CDKL5 syndrome

CDKL5 syndrome is a rare genetic neurological disorder which can only be diagnosed during pregnancy through a specific (non routine) test.
The disease is thought to be non-hereditary, although geneticists recommend specific pre-natal testing in case of future pregnancies, as there is a higher incidence among siblings.
The disease is caused by the errors in coding the CDKL5 protein, from which the disorder gets its name. The lack or errors in the structure of this protein causes an incomplete neural development.
The symptoms of the disease manifest in the first few months after birth (in both males and females). One of the first symptoms are epileptic seizures. For our observations, the seizure do not fit a uniform description, since they can vary in intensity, duration and frequency. The characteristics of these seizures may also change within the same child as time goes by. What is common to all these children is the ineffectiveness of pharmacological therapy. CDKL5 children are not epileptic, but rather it is the epilepsy that is a symptom of the disease.
Other typical characteristics include the absence of language (non-verbal), except for vocalizations, stereotypical hand gestures, hypotonic limbs and trunk, difficulty of learning simple tasks (sitting, walking, grabbing objects, etc).
Other symptoms of the disease include the absence of interest towards objects, sounds or people. Also the lack of social smile.
Additionally, there are some characteristics that are not common to all children such as visual deficits, scoliosis, bruxism, respiratory and gastrointestinal problems.