In the framework of empowering citizens with Autism Spectrum Disorders, the speaker, supported by stakeholders, published an easy-to-read document on the tips to be followed when providing services to them and their families. This document has been translated into 42 languages and constitutes a popular summary of accepted principles for practice. The presentation will relate these 10 tips and will provide examples of how each one of them is applied now in Gipuzkoa, Spain. In this way, empowerment matches other interventional key aspects such as becoming embedded into your community, searching for outcomes and following international good practice guidelines. The goal of the presentation is to generate ideas that could be adapted to national conditions and possibilities in Switzerland.
Joaquin Fuentes Biggi, MD
Chief of Child and Adolescent Psychiatry, Policlinica Gipuzkoa
Research Consultant (Pro bono), Gautena Autism Program
Donostia / San Sebastián, Spain
He serves as the Head of the Child and Adolescent Psychiatry Unit, at Policlínica Gipuzkoa, San Sebastian, Spain. Also, since 1980, he is Research Consultant (Pro bono) of the Gautena Autism Society, County of Gipuzkoa, Spain, that he has helped to develop as a recognized community structure (Awarded the European Citizen´s Prize in 2016)
After studying medicine at the University of Zaragoza in Spain, and doing his internship in his hometown, San Sebastián, he moved to the USA for his psychiatry training at the Albany Medical Center, New York, and his child psychiatry fellowship at Western Psychiatric Institute and Clinic, Pittsburgh, Pennsylvania.
He is Counsellor of the Executive Committee of IACAPAP (International Association of Child & Adolescent Psychiatry and Associated Professions), where he served before as one of the Vice-presidents. He received the IACAPAP Medal in 2014, and one of the six national awards for Excellent Professional Trajectory given by the Spanish Medical Council in 2016. During the years 2013-2015 he was a member of the Steering Committee of the Presidential Initiative – American Academy of Child & Adolescent Psychiatry.
His interest in Autism Spectrum Disorders (ASD) has moved him to be the scientific coordinator of the former Study Group established by the National Institute of Health Carlos III, Ministry of Health, Spain; and to serve now as the scientific advisor to the Leadership of ASDEU (Autism Spectrum Disorders in Europe): an initiative of the European Commission coordinated by the National Institute of Health Carlos III, in Madrid.
Autism is a neurodevelopmental disorder, that begins already in utero and affects neurons during essential development processes, including proliferation, neuronal growth and differentiation, migration, synapse formation and network construction.
Abnormalities in eye-contact are one of the diagnostic criteria of ASD, and individuals with ASD often report that looking in the eyes of others is stressful, or even that 'it burns'. Here I will present a possible unifying theory of the molecular pathology that could be at the neural basis of abnormal eye-contact in ASD, and illustrate it with evidence from our brain imaging research. In that model, an abnormal balance between the excitatory and inhibitory systems results in hyper-connected face processing subcortical pathways. Over time, this hyperconnectivity develops into a hypersensitivity of the amygdala to eye-contact, leading to an aversive reaction to direct eye-gaze.
In everyday life, such oversensitivity may lead to attempts to decrease one’s arousal levels, and simply avoiding eye-contact with others is one common strategy among people with ASD. However, such a strategy is unlikely to come without costs because the eyes carry important interpersonal and deictic information during social interactions and communication, and eye-avoidance may result in cascading effects leading to improper development of the social brain
Prof. Nouchine Hadjikhani
Harvard Medical School, Boston
Professor Nouchine Hadjikhani, MD, PhD, does brain research at the Harvard/MGH affiliated Martinos Center for Biomedical Imaging in Boston, where she directs the Neurolimbic Research Laboratory. She is also invited Professor at the Gillberg Neuropsychiatric Center in Gothenburg, Sweden. Between 2006 and 2012, she directed the Social Cognition Lab at EPFL Lausanne thanks to a Professeur Boursier grant from the Swiss National Foundation. Nouchine Hadjikhani’s initial focus of research was the visual system, which over time developed into several topics, including migraine, emotion processing and autism. She has a special interest in understanding neurodevelopmental disorders, and how different conditions can affect the processing of emotions expressed not only by facial expression, but also by gaze and by body language. For her research, she has been using different techniques including fMRI, MEG and eye-tracking. She has authored more than 95 peer-reviewed papers, some of them highly cited, and is the author of a book as well as several book chapters. Recently, she was the author of a paper showing that contrary to what had been thought, individuals with autism do not lack affective empathy and that their seemingly uncaring behaviour stems from personal distress and lack of ability to reappraise when observing pain in others, rather than from an absence of concern. Nouchine Hadjikhani was awarded the Leenaards Fellowship award in 2010, and received in 2016 the LifeWatch award for her research on autism.
