THIS IS SERIOUS

Delays worsen outcomes

Critical need for recognition of symptoms

Infantile spasms (IS) is a rare form of seizures and epilepsy in infants. Infantile spasms is extremely serious and devastating, but in its rarity, is often delayed in recognition, diagnosis, and treatment.1,2 “Infantile spasms,” “infantile epileptic spasms,” and “West syndrome” are terms that are often used interchangeably.3,4 West syndrome, a subset of infantile spasms, is an epilepsy syndrome.4

Early recognition and prompt treatment are modifiable factors to prognosis.5 Especially in the initial phase of the disorder, when episodes of spasms may be unnoticed and/or overlooked by parents,4 asking the right questions can help identify symptoms and clear the path to diagnosis without delay.

The consequences are dire when a case of infantile spasms is not recognized or treatment is delayed.4-6

KNOW WHAT IS LOOKS LIKE

Every year, ~2,500 babies born in the US will have IS.1

Did you know?

1 in 3 babies with IS will not reach their 3rd birthday.6


1 in 20 did not survive beyond 14 months of age.7

Obstacles to care

Education and awareness of IS can lead to earlier diagnosis and shorter lag time to treatment—which can make a difference in effective response. However, obstacles to diagnosis remain.2

  • Lack of awareness of the disease
  • Lack of awareness of treatment
  • Difficult to diagnose

Would you recognize the symptoms?

This IS infantile spasms

DON’T MISS IS TIP

Although rare, be aware, be prepared—you may see a case of infantile spasms.

Knowledge is key

Knowledge is key

While pediatric neurologists, especially pediatric epileptologists, are aware of and skilled at diagnosing IS, general pediatricians, primary care physicians, and emergency medicine physicians should consider recognizing possible IS as part of their differential diagnosis with disorders having similar symptoms.8,9

Know the Signs of Infantile Spasms2,8

  • Age-dependent <2 years old
  • Spasms (ictal episodes)
  • With or without hypsarrhythmia
  • With or without developmental delay or regression

Unfortunately, there can be delays in [diagnosis]. The first is pediatricians not recognizing the symptomatology, referring them first for other things like reflux. That’s very common.”10

—Pediatric Neurologist

We can do better

We can do better for patients with infantile spasms

By working together, staying focused, and being diligent in assessing our infant patients, we can improve the care of patients with infantile spasms.

Success starts with us. Assess every stage of the journey to diagnosis, and reduce time wherever possible.3

Delays to diagnosis of >7 days have been shown to increase life-long neurodevelopmental impairment.8,11,12

A shorter lead time to treatment (LTTT) <4 weeks is associated with a 51.9% improvement in neurodevelopmental outcomes compared to LTTT >4 weeks.13

Key opportunities and goals for improvement3

Opportunity Goal
Make the diagnosis early Evaluate with prolonged EEG within 1-2 weeks of symptom onset
Initiate treatment early Initiate treatment within 1 week of diagnosis
Choose a standard first-line treatment Referred specialist will initiate treatment immediately upon diagnosis, with the aim of controlling spasms
Investigate the etiology Perform brain MRI within 4 weeks of diagnosis

Consider tiered genetic and/or metabolic testing
Mitigate adverse side effects or treatments Monitor for hypertension and infection at least weekly

Obtain ophthalmologic evaluation every 3 months
Assess treatment efficacy Confirm that both clinical spasms and hypsarrhythmia have resolved with follow-up EEG at 2-3 weeks
Change treatments if response is incomplete Switch to an alternative standard treatment

For IS refractory to 2 standard treatments, consider surgery and/or additional treatments
Monitor developmental outcomes Refer to early intervention services

Assess every 6 months
EEG=electroencephalogram; MRI=magnetic resonance imaging.
Have a protocol

Have a protocol in place to improve care

A clear guideline is important when time is of the essence. Engage not only neurologists and epileptologists but also residents, fellows, nurses (both bedside and specialty), administrators, and managers early in the implementation process to ensure everyone is on the same page—and knows their role if a case of infantile spasms presents.13,14

