New Leads on Pathogenic Pathways and Cost-effective Evidence-based Care in Neurodevelopmental Disorders (NDD). A program by the Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND) and the Child and Baby Lab at Uppsala University.
The overall purpose of this program is to combine front-line basic research on pathogenic pathways with long-term applied efforts in order to improve clinical services and health cost efficiency in NDDs, particularly autism spectrum disorders (ASD). The program is a joint effort by KIND (Karolinska Intitute Center of Neurodevelopmental Disorders) and Child and Baby Lab (Uppsala University), creating synergies between clinical experts and basic infant research. It includes both theory and exploration-driven efforts. In order to ensure that we are aware of stakeholder/end users’ needs from the onset of the program, the aims have been reviewed by an interdisciplinary and transdisciplinary work group (TWG) within an ongoing process of exchange between researchers, clinicians, health care authorities, the industry, media, parents, and self-help organizations.
Approximately 10% of all children are affected by neurodevelopmental disorders (NDDs). NDD diagnoses have increased in recent years, posing an enormous and unsolved challenge to health care systems. This program focuses primarily on autism spectrum disorders (ASDs), but several subprojects include other NDDs, such as attention-deficit hyperactivity disorder (ADHD), intellectual disabilities, language disorders, dyslexia, and Tourette’s syndrome, as well as co-existing problems in NDDs, such as depression, aggression, malnutrition/eating disorders, and sleep problems.
ASD affects about 1% of the general population. Calculations from industrialized countries indicate that, for a person with ASD, lifetime societal costs for care, teaching, housing, and loss of productivity are between 10 and 16 million Swedish Crowns. In addition, parents of children with ASD typically spend up to a 1000 hours/year organizing support. ASDs are defined by disabling behavior in a triad of domains: reciprocal social interaction and verbal/nonverbal communication alongside stereotypic, repetitive, ritualized features and activities. The comorbidity is extensive. More than 80% of individuals with ASD show at least one additional psychiatric condition. ASDs are phenotypically, biologically, and etiologically heterogeneous. Evidence suggests largely genetic fundamentals, but the influence of bioenvironmental factors acting as triggers or “second hits” has probably been underestimated. Sufficiently sensitive or specific genetic or neurobiological markers are not yet available to establish an organic diagnosis of ASD, which would be particularly important for early detection and intervention. Moreover, no cure or effective biologically based treatments for core ASD symptoms are available.
The overall purpose of this program is to combine front-line basic research on pathogenic pathways with long-term applied efforts in order to improve clinical services and health cost efficiency in NDDs, particularly ASD. The specific aims are:
- Understand early neurodevelopmental trajectories to improve early detection and facilitate timely intervention (projects EASE and EXPRESS/NeoBic)
- Map the effects of genes and environment on brain, neurocognition, and dysfunctional behavior to generate new etiological and treatment leads (projects RATSS and LifeGene)
- Establish a national clinically based quality registry and brain tissue bank to enable evidence-based care, large-scale epidemiological studies, and collect specimens for neuropathological and epigenetic research (project REGBRAIN)
- Generate and evaluate standardized instruments for the assessment of the functional impact of NDDs on everyday life to support communication between experts, tailor intervention planning in school and family settings, and calculate health care and educational costs (project CORESET)
The transdisciplinary work group (TWG)
The TWG is intended to stimulate the knowledge integration process and involves scientists from different disciplines, clinicians, industry partners, and stakeholders. TWG members will assemble for annual meetings. Every second year these meetings will be attached to the already established national ASD meeting “Fokus på Autism”.
Dissemination of results to the scientific community will be ensured primarily by peer-reviewed scientific articles, multidisciplinary reviews, and participation in international conferences. Communication with end users (education and health care authorities and practitioners, caregivers, patients) will be provided through reports, appearances in the public media, presentations at national meetings, on our planned online forum, open conferences/seminar series, and through oral presentations to organizations’ boards represented in the TWG. The applicants have substantial experience raising public awareness via written media, TV/radio, online video clips and podcasts, and at conferences/meetings.
A Kierkegaard (Autism Society Sweden Stockholm)
A Sandberg (chairwoman, ADHD/NDDs society Sweden)
O Bengtsson (Division of child psychiatry, Stockholm County)
C Hjelm (director, Habilitation and Health, Stockholm County)
M Blennow (director, Child health, Stockholm)
K Dahlström (former director of Neuropediatrics, Karolinska University Hospital)
M-L Siverstrand (Health Care Management, Stockholm County Council)
T Granat (former director, Habilitation and Health, Uppsala)
F Müller (CEO, Qualisys, Göteborg)
Prof. G Bohlin (Dept. Psychology, Uppsala University)
Prof. M Heiman (Psychology Unit, Linköping University)
Dr. E Serlachius (Center for Psychiatry Research, Stockholm)
E Bech (CEO, Hogrefe Publishers, Sweden)
H Andersson (partner, Murman Architects, Stockholm)
N.N. (Neurodiversity subculture “organiserade Aspergare”)
A Hedås-Falk (principal, Sofia school, Stockholm)
M Spanner (Swedish Television).
Networks and collaborators
KIND and BABYLAB are well networked nationally and internationally, including within three large European Union projects:
- Innovative Medical Initiatives (IMI) “Translational Endpoints in Autism/ European Autism Interventions - A Multicentre Study for Developing New Medications
- European Cooperation in Science and Technology (COST); Action BM1004, Enhancing the scientific study of early autism: A network to improve research, services and outcomes”
- “Integrated Internet-Based Environment for Social Inclusion of Children with Autism Spectrum Conditions (ASC)” within the 7th Framework European Commission Research & Innovation.
A non-exhaustive list of respected collaborators for the program is:
- Profs. M Johnson, T Charman (London), L Zwaigenbaum (Edmonton), and C v Hofsten (Oslo), Dr. R Diatz-Heijtz (Stockholm) [EASE]
- Dr. U Ådén (Stockholm), Dr. Vollmer (Southhampton) [NeoBIC]
- Profs. P Lichtenstein, J Kere, M Nordenskjöld, L Farde, and H Forssberg, Drs. P Fransson and T Li (Stockholm), Profs. M Landén, H Anckarsäter (Göteborg), D Murphy (London), J Buitelaar (Nijmegen), S Baron-Cohen (Cambridge) [RATSS]
- N Petersen, G Pershagen (Stockholm) [LIFE-GENE]
- Sven Cnattingius (Stockholm), and C Graff (KI brainbank) [REGBRAIN]
- Alarcos Cieza (WHO ICF Research Branch,