From the Guidelines
Benign infantile spasms are a rare seizure disorder that typically affects babies between 4-12 months of age and requires prompt treatment to avoid permanent neurodevelopmental sequelae, as highlighted in the management guidelines for cardio-facio-cutaneous syndrome 1. These spasms usually involve sudden jerking movements where the baby may bend forward at the waist with arms extended outward. While concerning to witness, the "benign" form has a generally good prognosis compared to other types of infantile spasms.
Key Considerations
- If your child has been diagnosed with benign infantile spasms, treatment typically involves medications such as ACTH (adrenocorticotropic hormone), vigabatrin (Sabril), or oral steroids like prednisolone, as part of a comprehensive management plan 1.
- The specific medication, dosage, and duration will be determined by your neurologist based on your child's individual needs, taking into account the potential risks of medication-related side effects, particularly in individuals with underlying conditions like cardio-facio-cutaneous syndrome 1.
- Most children require treatment for 2-6 months, during which regular follow-up appointments are necessary to monitor progress and potential side effects.
- It is essential to keep a seizure diary noting the time, duration, and description of any episodes, and to ensure your home is safe by padding sharp furniture edges and never leaving your baby unattended on elevated surfaces.
- Long-term neurologic reevaluation can be organized by the neurology consultant on the basis of need for ongoing seizure management, as seizures in conditions like cardio-facio-cutaneous syndrome are often refractory to medications and may require polytherapy 1.
Prognosis and Outlook
- Most children with the benign form have normal development and eventually outgrow the condition, though some may have an increased risk of developing epilepsy later in life.
- The benign classification means that underlying brain abnormalities are not present, which is why the outlook is generally favorable compared to other forms of infantile spasms, emphasizing the importance of early diagnosis and treatment to prevent long-term neurodevelopmental sequelae 1.
From the Research
Benign Infantile Spasms Patient Information
- Benign infantile spasms, also known as infantile epileptic spasm syndrome (IESS), is a condition that occurs in children under 2 years of age, characterized by brief, symmetrical contractions of the musculature of the neck, trunk, and extremities 2.
- The condition can be associated with developmental delay and, if left untreated, can cause impairment of psychomotor development and/or cognitive and behavioral functions 2.
Treatment Options
- First-line treatment options for infantile spasms include hormonal therapy (adrenocorticotropic hormone (ACTH) or corticosteroids) and vigabatrin, which have moderate to high efficacy but also exhibit substantial side-effect burdens 3.
- ACTH is considered a first-line treatment in the US, due to its high efficacy and low-cost profile 2.
- Vigabatrin is also a first-line treatment option, particularly for children with tuberous sclerosis complex, and is available through a manufacturer-sponsored program in accordance with its FDA-approved Risk Evaluation and Mitigation Strategy 4.
- Other treatment options, such as the ketogenic diet, sulthiame, topiramate, valproate, zonisamide, and benzodiazepines, may be considered if first-line treatments are ineffective 5.
Diagnosis and Evaluation
- If infantile spasms are suspected, electroencephalography (EEG) should be performed within a few days to confirm the diagnosis 5.
- Response to treatment should be evaluated clinically and electroencephalographically after 14 days 5.
- Regular follow-up controls are recommended to monitor the child's condition and adjust treatment as needed 5.