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Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response

Dee Daniels1,2, Kelly Knupp1,2, Tim Benke1,2

  • 1Children's Hospital Colorado, Aurora, CO, USA.

Global Pediatric Health
|January 24, 2019
PubMed

Insights

Early recognition and treatment with adrenocorticotropic hormone (ACTH) are crucial for infantile spasms in children with Down syndrome. ACTH shows higher remission rates compared to other treatments, highlighting its importance for this seizure disorder.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Infantile spasms are a severe epilepsy syndrome in infants.
  • Children with Down syndrome have a higher risk of developing epilepsy, including infantile spasms.
  • Understanding treatment efficacy and risk factors is vital for this population.

Purpose of the Study:

  • To evaluate infantile spasms in children with Down syndrome.
  • To assess treatment efficacy and identify treatment lag.
  • To determine risk factors predicting infantile spasms in this group.

Main Methods:

  • Retrospective chart review of 37 children with Down syndrome and infantile spasms (2005-2015).
  • Analysis of electroencephalograms and brain magnetic resonance images.
  • Comparison of treatment outcomes and risk factors.

Main Results:

  • Mean age at diagnosis was 9.16 months, with an average 1.38-month lag to treatment initiation.
  • Higher prevalence of heart defects and pulmonary hypertension in children with infantile spasms.
  • Adrenocorticotropic hormone (ACTH) led to higher remission rates (81% at 2 weeks, 94.1% at 3 months) versus other first-line treatments (18.8% at 2 weeks, 35.3% at 3 months).

Conclusions:

  • Early recognition and prompt treatment are critical for managing infantile spasms in children with Down syndrome.
  • Adrenocorticotropic hormone (ACTH) is a highly effective initial treatment.
  • Treatment type is the sole predictor of a favorable outcome.

Keywords:
Down syndromeWest syndromeanti-seizure drugsdevelopmental disabilitygenetics

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