What is CDKL5?
What is CDKL5?
ABOUT CDKL5
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Signs and Symptoms of CDKL5
What is CDKL5?
Just Diagnosed?
Is Any Child Seizure Free?
How Can I Have My Child Tested?
Is Research Being Done For CDKL5?
Links to Other Resources for Special Needs Families
Signs and Symptoms of CDKL5
- Epileptic seizures starting in the first five months of life.
- Infantile spasms (in about 50%)
- Many different types of epilepsy usually including myoclonic jerks
- A small head (microcephaly) in about 50%
- Hand wringing movements or mouthing of the hands
- Marked developmental delay
- Limited or absent speech
- Hypersensitivity to touch, for example dislike of hair brushing
- Lack of eye contact or poor eye contact
- Gastro‐esophageal reflux
- Constipation
- Small, cold feet
- Breathing irregularities such as hyperventilation
- Grinding of the teeth
- Episodes of laughing or crying for no reason
- Low/Poor muscle tone
- Very limited hand skills
- Some autistic‐like tendencies
- Scoliosis
- Cortical Visual Impairment (CVI), aka “cortical blindness”
- Apraxia
- Eating/drinking challenges
- Interruptive sleep
- Characteristics such as a sideways glance, and habit of crossing leg”
What is CDKL5?
“CDKL5 is a rare X‐linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro‐developmental impairment. CDKL5 stands for cyclin‐dependent kinase‐like 5, and is located on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The CDKL5 gene was previously called STK9.
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.
Most of the children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to a wheelchair , dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties (please refer to the FAQ regarding signs and symptoms of CDKL5). It is important to note that we don’t know the full spectrum of CDKL5 disorders at this time. It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder.”
Just Diagnosed?
Get connected. You are not alone. Link with others who can help support you through this journey
Is Any Child Seizure Free?
At this time there is no known cure for CDKL5. But advances are being made in helping treat the symptoms associated with the disorder. We are advocates of trying CBD to aid with the symptoms associated with CDKl5. For Harper, the addition of CBD led to 2 years seizure free.
How Can I Have My Child Tested?
There are several ways to have your child tested for CDKL5 or other neurological disorders. First take the time to find a good pediatrician that you trust and feel follows along the values of your choices for your family. This is a very important first step as the pediatrician will be the basis for every aspect of your journey. They can guide you to appropriate genetic testing in your area or you can find out more at CanMyEpilepsyBeGenetic.com. Financial Assistance is available there as well.
Is research being done for CDKL5?
YES! And with your continued help we are one more step closer to a cure.
If you have lost a CDKL5 Child you are still CDKL5 Family. Please join the rest of us in the Journey of #LifeAfterCDKL5 on Facebook