“Colic is the most common initial diagnosis made; but the spasms occur at times that aren’t necessarily associated with feeding – which colic is – and they occur in a series, which makes them unique in contrast to colic.” John Bodensteiner, M.D. Professor of Child Neurology Barrow Neurologic Institute

While infantile spasms is a rare form of epilepsy, it can be identified by its distinct (unique) characteristics if physicians and caregivers are aware of the telltale signs. Infantile spasms can be mistaken for colic or an exaggerated Moro reflex, but these do not typically occur in the clusters that are typical of IS. Infantile spasms is typically diagnosed by observing spasms in an infant who also displays hypsarrhythmic EEGs.

Patients with spasms will present in a variety of ways, but the most typical is a recognition of little flexion jerks that can be mistaken for a little startle reflex in children, and that happens fairly commonly. The thing that really triggers knowing that there*s something seriously wrong is the child's development either stops advancing or actually regresses with loss of developmental milestones. And even if the spasms are infrequent or subtle, that will bring them to the attention of a medical professional.

Why is it important to treat and diagnose infantile spasms?

Before she was diagnosed with infantile spasms, Hannah was babbling and making sounds. She lost her vocalization for awhile. At around 8 months old, post-treatment, she was able to sit unassisted and started laughing and making noises again. My greatest sadness is that there have been so many things that have happened in this past year - and I feel like we've missed out on enjoying each moment. I think we're just starting to be able to learn to enjoy those little moments - we celebrate each and every thing Hannah does. -- Shannon and Rod Geoghegans on importance of being aware and early/aggressive diagnosis/treatment

Babies often stop achieving developmental milestones and may even lose skills such as sitting, babbling or rolling over in conjunction with the onset of IS. Proper treatment can not only stop seizures and improve the EEG, but is often associated with developmental recovery. In addition, there is growing evidence that delay in effective treatment reduces the probability that the patient will do well developmentally. For these reasons, early recognition, diagnosis and treatment of infantile spasms is critical and can improve the developmental outcomes of infants diagnosed with IS.

"It is important to identify spasms early on and to treat as soon as possible because there’s growing evidence that delay in treatment reduces the probability that the patient will do well developmentally." Don Shields, M.D. Professor of Neurology and Pediatrics UCLA School of Medicine