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Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome

Alberto Verrotti1, Raffaella Cusmai, Francesco Nicita

  • 1Department of Pediatrics, University of Perugia, Perugia, Italy.

The Journal of Pediatrics
|September 3, 2013
PubMed

Insights

Epilepsy in Down syndrome presents with varied seizure types, including infantile spasms, partial, and generalized seizures, often starting in infancy. Some seizure types, particularly partial and generalized, can be resistant to antiepileptic drugs.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Down syndrome is associated with a high prevalence of epilepsy.
  • Understanding the specific electroclinical features and outcomes of epilepsy in this population is crucial for effective management.

Purpose of the Study:

  • To characterize the electroclinical features and long-term outcomes of epilepsy in a large cohort of individuals with Down syndrome.
  • To analyze seizure types, onset, and treatment responses in relation to sex and age.

Main Methods:

  • Retrospective analysis of 104 individuals with Down syndrome and cryptogenic epilepsy with childhood onset.
  • Data collected from 16 Italian epilepsy centers over 40 years.
  • Evaluation of seizure onset, semiology, EEG, antiepileptic drug treatment, and long-term outcomes.

Main Results:

  • Epilepsy onset occurred in infancy for 51.9% of subjects, with males having a younger onset than females.
  • Infantile spasms (IS) were the most common seizure type (49.0%), followed by partial seizures (PS) (33.7%) and generalized seizures (GS) (17.3%).
  • Intractable seizures were noted in 22.1% of subjects, with higher rates in PS and GS compared to IS.

Conclusions:

  • Cryptogenic epilepsy in Down syndrome manifests with IS in infancy, or later as PS or GS.
  • IS in Down syndrome share features with West syndrome and respond well to adrenocorticotropic hormone.
  • PS and GS in Down syndrome may exhibit resistance to antiepileptic drug therapy.
Abstract

Keywords:
ACTHAEDAdrenocorticotropic hormoneAntiepileptic drugCBZCLZCarbamazepineClonazepamEEGElectroencephalographyFBMFelbamateGSGeneralized seizuresISInfantile spasmsLEVLGSLennox-Gastaut syndromeLevetiracetamNSNot significantPSPartial seizuresVGBVPAValproic acidVigabatrin

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