Diagnostic tests

Recent articles

Stock photograph of a women and her young child at a clinician’s office.

A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman

A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.

By Lauren Schenkman
15 August 2024 | 7 min read
Illustrated portrait of So Hyun “Sophy” Kim.

Diagnosing autism and teaching neurodiversity with So Hyun “Sophy” Kim

The Korea University professor on her path to autism research and studying in the United States.

By Brady Huggett
1 July 2024 | 67 min listen
Portrait of Matthew Siegel sitting on a staircase.

Pinning down ‘profound autism’ for reliable research: Q&A with Matthew Siegel

A clear and actionable definition for the term could enhance research and improve care, Matthew Siegel says.

By Katie Moisse
13 June 2024 | 7 min read
A slice of a cerebellum.

Mutation in top autism-linked gene may alter eye reflex

The discovery could help clinicians diagnose children who carry mutations in the gene, called SCN2A, and gauge their responses to potential therapies.

By Charles Q. Choi
26 February 2024 | 5 min read
An illustration of a magnifying glass, checklists, and anonymous figures.

‘Prototypical autism’ research is likely a dead end

Efforts to define “frank” or “classic” forms of the condition build on several assumptions that the science has not yet borne out.

By Deborah Fein, David Amaral, Einat Waizbard-Bartov
25 January 2024 | 8 min read
A child uses a tablet device

New tablet-based tools to spot autism draw excitement — and questions

Handheld devices promise to bring autism detection home, but many researchers urge caution.

By Charles Q. Choi
4 January 2024 | 8 min read
A person stands in front of a neatly organized dresser drawer.

Teasing apart insistence on sameness with Mirko Uljarević

The hallmark autism trait has multiple facets, Uljarević and his colleagues have found.

By Lauren Schenkman
30 October 2023 | 6 min read
A hand reaches from above to add a pill to a stack that is resting against the x-axis of a graph.

Looking at eye tracking’s potential for clinical trials

This month’s Going on Trial newsletter explores how eye tracking might be used beyond helping with diagnosis, among other drug development news.

By Calli McMurray
28 September 2023 | 6 min read
Research images from an eye-tracking study.

Tablet-based tool to spot autism validated in two studies

The new tool could help clinicians diagnose autism in children younger than 3, the findings show.

By Charles Q. Choi
5 September 2023 | 5 min read
Illustrated portrait of Amy Wetherby.

Amy Wetherby: Impatient for progress

A speech-language pathologist by training, Wetherby has spent more than four decades developing tools to help identify and treat autism early; now her work has taken on a more personal sense of urgency.

By Daisy Yuhas
26 July 2023 | 13 min read

Explore more from The Transmitter

Pixelated human brain scans showing the distribution of mitochondria.

Mitochondrial ‘landscape’ shifts across human brain

Evolutionarily newer regions sport mitochondria with a higher capacity for energy production than older regions, according to the first detailed map of the organelles in a tissue slice, adding to mounting evidence that the brain features a metabolic gradient.

By Claudia López Lloreda
25 April 2025 | 6 min read
A clinician holds a clipboard while someone else sits on a couch.

Expediting clinical trials for profound autism: Q&A with Matthew State

Aligning Research to Impact Autism, a new initiative funded by the Sergey Brin Family Foundation, wants to bring basic science discoveries to the clinic faster.

By Lauren Schenkman
24 April 2025 | 8 min read
Illustration of astrocytes in a petri dish.

This paper changed my life: Shane Liddelow on two papers that upended astrocyte research

A game-changing cell culture method developed in Ben Barres’ lab completely transformed the way we study astrocytes and helped me build a career studying their reactive substates.

By Shane Liddelow
23 April 2025 | 6 min read