Study on the Brain Network of Angelman Syndrome

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

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

Study Overview

• Status: Completed
• Conditions: Angelman Syndrome

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）.

• Study Type: Observational
• Enrollment (Actual): 150

Contacts and Locations

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 200232
      • Children's Hospital of Fudan University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (ADULT, CHILD)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

The patients of Angelman syndrome meet the clinical and genetic diagnosis criteria

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Angelman syndrome; 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?

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

Collaborators and Investigators

• Sponsor: Fudan University
• Investigators: Principal Investigator: Yi Wang, Dr., Children's Hospital of Fudan University

Publications and helpful links

General Publications

• Aghakhanyan G, Bonanni P, Randazzo G, Nappi S, Tessarotto F, De Martin L, Frijia F, De Marchi D, De Masi F, Kuppers B, Lombardo F, Caramella D, Montanaro D. From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. PLoS One. 2016 Sep 14;11(9):e0162817. doi: 10.1371/journal.pone.0162817. eCollection 2016.
• Tiwari VN, Jeong JW, Wilson BJ, Behen ME, Chugani HT, Sundaram SK. Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded orientation maps. Neuroimage. 2012 Jan 2;59(1):349-55. doi: 10.1016/j.neuroimage.2011.07.067. Epub 2011 Jul 30.

Study record dates

Study Major Dates

• Study Start (ACTUAL): May 20, 2017
• Primary Completion (ACTUAL): May 20, 2019
• Study Completion (ACTUAL): May 20, 2019

Study Registration Dates

• First Submitted: November 25, 2017
• First Submitted That Met QC Criteria: November 25, 2017
• First Posted (ACTUAL): December 2, 2017

Study Record Updates

• Last Update Posted (ACTUAL): April 26, 2021
• Last Update Submitted That Met QC Criteria: April 23, 2021
• Last Verified: April 1, 2021

More Information

Terms related to this study

• Keywords: MRI; EEG; AS database
• Additional Relevant MeSH Terms: Pathologic Processes; Central Nervous System Diseases; Nervous System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Movement Disorders; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Angelman Syndrome
• Other Study ID Numbers: 2016YFC0904400

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No