

References 15 publications

Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type

Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type

Developmental profile at initial presentation in children with infantile spasms

Genetic and Biologic Classification of Infantile Spasms

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