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

IRCCS Eugenio Medea300 enrolled

Overview

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 Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

300

Conditions

Neurodevelopmental Disorders

Interventions

clinical dataDIAGNOSTIC_TEST

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).

environmental dataOTHER

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

Eligibility

Sex: ALLMin age: 5 MonthsMax age: 7 MonthsHealthy volunteers:

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

EEG power spectral density (PSD)

Power spectral density (PSD) estimated in the delta, theta, alpha, beta and gamma frequency bands of the EEG

Time frame: one year after the end of the recruitment

EEG signal coherence

Time frame: 18 months after the end of the recruitment

EEG signal entropy