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Infantile spasms are a rare but serious form of epilepsy that is often misdiagnosed. The disorder occurs in approximately 3 cases per 10,000 live births and usually begins in the first 4-8 months of life but can occur in children up to age 3. Most cases are associated with an abnormal brain wave pattern that can cause harm to a young, developing brain. Recognizing symptoms and initiating early treatment are critical in diminishing the long-term effects on these children. Because of this reason, raising awareness and aiding in early recognition is critical.

Recognizing the Symptoms of Infantile Spasms

Sadly, most cases of infantile spasms are misdiagnosed as reflux, colic, or normal startle reflex of infancy. These seizures can look like sudden stiffening of the arms and legs, bending forward of the body, or arching of the back. The key to differentiating these from normal infancy movements is that they often occur in clusters lasting 1-2 seconds and can occur up to 100 times per day. Spasms are also most likely to occur when the baby has just woken up.

Children with infantile spasms are at a much higher risk for developing intellectual disability, autism, and epilepsy. These spasms may also be associated with specific disorders such as genetic abnormalities, brain injury, or infection. In some children, no cause is found. The best plan of attack for infantile spasms is prompt recognition of the spasms, a full medical workup, and early intervention.

Parents vs. Practitioners: A Team Approach is Essential

The first line of recognition falls on parents, but too often, their concerns are dismissed by practitioners. It is important to educate both parties on infantile spasms, including what the spasms look like and the need for prompt evaluation and treatment.

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If parents know the symptoms, they need to document and record them in real-time so there’s evidence. Then, they should urgently seek medical attention. Parents are encouraged to use their cell phones for video evidence of what they are seeing, and it can be beneficial in helping the practitioners acknowledge their concerns. Learning the appropriate language to communicate to physicians can also make dismissal less likely. It can be helpful to describe these spasms in detail, including words like “stiffening” and “clusters” and how often they occur.

Healthcare workers need to be informed on how to recognize the symptoms of infantile spasms and the necessary workup and treatment after an initial diagnosis. To find a diagnosis, practitioners are responsible for recognizing the concerns of the parents or caretakers and analyzing the available evidence in addition to a workup that includes a neurological exam, EEG, and MRI. Most of these workups require admission to the hospital so they can be performed in a timely manner, and appropriate therapy can be initiated on an urgent basis. Infantile spasm cases can come into the pediatrician’s office, urgent care, or even the emergency department, making widespread education necessary. Early and effective treatment for these infants can improve the prognosis and lessen the severity of future epilepsy and degree of developmental delay.

Staying Educated and Informed 

All healthcare workers are required to complete continuing medical education regularly. Part of this CME could include information and the most up-to-date statistics for infantile spasms. It is the responsibility of the healthcare community to create these in-services and provide this material to bring awareness and education. As mentioned before, these children can present to a multitude of different doctors and clinics, so widespread education is needed for everyone. Recognizing, testing, and treating requires a multi-faceted team approach that could consist of pediatricians, nurse practitioners, Emergency Physicians, and neurologists. These providers can take the information, stay informed on the standards of care, and help spread awareness to their fellow practitioners. This awareness can make all the difference in the world for the next infant that comes into the ER with spasms and gets the correct treatment instead of being discharged.

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Recognizing Infantile Spasm Awareness Week

Infantile Spasms Awareness Week (ISAW)  is held annually, December 1-7, to raise awareness of infantile spasms for everyone, especially parents and health practitioners. As an ER physician and mother of a little boy with a genetic abnormality, Duplication 15q Syndrome, I understand the essential need to spread awareness of this seizure disorder. When going through the stressful process of diagnosing my son, my family was a victim of a physician dismissal even though I’m a physician myself. We had recognized developmental delay issues in our son for almost an entire year before we convinced the pediatrician to run the necessary tests that led to his Duplication 15q Syndrome diagnosis. This specific genetic condition is associated with hypotonia, developmental delay, and infantile spasms with a high incidence of future epilepsy. Even as a physician, I was unprepared and uninformed when it came to his diagnosis and complications while also being a physician in the past who was not educated on infantile spasms or similar disorders.

As a result, I decided to educate myself on the most up-to-date information regarding spasms and their evaluation and treatment. I took every opportunity to educate my co-workers on my son’s diagnosis as well as on infantile spasms so that we could spread awareness and effective medical care. Receiving my son’s diagnosis was the hardest thing I have gone through and came with a huge emotional journey. However, it has also made me a much better physician. Since his diagnosis and my educational journey, I have conducted seminars on infantile spasms and personally cared for and treated several babies in the ER with possible spasms. I have been able to recognize the symptoms and arrange full workups and consultations to identify the underlying cause and initiate treatment. I encourage other healthcare workers, especially those who work in ERs, to seek similar education on infantile spasms and understand how critical early intervention is with this disorder.

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Dr. Amber Andreatta
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