Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome
A child gives a thumbs up. Seizures Emanuel Syndrome

Seizures

Seizures – Emanuel Syndrome

Seizures are seen in almost half of people with Emanuel Syndrome. Some of them are grand mal seizures, and some are partial seizures. There are many different types of seizures seen in our children. Some of our children have seizures that are serious and difficult to control. Many of our children require medication to control their seizures.

A seizure is best described as a sudden abnormal electrical discharge in the brain.

Types of Seizures

Seizures can look very different depending on where in the brain the electrical discharge is occurring. Doctors classify seizures into types based on what they look like. Here are some common examples:

  • Generalized tonic-clonic seizure – the whole body convulses, and the child loses consciousness. He may wet himself or bite his tongue. This type of seizure used to be called “grand mal” seizures, because they look scary when they are happening! They are also very tiring – afterwards, the child will want to sleep.
  • Absence seizure – these can be very subtle, as consciousness is only lost for a second or two. Usually, the only noticeable sign that a seizure is happening is the person pauses what they are doing and may flutter their eyelids. These used to be called “petit mal” seizures.
  • Complex partial seizure – this type is variable. Usually, the child appears to be awake, but they are not responsive when you talk to them. One or more parts of the body may move in a repetitive way (for example, lip-smacking or hand wringing). They usually last between 30 seconds to 2 minutes, and when the seizure is over, the child feels tired and does not remember it happening.
  • Infantile spasms – like the name suggests, this type of seizure occurs only in infants, and it does literally look like a spasm. The whole body jerks either forward (like a sit-up) or backward. . The child appears to be awake and may not seem disturbed by the seizure. They can happen alone or in clusters (several in a row).
  • Febrile seizures – These are typically generalized tonic-clonic seizures that occur when a child (usually between 6 months and 3 years of age) is mounting a fever, or when the fever is starting to break.
  • Epilepsy is simply the term used to describe the tendency to have seizures. A child who had a single febrile seizure does not have epilepsy unless he or she continues to have seizures once the fever has gone away. Epilepsy usually begins in childhood or adolescence. Some children who have epilepsy grow out of it by the time they reach adulthood.

What should you do if your child has a seizure?

If your child has a seizure for the first time, they should be checked out in the hospital emergency room right away. The doctors will do a CAT scan to make sure there is no bleeding in the brain causing the seizure. A neurologist will usually see the child as well, either in the emergency room or as an outpatient. 

An electroencephalogram (EEG) will be done to see if there is a specific location in the brain that is prone to seizure activity. Depending on the type of seizure, the age of the child, and the results of the EEG and CAT scan (or MRI scan), the doctor may decide to put your child on medication. Anticonvulsant medications (for example: valproic acid, phenobarb, lamotrigine, and carbamazepine) can help prevent further seizures from happening, but they all have side effects. It can take awhile to get the right balance of medication type and dose while avoiding side effects.

Epilepsy.com is a great parent-friendly website for further information on seizures.

“My daughter did not show any signs of seizures or neurological problems. She was two years old before we had a neurological workup. She had other pressing problems and the neuro appointment kept being pushed to the back burner. At the appointment, she had an EEG that came out fine. I was even proud when they told me that her EEG was “normal for a child of her age” and that her brain waves were not considered “slow”. They scheduled a 48-hour EEG and an MRI for the following month just to be on the safe side. We were told it was just a precautionary measure and she seemed fine. Less than two days later she had her first (and so far only) massive seizure on my living room floor. It was 3:15 am and I felt like the wind had been knocked out of me. She ended up in the PICU on a ventilator for three days. When we arrived at the hospital they performed an MRI of her brain. It revealed a thin corpus callosum, mild hydrocephalus and mild cerebral atrophy. I was told that the combination of these three brain abnormalities put her at higher risk for seizure activity. They are still unable to tell me why she never had seized before that day and what caused the seizure to happen that day. She has been on medication for her seizures. Since starting the medication she has not had any seizures and her EEG’s have all come back normal.”

Parent comment from Raising the Goddess of Spring

Reference

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957

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