Major and chronic diseases
Autistic Spectrum Disorders (ASD)
Autism (or “classical autism”) is a neurodevelopmental disorder characterized by deficiencies in social interactions and communication skills, as well as repetitive and stereotyped patterns of behaviour It is one of a group of developmental disorders known as autism spectrum disorders (ASDs). Biochemical, anatomical and neuroradiographical studies suggest a disturbance of brain energy metabolism in autistic patients, although its cause is still unknown.
Autism is characterised by three distinctive types of behaviour – difficulties with social interaction, problems with verbal and nonverbal communication, and repetitive behaviour or narrow, obsessive interests. The impact of these can range from mild to disabling.
The hallmark feature of autism is impaired social interaction. Parents are usually the first to notice symptoms of autism in children. Even in infancy, a baby with autism may be unresponsive to people, or focus intently on one item to the exclusion of others for long periods. A child with autism may appear to develop normally and then withdraw and become indifferent to social contact. Many children with autism have a reduced sensitivity to pain, but are abnormally sensitive to sensations such as sound, touch, or other sensory stimulation. These unusual sensitivities may contribute to behavioural symptoms such as a resistance to being cuddled or hugged (US National Institute of Mental Health).
Other ASDs include Asperger's syndrome, Fragile X Syndrome, Landau-Kleffner Syndrome, Rett syndrome, Childhood disintegrative disorder, and PDD-NOS (pervasive developmental disorder not otherwise specified). Recent research has shown that many people with autistic behaviour have related but distinct disorders.
There is no cure for ASDs. For many children, their symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Therapies and behavioural interventions can target specific symptoms and bring about substantial improvement. In contrast to 20 years ago, when many autistic individuals were institutionalised, there are now many flexible solutions. Usually, only the most severely affected individuals live in institutions.
Aware of the health and social implications of ASD, the European Commission has specifically included them in its public-health work plans since 2005.
Prevalence and early detection of Autism Spectrum Disorders (ASD) in the EU
The European Commission has drawn some preliminary conclusions on the prevalence of ASD in the EU based on the scarce data available – EU epidemiological studies, information from the US, EU statistical and health information, and expert opinions – and prepared in 2005 a first report: See The prevalence of Autism Spectrum Disorders (ASD) in the EU
Nowadays it could be considered that ASD affects approximately 0.62–0.70% of the population, although estimates of 1–2% have been made in the latest large-scale surveys. Over the past 30 years, the number of reported cases of ASD has been increasing rapidly. This increase of ASD cases has been partly explained as a result of changes in diagnosis and classification criteria, early diagnosis, the better awareness and recognition, the type of areas studied (rural vs urban areas) and also possible differences across countries. However, it has not been possible to rule out an increase of the ASD incidence due to the influence of some environmental risk factors. On the other hand, ASD representative organizations request better services to their national authorities across the EU and it is expected that in the coming years the increasing political pressure will force governments to respond appropriately to this demand. The lack of mechanisms to obtain consistent and reliable information about ASD trends at the European level could be an important obstacle for making decisions.
In 2015 the European Commission has launched the project ASDEU (Autism Spectrum Disorders in the European Union) in order to establish an Estimation of the prevalence, definition of different subtypes of ASDs in the European Union and estimation of related social and economic burden, as well as a protocol for early detection of ASDs in children and adequate interventions.
European Union public health actions in the field of ASD
The European Autism Information System (EAIS)
In 2005 the European Commission decided to support the creation of a European Autism Information System (EAIS), with the Hope Project (Ireland) as project leader.
Characteristics of Autism Spectrum Disorders (ASD) in Europe
This area of work was fundamental to the overall aim of the EAIS project as it is directly linked to its main objective to develop mechanisms for obtaining systematic, reliable and consistent data on ASD in Europe. The lead organisation in the component analysing prevalence, the Fundación para la Salud y Cooperación Internacional Carlos III in Spain, set out with two main objectives, therefore:
- to develop a study design for ASD prevalence at European level;
- to define a strategy to implement a pilot study for estimated prevalence at European level.
- See European Autism Information System (EAIS) - Report on the ‘Autism Spectrum Disorders Prevalence Data and Accessibility to Services’ Questionnaire (Q-EAIS)
- See ASD services in Europe: a pilot experience of the EAIS Project
As a result of these efforts, a modified questionnaire on health care, educational and social facilities and patients’ organisations for ASD was completed. It has also finalised a checklist of criteria for selecting pilot areas for ASD prevalence studies which will assist EAIS collaborating and associated partners in assessing whether or not their country or specific regions or areas in their country would be at an acceptable state of preparedness to participate in a prevalence study in Europe.
- See Design of a Prevalence Study Questionnaire on health care, educational and social facilities and patients’ organizations for Autism Spectrum Disorders (ASD) - EAIS Project
- See Pilot Prevalence Study: Checklist of criteria for selecting pilot areas and exploring difficulties- EAIS Project
Design of a European Protocol for Autism Spectrum Disorder Prevalence (EPAP)
The questionnaire, checklist and summary report of the EAIS survey contributed to the elaboration of a broad-based document which proposes a comprehensive strategy to develop, implement and follow-up an ASD prevalence study in Europe. The Protocol emphasises the need for prevalence to be measured and analysed on a broad European scale and sets out the design criteria and characteristics of a European-wide prevalence study.
