CDKL5 Deficiency Disorder

What is CDKL5 deficiency disorder?

CDKL5 deficiency disorder is a rare genetic condition that affects about 1 in 41,000 people. It causes seizures and neurological and developmental delays that begin in infancy.

What causes CDKL5 deficiency disorder?

CDKL5 deficiency disorder involves a change (mutation) in a gene called the CDKL5 gene, which is found on the X chromosome. The mutation that causes CDKL5 deficiency is not usually inherited (passed down from parents), but in rare cases (less than 1%), the mother may carry the genetic change without symptoms of the disorder.

What is the life expectancy for CDKL5?

We don’t yet know this answer because CDKL5 was discovered in the early 2000s and we don’t have enough research. We do know that people with this condition are living into their 40s and 50s and we’ll continue to learn more about life expectancy and CDKL5.

What are the signs and symptoms of CDKL5 deficiency disorder?

Symptoms of CDKL5 deficiency disorder usually begin in infancy, often in the first month of life. The first sign is typically repeated seizures that do not get better with medication. This type of epilepsy is known as refractory epilepsy.

Children with this condition also often have additional physical and developmental challenges, including:

• Difficulty with hand movement and coordination
• Lack of speech
• Balance and coordination problems (including the inability to sit or walk in many cases)
• Intellectual and developmental disabilities
• Eyesight challenges
• Reflux, constipation, difficulty swallowing and breathing problems
• Abnormal movements of the hands or legs that can disrupt daily life
• Sleep problems

Can people with CDKL5 talk?

Most kids with CDKL5 struggle to communicate and some might not talk, but many can communicate through non-verbal methods or assistive devices.

What are the facial features of CDKL5?

While not present in all children, many kids with CDKL5 have wider, deep-set eyes, a broad forehead, full lips, a larger space between their nose and lips and a high roof of their mouth.

What tests are used to diagnose CDKL5 deficiency disorder?

The definitive test for CDKL5 is a genetic test. Your child’s doctor will take a small sample of blood or saliva and send it to a lab to look for the CDKL5 gene mutation.

How is CDKL5 deficiency disorder treated?

Currently, there is no cure for CDKL5 deficiency disorder. Treatments help ease your child’s symptoms and help them live their best quality of life.

At Children’s Hospital Colorado, we see people of all ages with CDKL5 deficiency disorder in our Rett Clinic, where our specialists and therapists come together for thorough evaluations and comprehensive, personalized treatment plans. Depending on your child’s needs, we may recommend:

• Medications to control seizures, address digestive problems, ease breathing difficulty and promote better sleep
• Supplemental feeding with a feeding tube
• Surgery or bracing for scoliosis
• Physical, occupational or speech therapy to address developmental and behavioral challenges

For families who travel to see us, we are happy to collaborate with local treatment teams to make sure your whole family has the care you need.

Why choose us for treatment of CDKL5 Deficiency Disorder?

As global leaders in CDKL5 deficiency disorder, we participate in the latest clinical trials for CDKL5 deficiency disorder therapies, which allows us to bring the latest and best treatment options to your child. We constantly evaluate and update our care models based on the most up-to-date research and care guidelines. 

We are designated as a Center of Excellence by the International Foundation for CDKL5 Research (IFCR) in recognition of our leading-edge multidisciplinary care. This designation recognizes that we bring all the specialists your child needs together at one time. This saves your family time and ensures all our specialists are working in a coordinated way to provide the best care for your child.

Our experts also recognize how this condition can impact entire families, so we provide compassionate care, resources and support for parents, siblings and other loved ones.

Contact us

To make an appointment at the Rett Clinic, call 720-777-4798 or email rettclinic@childrenscolorado.org.

Helpful resources

• The International Foundation for CDKL5 Research provides educational resources and information about advances in CDKL5 research.
• The National Foundation for Rare Disorders provides information about the signs, symptoms and treatment of CDKL5.
• The LouLou Foundation supports research into the understanding and development of therapeutics for CDKL5 Deficiency Disorder.
• Rocky Mountain Rett Association provides regional support for kids with Rett Syndrome, CDD and FOXG1 syndrome and their families including education and fundraising events.