Phenotypic features associated with cyclin‐dependent kinase like 5 deficiency disorder

Takeaway

  • The most common seizure types in cyclin‐dependent kinase like 5 (CDKL5) deficiency disorder (CDD) were epileptic spasms (often without hypsarrhythmia) and tonic seizures; cortical visual impairment (CVI) was a common feature in CDD and was correlated with achieving fewer developmental milestones.

Why this matters

  • This is the first systematic assessment of CVI in CDD, which was found to be present in 75% of the study population and correlated with achieving fewer milestones.

  • CVI may be used as a marker of severity, prognosis, or need for more intensive and specific therapies, as it can be assessed in infancy.