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Diagnostic Procedure

Autism spectrum disorders (ASD): diagnosis according to ICD-11/DSM-V 

The ICD (International Statistical Classification of Diseases and Related Health Problems of the World Health Organization (WHO)) and the DSM (Diagnostic and Statistical Manual of Mental Disorders, currently 5th version “DSM-V”) are classification systems in which clear and unambiguous criteria for ASD are described. At the beginning of 2022 the German version of the ICD-11 was published, however in the authorities and hospital everyday life the ICD-10 is still valid. 

Autism spectrum disorders (ASD) are classified in ICD-10 in Chapter V (Mental and behavioral disorders; F00-F99) under code F84 as profound developmental disorders.  

“The terminology of Profound Developmental Disorders was intended to make clear that it is an enduring, severe, multiple domain disorder, thus affecting the entire developmental course.” (Freitag et al., 2017, p. 4) 

Not all of the profound developmental disorders listed are part of an autism spectrum disorder. In ICD-10, the following groupings map to ASD: 

The ICD-11 refrains from such a clear-cut subdivision, as it was made in the ICD-10, due to the fluid boundaries within the autistic spectrum.  

In the DSM-V, which is mainly used in English-speaking countries, autism is already classified under the code 299.00 as an autism spectrum disorder without subgroups. In addition, different degrees of severity of the occurring symptoms are described. The eleventh version of the ICD follows this approach. 

In the ICD-11, autism spectrum disorders are classified under the code 6A02. Further information about the classification of an ASD in the ICD-11 can be found under the following link:  

https://icd.who.int/browse11/l-m/en#/http%3a%2f%2fid.who.int%2ficd%2fentity%2f437815624

In order to explain the disorder pattern of an ASD, the three-part structure from the ICD-10 is still suitable: 

Early childhood autism: 

  • Impaired development before the age of three 
  • Abnormalities in social interaction 
  • Abnormalities in communication 
  • Stereotypical, repetitive behavior patterns and interests 

Asperger’s Syndrome: 

  • No language or cognitive developmental delay 
  • Abnormalities in social interaction 
  • Stereotypical and repetitive behavior patterns and interests 

Atypical autism: 

  • Impaired development before/at/after the age of three 
  • Abnormalities in social interaction and/or 
  • Abnormalities in communication and/or 
  • Stereotyped, repetitive behavior patterns and interests 

The diagnosis of “atypical autism” is problematic from a professional point of view, because it also includes people who do not fulfill the core criteria of autism; it often represents a misdiagnosis. 

For a more in-depth discussion of the topic, we recommend the interdisciplinary S3 guidelines of the DGKJP and the DGPPN as well as those of the participating professional societies, professional associations and patient organizations (AWMF 2016). https://www.awmf.org/leitlinien/detail/ll/028-018.html 

Implementation of diagnostics 

In the diagnostic process, various examinations, screening instruments and clinical test procedures are used. The performance of a differential diagnosis is of particular importance in order to be able to distinguish ASD from other developmental disorders. This means that in addition to the actual examination to diagnose autism, some complementary and adjacent examinations are performed for further clarification and to rule out other explanations for the symptoms and behaviors.  

The diagnostic process usually includes the following steps: 

  1. medical diagnostics (vision and hearing tests, physical examinations, and human genetic testing if necessary)
  2. anamnesis/psychological examination from the time before birth to current time (autism-specific test procedures, general psychopathology, interviews, disorder-specific diagnostics if necessary) 
  3. intelligence/developmental diagnostics (language development tests if necessary)

Medical diagnostics 

Since autism often occurs with other disorders or clinical pictures (‘comorbidities’), additional medical examinations may be necessary. These include, for example, the recording of brain waves by EEG, imaging procedures (such as CT and MRI) or chromosome examinations. Possible comorbidities, some of which occur in combination with ASD, are epilepsy, ADHD, obsessive-compulsive disorder, depression, social phobias and intelligence impairment. In some cases these are also differential diagnoses. 

