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