Diagnostics - MigrAVE

Importance of a sound diagnosis

When the presence of an autism spectrum disorder (ASD) is first suspected, a specific diagnosis is recommended. The comprehensive and multidimensional examination process can confirm or exclude the diagnosis of ASD, clarify possible differential diagnoses and/or possible comorbidities (parallel, autism-independent health problems).

For the diagnosis, it is imperative to visit qualified diagnostic institutions familiar with ASD, such as clinics, outpatient clinics and practices for child and adolescent psychiatry, specialized practices for psychotherapy and social pediatric centers. Family physicians are usually not familiar enough with the topic of ASD and the diagnostics to be able to make a reliable diagnosis. With a confirmed ASD diagnosis, the further path for the child/the affected person can be planned. In addition, it makes it possible to better understand the behavior of the child/affected person and to classify the individual impairments in the areas of social interaction, communication and stereotypical and repetitive behaviors. Thus, individual requirements for therapy can be derived in a targeted manner and the child/affected person can be supported in their development in the best possible way. Furthermore, a diagnosis is the prerequisite for state support services, such as therapy within the framework of integration assistance, care allowance, etc. Alternative explanations for the behaviors displayed by the children/affected persons should also be ruled out in the diagnostic process. There are disorders such as ADHD, hearing difficulties, early schizophrenia, anxiety and obsessive-compulsive disorders, which can be similar to ASD in some aspects of the symptomatology. An early diagnosis of ASD is of particular importance for the development of the child/ the affected person. The individual autism-specific symptoms of the profound developmental disorder regularly manifest themselves in early childhood.

According to current scientific findings, early autism-specific behavioral therapy interventions are among the most promising therapeutic approaches (Remschmidt & Kamp-Becker, 2009; Weinmann et al., 2009, AWMF, 2016, AWMF, 2021). The earlier children/affected persons are specifically supported in their development, the more effectively the cognitive and neurobiological changes in brain can be compensated and essential learning prerequisites can be built up. Thus, the early use of scientifically based interventions such as autism-specific behavior therapy (AVT) and related procedures based on learning psychology principles can have a positive effect on the development and independence of the child/affected person. An early diagnosis can thus significantly improve the quality of life and social participation and enable a life that is as self-determined and independent as possible.

In order for children/ affected persons not to be stigmatized due to their diagnosis, comprehensive education of all interfaces of the living environment of children/ affected persons is required. Only if ASD is understood by all persons living and working with the child (daycare center, school, etc.), a fair and appropriate interaction can take place. If the perceptual peculiarities of people with ASD are misinterpreted and ignored or inappropriately responded to, this can have stressful effects for the children/affected persons.

Difficulties in early diagnosis

The early detection of an ASD requires extensive professional knowledge about the disorder. Frequently children with ASD remain undiagnosed in early childhood. This is especially true for girls and women. Here, the symptoms, which do not always coincide with the male gender, but also the lack of attention due to the gender distribution play a role. Not infrequently, the diagnosis is made years after the parents’ initial concerns and observations.

For the age group of 0 to 5 years, the following authoritative (early) symptoms are described in the NICE guidelines (2011) (cf. Freitag et al. 2017, AWMF, 2016):

Children regularly do not show prodeclarative pointing,
tracking of the gaze is absent, and
no “as-if play” can be detected

Further, the following diagnostic clues emerge from the literature:

<12 Monate

Currently, there are no sufficiently empirically validated characteristics for infancy that can also be implemented in everyday care.

From 12 months

No pointing gesture to share interest.
No wave gesture to say goodbye.
Lack of response to being called by name.
Lack of imitation.
Lack of eye contact.
Unusual exploration of objects.
No following of pointing gesture.
Infrequent social smiling.
Slowed flexibility in visual adaptation.
Preferences for geometric figures.

From 18 months

No pointing gesture to share interest.
Lack of eye contact.
Lack of following the gaze.
Lack of bringing to show something.
Lack of “so-doing-as-if play.”
No mimic response or eye contact when distressed by others.

From 24 months

No pointing gesture to share interest.
Lack of eye contact.
Lack of bringing to show something.
Lack of “so-doing-as-if” play.

If there are several clear autism-specific symptom indications, the child can be referred to an appropriate qualified diagnostic center for a diagnosis at the age of about 18-20 months (Freitag et al. 2017, AWMF, 2016).

Further information on diagnostics and early detection can be found in the interdisciplinary S3 guidelines of the DGKJP and the DGPPN as well as the participating professional societies, professional associations and patient organizations under the following link: https://www.awmf.org/leitlinien/detail/ll/028-047.html

Diagnostics Contact Points

As described above, autism diagnosis is a highly complex process that should be performed by experienced professionals familiar with the disorder. Scientifically proven procedures and testing instruments, such as the ADI-R (Diagnostic Interview for Autism – Revised) and the A-DOS-2 (Diagnostic Observation Scale for Autistic Disorders -2) should be used in the diagnostic process. (Diagnostic Procedures) Further information about contact points can be found here.

What to do if an autism spectrum disorder (ASD) is suspected

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