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

Imagining the ultimate systems neuroscience paper

A growing body of papers on systems neuroscience and on giant simulations of neural circuits involves data beyond the point that anyone can reasonably understand end to end. Looking ahead, “paper-bots” could solve that problem.

By Mark Humphries
2 December 2024 | 8 min read
Illustration of a pen hovering over a gene sequence-like series of colored rectangles.

This paper changed my life: ‘Histone demethylation mediated by the nuclear amine oxidase homolog LSD1,’ from the Shi Lab

This paper defined key rules of epigenomic regulation and shaped how I study chromatin plasticity as a mechanism for experience-dependent changes in the brain.

By Anne E. West
27 November 2024 | 5 min read

What’s next for brain-directed gene therapy after death in Neurogene trial

The incident highlights that viral vectors can trigger deadly immune responses even when delivered directly to the nervous system.

By Calli McMurray
26 November 2024 | 6 min read