acePathogenic Genetic Variants, Comorbid Autism and Adaptive Developmental Quotient as Independent Predictors of Intellectual Disability in Children With Global Developmental Delay: An Interpretable Machine Learning Model With Calibrated Risk Estimation
Background Global developmental delay (GDD) frequently precedes intellectual disability (ID), but no validated multivariable prognostic tool exists to support individualised counselling during the initial diagnostic work-up. Existing risk indicators are typically considered in isolation, and their joint contribution within an interpretable predictive framework remains uncertain. Methods We retrospectively analysed 2453 children diagnosed with GDD between January 2014 and December 2023 at a provincial tertiary ch…
Among 2453 tertiary-referred children with GDD, a Platt-calibrated L2 logistic regression integrating routine clinical, neurophysiological and genetic data stratified progression to ID with AUC 0.783 and near-ideal calibration, enabling high-PPV triage.
In the same tertiary GDD cohort, the Youden-optimal model missed 33.9% of children who progressed to ID and had NPV 31.7%, limiting safe rule-out and indicating poor transportability beyond high-prevalence referral settings.
Single-centre retrospective design with high ID prevalence reflecting tertiary referral; model not validated for community populations and requires refitting and external validation before broader use.
Evidence
- Peer-reviewedJournal of Intellectual Disability Research2026-08-24
How should this claim be treated?
Truvace Impact Record TRV-2026-0878, v1: “Pathogenic Genetic Variants, Comorbid Autism and Adaptive Developmental Quotient as Independent Predictors of Intellectual Disability in Children With Global Developmental Delay: An Interpretable Machine Learning Model With Calibrated Risk Estimation.” Truvace, 2026-08-25. /record/TRV-2026-0878 (accessed at citation time). sha256 63dd7c6c34044e4e…
Calibration history
Every change to this record since certification, in the open. None yet — the reading has held since it entered the record.
Certified into the record
How to verify without trusting this page
Fetch the canonical text of any version from /api/record/TRV-2026-0878 and hash it yourself — for example shasum -a 256 on the saved canonical field. The result must equal content_hash, and each version’s text ends with prev:followed by the prior version’s hash (version 1 chains to 64 zeros). If a single character of any version had been altered since certification, the chain would not reproduce.