Answers and logistics must be known and followed to reduce time to treatment

ELIMINATE ADMINISTRATION DELAYS
  • Who will manage the administration required for treatment—prior authorizations, insurance coverage, etc?
  • What are the referral necessities to be followed?
ELIMINATE COMMUNICATION DELAYS
  • Is there a pediatric neurologist or pediatric epileptologist to refer to?
  • Who is the nearest expert for differential diagnosis?
  • Is video conferencing in place if needed?
  • Who will manage patient communications and ensure follow-up?
  • Who will ensure all care providers who interact with the patient are informed of the diagnosis and plan of care?
ELIMINATE PROCEDURE DELAYS
  • Who will order the EEG or video EEG?
  • What precedence will the EEG take in imaging?
  • Who will monitor for adverse events, such as gastrointestinal bleeding, opportunistic infection, adrenal insufficiency, and/or vision loss?
OVERCOME GEOGRAPHICAL OBSTACLES
  • Is there a children’s hospital in relative proximity to assess the case?
  • If the expert is not on site or in close proximity, who will manage the patient?
  • If geography is an obstacle, are communication plans in place to confer with an identified expert?
STAY FOCUSED ON YOUR GOAL: TIME TO FIRST DOSE <28 DAYS FROM ONSET
  • What is anticipated time from presentation to first dose?
  • What IS THE ACTUAL time as each case presents?
Care for all

Ensure standards in care for all

All infants diagnosed with infantile spasms deserve equity in treatment, irrespective of race, ethnicity, or financial capability.15

Institutional barriers both at the state and hospital level may interfere with treatment, such as15:

  • Hours during which care is accessible
  • Availability of telehealth
  • Financial/logistical support for care and/or to travel to health care
  • Availability of paid disability leave

Given that some studies highlight disparities in treatment, health care providers must remain vigilant against systemic biases in care.15

Having a protocol in place for initial infantile spasms can help protect against inequities in treatment, at least in tertiary care centers; the community setting may be different. Affordability of care is likely a concern, and insurance type can be a significant predictor of treatment.15

Who will be the advocates with your states’ Medicaid programs to ensure that standard IS therapies are covered from the onset of the disorder?

DON’T MISS IS TIP

Know the symptoms, know whom you will refer to—and have a protocol in place to reduce time.

References
  1. Smith MS, Matthews R, Mukherji P. Infantile Spasms. National Library of Medicine. Updated March 10, 2023. Accessed October 24, 2023. https://www.ncbi.nlm.nih.gov/books/NBK537251/
  2. Chopra SS. Infantile spasms and West syndrome — a clinician’s perspective. Indian J Pediatr. 2020;87(12):1040-1046. doi:10.1007/s12098-020-03279-y
  3. Messer R, Knupp KG. Infantile spasms: opportunities to improve care. Semin Neurol. 2020;40(2):236-245. doi:10.1055/s-0040-1705121
  4. Pavone P, Polizzi A, Marino SD, et al. West syndrome: a comprehensive review. Neurol Sci. 2020;41(12):3547-3562. doi:10.1007/s10072-020-04600-5
  5. Riikonen R. Infantile spasms: outcome in clinical studies. Pediatr Neurol. 2020;108:54-64. doi:10.1016/j.pediatrneurol.2020.01.015
  6. Riikonen R. Long-term outcome of patients with West syndrome. Brain Dev. 2001;23(7):683-687. doi:10.1016/s0387-7604(01)00307-2
  7. Lux AL et al. Lancet Neurol. 2005;4(11):712-717. doi:10.1016/s1474-4422(05)70199-X
  8. Rao CK, Nordli DR III, Cousin JJ, Takacs DS, Sheth RD. The effect of smartphone video on lead time to diagnosis of infantile spasms. J Pediatr. 2023;258:113387. doi:10.1016/j.jpeds.2023.02.035
  9. Gali K, Joshi S, Hueneke S, et al. Barriers, access and management of paediatric epilepsy with telehealth. J Telemed Telecare. 2022;28(3):213-223. doi:10.1177/1357633X20969531
  10. Market research. Data on file. Pyros Pharmaceuticals, Inc.
  11. Wusthoff CJ, Shellhaas RA. Can a smartphone jump start care for infantile spasms? J Pediatr. 2023;258:113442. doi:10.1016/j.jpeds.2023.113442
  12. Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia. 2015;56(8):1185-1197. doi:10.1111/epi.13057
  13. Widjaja E, Go C, McCoy B, Snead OC. Neurodevelopmental outcome of infantile spasms: a systematic review and meta-analysis. Epilepsy Res. 2015;109:155-162. doi:10.1016/j.eplepsyres.2014.11.012
  14. Samanta D. Improving management of infantile spasms by adopting implementation science. Neuropediatrics. 2020;51(6):377-388. doi:10.1055/s-0040-1716901
  15. Baumer FM, Mytinger JR, Neville K, et al; Pediatric Epilepsy Research Consortium; National Infantile Spasms Consortium. Inequities in therapy for infantile spasms: a call to action. Ann Neurol. 2022;92(1):32-44. doi:10.1002/ana.26363