Autism has traditionally been thought to affect predominantly males, with a male:female ratio of 5:1 or even 10:1 amongst individuals without additional intellectual disability. However, recent work suggests a much lower ratio in well studied samples, suggesting that we may be missing or misdiagnosing many women and girls. This talk will consider some of the reasons why autistic women and girls may have been overlooked, what is known about differences in presentation of autism by gender, and current research trying to understand better the experiences and needs of females on the autism spectrum.
Prof. Francesca Happé
Professor of Cognitive Neuroscience
Director & Head of Department, MRC Social, Genetic & Developmental Psychiatry Centre
Institute of Psychiatry, Psychology & Neuroscience, King's College London
Francesca Happé is Professor of Cognitive Neuroscience and Director of the Social, Genetic & Developmental Psychiatry Centre at the Institute of Psychiatry, Psychology & Neuroscience, King’s College London. Her research focuses on autism spectrum conditions. She has explored the nature of social understanding in neurotypical development and ‘mentalising’ difficulties in autism. She is also actively engaged in studies of abilities and assets in autism, and their relation to detail-focused cognitive style. Some of her recent work focuses on mental health on the autism spectrum, and under-researched subgroups including women and the elderly. Her research spans cognitive experiments, functional neuroimaging, exploration of acquired brain lesions, and behaviour genetic methods. She was recently ranked in the top 10 most productive and highly cited authors in autism research worldwide (Sweileh, et al., 2016). She is a Fellow of the British Academy and the Academy of Medical Sciences, past-President of the International Society for Autism Research (INSAR; 2013-2015), and has received the British Psychological Society Spearman Medal, the Experimental Psychology Society Prize and the Royal Society Rosalind Franklin Award.
Clinical research in the last decade has shown that early and intensive interventions dramatically decrease the social deficits and learning difficulties faced by children affected with Autism Spectrum Disorders (ASD). The first three years of life may indeed represent a “window of opportunity”, when therapeutic interventions yield the most optimal long-term benefits.
However, very little is known about early brain development in children with autism: when do the trajectories of brain development start to diverge between healthy children and those who will be later diagnosed with autism? What are the mechanisms by which early intensive intervention affects the brain development? As the autism spectrum is highly heterogeneous, can we distinguish different subgroups that will respond differently to treatment? Detailed information on the timing and nature of the neurodevelopmental disruption is critically required to improve therapeutic interventions for children affected with autism. To address these questions, we are recruiting a cohort of toddlers with autism in Geneva. We examine the trajectories of social, cognitive and cerebral development of children with ASD in the first years following diagnosis, to better understand how interventions can positively influence these trajectories. Our research protocol includes standardized behavioral and neurodevelopmental assessments, high- density EEG, epigenetics, as well as innovative eye-tracking paradigms.
In this presentation, I will summarize the results obtained so far using these techniques in the Geneva cohort with a particular emphasis on the development of social cognition.
