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There are many ways you can help children and their families get the care they need.
While there is no currently targeted treatment or gene therapy for CDKL5 disorder, a care plan can be adapted to the needs of each child. With appropriate therapy, we have found that children can do more than you might initially expect.
In many cases, the physical symptoms of CDKL5 can be alleviated and managed with a robust regimen of therapies:
If you are planning a visit, please call ahead so we help plan which specialty teams your child would benefit from seeing during your visit and any other testing that might be helpful. We can also assist you in scheduling appointments with specialists beyond the CDKL5 clinic.
One of the most common features of CDKL5 disorder is seizures that are typically challenging to control. There is no single best anticonvulsant medication or combination for children with CDKL5 disorder, so specialists in Boston Children’s comprehensive Epilepsy Center will work with you and your primary neurologist/epileptologist to choose medications tailored to your child’s needs. The choice is based on seizure type and the drugs’ mechanism of action, potential side effects and potential for interacting with other medications.
While one drug may work for a period of time, the nature of the seizures may change, so it may be appropriate to change medications. Thus, finding the best treatment approach for your child over time will require careful team work. The CDKL5 clinic team can offer advice and experience.
Many new anticonvulsants have come out on the market over the past couple of decades. This chart provides a more extensive list of drugs that are currently approved by the U.S. Food and Drug Administration.
If seizures are refractory (not responding to the usual medications), your doctor may also consider other treatments such as steroids and/or Intravenous Immunoglobulin (IVIG)
If medications are not effective, other treatment options include the following. Your child would require detailed clinical evaluation before we would try these treatments.
Children with CDKL5 disorder are not typically candidates for focal surgery (removing a part of the brain causing seizures) or laser surgery. This is because CDKL5 disorder affects the brain broadly, rather than in a specific location.
Treatment for feeding and swallowing dysfunction may include the following, and are adapted for each child:
Medications may be appropriate for management of reflux or constipation.
Nutrition evaluations to address difficulties with weight gain are also important.
Children who develop orthopedic complications from low muscle tone may be helped by braces, such as ankle-foot-orthoses, hand splints or scoliosis braces, depending on specific needs. Surgical treatments may also be required if orthopedic complications are severe.
Some children with CDKL5 disorder will benefit from dedicated sleep or behavioral assessments. While behavioral management and environment adaptations are always the first approach, medications are sometimes needed. Some children may have sleep breathing problems that contribute to daytime behavior concerns. You may be asked to complete a sleep questionnaire to determine if a dedicated sleep clinic visit is appropriate.
Some children with CDKL5 will need glasses to correct their vision, and some will have a misalignment of the eyes, known as strabismus. During your visit, treatment options for this condition will be discussed together with recommendations for services for promoting visual development, such as working with a teacher trained in cortical visual impairment (a teacher of the visually impaired or TVI).
While heart rhythm problems are not a known clinical sign/symptom of CDKL5 disorder, we suggest yearly electrocardiograms (EKGs) because of some clinical overlap of CDKL5 with Rett syndrome and other early life epilepsy syndromes with known risk for cardiac arrhythmias.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”