CDKL5 Deficiency Disorder
Conditions
Keywords
CDKL5, Drug Resistant Epilepsy, Survey Research
Brief summary
The primary objective of this research is to study the effects of fever on seizure activity in patients with CDKL5 deficiency disorder
Detailed description
The survey aimed to gather information on seizure during and after fever and hot temperature bath therapy from families of children diagnosed with CDKL5 deficiency disorder through the WeChat group. It is expected to to develop new intervention strategies to reduce seizure frequency, improve patient quality of life, and ultimately address the therapeutic challenges faced by the global CDKL5 patient community.
Interventions
OTHERObservation
This study was an observational study without intervention
Sponsors
Xuanwu Hospital, Beijing
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* A diagnosis of CDKL5 deficiency, including molecular confirmation of a pathogenic or likely pathogenic CDKL5 variant and refractory seizures. * Parents or guardians are willing to complete and provide information about the child's medical history and fever history after receiving the survey questionnaire online.
Exclusion criteria
* Any history of previous brain disease (trauma, etc.) that likely to precipitate seizures. * Presence of any clinical condition that in the opinion of the principal investigator makes the patient not suitable to participate in the trial.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Seizure frequency | Fever episodes within one year leading up to 2 hours of questionnaire completion | The results of seizure reduction reported in the questionnaire completed by the parents or the seizure diary provided online |
Countries
China
Contacts
PRINCIPAL_INVESTIGATORLiankun Ren, MD
Xuanwu Hospital, Beijing
Outcome results
None listed