Autism-specific diagnostics 

In the context of autism-specific diagnostics, standardized test procedures are used as the so-called “gold standard” in addition to the clinical-psychiatric examination. This primarily refers to the ADI-R and ADOS-2. The ADI-R is a very comprehensive diagnostic interview for autism, in which relatives describe the behavior of the affected person, while the ADOS-2 is a diagnostic observation scale for autistic disorders, which describes the behavior in certain situations that differ from the ADOS depending on the age group. (Further Information under Screening Instruments

Intelligence and developmental diagnostics 

In addition to autism-specific diagnostics, supplementary developmental and intelligence tests as well as other specific observation and testing procedures are used. For example, IQ tests such as the WPPSI-III, the HAWIK-IV, or the K-ABC can be used. In the case of non-verbal persons, IQ testing with the SON-R can be used. IQ test scores may be biased in individuals with ASD, particularly due to the following characteristics: 

  • Lack of understanding of instruction and/or language 
  • Lack of reaction and readiness due to unfamiliar environment and new/unpleasant stimuli (overload), such as smells, sounds, light conditions, etc. 

If severe irritation or overload is suspected, testing should be discontinued if necessary and repeated at a later time.

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Diagnostic tools/screening instruments

There are a number of special procedures that can be used to establish a diagnosis. A distinction must be made between diagnostic tools and screening instruments. Screening tools provide only an initial indication of a possible ASD, while diagnostic tools are used to confirm a suspected ASD.  

ADI-R

“For some time, the comprehensive Diagnostic Interview for Autism – Revised (ADI-R) has been considered the standardized interview instrument of choice in clinical and research settings for the assessment and differential diagnosis of autism spectrum disorders.”

(Bölte et al., 2006)

The ADI-R can be used for psychiatric status diagnosis as well as for intervention planning. It contains a total of 93 items: 

  • on early childhood development 
  • language acquisition and possible loss of language skills 
  • verbal and nonverbal communicative skills 
  • play and social interaction behavior 
  • stereotyped interests and activities 
  • comorbid symptoms 

(Bölte et al., 2006). 

When observing and assessing behavior, the following three areas are particularly important: 

Communication

This is not only about whether and how well the person with ASD can speak, but also about how they communicate non-verbally, for example, how they behave when they want something from someone. 

Social Interaction

Here, particular attention is paid to behavior in contact with peers and with adults, especially parents and therapists.

Play Behavior

This is about the behavior in fantasy, role-playing and as-if games. People with ASD usually show great difficulties with this kind of games compared to their peers.

Areas: Early childhood development, language, communication, play and interaction behaviors, stereotyped interests/activities, comorbid symptoms.  

Age: from developmental age ~2 years  

Type: diagnostic procedure, parent interview 

ADOS-2

“ADOS-2 is a reliable, valid and clinically very descriptive procedure for the clarification and classification of qualitative abnormalities of social interaction and reciprocal communication in terms of autism. The structured rating scale has rich examination material and belongs to the international standard of diagnostics of autistic spectrum disorders. Depending on the age and language level of the respective patient, one of five examination strategies (modules) is selected in order to be able to examine facts and symptoms relevant to the diagnosis of autism on the basis of purposefully staged playful elements, activities, and conversations.”

(Poustka et al., 2015)  

Areas: Communication, social interaction, play behavior 

Age: from 12-30 months (toddler module: for children who do not use continuous sentences) 

Type: diagnostic procedure, observation scale 

PEP-R

To support developmentally disabled children or children from the autistic spectrum, the Psychoeducational Profile – Revised (PEP-R) “Developmental and Behavioral Profile” (Schopler et al. 2018) can be used as a support diagnostic procedure for children from 6 months to 7 years. With the help of the PEP-R, both a developmental and a behavioral profile can be created. The developmental profile contains the following developmental areas:  

