An observational study in Autism Spectrum Disorder (ASD, sponsored by Centre Hospitalier Régional Metz-Thionville. Not yet recruiting at 2 sites in France. Open to participants aged 12 Months to 17 Years. Per ClinicalTrials.gov, last updated 2026-10-23.
Sponsored by Centre Hospitalier Régional Metz-Thionville · Observational
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.
Autism Spectrum Disorder (ASD) is a major public health challenge due to its rising global prevalence. Genetic factors account for about 20% of isolated ASD cases, with higher yields in syndromic forms. While exome and genome sequencing are gold-standard diagnostic tools, their high cost and limited diagnostic yield necessitate better patient selection strategies.
Electroencephalography (EEG) emerges as a promising complementary tool: early EEG profiles (as early as 3-10 months) can predict later ASD diagnosis, and EEG biomarkers (frequency bands, connectivity, etc.) help stratify ASD populations and assess severity. EEG abnormalities are also linked to more severe clinical profiles and higher epilepsy risk, suggesting distinct neurodevelopmental subgroups.
The core hypothesis is that specific EEG features (paroxysmal anomalies, sleep architecture disruption, etc.) may correlate with a higher likelihood of identifying a genetic cause via exome sequencing, thus optimizing diagnostic pathways.
The main objective of the study is to compare the EEG characteristics of patients with ASD between those with a 'positive' exome and those with a 'negative' exome. An exome will be considered positive if classified as pathogenic (class 5) or likely pathogenic (class 4) according to the recommendations of the ACMG (American College of Medical Genetics and Genomics).
The secondary objectives are:
1,755 studies on the registry are indexed under Autism Spectrum Disorder; 507 are open to participants now.
This study's planned enrollment of 80 is below the median of 102 across 328 observational studies indexed under Autism Spectrum Disorder.
Browse Autism Spectrum Disorder studies →Centre Hospitalier Régional Metz-Thionville is the lead sponsor of 123 studies on the registry; 21 are open to participants now.
Counted across the registry records on this site, refreshed daily.
- children with ASD who underwent both:
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Other: Collection of routine care data
Clinical, EEG and genetic data from the patient records of the children included will be collected
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.
Time frame: At Baseline
Status of patient exome regarding ASD
Exome results classified as pathogenic (Class 5) or likely pathogenic (Class 4) according to the recommendations of the American College of Medical Genetics and Genomics (ACMG) will be considered "positive". Others will be considered "negative"
Time frame: Baseline
Number of spike-wave bursts (SWB) on EEG
Time frame: Baseline
Duration of spike-wave bursts (SWB) on EEG
In seconds
Time frame: Baseline
Location of spike-wave bursts (SWB) on EEG
Classified as frontal, bifrontal, diffuse, or focal
Time frame: At Baseline
Number of sleep spindles (SWB) on EEG
Time frame: Baseline
Amplitude of sleep spindles (SWB) on EEG, rated on a 3-point scale
Time frame: Baseline
Frequency of sleep spindles (SWB) on EEG
Classified as alpha or beta
Time frame: Baseline
Duration of sleep spindles (SWB) on EEG
In seconds
Time frame: Baseline
Spindle synchrony on EEG
Classified as synchronous or asynchronous
Time frame: Baseline
Background rhythm in the awake state on EEG
Classified as alpha, theta, beta, or gamma
Time frame: Baseline
Patient age
In years
Time frame: Baseline
Patient gender
male/female
Time frame: Baseline
Familial history of ASD
Yes/No
Time frame: Baseline
Socio-economic status of the parents
Farmers /Artisans, Merchants, Business Owners / Managers and Professionals Intermediate Occupations / Office Workers / Manual Laborers
Time frame: Baseline
Severity of ASD according to DSM V
Minor / moderate / major
Time frame: Baseline
Nature of ASD
Regressive (Yes/No) or non-regressive (Yes/no)
Time frame: Baseline
Presence or absent of associated signs
Facial dysmorphia (Yes/No), heart disease (Yes/No), limb abnormalities (Yes/No), epilepsy (Yes/No)
Time frame: Baseline
Present or absent of neurological examination abnormalities
Cebellar syndrome (Yes/No), pyramidal syndrome (Yes/No), nystagmus (Yes/No), abnormal ROT (Yes/No), strabismus (Yes/No)
Time frame: Baseline
Degree of language delay
None, light, moderate, severe
Time frame: Baseline
Degree of cognitive impairment
None, light, moderate, severe
Time frame: Baseline
Screen exposure between 6 and 18 months
Average number of hours per day
Time frame: Baseline
Plan to share: No — According to the French law and the French Data Protection Authority (CNIL), we won't be able to publicly share individual participant data, but we plan to share their conclusions through peer-reviewed publications and conferences.
No publications or documents are linked to this record.
Start is estimated for Sep 2026; primary completion for Feb 2027, 5 months later.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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