Diagnosis in children: who, where, how?

First step: clarification when autism is suspected

According to an expert overview from 2024, once a suspicion has been raised (by caregivers, professionals, early-years educators or the person themselves), the first step should be a consultation at a (child and adolescent) psychiatric or social paediatric outpatient clinic or practice. There, case history, clinical observation and/or screening questionnaires are used. ^[3] Screening tools serve as an indication, not as a diagnosis. ^[3] Routine early check-ups (“U-Untersuchungen”) and the school entry examination can bring noticeable features to light. ^{[1, Ch. B.2.6.1]} On early signs: Early signs in infants and toddlers.

Second step: specialised service and team

• Specialised service: The comprehensive assessment is to take place at a service specialised in it. Among other things, this requires experience with specific diagnostic instruments, differentiation from other mental and physical conditions, an internal and neurological examination, psychometric testing of language and cognitive development, and advice on therapy, school and social matters. ^{[1, Rec. 17]}
• Team: The British source guidelines recommended assessment by a team (for example a paediatrician or child and adolescent psychiatrist, speech and language therapy, psychology). A small Swedish study found more accurate assessments in preschool children from a team than from individual assessors. ^{[1, Ch. B.4.2]}
• Free choice of doctor: The guideline stated that parents in Germany have free choice of doctor and can, for example, contact child and adolescent psychiatric specialist clinics directly. ^{[1, Ch. B.1.1]} On the practical question of referral and waiting time: Referral, costs and waiting times.

What the assessment includes

For children, the 2024 expert overview describes: a multidimensional assessment of development, language and intelligence, a physical and neurological examination, and – where the suspicion is confirmed – an autism-specific standardised assessment (observation and interview) as well as clarification of co-occurring conditions and other explanations. The process should be participatory and transparent. ^[3] Details: How an autism assessment works and ADOS-2, ADI-R and screening.

The 2016 guideline also stated: at least one close person who has known the child since early childhood is to be involved, along with reports from nursery and school as well as medical letters and test results. ^{[1, Rec. 18]} Possible hearing and vision impairments are to be ruled out. ^{[1, Rec. 31]}

How early is a diagnosis reliable?

According to the guideline, an autism spectrum diagnosis made before the age of two remains stable (evidence level 1). For a diagnosis between two and six years, just under 10 % of children no longer met the criteria after two years, mainly children with an initial diagnosis of Asperger syndrome or atypical autism. About 10 to 30 % of children with developmental concerns received an autism spectrum diagnosis within one to two years. ^{[1, Rec. 32]} On a consensus basis, it recommended: ^{[1, Rec. 33]}

• If the signs are clear, the diagnosis should be made and named even before the age of two.
• Children with developmental disorders should be monitored for autism throughout the preschool years.
• If the initial diagnosis in the preschool years was Asperger syndrome or atypical autism, the diagnosis should be checked again at the latest in the year before starting school.
• Before starting school, a multidimensional assessment of intelligence should be carried out for all children with autism spectrum disorder, provided the child cooperates; where clinically indicated, further areas of development are examined, in particular language.

The terms “Asperger syndrome” and “atypical autism” come from the former ICD-10; today they are grouped under autism spectrum disorder. ^[3]

After the diagnosis

The assessment should not end with the diagnosis: it includes an evaluation of strengths and difficulties in everyday life, the results are to be explained in detail to the legal guardians, and concrete, individual recommendations are to follow. ^{[1, Ch. B.1.3]} First steps: My child has been diagnosed with autism – what happens next?.

What else you should know

• Long waiting times: The guideline mentioned long waiting times for assessment appointments at specialised services and for therapy offers (as of 2016) and called for the earliest possible diagnosis. ^{[1, Ch. B.4.13.2]} What the situation is like locally today, you can only find out by asking the services.
• Not every suspicion is confirmed: For referrals to specialist clinics, studies found an autism spectrum diagnosis in 30 to 70 % of cases. ^{[1, Ch. B.1.2]} Even without an autism diagnosis, your child may need support.
• Not covered: specific facilities. You can find directories and services under the contact points: Contact points.

Sources and literature

1. DGKJP, DGPPN et al. Autismus-Spektrum-Störungen im Kindes-, Jugend- und Erwachsenenalter. Teil 1: Diagnostik. S3-Leitlinie, AWMF-Reg.-Nr. 028-018, Textstand 23.02.2016 (Kap. B.1, B.2.6.1, B.4.2, B.4.3, B.4.13; Empf. 7, 17, 18, 31–33). – Guideline (in German) (expired; according to the document note under revision)
2. DGKJP. Aktuelle Leitlinien (Eintrag 028-018: „Gültig bis 04.04.2021“). https://www.dgkjp.de/wissen/aktuelle-leitlinien/ – Professional society (website in German)
3. Höhne E, Kamp-Becker I. Diagnostik der Autismus-Spektrum-Störung. Pädiatrie 2024;(4+5):27–32. – Expert overview (in German)