Autism Spectrum Conditions' (ASC) heterogeneity (Geschwind and State, 2015; Lai, 2015; Szatmari, 2015) poses great challenges for the discovery of causes and effective interventions. An endophenotype-based stratification approach would accelerate the translational process from discovery of novel biological markers to development of effective individualized interventions (Kapur, 2012). Prosopagnosia, the deficit in face individual identity recognition, is a promising ASC endophenotype as it is hereditable (Wilmer, 2010; Zhu, 2010), enriched in non-affected family members (Wilson, 2010), linked to ASC-relevant oxytocin polymorphisms (Skuse, 2014; Westberg, 2016) and independent from IQ (Hedley, 2011; Zhu, CB 2010). The oxytocin (OXT) system plays a critical role in modulating social memory (Hattori, 2015; Engelmann, 1998; Ferguson, 2000; Guzman, NN 2013). In particular, OXT administration improves social memory in mice (Ferguson, 2000; Benelli, 1995), and humans (Rimmele, 2009), and can normalize face memory in humans with developmental prosopagnosia (Bate, 2014).

Identity recognition a promising oxytocin-relevant endophenotype to stratify autism spectrum conditions

Silvia Mandillo;Elisabetta Golini;
2018

Abstract

Autism Spectrum Conditions' (ASC) heterogeneity (Geschwind and State, 2015; Lai, 2015; Szatmari, 2015) poses great challenges for the discovery of causes and effective interventions. An endophenotype-based stratification approach would accelerate the translational process from discovery of novel biological markers to development of effective individualized interventions (Kapur, 2012). Prosopagnosia, the deficit in face individual identity recognition, is a promising ASC endophenotype as it is hereditable (Wilmer, 2010; Zhu, 2010), enriched in non-affected family members (Wilson, 2010), linked to ASC-relevant oxytocin polymorphisms (Skuse, 2014; Westberg, 2016) and independent from IQ (Hedley, 2011; Zhu, CB 2010). The oxytocin (OXT) system plays a critical role in modulating social memory (Hattori, 2015; Engelmann, 1998; Ferguson, 2000; Guzman, NN 2013). In particular, OXT administration improves social memory in mice (Ferguson, 2000; Benelli, 1995), and humans (Rimmele, 2009), and can normalize face memory in humans with developmental prosopagnosia (Bate, 2014).
2018
Istituto di Biologia Cellulare e Neurobiologia - IBCN - Sede Monterotondo Scalo
Istituto di Biochimica e Biologia Cellulare - IBBC
autism spectrum disorder
mouse models
oxytocin
endophenotype
prosopagnosia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/342822
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