Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.
Emily A Innes, Velda X Han, Shrujna Patel and 4 others
PMID 40019827WHAT IT FOUND
Across 124 studies, genetic testing identified a cause in 22% of all infantile spasms cases.
No consistent biological mechanism explains why ACTH or steroids work, and current evidence is too limited to guide treatment choices.
Key findings
01Combined genetic testing yielded a diagnosis in 22% of children across all aetiology cohorts and 20% in cohorts with presumed genetic causes.
02No consistent disturbance in stress hormones, immune markers, neurotransmitters, or metabolic pathways was found to explain infantile spasms or the mechanism of ACTH treatment.
03Only one study found that specific cerebrospinal fluid metabolic markers predicted response to steroid treatment, but this finding has not been replicated.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
The review found no consistent biomarkers to guide treatment, so it does not change clinical decision-making. Most included studies had small sample sizes and lacked comparison with typically developing controls. Evidence is largely indirect because brain tissue is rarely accessible in infants. Findings were inconsistent across studies, and few results were replicated. The review excluded single-gene studies and animal data, limiting the scope of genetic and mechanistic evidence.
Declared interests
One author received stipend support from the NHMRC and the Petre Foundation. The authors declared no other conflicts of interest.
The easy way to misread this
Do not interpret the genetic yield or hormonal findings as evidence that ACTH works through these specific mechanisms. The review states that the evidence for how ACTH/steroids treat infantile spasms is limited and largely hypothetical, with no definitive mechanism proven.