Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

Yuskaitis, Christopher J.; Ruzhnikov, Maura R.Z.; Howell, Katherine; Allen, I. Elaine; Kapur, Kush; Dlugos, Dennis J.; Scheffer, Ingrid E.; Poduri, Annapurna; Sherr, Elliott H.

doi:10.1016/j.pediatrneurol.2018.04.012

Cited by 45 publications

(57 citation statements)

References 32 publications

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“…Several large studies on the natural history and treatment of ES in infants have been performed, yet the mechanism of ES in human infants remains unclear. [41][42][43][44] Thus these findings should be replicated and expanded in a larger cohort of infants with TSC and others at risk of ES, such as infants with Down syndrome or perinatal brain injury, who could be followed prospectively with EEG before clinical onset of ES.…”

Section: Discussionmentioning

confidence: 90%

“…Third, although the clinical semiology of ES seen in TSC appears similar to that seen in ES from other structural or genetic causes, they may stem from a different pathophysiologic mechanism. Several large studies on the natural history and treatment of ES in infants have been performed, yet the mechanism of ES in human infants remains unclear . Thus these findings should be replicated and expanded in a larger cohort of infants with TSC and others at risk of ES, such as infants with Down syndrome or perinatal brain injury, who could be followed prospectively with EEG before clinical onset of ES.…”

Section: Discussionmentioning

confidence: 99%

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Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

et al. 2019

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Objective To identify whether abnormal electroencephalography (EEG) connectivity is present before the onset of epileptic spasms (ES) in infants with tuberous sclerosis complex (TSC). Methods Scalp EEG recordings were collected prospectively in infants diagnosed with TSC in the first year of life. This study compared the earliest recorded EEG from infants prior to ES onset (n = 16) and from infants who did not develop ES (n = 28). Five minutes of stage II or quiet sleep was clipped and filtered into canonical EEG frequency bands. Mutual information values between each pair of EEG channels were compared directly and used as a weighted graph to calculate graph measures of global efficiency, characteristic path length, average clustering coefficient, and modularity. Results At the group level, infants who later developed ES had increased EEG connectivity in sleep. They had higher mutual information values between most EEG channels in all frequency bands adjusted for age. Infants who later developed ES had higher global efficiency and average clustering coefficients, shorter characteristic path lengths, and lower modularity across most frequency bands adjusted for age. This suggests that infants who went on to develop ES had increased local and long‐range EEG connectivity with less segregation of graph regions into distinct modules. Significance This study suggests that increased neural connectivity precedes clinical ES onset in a cohort of infants with TSC. Overconnectivity may reflect progressive pathologic network synchronization culminating in generalized ES. Further research is needed before scalp EEG connectivity measures can be used as a potential biomarker of ES risk and treatment response in pre‐symptomatic infants with TSC.

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

et al. 2019

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“…The prognosis of IS mainly depends on the response to treatment and the underlying etiology . The cessation of spasms after initial treatment resulted in favorable developmental outcomes . Infants with IS with a known etiology generally have a poor prognosis when the causes are structural, metabolic, or genetic .…”

Section: Discussionmentioning

confidence: 99%

Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta‐analysis

Chang

Chen

et al. 2019

Ann Clin Transl Neurol

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ObjectiveTo compare the therapeutic effectiveness of oral corticosteroids with that of adrenocorticotrophic hormone for infantile spasms.MethodsPubMed, Embase, Scopus, and the Cochrane library were searched to retrieve studies published before December 2018 to identify pediatric patients with a diagnosis of infantile spasms. The interventions of oral corticosteroids and adrenocorticotrophic hormone were compared. We included only randomized controlled trials that reported the cessation of spasms as treatment response. The primary outcome was clinical spasm cessation on day 13 or 14. The secondary outcomes were the resolution of hypsarrhythmia, side effects, continued spasm control, spasm relapse rate, and subsequent epilepsy rate. Following the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses, the study‐level quality assessment was conducted using the Cochrane risk‐of‐bias tool.ResultsAfter extensive review, 39 articles were included for meticulous evaluation. Five randomized controlled trials with a total of 239 individuals were eligible for further analysis. No significant difference was detected between the corticosteroids and adrenocorticotrophic hormone in the cessation of clinical spasms (odds ratio [OR]: 0.54; 95% confidence interval [CI]: 0.16 to 1.81; P = 0.32). The subgroups of high‐dose prednisolone versus adrenocorticotrophic hormone and low‐dose prednisone versus adrenocorticotrophic hormone also exhibited no significant difference. Furthermore, the two subgroups did not differ in terms of hypsarrhythmia resolution, side effects, relapse rate, or subsequent epilepsy rate.InterpretationThis meta‐analysis suggests that high‐dose prednisolone is not inferior to adrenocorticotrophic hormone and that it be considered a safe and effective alternative treatment.

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“…Authors suggest that young infants are at higher risk of developmental delay from epileptic encephalopathy and earlier initiation of treatment results in better neurodevelopmental outcome assessed by Vineland Adaptive Behavior scale at 4 years of age. 33 In a retrospective study of infantile spasm of unknown cause, Yuskaitis et al 34 found that 31% of infants were spasm free for 6 months. Wanigasinghe et al 35 did not note a difference in spasm relapse between the ACTH or prednisolone as initial treatment over 12 months follow-up period.…”

Section: Long-term Spasm Controlmentioning

confidence: 99%

“…9 Gulati et al 12 in 21-month follow-up period, 48% of children were seizure free and 52% had persistent seizure. Yuskaitis et al 34 reported persisting seizures in 67% among those with infantile spasm of unknown cause and multiple seizure types (focal, tonic, atonic, myoclonic, and atypical absence) were described.…”

Section: Seizure Controlmentioning

confidence: 99%

Outcome of West Syndrome: A Critical Review

Adhikari

Gautam

2020

J Pediatr Epilepsy

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West syndrome is a genetically heterogeneous electro-clinical syndrome starting in early infancy. Short-term goal of therapy is spasm control and with standard hormonal or vigabatrin treatment, spasms can be controlled in 60 to 80% of patients in 2 weeks to 3 months period. Hormonal treatment with oral steroid is an alternative therapy to injectable adrenocorticotropin hormone, especially in low resource areas. Vigabatrin is preferred in tuberous sclerosis patients. Long-term aim of treatment is sustained remission of seizures and better neurodevelopmental outcome. About 50 to 70% of children are spasm free for prolonged duration, but epilepsy with multiple seizure types including Lennox–Gastaut syndrome is evident in 20 to 40% of children in long-term follow-up. Though hypsarrhythmia is helpful for the diagnosis, prognostic role of the resolution of electroencephalographic abnormalities is still uncertain. Seizures can be controlled in 40 to 60% of the patients, but only 12 to 40% children have normal neurodevelopmental outcome and a third of children are left with severe disabilities. Children with unknown etiology and normal development at spasm onset have better clinical outcome. Young age at onset, nonstandard therapy have less favorable outcome. Surgery is helpful for spasm control in patients with structural lesions and refractory spasms even in the absence of structural lesions.

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Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

Cited by 45 publications

References 32 publications

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta‐analysis

Outcome of West Syndrome: A Critical Review

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