Angelman Syndrome
Conditions
Keywords
AS database, MRI, EEG
Brief summary
The aims of study on Angelman syndrome: 1. Establish the Angelman syndrome database 2. Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Detailed description
1. The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : angelman225@126.com) and Children's Hospital of Fudan University. 2. Fistly all participants had clinically and molecularly confirmed as Angelman syndrome . All participants should entry the online questionnaries and carified by telephone or on site . All the information will be recorded in the Angelman syndrome database. Investigators will analyze and summarize the relationship of phenotype and genotype(n=200). 3. Participants who assigned the informed consent and will undergo the brain MRI inspection and Neural-EEG recording in the Children's Hospital of Fudan University. The healthy age- and sex-matched control participants will enrolled in the same hospital. The Investigators will explore the brain morphology and electrophysiological alterations and for Angelman syndrome (AS) children among the different genotypes(n=200).
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
* Clinical and molecular diagnosis of Angelman syndrome. * Agreed and completed the MRI scan and EEG-recording by using oral chloral hydrate.
Exclusion criteria
* Reject MRI scan and EEG-recording by using oral chloral hydrate or unable to complete the scan.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Angelman syndrome databas; Brain Network of Angelman syndrome | 0-18 years old | 1. Analysis of geneal situation of Chinese Angelman syndrome including phenotype ,genotype, brain image ,EEG data, living quality ,comorbidy evolulation(n=200) 2. Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data |
Countries
China