Management Guidelines
International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder (CDD) have been published (full text). The management of individuals with CDD is complex and requires multiple specialty appointments; referral to a CDKL5 Center of Excellence may allow families to more easily coordinate care for affected individuals (to date, ten CDKL5 Centers of Excellence have been established in the United States).
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with CDD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
CDKL5 Deficiency Disorder: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Constitutional
| Measurement of OFC, length, weight | • Smaller OFC is assoc w/ severity of disorder.1
Poor weight gain can reflect nutritional status.
Neurologic
| Eval of epilepsy by neurologist or epileptologist | • EEG to assess EEG background, epileptiform activity, seizure type correlate w/clinical semiology
Prolonged video EEGs may be required to characterize spells of unclear etiology or rule out subclinical status epilepticus.
Eval of movement disorders | To characterize movement disorder, if present, ascertain effect on gross fine motor skills
Ophthalmologic/
Vision
| Ophthalmologist | Assess for visual acuity, abnormal ocular movement, refractive errors, strabismus
Source: GeneReviews — "CDKL5 Deficiency Disorder"
