The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope

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Every Inch Counts: Updates on the Inchstone Project with Drs. Natasha Ludwig and Jenny Downs Jan 01, 1970

Show notes

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. The Inchstone Project is a cross-syndrome collaborative international effort to improve how we measure progress and quality of life for individuals with 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 new measures of awareness and a follow-up longitudinal study

PMS families made up nearly 20% of the study sample! This is such a powerful reminder that your participation is helping to change the research landscape.

Tune in to learn how every inchstone of progress matters—and how you’re helping move science forward.

Recorded: 7/22/2025

Initially Aired: 1/21/2025

Updates since the recording:

Dr. Ludwig is a confirmed speaker at our 2026 PMSF Family Conference in Aurora, CO!
Dr. Ludwig's paper on caregiver-reported quality of life in individuals with DEEs has been published! You can read the full text here: https://pmc.ncbi.nlm.nih.gov/articles/PMC12804316/