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Authors
Licari, Melissa K. https://orcid.org/0000-0003-3705-5323
Whitehouse, Andrew J.O. https://orcid.org/0000-0001-8722-1575
Ludwig, Natasha N. https://orcid.org/0000-0002-8934-7267
Wojnaroski, Mary https://orcid.org/0009-0006-5595-0419
Hommer, Rebecca https://orcid.org/0009-0005-4800-6182
Conecker, Gabrielle https://orcid.org/0000-0003-3274-0292
Hecker, JayEtta https://orcid.org/0009-0001-2704-5044
Muzyczka, Kelly https://orcid.org/0000-0001-5307-0692
Leonard, Helen https://orcid.org/0000-0001-6405-5834
Williams, Katrina J. https://orcid.org/0000-0002-1686-4458
Reddihough, Dinah S. https://orcid.org/0000-0003-3634-7906
Downs, Jenny https://orcid.org/0000-0001-7358-9037
Jacoby, Peter https://orcid.org/0000-0001-5092-7697
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Funding
Funding for this research was provided by:
University of Western Australia
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Article History
Received: 15 December 2025
Accepted: 5 March 2026
First Online: 1 April 2026
Declarations
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: MKL: Consultancy for Neurogene. Any renumeration has been made to her department. JD: Consultancy for Marinus, Ultragenyx, Acadia, Avexis, Orion, Takeda, Neurogene and Taysha; Clinical Trials with Anavex and Newron; Consulting/Advisory Board member for SCN2A Australia. Any remuneration has been made to her department. NNL: Consultant honoraria from Taysha Gene Therapies and Stoke Therapeutics. MW: Consultancy for Biotechnology Value Fund. The remaining authors have no relevant financial or non-financial interests to disclose.
: This validation study for the Quality of Life Inventory – Disability including analyses of Simons Searchlight data was approved by the Human Ethics Research Committee of the University of Western Australia (2019/RA/4/20/4276). The CDKL5 data collection was approved by the Human Research Committee of the University of Western Australia (2020/ET000271). The collection of additional data as part of the EuroQOL funded study was approved by the Human Research Committee of the University of Western Australia (2022/ET000126). The Inchstone study protocol was reviewed and determined to be exempt by the North Star Ethics Review Board (protocol # NB300112), with acknowledgement from the institution review boards of the Johns Hopkins School of Medicine and Nationwide Children’s Hospital. Additionally, the study received approval from the Human Research Ethics Committee at The University of Western Australia (2019/RA/4/20/6198).
: Informed written consent was obtained from the parents included in the study.
