What is the process of diagnosing autism

Autism spectrum disorder: research network improves diagnostics

Autism spectrum disorders, short ASD for the English name Autism Spectrum Disorder, are developmental disorders in which social interaction is particularly impaired. Affected people show abnormalities in social communication, language and facial expressions, for example. In addition, there are restricted, stereotypical behaviors. Depending on the severity, these symptoms can affect the everyday life of those affected and their families to a greater or lesser extent. The parents of autistic children usually notice characteristic deviations in behavior as early as infancy, but the actual diagnosis is often only made much later. In special cases it can take up to ten years for ASD to be clearly diagnosed.

"This is also due to the fact that most families have already completed a veritable diagnostic marathon before they - usually much too late - present themselves to an institution specializing in ASD," says Professor Dr. Inge Kamp-Becker. She heads the special clinic for ASD at the Marburg University Clinic for Child and Adolescent Psychiatry and coordinates the ASD-Net research association funded by the Federal Ministry of Education and Research (BMBF). Another reason is the lengthy diagnostic process. It takes place in three stages: via standardized behavioral observations, a specific interview with relatives and a psychological, neurological and child and adolescent psychiatric examination. It is also important to differentiate the clinical picture from other developmental and behavioral disorders.

ASD-Net

Mental illnesses represent a considerable burden for those affected and their relatives. With the “Research Network for Mental Illnesses”, the Federal Ministry of Education and Research (BMBF) supports psychiatric research in Germany and has been funding nine research associations with a total of up to 52 million euros since 2015. The ASD-Net is one of these nine research networks. It comprises Germany's leading experts in terms of both clinical and scientific competence in the field of ASD.

Artificial intelligence shortens the long way to diagnosis

Kamp-Becker and her team from ASD-Net want to shorten the time to diagnosis and thus often also to the start of therapy. The following applies to younger children: the sooner ASD can be treated, the more successful the later social integration of the adolescents will be.

To this end, the researchers analyzed data from 2,600 patients who were uniformly examined in accordance with current guidelines using artificial intelligence and machine learning approaches. The aim: To identify those behavioral aspects with which the most reliable diagnoses can be made and which can quickly and reliably differentiate between ASD and other mental disorders. "We found out that deviations in gaze behavior, socially oriented facial expression and social gestures are essential aspects of behavior at ASD, and we now want to underpin this with objectifiable measurement methods," says Kamp-Becker.

Scientifically proven treatment

ASD is not curable, but behavioral and educational treatment methods can improve socio-communicative skills and everyday skills and significantly increase the quality of life of those affected and their families. Medicines for the successful treatment of the core symptoms do not yet exist. However, the endogenous hormone oxytocin is considered a promising candidate for drug therapy because it could improve the social interaction of people with ASD. The messenger substance, also known as the cuddle or bonding hormone, increases awareness of social stimuli and reduces the perception of stress. In addition, it has a positive influence on empathy. Taking oxytocin is relatively simple: it can be given as a nasal spray.

In the ASD-Net, the effectiveness of oxytocin on social impairment in ASD is being tested in two ongoing clinical studies. For example, it is recorded how autistic adults perceive and experience emotions in social situations, which processes in the brain are decisive and to what extent oxytocin influences these factors. A large intervention study is testing whether the effectiveness of social skills training in the group can be increased if the young participants take a nasal spray with oxytocin before the group lessons. Imaging techniques, such as magnetic resonance imaging, are used to examine potential changes in brain activation before and after exercise. In addition, neurobiological markers for the success of the treatment are sought in order to be able to make a prediction about which participants will benefit particularly well from the combination of training and oxytocin. The studies are currently being evaluated. Results are expected later this year.

“If oxytocin proves effective, it could support therapies. That would definitely have a positive effect on the treatment of ASD, ”says Kamp-Becker.
 

Original publications:
Kamp-Becker I, Poustka L, Bachmann C, et al. Study Protocol of the ASD-Net, the German research Consortium for study of Autism Spectrum Disorder across the lifespan: from a better etiological understanding, through valid diagnosis, to more effective health care. BMC Psychiatry. 2017 June 2; 17: 206-220 doi: 10.1186 / s12888-017-1362-7.

Küpper C, Stroth S, Wolff N, et al. Identifying predictive features of autism spectrum disorders in a clinical sample of adolescents and adults using machine learning. Sci Rep. 2020 March 18; 10, 4805 doi: 10.1038 / s41598-020-61607-w.

Contact person:
Prof. Dr. Inge Kamp-Becker
Clinic for child and adolescent psychiatry, psychosomatics and psychotherapy
Hans-Sachs-Strasse 4
35039 Marburg
[email protected]