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Hans Hartmann, MD
Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases
Hannover Medical School, Hannover, Germany
hartmann.hans@mh-hannover.de
The term ‘neonatal encephalopathy’ refers to neonates presenting with a wide spectrum of neurological symptoms, in particular with impairment of consciousness and seizures. There is no generally accepted definition and it can be due to various underlying etiologies, including genetic and acquired conditions. In neonates presenting with symptoms suggestive of an ‘encephalopathy’, an acquired condition is usually suspected. Recent work has highlighted the role of genetic workup in the absence of a clear history of an acquired condition, like hypoxic-ischemic encephalopathy or stroke.
Seizures are the most common acute neurological emergency in neonates with an incidence of approximately 2 in 1000. Neonatal seizures usually are provoked (previously called symptomatic) and mostly self-limited. Neonatal onset epilepsies due to genetic or structural etiologies have become increasingly recognized. We aimed to review studies regarding genetic causes of ‘neonatal encephalopathies’, including neonatal onset epilepsies, with special emphasis on possible implications on treatment, and recent advances regarding the pharmacotherapy of neonatal seizures.
Therapeutic trials in neonates are extremely challenging and only few randomized controlled trials provide high quality evidence guiding therapeutic approaches. While phenobarbital has been the therapeutic mainstay over decades, other drugs have recently gained popularity. Especially levetiracetam now is frequently applied as first or second line drug for neonatal seizures, based on its tolerance and lack of interaction with other drugs. Positive effects have been described in case series and uncontrolled trials, but until recently, no data from controlled studies were available. A randomized controlled trial of phenobarbital vs levetiracetam in neonatal seizures was published in 2020. We reviewed this paper with regards to its implications on clinical management, its methodology, and to highlight the need for well-designed studies in neonates with neurological disorders.
Related Article: Yang L, Chen X, Liu X,et al. Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study. Clinical Genetics. 2020; 98:365-373. PMID 32712949