NCT05269927

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 300 (actual)
• Sponsor: IRCCS Eugenio Medea · Academic / Other
• Sex: All
• Age: 5 Months – 7 Months
• Healthy volunteers: Accepted

Summary

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.

Conditions

• Neurodevelopmental Disorders

Interventions

Type	Name	Description
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

Timeline

• Start date: 2016-03-01
• Primary completion: 2021-05-31
• Completion: 2021-05-31
• First posted: 2022-03-08
• Last updated: 2022-03-08

Locations

1 site across 1 country: Italy