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

NCT ID: NCT05269927

Last Updated: 2022-03-08

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 300 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2016-03-01
• Study Completion Date: 2021-05-31

Brief 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

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

TD (typically developing) infants

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

Group Type: EXPERIMENTAL

EEG

Intervention Type: DIAGNOSTIC_TEST

resting state EEG

DNA samples

Intervention Type: DIAGNOSTIC_TEST

genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples

clinical data

Intervention Type: DIAGNOSTIC_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 data

Intervention Type: OTHER

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

HR (high risk) for LD infants

Infants at high risk for language disorders

Group Type: EXPERIMENTAL

EEG

Intervention Type: DIAGNOSTIC_TEST

resting state EEG

DNA samples

Intervention Type: DIAGNOSTIC_TEST

genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples

clinical data

Intervention Type: DIAGNOSTIC_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 data

Intervention Type: OTHER

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

HR for ASD infants

Infants at high risk for autism spectrum disorder

Group Type: EXPERIMENTAL

EEG

Intervention Type: DIAGNOSTIC_TEST

resting state EEG

DNA samples

Intervention Type: DIAGNOSTIC_TEST

genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples

clinical data

Intervention Type: DIAGNOSTIC_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 data

Intervention Type: OTHER

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

Interventions

EEG

resting state EEG

Intervention Type: DIAGNOSTIC_TEST

DNA samples

genotypings of twelve CNTNAP2 SNPs from DNA obtained by saliva samples

Intervention Type: 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).

Intervention Type: DIAGNOSTIC_TEST

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

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 5 Months
• Maximum Eligible Age: 7 Months
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Ministry of Health, Italy

OTHER_GOV

Sponsor Role: collaborator

IRCCS Eugenio Medea

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Scientific Institute IRCCS E. Medea

Bosisio Parini, Lecco, Italy

Countries

Italy

Other Identifiers

707

Identifier Type: -

Identifier Source: org_study_id