EEG As a Genetic Selection Lever in Autism Spectrum Disorder

NCT07891065 | Not Yet Recruiting

• 1 other identifier: 2025-07-Obs-CHRMT
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 2

Brief Summary

Autism Spectrum Disorder (ASD) is a growing public health concern, with genetic causes identified in about 20% of cases. While exome/genome sequencing is powerful, its cost and limited yield call for better patient selection. Electroencephalography (EEG) shows promise: early EEG patterns can predict ASD, and specific EEG features may help identify subgroups more likely to have a genetic cause. This project explores using EEG to optimize genetic testing strategies in ASD.

Conditions

Autism Spectrum Disorder (ASD

Keywords

Autism Spectrum Disorder (ASD); Electroencephalography; Exome; Genome

Outcome Measures

Primary Outcomes (1)

• EEG profil

  The EEG characteristics will be described according to 3 categories: 1) spike-wave bursts (SWB) profile, 2) alteration of sleep spindles profile, 3) others profile. This assessment will be conducted in a blinded manner by 3 pediatric neurologists. The analysis will focus on the first 10 minutes of sleep, using a standardized assessment grid.

  At Baseline

Secondary Outcomes (21)

• Status of patient exome regarding ASD

  Baseline

• Number of spike-wave bursts (SWB) on EEG

  Baseline

• Duration of spike-wave bursts (SWB) on EEG

  Baseline

• Location of spike-wave bursts (SWB) on EEG

  At Baseline

• Number of sleep spindles (SWB) on EEG

  Baseline

Study Arms (1)

Children diagnosed with autism spectrum disorder

Other: Collection of routine care data

Interventions

Collection of routine care data OTHER

Clinical, EEG and genetic data from the patient records of the children included will be collected

Children diagnosed with autism spectrum disorder

Eligibility Criteria

• Age: 12 Months - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

\- children with ASD who underwent both: * exome sequencing, * and a sleep EEG.

You may qualify if:

• Age \< 18 years
• Children with ASD
• Having undergone exome sequencing
• Having undergone a sleep EEG

You may not qualify if:

• Children whose legal representative has objected to the reuse of their data
• Presenting with another previously identified cause that may explain the ASD (toxic, infectious, perinatal distress)

Sponsors & Collaborators

• Centre Hospitalier Régional Metz-Thionville: lead

Study Sites (2)

Cabinet de Neurologie Pédiatrique

Le Ban Saint-Martin, 57050, France

Location

CHR Metz-Thionville Hopital Femme Mere Enfant

Metz, 57085, France

Location

MeSH Terms

Conditions

Autism Spectrum Disorder

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Claire BILBAULT, MD

  CHR Metz-Thionville Hopital Femme Mere Enfant

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mélanie JUNKE

CONTACT

0033387179886; projet-recherche-clinique@chr-metz-thionville.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 29, 2026
• First Posted: October 23, 2026
• Study Start: September 1, 2026
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: October 23, 2026

Record last verified: 2026-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)