This is an interventional non pharmacological study in pediatric patientis affected by Autism Spectrum Disorder. It ams to create a collection of iPSCs and hiNSCs derived from deeply characterized ASD patients, to omics-characterize the cells, and to study the behavioral pattern of microglia-like cells in the onset of ASD.
Defined ASD diagnosis according to DSM-5 criteria
Age 3-15 years
Informed consent signed by the guardians/legal representatives.
Exclusion criteria for Group 1 will be: having a defined genetic diagnosis or an overall clinical presentation strongly suggestive for a syndromic condition. For this definition we will apply the criteria ASD associated with at least one of the following: >=3 facial anomalies, >=1 major/>=2 minor malformation (following EUROCAT classification), clinical issue affecting >=2 systems. Children showing such phenotypes but having no current genetic diagnosis could not be included in the study. Patients with a syndromic presentation and confirmed genetic diagnosis will be included in the Syndromic Group 2.
No standardized test to establish diagnosis
Parents refusing to complete the consent form
Impossible blood sample collection.
Single group
Blood sample collection for ASD cells model production and Omic studies
Biological/VaccineThe blood sample collection performed in the study is for research purposes only and therefore not collected for clinical purposes. The patient cohort is extensively studied and well stratified, so cell models production and subsequent Omic analyses could be cross-referenced with detailed phenotype data.
Measurement of severity of ASD core symptoms with ADOS2
Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10
Measurement of severity of ASD core symptoms with SRS 2
Outcome unity of measure: T-score - Measure range: 30-90
Measurement of developmental abilities with Griffiths III scales
Outcome unity of measure: GQ - Measure range: \<20-150
Measurement of cognitive abilities with Wechsler scales
Outcome unity of measure: IQ - Measure range: \<20-160
Click on the lead sponsor to view all of their trials.
