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CDKL5 Deficiency Disorder

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When your child is born with a serious health condition, it can feel like their life has changed just as it’s starting.

CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder is a rare, genetic and chronic (lifelong) condition that causes seizures and developmental delays. It can also make it hard for your child to move, sleep and swallow. It happens when there are changes (mutations) in the gene, CDKL5, which makes proteins that help your child’s brain develop the typical way.

It’s natural to have questions and feel worried when you find out your child has a rare disorder. In a moment like this, you need a team of compassionate experts on your side. At Cleveland Clinic Children’s, our pediatric specialists treat every kind of neurological condition, including uncommon ones like CDKL5 deficiency disorder. We’ll help your child manage their condition and give you and your family the support you need, too.

Why Choose Cleveland Clinic Children’s for CDKL5 Care?

Skilled collaborative providers:

Since CDKL5 can affect different areas of your child’s body, they’ll have a care team of experts from many specialties, including neurology, genetic counseling, gastroenterology, pulmonology, cardiology and more. Meet our team.

Research and innovation:

The International Foundation for CDKL5 Research (IFCR) has named Cleveland Clinic Children’s a Center of Excellence for CDKL5 deficiency disorder. As part of this center, our specialists continue to study new ways to diagnose and treat this condition and give our patients the highest level of care. Your child may also be able to participate in one of our clinical trials for CDKL5. Ask their provider if they qualify.

Virtual visits:

Sometimes, the thought of getting a sick child to their provider’s office is too much. For some appointments, your child might be able to have a virtual visit. They’ll get the same great care without having to leave home. All you need is an internet connection and a smartphone, computer or tablet.

National recognition:

Cleveland Clinic Children’s is a trusted healthcare leader. We’re recognized throughout the U.S. for our expertise and care.

Diagnosing CDKL5 at Cleveland Clinic

The problem gene in CDKL5 deficiency disorder is found on the X chromosome. Since children assigned female at birth (AFAB) have two X chromosomes and children assigned male at birth (AMAB) have one X and one Y chromosome, CDKL5 deficiency disorder is more likely to be found in kids AFAB. But kids AMAB can get it, too.

Seizures are the number one symptom and can happen within the first few months after birth (some as early as the first week of life) or up until 2 years of age.

What to expect at your first visit

Your first visit starts with a conversation. Your child’s provider will ask about what your child has been experiencing, any symptoms they have and how long they’ve had them. We’ll also take a detailed medical history and give your child a physical exam to check their overall health.

Next, we’ll do a neurological exam to see how your child’s brain is working. Your child’s providers will use a few tests to take pictures of their brain, like an MRI (magnetic resonance imaging) or electroencephalogram (EEG).

Your child will also need genetic testing to confirm they have CDKL5 deficiency disorder.

Meet Our CDKL5 Deficiency Disorder Team

Your child’s pediatric care team will include experts from several different specialties. We’ll put together a team that focuses on every aspect of how CDKL5 deficiency disorder affects your child. Your child might work with:

Pediatric neurologists.
Pediatric radiologists (imaging specialists).
Pediatric ophthalmologists (eye specialists).
Pediatric physical therapists.
Pediatric occupational therapists.
Pediatric speech-language pathologists (SLPs).
Dietitians.
Social workers.

Providers Who Treat CDKL5 Deficiency Disorder

Locations

Our healthcare providers see patients at convenient locations in Northeast Ohio.

Treating CDKL5 at Cleveland Clinic Children’s

Treating a lifelong condition like CDKL5 deficiency disorder is all about managing your child’s symptoms. We want to make sure they stay as healthy as possible and keep them safe while they grow and develop. Your child’s provider may recommend:

Anti-seizure medications to reduce how often your child has seizures and try to make them less severe when they do happen. FDA-approved ganaxolone is a liquid anti-seizure medication that your child’s provider might talk with you about. Your child will need to drink this medication every day.
Nutrition counseling to make sure your child is eating the healthiest foods to manage their symptoms. Following a ketogenic (keto) diet, which is high in fats and low in carbs, may help manage their seizures. Your child’s provider will suggest a nutrition plan that’s best for your child’s specific needs.
Pediatric occupational therapy to help your child with fine motor skills, like using a spoon or putting on their socks and shoes.
Pediatric physical therapy can help your child get stronger, have better balance, improve coordination and increase the range of motion in their arms and legs. Depending on their age, pediatric physical therapy can help them with sitting, crawling and walking.
Pediatric speech therapy can help your child with speech problems, processing information and understanding language, as well as feeding and swallowing issues.
Vagus nerve stimulation (VNS) uses an implanted device to send regular mild electrical impulses to your child’s brain through the vagus nerve (the main nerve of the nervous system) in their neck. It can help control seizures and has been called a “pacemaker for the brain.”

Follow-Up Care

CDKL5 deficiency disorder is a condition your child will have throughout their lifetime. This means lifelong care from a team that’ll work with you as your child grows. Your child will see their pediatric providers regularly for follow-up visits to make sure their care plan is managing their symptoms — and to stay on top of any new symptoms that might develop. When your child reaches adolescence, we’ll start the process of moving them to Cleveland Clinic providers who manage adults with CDKL5 deficiency disorder. We want them to feel comfortable and confident with their continuing care.

Taking the Next Step

It can be overwhelming to find out your child was born with a serious condition like CDKL5 deficiency disorder. Cleveland Clinic Children’s compassionate experts are here to help you understand this diagnosis and make sense of the road ahead. We’ll work as a team and use our combined expertise and resources to make sure your child receives the best care now and throughout their life.