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Infantile Spasms

Infantile Spasms Deep Research Fallback

⚠️ Fallback MONDO:0018097

Infantile Spasms Deep Research Fallback

Provider attempts

  • timeout 75s just research-disorder falcon Infantile_Spasms
  • Result: timed out with Recipe research-disorder was terminated by signal 15.
  • timeout 75s just research-disorder openai Infantile_Spasms
  • Result: timed out with Recipe research-disorder was terminated by signal 15.

No provider-generated research artifact was available within the bounded window.

Evidence-backed curation scope

The entry was curated from deterministic generated caches and primary/secondary biomedical sources:

  • Orphadata structured records:
  • ORPHA:697160 Infantile epileptic spasms syndrome, including inheritance, genes, phenotypes, and cross-references.
  • ORPHA:3451 West syndrome legacy exact mapping to MONDO:0018097.
  • PubMed caches:
  • PMID:35503712 ILAE classification and definition of epilepsy syndromes with onset in neonates and infants.
  • PMID:39029407 Danish national IESS epidemiology and outcome cohort.
  • PMID:27838190 ICISS randomized trial of hormonal therapy with or without vigabatrin.
  • PMID:16239177 UKISS randomized trial follow-up comparing hormone treatment and vigabatrin.
  • PMID:31903560 prednisolone/prednisone versus ACTH RCT meta-analysis.
  • PMID:35765990 network meta-analysis of first-line IESS treatments.
  • PMID:22364326 vigabatrin monotherapy review, including mechanism and TSC-specific first-line use.
  • PMID:37736852 current treatment-modality review and West syndrome triad wording.
  • ClinicalTrials.gov caches:
  • clinicaltrials:NCT04302116 vigabatrin plus high-dose prednisolone versus vigabatrin alone.
  • clinicaltrials:NCT04289467 fenfluramine for refractory infantile spasms.

Modeling notes

  • ORPHA:697160 lists the generic HPO root HP:0000707 Abnormality of the nervous system. It is intentionally documented in YAML notes rather than modeled as a phenotype because the entry includes more specific neurologic findings.
  • Treatment modeling emphasizes first-line hormonal therapy, vigabatrin, and combination therapy because these have cached RCT/meta-analysis support.
  • Refractory fenfluramine is represented as an active Phase II clinical trial rather than a standard treatment.