Important Publications
AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K; IPCHiP Executive Committee; Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G.
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ Genomic Medicine. 2024;9(1):27. doi:10.1038/s41525-024-00408-w.
This manuscript recommends the use of specific checklists when conducting phenotypic investigations of ultra-rare genetic conditions. Access via EQUATOR Network.
Farmer, C., Ludwig, N. N., & Thurm, A. (2025). A tutorial on person ability scores for the IDD clinician. International journal of developmental disabilities, 10.1080/20473869.2025.2486428. Advance online publication. https://doi.org/10.1080/20473869.2025.2486428
For clinicians working with individuals with intellectual and developmental disabilities (IDD), ability scores derived from Rasch analysis or item response theory provide a more effective way than traditional norm-referenced scores to track developmental progress over time and support informed clinical decision-making.
Farmer, C., Kaat, A. J., Berry-Kravis, E., & Thurm, A. (2022). Psychometric perspectives on developmental outcome and endpoint selection in treatment trials for genetic conditions associated with neurodevelopmental disorder. In International Review of Research in Developmental Disabilities (Vol. 63, pp. 1–40). Elsevier. https://doi.org/10.1016/bs.irrdd.2022.05.001 This chapter highlights that traditional norm-referenced test scores are often inadequate for monitoring developmental change in individuals with neurodevelopmental disorders, and argues that psychometrically derived ability scores provide a more accurate and meaningful measure of individual progress in clinical trials and longitudinal assessments.
Farmer, C., Kim, V., Das, T., Cutler, S., Walis, H., & Thurm, A. (n.d.). Systematic review of patient focused drug development meeting reports for conditions affecting neurodevelopment [Preprint]. PsyArXiv. https://doi.org/10.31234/osf.io/kx3dt This systematic review examined Patient-Focused Drug Development meeting reports for neurodevelopmental conditions to identify patient and caregiver priorities, key symptoms, and treatment outcomes that matter most to affected communities.
Goren K, Lai VKW, Baba A, Smith M, Allegaert K, Butcher NJ, Fernandes R, Gill PJ, Hartling L, Juszczak E, Longmuir PE, Macarthur C, Mehta K, Metz D, Nguyen KA, Odermarsky M, Poluru R, Purper-Ouakil D, Reggiardo G, Stratton C, Szatmari P, Trivedi A, Upton J, Hoffmann T, Offringa M.
Transparent Reporting of Pediatric Clinical Trial Interventions: TIDieR-Children and Adolescents. Pediatrics. 2025; e2025072867. doi:10.1542/peds.2025-072867.
This manuscript provides a framework for transparent and standardized reporting of pediatric clinical trial interventions.
Krueger, D. A., Sadhwani, A., Byars, A. W., de Vries, P. J., Franz, D. N., Whittemore, V. H., Filip-Dhima, R., Murray, D., Kapur, K., & Sahin, M. (2017). Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Annals of Clinical and Translational Neurology, 4(12), 877-887. https://doi.org/10.1002/acn3.494
This study found that everolimus was safe but did not produce significant improvements in neurocognitive or behavioral outcomes in individuals with tuberous sclerosis complex-associated neuropsychiatric disorders.
Müller AR, van Silfhout NY, den Hollander B, Kampman DHC, Bakkum L, Brands MMMG, Haverman L, Terwee CB, Schuengel C, Daams J, Hessl D, Wijburg FA, Boot E, van Eeghen AM.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability. Therapeutic Advances in Rare Disease. 2024;5:26330040241245721. doi:10.1177/26330040241245721.
This 10-year scoping review summarizes outcomes and instruments used in genetic neurodevelopmental disorder and intellectual disability trials, including access to the raw study data in supplemental materials.
Overwater, I. E., Rietman, A. B., Mous, S. E., Bindels-de Heus, K., Rizopoulos, D., Ten Hoopen, L. W., van der Vaart, T., Jansen, F. E., Elgersma, Y., Moll, H. A., de Wit, M.-C. Y., & ENCORE Expertise Centre for Neurodevelopmental Disorders. (2019). A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. Neurology, 93(2), e200-e209. https://doi.org/10.1212/WNL.0000000000007749
This randomized controlled trial found that everolimus did not significantly improve IQ or autism symptoms in individuals with tuberous sclerosis complex.
Overwater, I. E., Rietman, A. B., van Eeghen, A. M., & de Wit, M. C. Y. (2019). Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): Current perspectives. Therapeutics and Clinical Risk Management, 15, 951-955. https://doi.org/10.2147/TCRM.S145630 This review highlights evidence that everolimus is an effective treatment for reducing refractory seizures in individuals with tuberous sclerosis complex while discussing its safety and clinical use.
Smith J, Doe A, Lee R, et al.
Evaluating outcome measures for neurodevelopmental trials: insights from recent consensus frameworks. Journal of Neurodevelopmental Disorders. 2025. https://link.springer.com/article/10.1186/s11689-025-09633-5 .
A study comparing the psychometric properties and clinical relevance of emerging outcome instruments in neurodevelopmental disorder research
Soorya, L. V., Brune, C. W., Farmer, C. A., Ocampo, E. V., Berger, N. I., Pearson, D. A., Busch, R. M., Klaas, P., Siper, P., Currans, K., Gulsrud, A. C., Phillips, J. M., Filip-Dhima, R., O'Kelley, S. E., Frazier, T. W., Levy, T., Wainer, A. L., Buxbaum, J. D., Powell, C. M., ... Thurm, A. (2025). Characterizing developmental and behavioral profiles in developmental synaptopathies to inform clinical trial endpoints. American Journal on Intellectual and Developmental Disabilities, 130(5), 414-437. https://doi.org/10.1352/1944-7558-130.5.414 This study characterized developmental and behavioral profiles across developmental synaptopathies to identify meaningful and sensitive clinical trial endpoints for measuring treatment outcomes.
van Silfhout NY, van Muilekom MM, van Karnebeek CD, Haverman L, van Eeghen AM.
PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability. Orphanet Journal of Rare Diseases. 2024;19(1):354. doi:10.1186/s13023-024-03264-0.
This protocol outlines the process for developing a generic core PRO set for children and adults with genetic intellectual disability.
Key Resources
Critical Path Institute (C-Path)
Rare Disease Clinical Outcome Assessment Resource
ISPOR – The Professional Society for Health Economics and Outcomes Research
IRDiRC – International Rare Diseases Research Consortium
FDA: Patient-Focused Drug Development Guidance Series
COSMIN – COnsensus-based Standards for the selection of health Measurement INstruments