Neurodevelopmental outcome of infantile spasms: A systematic review and meta-analysis

Widjaja, Elysa; Go, Cristina; McCoy, Bláthnaid; Snead, O. Carter

doi:10.1016/j.eplepsyres.2014.11.012

Cited by 93 publications

(97 citation statements)

References 27 publications

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“…22 Although cryptogenic infantile spasms has better prognosis than symptomatic infantile spasms, the outcome for cryptogenic infantile spasms remains poor. 23 There are multiple genetic determinants of infantile spasms, which are usually explained by mutations in distinct genes. Genetic analysis of children with unexplained infantile spasms have demonstrated mutations on the X chromosome in genes such as ARX, 26 cyclin-dependent kinase-like 5 (CDKL5), 27 and UDP-N-acetylglucosaminyltransferase subunit (ALG13) 28 as well as de novo mutations in autosomal genes, including membrane-associated guanylate kinase, WW and PDZ domaincontaining protein 2 (MAGI2), 29 STXBP1, 30 sodium channel alpha 1 subunit (SCN1A), 31 sodium channel protein type 2 subunit alpha (SCN2A), 32 g-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), 28 and dynamin 1 (DNM1).…”

Section: Epileptic Encephalopaties With Burst Suppression Patternmentioning

confidence: 99%

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

Gürsoy

Erçal

2015

J Child Neurol

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Epileptic encephalopathies are characterized by recurrent clinical seizures and prominent interictal epileptiform discharges seen during the early infantile period. Although epileptic encephalopathies are mostly associated with structural brain defects and inherited metabolic disorders, pathogenic gene mutations may also be involved in the development of epileptic encephalopathies even when no clear genetic inheritance patterns or consanguinity exist. The most common epileptic encephalopathies are Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome and Dravet syndrome, which are usually unresponsive to traditional antiepileptic medication. Many of the diagnoses describe the phenotype of these electroclinical syndromes, but not the underlying causes. To date, approximately 265 genes have been defined in epilepsy and several genes including STXBP1, ARX, SLC25A22, KCNQ2, CDKL5, SCN1A, and PCDH19 have been found to be associated with early-onset epileptic encephalopathies. In this review, we aimed to present a diagnostic approach to primary genetic causes of early-onset epileptic encephalopathies.

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Section: Epileptic Encephalopaties With Burst Suppression Patternmentioning

confidence: 99%

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

Gürsoy

Erçal

2015

J Child Neurol

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“…Furthermore, several cohort studies demonstrated deterioration of development despite spasm control, emphasizing the need to understand how spasms are generated as well as the neurodevelopmental decline that accompanies them . Despite this understanding of the importance of development as an outcome parameter, most studies of infantile spasms concentrate predominantly on how to manage them .…”

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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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“…[6][7][8][9][10][11] The prevalence of IS ranges from 2 to 3.5 per 10,000 live births per year and is often accompanied by neurodevelopmental regression and hypsarrhythmia on EEG recording. [12][13][14] Successful early treatment can protect ongoing development and lead to permanent remission. First-line treatments include adrenocorticotropic hormone (ACTH), high-dose prednisolone, and vigabatrin.…”

Section: Infantile Spasmsmentioning

confidence: 99%