Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments

Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments

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.

ASD is a neurodevelopmental disorder affecting about 1 in 36 children and with a frequency increasing over time, thus delineating a significant social and public health problem that needs to be faced, as well as an important field of study and research.

This project starts from the idea that complex diseases such as ASD must be tackled with a multidisciplinary approach.

The investigators are collecting a large number of somatic cells from ASD patients who have been highly characterized and stratified in subgroups from a clinical, genetic, neurological and neuropsychological point and reprogramming these cells into induced pluripotent stem cells from which the cells of three embryonic germ layers originate.

Combining the expertise of the two Units, the project will have two short-term results:

1. a large collection of cell models from highly characterized ASD patients that can be shared with scientific community to speed up the understanding of the causes of the disease
2. the knowledge of pathological pathways of cells belonging to well characterized patients: omic analyses will be correlated to clinical/genetic data to understand if a specific subgroup has specific omic profile or the same profile is common to all ASD subgroups, if a specific clinical feature or genetic polymorphism is correlated with omic data.

Inclusion Criteria:

• Defined ASD diagnosis according to DSM-5 criteria
• Age 3-15 years
• Informed consent signed by the guardians/legal representatives.

Exclusion Criteria:

• 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.