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

Research image of EEG scans showing dopamine levels in human brains.

Null and Noteworthy: Learning theory validated 20 years later

The first published paper from the EEGManyLabs replication project nullifies a null result that had complicated a famous reinforcement learning theory.

By Laura Dattaro
30 May 2025 | 4 min read
Gerry Fischbach.

Neuroscientist Gerry Fischbach, in his own words

In 2023, I had the privilege of sitting down with Gerry over the course of several days and listening as he told the story of his life and career—including stints as dean or director of such leading institutions as Columbia University and NINDS—so that we could record it for posterity.

By Ivan Oransky
30 May 2025 | 2 min read
Amina Abubakar, dressed in yellow, stands outside and looks into the camera lens.

Amina Abubakar translates autism research and care for Kenya

First an educator and now an internationally recognized researcher, the Kenyan psychologist is changing autism science and services in sub-Saharan Africa.

By Ruth Kadide Keah
29 May 2025 | 7 min read