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For infants being seen for the first time, the CDKL5 diagnosis is most often made after a clinical workup for causes of early-life seizures, including genetic testing.
For older children, the diagnosis is likely made in the process of revisiting potential causes for epilepsy and neurodevelopmental disorder, using the same kind of genetic testing.
Evaluation should seek to exclude other causes of early-life seizures, such as structural brain changes on imaging and metabolic disorders. Symptoms of CDKL5 disorder overlap with symptoms of various other neurodevelopmental disorders such as:
Any of the following four methods can establish a diagnosis of CDKL5 disorder:
Testing results should be reviewed with an expert in neurogenetics. Sometimes testing reveals variants in the CDKL5 gene that are not already known to be disease associated (called “variants of uncertain significance”). Such cases may require further workup, such as testing of both parents for the variant. Your doctors will help in determining how likely the variant in the CDKL5 gene is to be responsible for your child’s symptoms.
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.”