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Chapter 4
References
1. American Psychiatric Association D, Association AP. Diagnostic and statistical manual of
mental disorders: DSM-5: American psychiatric association Washington, DC; 2013.
2. Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual
disability: a meta-analysis of population-based studies. Research in developmental disabilities.
2011;32(2):419-36.
3. Wang J, Wang Y, Wang L, Chen WY, Sheng M. The diagnostic yield of intellectual disability:
combined whole genome low-coverage sequencing and medical exome sequencing. BMC
medical genomics. 2020;13:1-15.
4. Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer AP, Jorge P. Intellectual disability genomics:
current state, pitfalls and future challenges. BMC genomics. 2021;22(1):1-17.
5. Goldmuntz E, editor 22q11. 2 deletion syndrome and congenital heart disease. American
Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2020: Wiley Online Library.
6. Robertson J, Hatton C, Emerson E, Baines S. Prevalence of epilepsy among people with
intellectual disabilities: a systematic review. Seizure. 2015;29:46-62.
7. Lubbers K, Stijl EM, Dierckx B, Hagenaar DA, Ten Hoopen LW, Legerstee JS, et al. Autism
symptoms in children and young adults with fragile x syndrome, angelman syndrome,
tuberous sclerosis complex, and neurofibromatosis type 1: a cross-syndrome comparison.
Frontiers in Psychiatry. 2022;13:852208.
8. Borland R, Hu N, Tonge B, Einfeld S, Gray K. Participation in sport and physical activity in adults
with intellectual disabilities. Journal of Intellectual Disability Research. 2020;64(12):908-22.
9. Edwards G, Jones C, Pearson E, Royston R, Oliver C, Tarver J, et al. Prevalence of anxiety
symptomatology and diagnosis in syndromic intellectual disability: A systematic review and
meta-analysis. Neuroscience & Biobehavioral Reviews. 2022;138:104719.
10. DaWalt LS, Usher LV, Greenberg JS, Mailick MR. Friendships and social participation as
markers of quality of life of adolescents and adults with fragile X syndrome and autism.
Autism. 2019;23(2):383-93.
11. Health USDo, Human Services FDACfDE, Research, Health USDo, Human Services FDACfBE,
Research, et al. Guidance for industry: patient-reported outcome measures: use in medical
product development to support labeling claims: draft guidance. Health and Quality of Life
Outcomes. 2006;4(1):79.
12. Rivera SC, Kyte DG, Aiyegbusi OL, Slade AL, McMullan C, Calvert MJ. The impact of patient-
reported outcome (PRO) data from clinical trials: a systematic review and critical analysis.
Health and quality of life outcomes. 2019;17:1-19.
13. van Eeghen AM, Bruining H, Wolf NI, Bergen AA, Houtkooper RH, van Haelst MM, van Karnebeek
CD. Personalized medicine for rare neurogenetic disorders: can we make it happen? Molecular
Case Studies. 2022;8(2):a006200.
14. Administration USFaD. FDA Patient-Focused Drug Development Guidance Series for
Enhancing the Incorporation of the Patient’s Voice in Medical Product Development and
Regulatory Decision Making. https://www.fda.gov/drugs/development-approval-process-
drugs/fda-patient-focused-drug-development-guidance-series-enhancing-incorporation-
patients-voice-medical2024.
15. Agency EM. Patient experience data in medicines development and regulatory decision-making.
https://www.ema.europa.eu/en/events/multi-stakeholder-workshop-patient-experience-data-
medicines-development-regulatory-decision-making#documents-section2022.
16. Compendium P. Guide To Patient Involvement In Rare Disease Therapy Development. https://
everylifefoundation.org/wp-content/uploads/2022/01/Guide-to-Patient-Involvement-FINAL-
COMPLETE-GUIDE-Rev.pdf2022.
17. Gibbons C, Porter I, Goncalves-Bradley DC, Stoilov S, Ricci-Cabello I, Tsangaris E, et al. Routine
provision of feedback from patient-reported outcome measurements to healthcare providers
and patients in clinical practice. Cochrane Database Syst Rev. 2021;10:CD011589.
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