From QI-disability to QID-12: creating a brief proxy-report measure of quality of life for children with intellectual disability

World Health Organization. (1993). Measuring quality of life: the development of the World Health Organization Quality of Life Instrument (WHOQOL). Division of Mental Health, World Health Organisation.

Leonard, H., Downs, J., Benke, T. A., Swanson, L., Olson, H., & Demarest, S. (2022). CDKL5 deficiency disorder: clinical features, diagnosis, and management. The Lancet Neurology, 21(6), 563–576.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024). Developmental and epileptic encephalopathies. Nat Rev Dis Primers, 10(1), 61.

Article  PubMed  Google Scholar 

Santoro, S. L., Donelan, K., & Constantine, M. (2022). Proxy-report in individuals with intellectual disability: A scoping review. Journal Of Applied Research In Intellectual Disabilities, 35(5), 1088–1108.

Article  PubMed  PubMed Central  Google Scholar 

Downs, J., Jacoby, P., Leonard, H., Epstein, A., Murphy, N., Davis, E., Reddihough, D., Whitehouse, A., & Williams, K. (2019). Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure. Quality Of Life Research, 28(3), 783–794.

Article  PubMed  Google Scholar 

Downs, J., Jacoby, P., Saldaris, J., Leonard, H., Benke, T., Marsh, E., & Demarest, S. (2022). Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder. Journal Of Sleep Research, e13600.

Saldaris, J. M., Jacoby, P., Leonard, H., Benke, T. A., Demarest, S., Marsh, E. D., & Downs, J. (2023). Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials. Epilepsy & Behavior, 139, 109069.

Article  Google Scholar 

Tangarorang, J., Leonard, H., Epstein, A., & Downs, J. (2019). A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder. Am J Med Genet A, 179(2), 249–256.

Article  CAS  PubMed  Google Scholar 

Downs, J., Jacoby, P., Specchio, N., Cross, H., Amin, S., Bahi-Buisson, N., Rajaraman, R., Suter, B., Devinsky, O., Aimetti, A., Busse, G., Olson, H. E., Demarest, S., Benke, T. A., & Pestana-Knight, E. (2024). Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial. European Journal Of Paediatric Neurology : Ejpn : Official Journal Of The European Paediatric Neurology Society, 51, 140–146.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ziegler, A., Carroll, J., Bain, J. M., Sands, T. T., Fee, R. J., Uher, D., Kanner, C. H., Montes, J., Glass, S., Douville, J., Mignon, L., Gleeson, J. G., Crooke, S. T., & Chung, W. K. (2024). Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nature Medicine, 30(10), 2782–2786.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Koğar, H. (2020). Development of a Short Form: Methods, Examinations, and Recommendations. Journal of Measurement and Evaluation in Education and Psychology, 11(3), 302–310.

Google Scholar 

Leite, W. L., Huang, I. C., & Marcoulides, G. A. (2008). Item Selection for the Development of Short Forms of Scales Using an Ant Colony Optimization Algorithm. Multivariate Behav Res, 43(3), 411–431.

Article  PubMed  Google Scholar 

Crone, D. L., Rhee, J. J., & Laham, S. M. (2021). Developing brief versions of the Moral Foundations Vignettes using a genetic algorithm-based approach. Behavior Research Methods, 53(3), 1179–1187.

Article  PubMed  Google Scholar 

Passarelli, M., Casetta, L., Rizzi, L., Chiorri, C., Cassina, F., Voi, S., & Rocco, D. (2024). Short and sweet: Comparing strategies for the reduction of questionnaires on self-criticism and social safeness while preserving construct validity. International Journal Of Psychology : Journal International De Psychologie, 59(6), 1234–1244.

Article  PubMed  Google Scholar 

Schroeders, U., Wilhelm, O., & Olaru, G. (2016). Meta-Heuristics in Short Scale Construction: Ant Colony Optimization and Genetic Algorithm. PLoS One, 11(11), e0167110.

Eisenbarth, H., Lilienfeld, S. O., & Yarkoni, T. (2015). Using a genetic algorithm to abbreviate the Psychopathic Personality Inventory-Revised (PPI-R). Psychological Assessment, 27(1), 194–202.

Article  PubMed  Google Scholar 

McCray, G., Hope, H. F., Glasscoe, C., Hill, J., Quittner, A., Southern, K. W., & Lancaster, G. A. (2025). Development and validation of a short form psychometric tool assessing the caregiving Challenge of Living with Cystic Fibrosis (CLCF-SF) in a child. Psychology & Health, 40(3), 410–432.

Article  Google Scholar 

Epstein, A., Williams, K., Reddihough, D., Murphy, N., Leonard, H., Whitehouse, A., Jacoby, P., & Downs, J. (2019). Content validation of the Quality of Life Inventory-Disability. Child: Care, Health And Development, 45(5), 654–659.

Article  PubMed  Google Scholar 

Jacoby, P., Epstein, A., Kim, R., Murphy, N., Leonard, H., Williams, K., Reddihough, D., Whitehouse, A., & Downs, J. (2020). Reliability of the Quality of Life Inventory-Disability (QI-Disability) measure in children with intellectual disability. Journal of Developmental and Behavioral Pediatrics, 41(7), 534–539.

Article  PubMed  Google Scholar 

Leonard, H., Cobb, S., & Downs, J. (2017). Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol, 13(1), 37–51.

Article  CAS  PubMed  Google Scholar 

Williams, K., Jacoby, P., Whitehouse, A., Kim, R., Epstein, A., Murphy, N., Reid, S., Leonard, H., Reddihough, D., & Downs, J. (2021). Functioning, participation and quality of life in children with intellectual disability: An observational study. Developmental Medicine and Child Neurology, 63, 89–96.

Article  PubMed  Google Scholar 

Leonard, H., Junaid, M., Wong, K., Demarest, S., & Downs, J. (2021). Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. Epilepsy Research, 169, 106521.

Article  PubMed  Google Scholar 

Downs, J., Norman, R., Mulhern, B., Jacoby, P., Reddihough, D., Choong, C. S., Finlay-Jones, A., & Blackmore, A. M. (2024). Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability. Value In Health : The Journal Of The International Society For Pharmacoeconomics And Outcomes Research, 27(6), 776–783.

Article  PubMed  Google Scholar 

Simons Vip Consortium. (2012). Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron, 73(6), 1063–1067.

Article  Google Scholar 

Ludwig, N. N., Licari, M. K., Wojnaroski, M., Conecker, G., Hecker, J., Hommer, R., Muzyczka, K., Jacoby, P., & Downs, J. (2026). Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies. Quality Of Life Research, 35(2), 45.

Article  PubMed  PubMed Central  Google Scholar 

Sahdra, B. K., Ciarrochi, J., Parker, P., & Scrucca, L. (2016). Using genetic algorithms in a large nationally representative american sample to abbreviate the Multidimensional Experiential Avoidance Questionnaire. Frontiers in Psychology, 7, 189.

Article  PubMed  PubMed Central  Google Scholar 

Adams, R. C., Wu, M., & Wilson, M. (2012). The Rasch rating model and the disordered threshold controversy. Educational and Psychological Measurement, 72(4), 547–573.

Article  Google Scholar 

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