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Neurodevelopmental Disorders

Neurodevelopmental Disorders

Diagnostic labels for neurodevelopmental conditions like autism try to explain what is common between individuals at the level of observable behaviour. While this level of explanation tries to maximize consensus amongst clinicians about what can be observed in behaviour, it also potentially masks important differences between individuals possessing the same label. These differences between individuals can also be expressed at every level one looks at – from the genome, through neural systems, the phenotype, and all the way up to respond to treatment and later life outcome. It may be that these multi-level differences between individuals are the most important features for understanding causes and mechanisms driving the emergence of such conditions. These differences may also be important clues that help us develop interventions and clinical practice that better maximizes the outcomes and potential of such individuals. The lab’s focus is better to understand what drives multi-level heterogeneity within and between individuals affected by neurodevelopmental conditions such as autism and to use that more precise understanding to better impact the lives of patients and their families.

IIT Publications List

Publications
2020
Procyshyn T.L., Lombardo M.V., Lai M.-C., Auyeung B., Crockford S.K., Deakin J., Soubramanian S., Sule A., Baron-Cohen S., Bethlehem R.A.I.
Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women
Molecular Autism, vol. 11, (no. 1)
2020
Lombardo M.V.
Ribosomal protein genes in post-mortem cortical tissue and iPSC-derived neural progenitor cells are commonly upregulated in expression in autism
Molecular Psychiatry
2019
Pagani M., Bertero A., De Felice A., Locarno A., Miseviciute I., Trakoshis S., Canella C., Supekar K., Menon V., Galbusera A., Tonini R., Lombardo M.V., Pasqualetti M., Gozzi A.
A mechanistic link between deficient synaptic pruning and functional hyper-connectivity in autism
Annual Meeting of the Society for Neuroscience
2019
Pagani M., Bertero A., De Felice A., Supekar K., Trak S., Galbusera A., Lombardo M., Menon V., Pasqualetti M., Gozzi A.
A mechanistic link between deficient synaptic pruning and functional hyper-connectivity in autism
Annual Meeting of the Organization for Human Brain Mapping
2019
Lombardo M.V., Eyler L., Moore A., Datko M., Carter Barnes C., Cha D., Courchesne E., Pierce K.
Default mode-visual network hypoconnectivity in an autism subtype with pronounced social visual engagement difficulties
eLife, vol. 8

ERC

Projects
ERC Starting Grant (AUTISMS)

The ERC Starting Grant AUTISMS focuses on decomposing heterogeneity in ASD at multiple levels of analysis. There are two main questions/objectives of this work. First, how and where does heterogeneity manifest across the autism spectrum? Secondly, which aspects of heterogeneity are most clinically-relevant or point towards biological mechanisms of importance? To begin answering these fundamental questions, we work to identify ASD subtypes at multiple levels of analysis utilizing multiple big data resources and advanced computational analysis methods that reveal large-scale multivariate patterns (e.g., unsupervised data-driven clustering) and utilizing a priori knowledge about clinically-relevant dimensions of stratification (e.g., sex, early language development, early social preferences, early intervention treatment response).