You or your loved ones may have a diagnosis of seizures and/or global developmental delay, but you may not know what the underlying cause is. Some causes of seizures and developmental delay include genetic mutations that may be linked to a rare disease, structural brain abnormalities, trauma, pregnancy or birth complications, or infection.
About 30% of people with developmental encephalopathies who do not have structural brain abnormalities or metabolic findings on tests have an underlying genetic change that is causing their symptoms. These conditions are a group of severe epilepsies causing seizures that are often not controlled with medication, developmental delay, and may lead to a loss of developmental skills.
There are many rare genetic conditions that occur due to what is called a de novo genetic mutation.
Seizures in children have many causes. Common causes of childhood seizures or epilepsy include:
Many seizures in childhood are not associated with a definite cause, however.
Seizures that occur at night can be called ‘nocturnal seizures’, they can cause unusual nighttime behavior. The baby could have shaking or jerking of the body which is called ‘tonic-clonic’ activity that typically lasts less than 5 minutes. During the tonic phase their muscles can stiffen, and if they have teeth they can bite their tongue, or if potty trained, they may wet the bed, or move their bowels. During the clonic phase, their muscles may twitch. They might make unusual noises or fall out of bed. Right after the seizure it may be hard to wake them up and they may be confused or show unusual behaviors. Also, if your child gasps or gags at night or wakes up with a choking feeling, they could be having a seizure. These symptoms may indicate sleep apnea.
One in four people with autism have seizures, and that number increases with puberty. Doctors think it may have to do with an increase in hormones. Some genetic disorders are seen in patients with both autism and seizures. Children with characteristics of both autism and seizures should get genetic testing.
Attention Deficit Hyperactivity Disorder (ADHD) can occur more often in people with epilepsy than in the general population. In fact, ADHD is the most common disorder that is diagnosed in children with epilepsy. Treating people with ADHD and epilepsy can be hard: some medications can increase the risk of symptoms of either condition. It is important to work with a healthcare team that considers epilepsy, behavior, and thinking in your loved one’s treatment plan. Your healthcare team may recommend genetic testing to gather more information.
Children aged 3 months to 5 or 6 years may have seizures when they have a high fever, called ‘febrile’ seizures. These febrile seizures can be ‘simple’ or ‘complex’. Simple febrile seizures have generalized full body fits or ‘convulsions’ that last less than 15 minutes and occur more than once in a 24 hour period. Complex febrile seizures start with one body party moving without others moving the same way, last more than 15 minutes and occur more than once in a 24-hour period. There can be an increased risk for febrile seizures in people with genetic abnormalities, so you may want to consider genetic testing.
Genetic testing can help you uncover if a genetic mutation is causing symptoms, such as seizures and developmental delays. Register below to see if you qualify for our free genetic services. Even if you don’t, join our community to receive other free benefits such as customized 1:1 support.
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Disclaimer
Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.