Feasibility and Validity of Clinical Outcome Measures in a Prospective Natural History Study of STXBP1 -Related Disorders
Year: 2026
Type: preprint
Study design: Observational Study
Abstract: Aims To describe the developmental phenotype of individuals with STXBP1 -related disorders ( STXBP1 -RD) in a prospective natural history study using standardized outcome measures. Methods Data were collected from 155 individuals with a mean age of 8.2 years. The Bayley Scales of Infant and Toddler Development-Fourth Edition (Bayley-4), Hand Manipulation and Eye Hand Coordination subtests of the Peabody Developmental Motor Scales-Third Edition (PDMS-3), and Gross Motor Function Measure-66 (GMFM-66) were assessed. The Gross Motor Function Classification System (GMFCS), Mini-Manual Ability Classification System (MiniMACS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) were used to classify participants. Results Assessments were well tolerated with 0-6.9% incomplete assessments. Floor or ceiling effects were not common with raw scores, age equivalents, or growth scales values but were frequently observed with scaled scores. Significant differences were found between the Bayley-4, GMFM-66, and PDMS-3 when participants were divided into groups by corresponding developmental domain classification scale. Strong associations ( p <.05) were seen between all measures across Bayley-4 domains, PDMS-3 domains, and GMFM-66 total scores. Interpretation The Bayley-4, GMFM-66, and PDMS-3 are suitable for use in clinical practice and future clinical trials in STXBP1 -RD.
Source: medRxiv
Authors: Samuel R. Pierce, Julie M. Orlando, Sarah M. Ruggiero, Ian McSalley, Kristin Cunningham, JoeyLynn Coyne, Sarah Tefft, Jillian L. McKee, Ingo Helbig, Bintou Bane, Torrey Chisari, Anna Prentice, Rency Dhaduk, Carlyn Glatts, Charlene Woo, Maya G. Mosner, Stephanie A. Zbikowski, Zachary Grinspan, Juliet Knowles, Hsiao-Tuan Chao, Katherine Xiong, Elizabeth Berry-Kravis, Sepideh Tabarestani, Charlene Son Rigby, James Goss, Megan Abbott, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland
Language: English
Subfield: Rehabilitation
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7213464703