What is the life expectancy of a child with CDKL5?

What is the life expectancy of a child with CDKL5?

Q: What is life expectancy? A: Since CDKL5 was discovered only in 2004, we do not have enough data to fully answer this. We do know, however, that the oldest people described in the medical literature with CDKL5 are over 40 years old.

What is CDKL5 disease?

CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by changes (mutations) in the CDKL5 gene. CDD has been classified as a DEE because the genetic change causes both the epileptic activity as well as the severe impairment of development.

How does CDKL5 happen?

Almost all cases of this condition result from new (de novo) mutations in the CDKL5 gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.

What is Astatic seizure?

Historically, epilepsy is called the falling sickness because of episodes when patients suddenly crash to the ground and lose their posture. These seizures are called atonic or astatic seizures and are often the most troubling events for patients. During these events, patients may seriously hurt themselves.

How often does CDKL5 deficiency disorder occur in children?

Although rare, CDKL5 deficiency disorder is one of the most common forms of genetic epilepsy. Currently, there are two children diagnosed with the condition each week. The CDKL5 gene is responsible for creating a protein necessary for normal brain development and function.

Are there any children with the CDKL5 mutation?

CDKL5 mutations have been found in children diagnosed with infantile spasms, West syndrome, Lennox-Gastaut syndrome, Rett syndrome, and autism. The full spectrum of the CDKL5 disorder is unknown at this time. It is possible that there are affected individuals who have mild symptoms and no seizures.

What kind of neurodevelopmental problems does CDKL5 cause?

CDKL5 is a rare X-linked genetic disorder that results in severe neurodevelopmental impairment and early onset, difficult to control seizures.

When was the International CDKL5 disorder database established?

The International CDKL5 Disorder Database was established in September 2012 and is continuing to collect data from families with a child with confirmed CDKL5 disorder throughout the world. This database provides the capacity to collect important information which will help us better understand this disorder and the associated comorbidities.