Infantile Spasms Diagnosis

Dr John Bodensteiner, MD “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, MD
Senior Associate Consultant
Mayo Clinic

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. Unfortunately, infantile spasms can be mistaken for:

  • Colic (thought to be caused by digestive irritability where the stomach is sometimes distended and the legs alternate between flexed toward the chest and extended straight out)
  • An exaggerated Moro reflex (spreading and unspreading of the arms found in infants 4-5 months of age)
  • Other epileptic disorders
But these conditions do not typically occur in repeated
clusters of spasms that are typical of infantile spasms.
Common symptoms include:
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. GeoghegansI 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
  • Repetitive forward head nodding or bobbing
  • Bowing from the waist when sitting
  • Drawing up of knees when lying down
  • Extending/stiffening the neck, trunk, arms and legs
  • Crossing arms across body as if self-hugging
  • Thrusting arms to the side, elbows bent
In addition, another trigger parents should be aware of, is when the child's development either stops advancing or actually regresses with loss of developmental milestones, such as:

Motor skills: where the child can hold head steady when sitting with your help, reach for a grasp objects, play wit toes, shake a rattle etc...

Sensory skills: where the child can open his mouth for a spoon, imitate familiar things you do etc...

Language and social skills: such as babbling, recognize a familiar face, laugh and squeal with delight, etc...

How does an EEG help diagnose Infantile Spasms?Hypsarrhythmia

Infantile spasms is typically dignosed by using an EEG (a recording of currents from nerve cells in the brain, with fluctuations shown as waves. The EEG traces brain waves and is used to diagnose IS, epilepsy, and other types of brain disorders) to discover if the child has hypsarrhythmia.

What is Hypsarrhythmia?

Infantile spasms are characterized by hypsarrhythmia (hips-A-'rith-mE-uh), a highly disorganized and chaotic pattern of brain wave abnormality found in an EEG (a diagnostic test of brain electrical activity helpful in diagnosing epilepsy). To explain further, a normal EEG shows clear separation between each signal with a visible pattern, whereas hypsarrythmia in an EEG has no recognizable pattern. Hypsarrythmia, which does not typically occur with other forms of epilepsy, can help to confirm a diagnosis of infantile spasms.

Furthermore, there is a strong correlation between hypsarrhythmia and the cognitive impairment (damage) and developmental delays that are often associated with infantile spasms. That's why an EEG is so important; it helps determine what the underlying disorder is that needs to be treated. A parent who is doing research and suspects their child may be suffering from infantile spasms must demand an EEG from a qualified child neurologist.
Don Shields, MD "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, MD
Professor Emeritus of Neurology and Pediatrics
David Geffen School of 'Medicine

Why is it important to treat and diagnose infantile spasms?

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 infantile spasms.