A Multi-domain Approach for the Characterization and Early Diagnosis of Neurodevelopmental Disorders

IRCCS Eugenio Medea

Status: Completed

Conditions: Neurodevelopmental Disorders

Treatments: Diagnostic Test: clinical data; Diagnostic Test: DNA samples; Other: environmental data; Diagnostic Test: EEG

Study type: Interventional

Funder types: Other

Identifiers

NCT05269927

707

Details and patient eligibility

About

Diagnosis and characterization of neurodevelopmental disorders are considered challenging processes because of their complexity, multi-factoriality and heterogeneity. The present project will consider two of the most common neurodevelopmental disorders (i.e. autism spectrum disorders (ASD) and language disorders (LD)), with the aim to overcome these difficulties, by: a) deeply investigating their neuronal correlates; b) identifying multi-domain biomarkers (electrophysiological, genetic, environmental and clinical); c) developing a machine learning algorithm for early diagnosis. To achieve the above mentioned aims a multi-domain dataset will be used, comprising data collected from typically developing infants, infants at high risk for ASD and infants at high risk for LD. The data that will be used have been already collected within other trials performed at the Scientific Institute E. Medea.

Enrollment: 300 patients

Sex: All

Ages: 5 to 7 months old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• APGAR scores at birth at 1' and 5' > 7;
• newborn screening otoacoustic emissions in the norm;
• absence of neurological disorders;
• Italian as the language mainly spoken in the family nucleus.

Exclusion criteria

• APGAR scores at birth at 1' and 5' <= 7;
• newborn screening otoacoustic emissions not in the norm;
• presence of neurological disorders;
• non-Italian native speaker

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

---

300 participants in 3 patient groups

TD (typically developing) infants

Experimental group

Description:

Typically developing infants, infants without familiar risk for ASD or LD.

Treatment:

Diagnostic Test: clinical data

Other: environmental data

Diagnostic Test: EEG

Diagnostic Test: DNA samples

HR (high risk) for LD infants

Experimental group

Description:

Infants at high risk for language disorders

Treatment:

Diagnostic Test: clinical data

Other: environmental data

Diagnostic Test: EEG

Diagnostic Test: DNA samples

HR for ASD infants

Experimental group

Description:

Infants at high risk for autism spectrum disorder

Treatment:

Diagnostic Test: clinical data

Other: environmental data

Diagnostic Test: EEG

Diagnostic Test: DNA samples