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

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.

Study Overview

• Status: Completed
• Conditions: Neurodevelopmental Disorders
• Intervention / Treatment: Diagnostic test: EEG; Diagnostic test: DNA samples; Diagnostic test: clinical data; Other: environmental data

• Study Type: Interventional
• Enrollment (Actual): 300
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Italy
  • Lecco
    • Bosisio Parini, Lecco, Italy, 23842
      • Scientific Institute IRCCS E. Medea

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 months to 7 months (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

3

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: TD (typically developing) infants; Typically developing infants, infants without familiar risk for ASD or LD.	Diagnostic test: EEG; resting state EEG; Diagnostic test: DNA samples; genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples; Diagnostic test: clinical data; standardized scales measuring the infants' cognitive, motor and linguistic development administered at 6, 12 and 18. Measures available at 6 and 12 months: a) Bayley Scales of Infant and Toddler Development- Third Edition; b) Griffiths mental development scales (0-2) (GMDS-R); Measures available at 18 months: c) Language Development Survey (LDS); d) "Il PRIMO VOCABOLARIO DEL BAMBINO" (PVB); e) CHILD BEHAVIOR CHECKLIST (CBCL); (f) Modified Checklist for Autism in Toddlers (M-CHAT).; Other: environmental data; questionnaires administered to parents related to the following environmental factors: a) information about the presence of a clinical diagnosis of neurodevelopmental disorders within first-degree relatives; b) gestational age; c) birth weight; d) parental age and education; e) socio-economic status
Experimental: HR (high risk) for LD infants; Infants at high risk for language disorders	Diagnostic test: EEG; resting state EEG; Diagnostic test: DNA samples; genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples; Diagnostic test: clinical data; standardized scales measuring the infants' cognitive, motor and linguistic development administered at 6, 12 and 18. Measures available at 6 and 12 months: a) Bayley Scales of Infant and Toddler Development- Third Edition; b) Griffiths mental development scales (0-2) (GMDS-R); Measures available at 18 months: c) Language Development Survey (LDS); d) "Il PRIMO VOCABOLARIO DEL BAMBINO" (PVB); e) CHILD BEHAVIOR CHECKLIST (CBCL); (f) Modified Checklist for Autism in Toddlers (M-CHAT).; Other: environmental data; questionnaires administered to parents related to the following environmental factors: a) information about the presence of a clinical diagnosis of neurodevelopmental disorders within first-degree relatives; b) gestational age; c) birth weight; d) parental age and education; e) socio-economic status
Experimental: HR for ASD infants; Infants at high risk for autism spectrum disorder	Diagnostic test: EEG; resting state EEG; Diagnostic test: DNA samples; genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples; Diagnostic test: clinical data; standardized scales measuring the infants' cognitive, motor and linguistic development administered at 6, 12 and 18. Measures available at 6 and 12 months: a) Bayley Scales of Infant and Toddler Development- Third Edition; b) Griffiths mental development scales (0-2) (GMDS-R); Measures available at 18 months: c) Language Development Survey (LDS); d) "Il PRIMO VOCABOLARIO DEL BAMBINO" (PVB); e) CHILD BEHAVIOR CHECKLIST (CBCL); (f) Modified Checklist for Autism in Toddlers (M-CHAT).; Other: environmental data; questionnaires administered to parents related to the following environmental factors: a) information about the presence of a clinical diagnosis of neurodevelopmental disorders within first-degree relatives; b) gestational age; c) birth weight; d) parental age and education; e) socio-economic status

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
EEG power spectral density (PSD)	Power spectral density (PSD) estimated in the delta, theta, alpha, beta and gamma frequency bands of the EEG	one year after the end of the recruitment
EEG signal coherence	EEG signal coherence	18 months after the end of the recruitment
EEG signal entropy	EEG signal entropy	18 months after the end of the recruitment

Collaborators and Investigators

• Sponsor: IRCCS Eugenio Medea
• Collaborators: Ministry of Health, Italy

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2016
• Primary Completion (Actual): May 31, 2021
• Study Completion (Actual): May 31, 2021

Study Registration Dates

• First Submitted: February 1, 2022
• First Submitted That Met QC Criteria: February 25, 2022
• First Posted (Actual): March 8, 2022

Study Record Updates

• Last Update Posted (Actual): March 8, 2022
• Last Update Submitted That Met QC Criteria: February 25, 2022
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Keywords: EEG; Neurodevelopmental disorder; Machine Learning; Multi-domain data
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Disease; Neurodevelopmental Disorders
• Other Study ID Numbers: 707

Drug and device information, study documents

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