Study on the Brain Network of Angelman Syndrome

Study Overview
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Brief Summary
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The aims of study on Angelman syndrome: Establish the Angelman syndrome database Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data

Detailed Description
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The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : angelman225@126.com) and Children's Hospital of Fudan University. 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). 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）.

Official Title
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Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data

Conditions
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Angelman Syndrome

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Angelman syndrome<br>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) | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Angelman syndrome databas; Brain Network of Angelman syndrome | Analysis of geneal situation of Chinese Angelman syndrome including phenotype ,genotype, brain image ,EEG data, living quality ,comorbidy evolulation(n=200) Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data | 0-18 years old | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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AS database, MRI, EEG