  • imitation 
  • perception 
  • fine motor skills 
  • gross motor skills 
  • eye-hand integration 
  • cognitive performance 
  • linguistic performance 

The behavioral profile includes the following four behavioral domains: 

  • language 
  • social relatedness and affectivity 
  • sensory reactions 
  • play and interest in materials 

During the test, the test administration observes the child and evaluates the child’s performance and behavior. The test administration can choose between the following evaluation options: “proficient”, “partially proficient”, “not proficient”, “adequate”, “moderately conspicuous”, “highly conspicuous”. In the test manual, these evaluation options are clearly defined, adapted to the respective task. With the help of the developmental profile, the test administration can calculate the current developmental age and the difference to the child’s age. The materials and test items, as well as the flexible way in which they are administered, are adapted to the specific characteristics of the children. The PEP-R is suitable for developmental diagnostics (pre- and post-testing) and at the beginning of a support measure in order to provide initial indications for meaningful support planning tailored to the child. 

Areas: imitation, perception, fine/gross motor skills, eye-hand integration, cognitive & verbal performance, motivational skills, behavioral problems 

Age: from 6 months – 7 years 

Type: screening instrument, observation scale

SRS

The “Skala zur Erfassung sozialer Reaktivität – Dimensionale Autismus-Diagnostik” (Bölte & Poustka, 2007) is also a parent questionnaire for the assessment of social, communicative and rigid behaviors in children and adolescents aged 4 to 18 years. It is particularly suitable for identifying and assessing the severity of ASD.  

Areas: social, communicative, rigid behaviors 

Age: 4-18 years 

Type: screening Instrument/dimensional diagnostics

FSK

The Social Communication Questionnaire – Autism Screening (FSK) (Bölte & Poustka, 2006) is used to assess not only conspicuous social interaction and communication patterns but also stereotypical behaviors. The FSK can be used in cases of suspected autism spectrum disorders from the age of 4;0 years or a developmental age of at least 2;0 years.  

Areas: social interaction, communication, stereotypical behaviors 

Age: from 4 years or developmental age from 2 years  

Type: screening instrument, questionnaire

SEAS-M

Another instrument is the Scale for the Assessment of Autism Spectrum Disorders in the Intellectually Impaired (SEAS-M) (Kraijer & Melchers, 2003). The scale assists both in the diagnosis of profound developmental disorders and in a planning of treatment, support, and care for intellectually impaired children, adolescents, and adults aged 2 to 70 years. The assessment is based on observations in everyday situations (by e.g. educators, physicians, psychologists) (Kraijer & Melchers, 2003). 

Areas: Symptomatic behaviors in everyday life 

Age: 2 – 70 years 

Type: Screening instrument, observation questionnaire

M-CHAT

Another screening tool for early detection of ASD is the Modified Checklist for Autism in Toddlers (M-CHAT) (Robins et al., 2001). M-CHAT is a brief parent questionnaire and can be used from 24 months of age.  

Areas: Imitation, Social interaction/communication, Physical skills/motor skills, Imagination, Stereotypical behavior.  

Age: from 2 years 

Type: screening instrument, parent questionnaire

ASAS

A screening instrument for Asperger’s syndrome is the Australian Scale for Asperger ́s Syndrome (ASAS) (Garnett & A. J. Attwood, 1998). It is a parent questionnaire.  

Areas: social and emotional skills, communication, cognitive skills, special interests, motor skills, other characteristics. 

Age: Elementary school age 

Type: Screening instrument, parent questionnaire

EBI

The Parent Stress Inventory (EBI) (Tröster, 2010) can be used to assess parental stress. The EBI is based on the one hand on the child’s characteristics and behaviors, and on the other hand on the limitations of parental functions, both of which can lead to considerable stress in everyday life and impair the parent-child relationship. 

Areas: Sources of stress from child/children’s behavior (child’s distractibility/hyperactivity, acceptability, demand, adaptability, and mood), limitations of parental functioning (attachment, social isolation, doubts about parental competence, depression, health, personal limitation, partner relationship). 

