22q13

Recent articles

Image of organoids modeling CDKL5 deficiency disorder.

Organoids identify potential therapies, circuit flaws for autism-linked syndromes

Brain cell clusters serve as drug screens and reveal connectivity differences for autism-linked conditions, two new models show.

By Peter Hess
21 November 2022 | 3 min read

Autism-linked mutation disrupts brain circuit to change social behavior

Therapies that target the circuit could boost social activity, new findings suggest.

By Charles Q. Choi
24 June 2022 | 4 min read

DNA tags in placenta point to possible autism-linked gene

The gene, dubbed NHIP, is in a chromosomal region that shows unusually low levels of DNA methylation in placentas from women who gave birth to autistic children.

By Laura Dattaro
29 March 2022 | 5 min read
Portrait of Geraldine Bliss and her son Charles

New family group pursues treatments for autism-linked syndrome

After a decade of working with the Phelan-McDermid Syndrome Foundation, Geraldine Bliss has co-founded a new organization to develop therapies for the condition.

By Peter Hess
19 November 2019 | 4 min read

Mutations in autism gene may trigger milder effects than does its loss

People with mutations in SHANK3 have milder features than do those missing a chunk of DNA that includes the gene.

By Bahar Gholipour
20 June 2018 | 4 min read

Wi-Fi flap; obsessive-compulsive link; brain catalog and more

Two researchers balk at talk that Wi-Fi and autism are linked, changes in an autism risk gene are tied to obsessive-compulsive traits in three species, and scientists plan to conduct a census of all of the brain’s cell types.

By Emily Willingham
27 October 2017 | 5 min read

Family groups play key role in advancing autism research

Families need more support from researchers in order for their heroic efforts to be optimally effective.

By Stephan J. Sanders
27 June 2017 | 6 min read

Rare form of autism shows unique pattern of regression

More than 40 percent of children with Phelan-McDermid syndrome lose skills they once had, beginning, on average, at age 6.

By Carrie Arnold
24 May 2017 | 3 min read
Spectrum from The Transmitter.

New role for autism gene extends treatment possibilities

The autism-linked gene SHANK3 is known for its role at neuronal junctions, but it has another function that could serve as a drug target.

By Nicholette Zeliadt
11 April 2016 | 5 min read
Spectrum from The Transmitter.

Clinical research: Autism-related syndrome changes with age

Many characteristics of Phelan-McDermid syndrome — an autism-linked disorder arising from abnormalities at the tip of chromosome 22q13 — change as individuals age.

By Maris Fessenden
4 April 2014 | 2 min read

Explore more from The Transmitter

World map color-coded to visualize the impact of autism across the world, estimating the disability-adjusted life years by nation.

Functional connectivity; ASDQ screen; health burden of autism

Here is a roundup of autism-related news and research spotted around the web for the week of 6 January.

By Jill Adams
7 January 2025 | 2 min read
Multicolored illustration of a human brain as seen from the top down.

Most neurons in mouse cortex defy functional categories

The majority of cells in the cerebral cortex are unspecialized, according to an unpublished analysis—and scientists need to take care in naming neurons, the researchers warn.

By Holly Barker
7 January 2025 | 5 min read
Illustration of lines of text being distorted by red orbs.

This paper changed my life: ‘A massively parallel architecture for a self-organizing neural pattern recognition machine,’ by Carpenter and Grossberg

This paper taught me that we can use mathematical modeling to understand how neural networks are organized—and led me to a doctoral program in the department led by its authors.

By Luiz Pessoa
6 January 2025 | 3 min read