NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY

• Part 1. Autism spectrum disorders and Intellectual disability: Genetic and Non-Genetic Causes
1. Experimental tools for the identification of specific genes in autism spectrum disorders and intellectual disability
2. Genetic causes of autism spectrum disorders
3. Genetics of X-linked intellectual disability
4. Genetic causes of intellectual disability: the genes controlling cortical development
5. Immune Dysfunction in Autism Spectrum Disorder
• Part 2. Function of Mutated Genes in Intellectual Disability (ID) and Autism
6. Synapse proteomes and disease: the MASC paradigm
7. The Function of MeCP2 and its Causality in Rett Syndrome
8. FMRP and the pathophysiology of fragile X syndrome
9. X-linked ASDs and ID gene mutations
10. Shank3, Shank2, Shank1 mutations in ID and ASD
11. Mutations in synaptic adhesion molecules
12. CNTNAP2 mutations in autism
13. Planar cell polarity (PCP) gene mutations in Autism Spectrum Disorder, Intellectual Disabilities and Related Deletion/Duplication Syndromes
14. Protocadherin mutations in neurodevelopmental disorders
15. Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy, intellectual disability, and autism
16. Oxytocin in the developing brain: relevance as disease-modifying treatment in autism spectrum disorders
• Part 3. Experimental Models, Clinicaland Pharmacological Aspects of Major ASDs and Intellectual DisabilitySyndromes
17. Mouse Behaviour and Models for Autism Spectrum Disorders
18. The iPSC technology to study neurodevelopmental disorders
19. Rett syndrome: clinical aspects
20. Fragile-x syndrome
21. Phelan-McDermid syndrome: clinical aspects
22. Epilepsy associated with ASD and intellectual disability

Features:
• Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities
• Describes the genes implicated in autistic spectrum disorders and their function
• Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies
• Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture

Authors
• Carlo Sala, CNR Institute of Neuroscience, Milano, Italy.
• Chiara Verpelli, CNR Institute of Neuroscience, Milano, Italy