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The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture
Engelsk titel: The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture Läs online Författare: Bourgeron, Thomas Språk: Eng Antal referenser: 79 Dokumenttyp: Översikt UI-nummer: 16033378

Tidskrift

Nordic Journal of Psychiatry 2016;70(1)1-9 ISSN 0803-9488 E-ISSN 1502-4725 KIBs bestånd av denna tidskrift

Sammanfattning

ESSENCE refers to early symptomatic syndromes eliciting neurodevelopmental clinical examinations. It includes a broad range of early onset neurodevelopmental disorders affecting more than 10% of children before 5 years of age. ESSENCE includes among others attention deficit hyperactivity disorder (ADHD), intellectual disability (ID) and autism spectrum disorders (ASD). Some degree of disability is the rule rather than the exception. The causes are heterogeneous ranging from extreme social deprivation, pre- and perinatal risk factors, genetic and metabolic diseases, immune and infectious disorders, nutritional factors, physical trauma, and postnatal toxic and environmental factors (and combinations/interactions of some or several of these). Treatments often involve a combination of psychoeducational interventions, homeand school-based programmes, and medication. Here, I will first briefly review our main knowledge on the biological pathways associated with early onset neurodevelopmental disorders and will provide useful links to be informed of the progress in the field. Five main pathways are associated with ASD and ID: chromatin remodelling, cytoskeleton dynamics, mRNA translation, metabolism and synapse formation/function. I will then detail three propositions coming from institutions, researchers and/or communities of patients and families to foster research: 1) to use more dimensional and quantitative data than diagnostic categories; 2) to increase data sharing and research on genetic and brain diversity in human populations; 3) to involve patients and relatives as participants for research. Finally, I will provide examples of very stimulating initiatives towards a more inclusive world for individuals with ESSENCE.