Seizures and Safety: What to Watch For

Managing Developmental and Epileptic Encephalopathy 85 (DEE85) requires a vigilant eye on two shifting fronts: the electrical activity in the brain (seizures) and the child’s developmental progress. Because this condition is caused by variants in the SMC1A gene, the brain’s “wiring” is often more excitable, leading to seizures that can be difficult to control with standard medications ^[1][2].

Seizure Patterns and Onset

In most children with DEE85, seizures begin within the first year of life ^[1]. These are rarely “one-off” events; instead, they often follow a pattern of refractory epilepsy, meaning the seizures continue despite treatment with multiple antiseizure medications ^[1].

Common seizure presentations in this population include:

• Focal Seizures: These start in one part of the brain and may cause rhythmic movements of one limb, eye deviation to one side, or autonomic signs like color changes or sweating ^[3][4].
• Seizure Clusters: A child may experience several seizures close together within a short period, with periods of recovery in between ^[4][5].
• Bilateral Tonic-Clonic Seizures: These involve the whole body, typically presenting as stiffening (tonic) followed by rhythmic jerking (clonic) ^[4].

Because these signs can be subtle, an EEG is needed to correctly classify them.

Developmental Regression and Growth

A hallmark of DEE85 is the relationship between seizures and development. While many children have global developmental delay (slower progress in all areas), more than two-thirds of children in a large study progressed to a state where their brain activity itself interfered with development ^[1].

Developmental regression—the loss of previously acquired skills—is common and often follows the start of seizures ^[1]. However, a new loss of skills always warrants prompt evaluation; it can reflect ongoing seizures, the underlying disorder, medication side effects, sleep disruption, or illness. Physical growth also changes over time. While babies with DEE85 are typically born with a normal head size, they often develop postnatal microcephaly, where head growth slows down significantly compared to the rest of the body ^[1].

Respiratory and Neonatal Challenges

The newborn period can be particularly complex for infants with DEE85. In a major international study, 51.4% of infants experienced a combination of neonatal problems that included seizures and respiratory compromise (breathing difficulties) ^[1]. These issues can include apnea (pauses in breathing) or cyanosis (a bluish tint to the skin due to low oxygen). While this statistic reflects the neonatal period, breathing safety remains an ongoing consideration.

🚩 Emergency Warning Signs and First Aid

It is essential to have a written Seizure Action Plan from your neurologist that defines your child’s specific emergencies and overrides generic guidelines. Generally, first aid and red flags include:

1. Seizure First Aid

• Time the event immediately.
• Clear nearby hazards.
• Place the child on their side when feasible to protect the airway.
• Do not restrain them or put anything in the mouth.
• Do not give food, drink, or oral medication until fully alert.

2. Status Epilepticus

A seizure that lasts longer than 5 minutes is considered a medical emergency known as status epilepticus ^[6]. If your individualized plan instructs you to act sooner, follow it. The longer a seizure lasts, the harder it is for the brain to stop it ^[7][8].

3. Rescue Medications

For dangerous clusters or prolonged seizures, you must use only the prescribed formulation, route, and weight-based dose of rescue medication (like midazolam or diazepam) exactly as written in your plan. Be aware that these medications can impair breathing ^[5][9].

4. Respiratory Distress and Failure to Wake

Call for emergency help if you notice an inability to breathe or cyanosis. Additionally, if your child does not return to their baseline level of awareness, they may be experiencing medication sedation, post-seizure recovery, or non-convulsive status epilepticus ^[10][11]. Non-convulsive status cannot be diagnosed at home and requires urgent clinical assessment and an EEG.