Every Inch Counts: Updates on the Inchstone Project with Drs. Natasha Ludwig and Jenny Downs

In this episode, we welcome Dr. Natasha Ludwig (Kennedy Krieger Institute / Johns Hopkins) and Dr. Jenny Downs (Kids Research Institute, Australia) for an exciting update on the Inchstone Project—a collaborative international effort to improve how we measure progress and quality of life for individuals with developmental and epileptic encephalopathies (DEEs), including Phelan-McDermid Syndrome (PMS).

We discuss:

• What the Inchstone Project is and why it matters

• How families helped shape new research by contributing to the DEE Parent Speak Survey

• Key findings on quality of life, including the importance of communication, cognitive skills, and touchscreen use

• What “clinical meaningfulness” really means—and why small changes can have a big impact

• How this research is informing clinical trial readiness and future interventions

• What’s next for the Inchstone team, including a follow-up longitudinal study

PMS families made up nearly 20% of the study sample! Thank you for helping move science forward.

Recorded: July 22, 2025

Aired: January 21, 2026

Updates since being recorded

• Dr. Ludwig is a confirmed speaker at the 2026 PMSF Family Conference!
• The paper on quality of life is published! Check it out here: https://link.springer.com/article/10.1007/s11136-025-04153-0