Infantile Spasms Awareness and CVI

Infantile Spasms Awareness Week: December 1-7

Kathryne Hart is an advocate for and parent of Carter, a 3 year old with multiple disabilities including CVI. Kathryne is a fierce advocate for CVI, working with state and local leaders in Louisiana to change the outlook for children with CVI.

If you are a parent of a child with cortical visual impairment (CVI) chances are your social media feed in November included a lot of facts about epilepsy and seizure first aid for Epilepsy Awareness month. But did you know that over 50% of children with CVI also have seizures?¹ Many causes of CVI are also potential causes of seizures due to misfiring of the neurons in the brain from damaged tissue or neurotransmitter, metabolic, or mitochondrial disorders.

In most cases the cause of CVI is also the cause of epilepsy or vice versa. But there are also rare cases of epilepsy that can cause CVI on their own. Infantile Spasms also known as West Syndrome is one type of encephalopathy that can cause CVI in children with rare genetic disorders who may have otherwise not developed CVI. My son, Carter, is one such case.

Carter was diagnosed with Infantile Spasms, a rare form of epilepsy that affects 1.5 to 2 out of every 10,000 children, at 3 months old, the typical age of initial onset. Carter was born full term and imaging, metabolic testing, and several rounds of genetic testing originally returned with no discernible cause of his seizures, spasticity, and developmental delay. It would take us another two and a half years before we would find answers for the cause of Carter’s Infantile Spasms through the Rare Genome Project discovering he was only one of 25 cases in the world of recessively inherited genetic mutations to his UBA5 gene. Of those 25 cases only the children who experienced Infantile Spasms have CVI.

At the time of Infantile Spasms diagnosis we originally believed that we had caught and treated the spasms quickly, but eventually we realized that we missed several early signs of the seizures and the local medical system had not treated our case with urgency. By the time medication had resolved the spasms Carter no longer tracked objects, lights, or looked at our faces. The seizures had taken his vision. By 6 months old Carter was diagnosed with CVI based on exhibiting all 10 characteristics and his medical history of Infantile Spasms.

It is very easy to misdiagnose or miss the signs of Infantile Spasms. At first presentation the initial seizures look like a startle reflex, a jack knife, or a crunch, but in some cases the spasms can be as subtle as a head nod or wide opening of the eyes with eye deviation. The spasms may begin with one or two at first and go days in between or they may immediately cluster and build to over 100 spasms a day primarily occurring when falling asleep or waking up. A pediatrician will typically see only 2 to 3 cases in their lifetime and may misdiagnose the movements as reflux, GERD, Sandifer Syndrome, or colic. Carter was his pediatrician’s third case in over 25 years of practice and while the pediatrician suspected seizures right away Carter was scheduled for an outpatient EEG 4 days later. The pediatric neurologist did not read the EEG for another 2 days, and treatment began almost 2 weeks after our first appointment.

As we battled seizures on and off for over 3 years, we learned from pediatric neurologists who specialize in Infantile Spasms that every case is an emergency, and treatment should begin within a week of first presentation, preferably days. There is no such thing as a mild case of Infantile Spasms because both the repetitive spasms as well as the hypsarrhythmia cause microscopic brain damage that cannot be seen on an MRI. This damage causes developmental delay, decreases in IQ, and potentially cortical visual impairment which can worsen as spasms are not brought under control.

Because of the catastrophic nature of Infantile Spasms and the high rate of misdiagnosis, Child Neurology Foundation partners with over 25 national and international entities to raise awareness for Infantile Spasms through the Infantile Spasms Awareness Network (ISAN) and holds Infantile Spasms Awareness Week every December 1-7. In 2017 ISAN introduced the STOP Infantile Spasms mnemonic below to help parents recognize the signs and symptoms and decrease the time between first symptoms and treatment. You can also find more information and view videos of Infantile Spasms on their website: https://www.childneurologyfoundation.org/programs/infantilespasms.

¹ Huo R, Burden SK, Hoyt CS, et al. Chronic cortical visual impairment in children: aetiology, prognosis, and associated neurological deficits. British Journal of Ophthalmology, 1999; 83:670-675.