Infantile Spasms: Treatment Options and Success Stories - Rare Disease

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Infantile spasms (IS) are a type of seizure disorder that typically occurs in infants and can be quite challenging to manage. Your inquiry about treatment options and success stories is very relevant, especially given the complexities surrounding this condition.
1. Success Stories and Treatment Centers: There have been numerous cases both domestically and internationally where infants with spasms have achieved significant improvement or even remission. Notable centers include specialized pediatric neurology departments at institutions like Boston Children's Hospital, Mayo Clinic, and Johns Hopkins Hospital. Specific physicians known for their work in this area include Dr. Elizabeth Thiele at Boston Children's Hospital and Dr. Michael Johnston at the Mayo Clinic. However, it's important to note that outcomes can vary significantly based on individual circumstances, including the underlying cause of the spasms.

2. Duration of Treatment: The treatment duration for infantile spasms can vary widely. Some infants may respond to treatment within weeks, while others may require several months of therapy to achieve control over their spasms. The goal is to find the right combination of medications that work for the individual child. Regular follow-ups with a pediatric neurologist are essential to monitor progress and adjust treatment as necessary.

3. Surgical Options: In cases where medication fails to control the spasms, surgical options may be considered. There are documented cases where infants have undergone surgery, such as hemispherectomy or focal resection, and have not experienced significant post-operative complications. However, these cases are typically reserved for those with specific types of epilepsy that are localized and can be surgically addressed.

4. Infantile Spasms vs. Refractory Childhood Epilepsy: Infantile spasms are not synonymous with refractory childhood epilepsy, although they can be a precursor to more chronic forms of epilepsy. IS is characterized by specific types of seizures and often occurs in the context of developmental issues. If left untreated, some children with IS may go on to develop other forms of epilepsy, but not all will.

5. Imaging Techniques: The decision not to use Positron Emission Tomography (PET) or Single Photon Emission Computed Tomography (SPECT) scans usually stems from the fact that these imaging modalities are not routinely used in the initial evaluation of infantile spasms. MRI is often sufficient to rule out structural abnormalities. PET and SPECT are more commonly used in cases where there is a need to assess metabolic activity or blood flow in the brain, which may not be necessary in the early stages of IS.

6. Magnetoencephalography (MEG): Similar to PET and SPECT, MEG is not typically used for the initial evaluation of infantile spasms. It is a more advanced technique that can provide information about brain activity but is not widely available and is generally reserved for specific cases where other imaging techniques have not provided sufficient information.

7. Observation Period After ACTH Injection: The observation period following the administration of adrenocorticotropic hormone (ACTH) can be lengthy due to the potential side effects and the need to monitor the infant's response to treatment. ACTH can cause significant hormonal changes, and careful monitoring is necessary to ensure the infant's safety and to assess the effectiveness of the treatment.

In summary, while infantile spasms can be daunting, there are effective treatment options available, and many children do respond positively to therapy. It is crucial to work closely with a pediatric neurologist who specializes in epilepsy to tailor the treatment plan to your child's specific needs. Regular follow-ups and adjustments to the treatment regimen can lead to improved outcomes. If you have further questions or concerns, do not hesitate to reach out to your healthcare provider for personalized guidance.