Type: Screening instrument, self-report questionnaire 

References: 

AWMF (2016): Autismus-Spektrum-Störungen im Kindes- Jugend- und Erwachsenenalter. Teil 1: Diagnostik. Interdisziplinäre S3-Leitlinie der DGKJP und der DGPPN sowie der beteiligten Fachgesellschaften, Berufsverbände und Patientenorganisationen. AWMF Registernummer 028-018. Textstand der Leitlinie 23.2.2016. Verfügbar unter: https://www.awmf.org/leitlinien/detail/ll/028-018.html

AWMF (2021): Autismus-Spektrum-Störungen im Kindes- Jugend- und Erwachsenenalter. Teil 2: Therapie. Interdisziplinäre S3-Leitlinie der DGKJP und der DGPPN sowie der beteiligten Fachgesellschaften, Berufsverbände und Patientenorganisationen. AWMF Registernummer 028-047. Textstand der Leitlinie 2.5.2021. Verfügbar unter: https://www.awmf.org/leitlinien/detail/ll/028-047.html. Zugriff am 29.03.2022. 

Bölte, S., Rühl, D., Schmötzer, G. & Poustka, F. (2006): ADI-R. Diagnostisches Interview für Autismus-Revidiert. Deutsche Fassung des Autism Diagnostic Interview- Revised von Michael Rutter, Anne Le Couteur und Catherine Lord. Göttingen: hogrefe. 

Bölte, S. & Poustka, F. (2006): Fragebogen zur Sozialen Kommunikation – Autismus-Screening. Deutsche Fassung des Social Communication Questionnaire (SCQ) von Michael Rutter, Anthony Bailey und Catherine Lord. Göttingen: hogrefe. 

Bölte, S. & Poustka, F. (2007): SRS. Skala zur Erfassung sozialer Reaktivität – Dimensionale Autismus-Diagnostik. Deutsche Fassung der Social Responsiveness Scale (SRS) von John N. Constantino und Christian P. Gruber. Bern: Verlag Hans Huber. 

Garnett, M. S., Attwood, A. J. (1998): The Australian Scale for Asperger’s Syndrome. In: Attwood (Ed.), Asperger’s Syndrome: A guide for parents and professionals. London: Kingsley. S. 17-19. 

Freitag, C. M., Kitzerow, J., Medda, J., Soll, S. & Cholemkery, H. (2017): Autismus-Spektrum-Störungen. Göttingen: hogrefe. 

Kraijer, D.W. & Melchers, P. (2003): SEAS-M. Skala zur Erfassung von Autismusspektrumstörungen bei Minderbegabten. Leiden: Pits. 

Poustka, L., Rühl, D., Feineis-Matthews, S., Poustka, F., Hartung, M. & Bölte, S. (2015): Diagnostische Beobachtungsskala für Autistische Störungen – 2. Deutschsprachige Fassung der Autism Diagnostic Observation Schedule – 2 von C. Lord, M. Rutter, P.C. DiLavore, S. Risi, K. Gotham und S.L. Bishop (Module 1-4) und C. Lord, R.J. Luyster, K. Gotham und W. Guthrie (Kleinkind-Modul). Bern: Verlag Hans Huber. 

Robins, D., Fein, D., Barton, M. & Green, J. (2001): The Modified Checklist for Autism in Toddlers: An initial study investigating the early detection of autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders. 31. S. 131-144. 

Schopler, E. Reichler, R.J., Bashford, A., Lansing, M.& Marcus, L. (2018): PEP-R- Entwicklungs- und Verhaltensprofil. Überarbeitete Neuausgabe. Dortmund: Verlag Modernes Lernen. 

Tröster,H. (2010): Eltern-Belastungs-Inventar. Deutsche Version des Parenting Stress Index (PSI) von R. R. Abidin. Göttingen: hogrefe.