Table 2.

CDKL5 Deficiency Disorder: Frequency of Select Features

Feature 1% of Persons w/Feature
Development delay / intellectual disability100%
Epilepsy>99% 2
Sleep disturbances90%
Cerebral visual impairment80%
Gastrointestinal problems70%
Feeding problems requiring gastrostomy tube placement30%
Movement disorders25%
Musculoskeletal abnormalities20%
Respiratory problemsApnea/hypoventilation20%
Lower respiratory infections10%
Behavioral problemsUnknown

Based on Leonard et al [2022], the International CDKL5 Disorder Database (ICDD), and International CDKL5 Clinical Research Network (ICCRN)

1.

Families who care for children with CDD rank seizures as a top concern, followed closely by communication, sleep disorders, and vision issues [Neul et al 2023].

2.

Fewer than 1% of individuals with CDD do not have epilepsy [Fehr et al 2016, MacKay et al 2020, Jakimiec et al 2020, Aznar-Laín et al 2023].

From: CDKL5 Deficiency Disorder

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