Page 51 - Let them speak Towards a patient reported outcome measure set for

Outcomes and instruments
References
1. American Psychiatric Association. American Psychiatric Association: diagnostic and Statistical
Manual of Mental Disorders Fifth Edition. Arlington, 2013.
2. Leonard H and Wen X. The epidemiology of mental retardation: challenges and opportunities
in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117–134.
3. Pinchefsky E and Shevell M. Intellectual disabilities and global developmental delay. In:
Goldstein S and DeVries M (eds) Handbook of DSM-5 Disorders in Children and Adolescents,
Springer Nature: Springer International Publishing, 2017, pp. 19–55.
4. Kvarnung M and Nordgren A. Intellectual disability & rare disorders: a diagnostic challenge.
Advances in Experimental Medicine and Biology, 2017; 1031: 39–54.
5. Wang J, Wang Y, Wang L, et al. The diagnostic yield of intellectual disability: combined whole
genome low-coverage sequencing and medical exome sequencing. BMC Med Genomics
2020; 13: 70.
6. Pekeles H, Accogli A, Boudrahem-Addour N, et al. Diagnostic yield of intellectual disability gene
panels. Pediatr Neurol 2019; 92: 32–36.
7. Castrén E, Elgersma Y, Maffei L, et al. Treatment of neurodevelopmental disorders in adulthood.
J Neurosci 2012; 32:14074–14079.
8. Levy G and Barak B. Postnatal therapeutic approaches in genetic neurodevelopmental
disorders. Neural Regen Res. 2021; 16: 414–422.
9. Ferrari M. Borderline intellectual functioning and the intellectual disability construct. Intellect
Dev Disabil 2009; 47: 386–389.
10. Swillen A and McDonald-Mcginn D. Developmental trajectories in 22q11.2 deletion syndrome.
Am J Med Genet Part C Semin Med Genet 2015; 169: 172–181.
11. Green Snyder LA, D’Angelo D, Chen Q, et al. Autism spectrum disorder, developmental and
psychiatric features in 16p11.2 duplication. J Autism Dev Disord 2016; 46: 2734–2748.
12. Valderas JM and Alonso J. Patient reported outcome measures: a model-based classification
system for research and clinical practice. Qual Life Res 2008; 17:1125–1135.
13. 14. Wilson IB. Linking clinical variables with health-related quality of life. JAMA 1995; 273; 59–65.
Cannizzo S, Lorenzoni V, Palla I, et al. Rare diseases under different levels of economic analysis:
current activities, challenges and perspectives. RMD Open 2018; 4: e000794.
15. FDA Clinical Outcome Assessments, https:// www.fda.gov/about-fda/cdrh-patient-
scienceand-engagement-program/clinical-outcomeassessments-coas-medical-device-
decision-making (accessed 11 July 2023).
16. Gnanasakthy A, Qin S and Norcross L. FDA Guidance on selecting, developing, or modifying
fit-for-purpose clinical outcome assessments: old wine in a new bottle? Patient 2023; 16: 3–5.
17. Walton MK, Powers JH, Hobart J, et al. Clinical outcome assessments: conceptual foundation-
report of the ISPOR clinical outcomes assessment-emerging good practices for outcomes
research task force. Value Heal 2015; 18: 741– 752.
18. U.S. Department of Health and Human Services FDA Center for Drug Evaluation and Research;
U.S. Department of Health and Human Services FDA Center for Biologics Evaluation and
Research; U.S. Department of Health and Human Services FDA Center for Devices and
Radiological Health. Guidance for industry: patient-reported outcome measures: use in
medical product development to support labeling claims: draft guidance. Health Qual Life
Outcomes. 2006; 4: 79.
19. Churruca K, Pomare C, Ellis LA, et al. Patient-reported outcome measures (PROMs): a review
of generic and condition-specific measures and a discussion of trends and issues. Health
Expect 2021; 24: 1015–1024.
20. Overwater IE, Rietman AB, van Eeghen AM, et al. Everolimus for the treatment of refractory
seizures associated with tuberous sclerosis complex (TSC): current perspectives. Ther Clin
Risk Manag 2019; 15: 951–955.
21. Van Eeghen AM, Bruining H, Wolf NI, et al. Personalized medicine for rare neurogenetic
disorders: can we make it happen? Cold Spring Harb Mol Case Stud 2022; 8: a006200.
2
49