Prof. Marie Schaer
SNSF Professorship “Measuring trajectories of cerebral development associated with autism in the first years of life”, University of Geneva
Médecin Adjoint agrégée, responsable du Centre de Consultation Spécialisé en Autisme, Geneva
Ongoing research projects & collaborations
Image processing and brain morphometry for:
- children with neurodevelopmental disorders, with S. Eliez, Geneva University, Switzerland
- squirrel monkeys’ brain, with AF. Schatzberg and DM. Lyons, Stanford University, USA
- patients with combat-related PTSD, with SH. Woodward, Stanford University, USA
- in utero fetal brains, with L. Guibaud, CHU Lyon, France
- large cohort of patients with schizophrenia, with I. Agartz, University of Oslo, Norway
- patients with microcephalia vera, with A. Verloes, Hôpital Debré, Paris, France
- patients with neurological diseases (migraine, narcolepsy...), University of Zürich, Switzerland
- children with autism and at risk for autism, with C. Nordahl & D. Amaral, UC Davis (USA)
Own produced algorithms for quantifying local cortical gyrification were fully implemented within the
FreeSurfer software, with B. Fischl, Harvard University and Massachusetts Institute of Technology,
Development of tools for structural brain imaging in autism and other neurodevelopmental disorders,
including modeling of trajectories in brain maturation using longitudinal MRI data, and development of
connectivity index based on DTI
Leading a clinical research project measuring changes in biological correlates associated with
therapeutic intervention in toddlers with autism (longitudinal design, eye-tracking, EEG, epigenetics)
Privat Docent of the Geneva School of Medicine
Maître assistant (50%), Office Médico-Pédagogique, leading the neuroimaging part of the “Behavioral psychiatry & Neuroimaging” research unit (head: Prof. Stephan Eliez)
MD thesis supervised by Dr. C. Baumann, “Cortical morphometry in narcolepsy with cataplexy”, Zürich University School of Medicine
Lemanic Neurosciences doctoral school, MD-PhD program; PhD thesis supervised by Prof. S. Eliez (Service-Médico-Pédagogique, Psychiatry Department, Geneva) & Prof. J.-P. Thiran (Signal Processing Laboratory, EPFL, Lausanne), entitled “Understanding psychosis through cortical complexity: An MRI study 22q11.2 deletion syndrome”
Federal Medical Diploma, Faculty of Medicine, Geneva
Faculty of Medicine, Geneva University
Residency in Child Psychiatry, Office Médico-Pédagogique, Geneva
10/2009 – 09/2010
Residency in Neurology, Zürich University Hospital
10/2008 – 09/2009
Residency in Adult Psychiatry, Alizé Unit, Belle-Idée Hospital, Geneva
08/2004 - 09/2004
Elective in Pediatric, Riviera Hospital, Vevey
05/2004 - 07/2004
Elective in Internal Medicine, Geriatric Hospital, Chêne-Bourg, Geneva
02/2004 - 03/2004
Elective in Community Medicine, Dharan, Nepal
10/2003 - 12/2003
Elective in Child Psychiatry, Child Psychiatry Department, Champel, Genève
Elective training as an assistant in an orphanage, India
10/2001 - 4/2003
Assistant, Clair-Bois home for patients with cerebral palsy, Geneva
10/2001 - 9/2002
Night assistant for EEG monitoring, sleep laboratory, Belle-Idée Hospital, Geneva
Community medicine’s work: “Management of autistic children in Geneva”
07/1999 - 08/1999
Horse assisted Therapy with psychotic children, Belgium and France
Projects funded as main investigator or as co-investigator
Support from the Schmidheiny Foundation to acquire the Observer XT software, for fine analyses of behaviors (CHF 17'807)
Main investigator on the STARTER Grant from the HUG Foundation together with Camilla Bellone (co-PI with equal funding distribution), for the grant “From mouse to human: understanding neural mechanisms of social attention processes in autism” (CHF 100’000 per investigator)
07/2016 – 06/2020
Main investigator (SNSF-Professorship) for the grant “Measuring trajectories of cerebral development associated with autism in the first years of life”
09/2015 – 08/2018
Co-investigator on the SNF Funding “From schizotypy to clinical high-risk for psychosis: an integrative longitudinal study”. Principal Investigator: Martin Debbané
10/2014 – 09/2018
Main investigator to lead the clinical cohort of young children with autism of the NCCR Synaptic basis of mental diseases funded by the Swiss National Science Foundation with matching funds offered by the Fondation Pôle Autisme
10/2013 – 09/2014
Main investigator for the continuing of the pilot project “Social enrichment in autism, a translational project” supported by the NCCR Synaptic basis of mental diseases funded by the Swiss National Science Foundation
10/2012 – 09/2013
Main investigator for the pilot project “Social enrichment in autism, a translational project” supported by the NCCR Synaptic basis of mental diseases funded by the Swiss National Science Foundation