Introduction to the Special Issue on Phenotypic Explorations of Phelan McDermid Syndrome and Other Developmental Synaptopathies.
An editorial flags new, syndrome-tuned measures for Phelan-McDermid syndrome—wait for the data in the same issue.
01Research in Context
What this study did
J (2025) wrote a short editorial. It opens a special journal issue on Phelan-McDermid syndrome.
The piece lists upcoming papers that test new ways to measure skills in people with this rare genetic loss.
No new data appear; the paper only maps what is coming.
What they found
The editorial found a gap. Few tools exist that catch the unique profile of Phelan-McDermid syndrome.
Upcoming studies in the issue will try new eye-tracking, language, and social tasks made for this group.
How this fits with other research
Esbensen (2017) used the same editorial plan for Down syndrome. Both issues push finer rulers for single-gene delays.
Bellon-Harn et al. (2020) widened the call to all intellectual disabilities. The 2025 paper narrows it to Phelan-McDermid, keeping the same goal: better, fairer tests.
DiStefano et al. (2020) warn that standard scores floor-out in severe ID. The new issue answers with adapted tasks that can track small gains.
Why it matters
You may soon see clients with Phelan-McDermid syndrome. The upcoming papers will give you fresh probes for eye contact, word growth, and social steps. Watch the issue, borrow the tools, and add them to your assessment kit.
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02At a glance
03Original abstract
Dear Readers,I am providing a very short editorial welcome and introduction to our full special issue on Synaptopathies. Although the term may not be in the everyday vernacular for many, the issues addressed in the following collection of articles are common for almost all of us as a research community: issues of definition and access to research protocols, measurement and assessment, and integrative analyses toward a more complete understanding of genes and behavior for the syndromes associated with intellectual and developmental disability (IDD). The papers were part of a symposium held through the Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities in Kansas City in the Spring of 2024. And, with gratitude, I acknowledge Dr. Audrey Thurm for her leadership in pulling the symposium and special issue articles together and Dr. Alycia Halladay for kindly providing a full and proper guest introduction to the special issue.And, I also want to acknowledge a mistake made in which I missed providing a short editorial set up for our recurring feature highlighting the Gatlinburg Conference and their invited plenary speakers; I apologize. In AJIDD, Volume 130, Number 3, 167–248, May 2025, we had our special section from the Spring 2024 Gatlinburg Conference with articles by Ami Kim as well as Maya Sabatello and Katherine E. McDonald. If you are reading this apology and missed the plenary special section, please find your way back to that volume/number to pages 167–170 for Professor Kim’s excellent summary and to pages 171–177 for Professor Sabatello and McDonald’s also excellent summary.To remind readers, this annual special section represents an ongoing AJIDD initiative in which we feature short scientific perspectives based on invited plenary talks at national conferences with high relevance for IDD research. This Plenary Perspectives Special Section reflects the theme of the 2024 Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities, held in Kansas City, KS, on Early Life Identification of Intellectual and Developmental Disabilities. Two invited plenary papers address process issues as much as substantive issues with respect to knowledge transfer, including moving from basic discoveries to impact as well as building representative teams to ensure impact in the first place. Each speaker was asked to summarize their talk around background issues, contemporary advances, and future outlook. The Gatlinburg Conference, established in the late 1960s and supported, in part, by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), has a long and rich tradition in psychological theory, as well as psychosocial, behavioral, and bio-behavioral research in IDD with an important commitment to supporting pre- and postdoctoral trainees as the next generation of leaders in the IDD field.
American journal on intellectual and developmental disabilities, 2025 · doi:10.1352/1944-7558-130.5.341