Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas

Am J Med Genet A. 2015 Mar;167A(3):602-6. doi: 10.1002/ajmg.a.36929.


Many children with trisomy 18 have apneas from the neonatal period. It has been reported that some children with trisomy 18 have epilepsy, including epileptic apneas. However, no previous report has described epileptic apneas in trisomy 18 neonates. We retrospectively reviewed the clinical records of neonates with trisomy 18 who were born at Anjo Kosei Hospital between July 2004 and October 2013 and investigated whether they had epileptic apneas during the neonatal period and whether antiepileptic drugs (AEDs) were effective for treating them. We identified 16 patients with trisomy 18. Nine patients who died within 3 days of birth were excluded. Five of the remaining seven patients had apneas. All five patients underwent electroencephalograms (EEGs) to assess whether they suffered epileptic apneas. Three of the five patients had EEG-confirmed seizures. In two patients, the apneas corresponded to ictal discharges. In one patient, ictal discharges were recorded when she was under mechanical ventilation, but no ictal discharges that corresponded to apneas were recorded after she was extubated. AEDs were effective for treating the apneas and stabilizing the SpO2 in all three patients. Among neonates with trisomy 18 who lived longer than 3 days, three of seven patients had EEG-confirmed seizures. AEDs were useful for treating their epileptic apneas and stabilizing their SpO2. Physicians should keep epileptic apneas in mind when treating apneas in neonates with trisomy 18.

Keywords: apnea; epilepsy; newborn; trisomy 18.

Publication types

  • Case Reports

MeSH terms

  • Apnea / diagnosis*
  • Apnea / etiology*
  • Child, Preschool
  • Chromosomes, Human, Pair 18
  • Diagnosis, Differential
  • Electroencephalography
  • Epilepsy / complications*
  • Epilepsy / diagnosis
  • Female
  • Heart Defects, Congenital
  • Heart Rate
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Respiratory Rate
  • Seizures / complications
  • Seizures / diagnosis
  • Trisomy 18 Syndrome
  • Trisomy*