Study on the Brain Network of Angelman Syndrome

Fudan University

Status: Completed

Conditions: Angelman Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT03358823

2016YFC0904400

Details and patient eligibility

About

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

Full description

1. The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : [e-mail]) 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）.

Enrollment: 150 patients

Sex: All

Ages: Under 18 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

150 participants in 1 patient group

Angelman syndrome

Description:

Cases were children with the diagnosis meet the all 4 major criteria developmental delay, speech impairment, movement or balance disorder, and behavioral characteristics, as well as the presence of 3 of 6 minor criteria, including postnatal deceleration of head growth, seizures, abnormal EEG, sleep disturbance, attraction to or fascination with water, and drooling (summary by Tan et al., 2011). all patients meet the 4 known genetic mechanisms can cause Angelman syndrome (AS).,including maternal deletions involving chromosome 15q11.2-q13;paternal uniparental disomy of 15q11.2-q13;imprinting defectsand mutations in the gene encoding the ubiquitin-protein ligase E3A gene (UBE3A; 601623)