A Nationwide Multi-center Survey of Diagnosis and Treatment Practice of CDKL5 Deficiency Disorder in China
Abstract number :
1.307
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2024
Submission ID :
1124
Source :
www.aesnet.org
Presentation date :
12/7/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Taoyun Ji, MD – Peking University First Hosiptal
Jing Peng, MD – Xiangya Hospital of Zhongnan University, Changsha, China
Dan Sun, MD – Wuhan children's Hospital - Neurology, Wuhan, China
Fang Fang, MD – Beijing Children's Hospital, Capital Medical University
Shuizhen Zhou, MD – Children's Hospital of Fudan University, Shanghai, China
Yuwu Jiang, MD, PhD – Peking University First Hospital, Beijing, China
Rationale: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy (DEE) caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene, which has recently been officially recognized as a rare disease in China. Children with CDD are present with a broad phenotype, including early-onset intractable seizures, and cognitive and behavioral comorbidities, leading to high rates of disability and mortality and a significant social and economic burden. However, evidence on the disease characteristics or clinical practice of CDD was limited in China. This survey aimed to clarify the current diagnosis and treatment situation of CDD in China and raise disease awareness in Chinese society.
Methods: From June 21, 2023, to July 11, 2023, a nationwide multi-center questionnaire survey was conducted among the Subspecialty Group of Neurology, the Society of Pediatrics, Chinese Medical Association and the Chinese Association of Pediatric Neurologists membership units. A pre-designed semi-structured questionnaire was sent to 56 experts from the Pediatric Neurology, Pediatrics, and Pediatric Neurorehabilitation departments. Comprehensive information about CDD was collected, including patient profile, clinical manifestation, diagnosis, treatment, patient management, and assessment. Descriptive statistics were performed using Excel 2021.
Results: 41 experts from 38 hospitals responded, of which 39 questionnaires were valid and analyzed, covering 29 cities in China. The age of the first visit of the patients was mainly between the ages of 1-13 months, while the age of the first diagnosis was mostly between 1-24 months. Common symptoms in Chinese CDD patients included intractable seizures, neurodevelopmental disorders, physical growth retardation, sleep disturbances, and gastrointestinal problems. Visual problems and autonomic dysfunction were not explicitly mentioned by experts in this survey, which were considered two of the common clinical manifestations of CDD in previous studies. The diagnosis was based on clinical manifestations and confirmed by genetic testing. The treatments for CDD included medicine and non-medicine therapies. While no consensus was reached regarding medical treatment among experts for both epileptic spasms and other types of seizures, poor medicine response rates and limited effectiveness were widely reported. For drug-resistant epilepsy, ketogenic diet, vagus nerve stimulation, and corpus callosotomy were the remaining treatment options. Poor prognosis and high mortality of children with CDD were further confirmed in this survey. Clinicians called for more attention and research into this serious disease.
Conclusions: This was the first nationwide survey of CDD in China, revealing the clinical manifestations and current diagnostic and treatment practices of CDD patients, as well as delays in diagnosis and challenges in patient management. Further research is urgently needed to standardize, guide, and improve medical care for CDD patients.
Funding: National High Level Hospital Clinical Research Funding (Multi-center Clinical Research Project of Peking University First Hospital)(2022CR60)
Clinical Epilepsy