- See Designed strategy for a prevalence study in Europe: EAIS Proposal
- See Proposal for the "European Protocol for Autism Spectrum Disorder Prevalence" (EPAP) - EAIS Project
Measuring the economic burden of ASD
Calculating the financial burden is a complex and complicated process as it needs to take into account a wide range of factors related to the challenge of providing health and other primary and secondary care to individuals suffering from ASD. These disorders have potentially enormous implications for the lives of affected individuals and their families. In fact, the consequences of ASD can often be seen in many domains, including family and other relationships, employment, leisure activities, standards of living, social and personal functioning, and of course an individual’s and a family’s quality of life more broadly. King’s College UK adapted a scoping questionnaire to assess economic burden as part of the EAIS project to address the need for improved knowledge of the impact of ASD in Europe.
Harmonised early-detection tool
The issue of early detection, leading to early diagnosis, is a key element in the treatment of children with ASD given that early and intensive education can help children to develop and learn new skills. It is vital for the benefit of the child and her or his parents and family, as well as in reducing the potential long-term cost to the public health system in terms of subsequent rehabilitation and care, to develop early detection tools. The overall objective of this work was to draw up guidelines for early detection on the basis of a comprehensive analysis of existing tools and methodologies. In preparing for a detailed study on this subject, the following instruments were identified for consideration and review by Ulss20 Verona:
- Checklist for Autism in Toddlers (CHAT)
- CSBS-DP (Communication and Symbolic Behaviour Scales Developmental Profile)
- ESAT (Early Screening for Autistic Traits)
- M-CHAT (screening tool for early detection of autism)
- PIA-CV (Parent Interview for Autism-Clinical Version)
- STAT (Screening Tool for Autism in Two-Year-Olds)
These different tools measured a range of indicators in children’s development which are particularly impaired in autism and that could be divided into four specific categories: (1) language and communication; (2) social interaction; (3) play; and (4) behaviour. On the basis of 50 case studies, Ulss20 tested the different diagnostic tools and compared their results. It was concluded that there was coherence and harmony between the six diagnostic tools.
European network of surveillance on risk factors for autism and cerebral palsy (ENSCAP)
The EU project European network of surveillance on risk factors for autism and cerebral palsy (ENSCAP) coordinated by the Aarhus Universitet (Denmark) was selected for funding in 2006. An increasing number of children are diagnosed with cerebral palsy (CP) and in particular autism spectrum disorders (ASDs). CP is one of the most severe physical disabilities in childhood affecting 2–3 ‰ of newborns. ASD is the most common psychiatric diagnose in childhood affecting 3-6‰ of newborns. Early detection of ASD and CP children improves the prognosis and quality of life for child and family. Synchronised information data systems from five regions in the EU will form a knowledge base and information network for pre- and perinatal risk factors for ASD and CP. ENSCAP will define pre- and perinatal risk factors for ASD and CP. Also, the network will form guidelines for identification of ASD and CP risk factors for public health workers, researchers and clinicians.
- See Final Report of the European network of surveillance on risk factors for autism and cerebral palsy (ENSCAP)
Autism Spectrum Disorders in the European Union (ASDEU)
Autism Spectrum Disorders in Europe (ASDEU) is a new, trans-European project starting in 2015, led by the Instituto de Salud Carlo III from Spain, involving university, charities and expert institutions to increase understanding of autism.
The specific objectives of the project are:
- To apply a public health model to ASD focused on prevalence estimation methods, early detection programs and the improvement of early diagnosis and intervention.
- The creation of a new European evidenced-based framework that will improve the care for both adults and elder people with ASDs.
These aims are focused on the three major dimensions of healthy living of people affected by ASDs:
- Estimation of the prevalence, definition of different subtypes of ASDs in the European Union and estimation of related social and economic burden;
- Early detection of ASDs in children and adequate interventions;
- A comprehensive framework for adult with autism treatment and care. People with Autism Spectrum Disorders (ASDs) are at a greater risk of experiencing health problems as they get older. The increased longevity of persons with ASDs in industrialized countries leads to a need to define good practice on how to detect such conditions at an early stage and guidance to prepare appropriate frameworks for treatment, care and integration.
European Union research actions in the field of ASD
The 7th Research Framework Programme is supporting from 2013 a research project on European Autism Interventions – a Multi-centre Study for Developing New Medications (EU AIMS). This is the largest ASD study ever conducted in the world. It is aimed at developing potential treatments, and provides a research network that can rapidly test new treatments.
There are no effective pharmacological treatments for the core symptoms of autism spectrum disorder (ASD), and our understanding of the pathophysiology of the disease is poor. Research is hampered by a lack of valid and reliable cellular assays and animal models; an absence of tests that demonstrate efficacy in healthy volunteers from childhood to adulthood; and the reliance of clinical trials on biologically heterogeneous groups of patients as operationally-defined by DSM/ICD10 categories. Further, even if novel treatments were developed, there is no EU platform to test them clinically. Despite these limitations, the recent identification of genetic risk factors for ASD provides unique opportunities to substantially improve this situation. We therefore propose an integrated, translational, effort to achieve key objectives for ASD research, which will deliver new research tools and standards for clinical development, and pave the way for drug discovery and clinical trials.
Support to research on autism has been provided by the Seventh Framework Programme (FP7, 2007-2013) to 63 research projects for some EUR141 million, on exploration of the underlying mechanisms and development of new technological solutions for the training and better inclusion of the affected individuals.
Under Horizon 2020, the Framework Programme for Research and Innovation (2014-2020), research on autism has received support for an amount of some EUR 24 million allocated to 21 research projects. These projects are continuing previous efforts to improve the understanding of the underlying mechanisms but also focus, among others, on social training for the affected individuals and legal impacts of neurodiversity.