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BTProf. Dr. Burak TatlıÇocuk Nörolojisi ve Gelişim
Chapter 15 · Diagnosis

The Heart of Diagnosis: History and Observation

Many families think an ASD diagnosis is made with a single test, a blood test, or imaging. In reality, we have no biological test today that proves ASD on its own; the diagnosis is a clinical decision that an experienced clinician makes by bringing together a detailed developmental history and direct behavioral observation. In this chapter, we'll look in detail at how this process works.

Developmental History: Why Is It So Important?

The first and most important step in the assessment is taking a detailed developmental history. An experienced clinician asks not only "what's happening now" but about the child's entire developmental path from birth to the present: pregnancy and birth history, motor milestones (sitting, walking), language milestones (babbling, first words, sentences), social development (social smiling, turning to look when called, joint attention), play development (functional and pretend play), and any history of regression.

Family history is also an inseparable part of this process: the presence of ASD, language delay, learning difficulties, ADHD, or other neurodevelopmental conditions in the family both provides supportive information for the diagnosis and raises the possible need for a genetic evaluation (see Chapter 19).

Tip / Practical Suggestion

Before the assessment, if possible, bring home videos from your child's infancy and early childhood, their health record, and any earlier developmental screening results. These documents let the clinician see the developmental path much more clearly and help you make good use of the assessment time.

Direct Behavioral Observation

Alongside the history, the clinician observes the child directly: their spontaneous play, their interaction with parents and with the clinician, their response to being called by name, their attempts to establish joint attention, their use of language, and the presence of repetitive behaviors or interests are all assessed. This observation can be done both in an unstructured way (during free play) and in a structured way (through specific tasks and social invitations, for example during the ADOS-2; see Chapter 17).

Gathering Information from Different Sources

A reliable assessment should not rest on observation in a single setting. An experienced team brings together parent reports, teacher or daycare observations where possible, and evaluations from occupational and speech therapists. This multi-source approach helps balance the fact that some children may be on their "best behavior" in a new or clinical setting (or, conversely, may struggle more than usual because the setting is unfamiliar).

Did You Know?

There is no blood test, imaging, or EEG finding that on its own is enough to diagnose ASD.

The diagnosis is made by combining the developmental history with direct behavioral observation.

Gathering information from more than one setting (home, school, clinic) increases the reliability of the diagnosis.

Standard scales (see Chapters 16-17) structure and strengthen this clinical evaluation, but do not replace it.

How Long Does the Assessment Take?

A comprehensive ASD assessment is not a quick procedure completed in a single appointment; it usually requires more than one session and includes taking a history, direct observation, administering standard scales, evaluating additional tests, and synthesizing all the findings. This process can sometimes take weeks; it may test a family's patience, but it's necessary for an accurate and reliable diagnosis.

When to Seek Advice

Avoid quick judgments like "definitely not autism" or "definitely autism" based on a single short interview or just one scale score. A reliable diagnosis is the product of a comprehensive, multi-dimensional assessment process.

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