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Chapter 2
22. Jacquemont S, Berry-Kravis E, Hagerman R, et al. The challenges of clinical trials in fragile X
syndrome. Psychopharmacology 2014; 231: 1237–1250.
23. Jansen-Van Der Weide MC, Gaasterland CMW, Roes KCB, et al. Rare disease registries:
potential applications towards impact on development of new drug treatments. Orphanet J
Rare Dis 2018; 13: 154.
24. Heussler H, Cohen J, Silove N, et al. A phase 1/2, open-label assessment of the safety,
tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric
fragile X syndrome. J Neurodev Disord 2019; 11: 16.
25. Elgersma Y and Sonzogni M. UBE3A reinstatement as a disease-modifying therapy for
Angelman syndrome. Dev Med Child Neurol 2021; 63: 802–807.
26. Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex
diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 2021;
123: 50–66.
27. Müller AR, Brands MM, van de Ven PM, et al. The power of 1: systematic review of N-of-1
studies in rare genetic neurodevelopmental disorders. Neurology 2021; 96: 529–540.
28. Hessl D, Sansone SM, Berry-Kravis E, et al. The NIH Toolbox Cognitive Battery for intellectual
disabilities: three preliminary studies and future directions. J Neurodev Disord 2016; 8: 35.
29. Berry-Kravis EM, Hessl D, Rathmell B, et al. Effects of STX209 (Arbaclofen) on neurobehavioral
function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial.
Sci Transl Med 2012; 4:152ra127.
30. Berry-Kravis E, Hagerman R, Visootsak J, et al. Arbaclofen in fragile X syndrome: results of
phase 3 trials. J Neurodev Disord 2017; 9: 3.
31. Erickson CA, Davenport MH, Schaefer TL, et al. Fragile X targeted pharmacotherapy: lessons
learned and future directions. J Neurodev Disord 2017; 9: 7.
32. Tricco AC, Lillie E, Zarin W, et al. PRISMA extension for scoping reviews (PRISMA-ScR):
checklist and explanation. Ann Intern Med 2018; 169: 467–473.
33. Moher D, Shamseer L, Clarke M, et al. Preferred reporting items for systematic review and
meta-analysis protocols (PRISMA-P) 2015 statement. Syst Rev 2015; 4(1): 1.
34. Poletti V and Biffi A. Gene-based approaches to inherited neurometabolic diseases. Hum Gene
Ther 2019; 30: 1222–1235.
35. Ouzzani M, Hammady H, Fedorowicz Z, et al. Rayyan-a web and mobile app for systematic
reviews. Syst Rev 2016; 5: 210.
36. Dodd S, Clarke M, Becker L, et al. A taxonomy has been developed for outcomes in medical
research to help improve knowledge discovery. J Clin Epidemiol 2018; 96: 84–92.
37. Terwee CB, Zuidgeest M, Vonkeman HE, et al. Common patient-reported outcomes across
ICHOM Standard Sets: the potential contribution of PROMIS®. BMC Med Inform Decis Mak
2021; 21: 259.
38. Budimirovic DB, Berry-Kravis E, Erickson CA, et al. Updated report on tools to measure
outcomes of clinical trials in fragile X syndrome. J Neurodevelop Disord 2017; 9: 14.
39. Esbensen AJ, Hooper SR, Fidler D, et al. Outcome measures for clinical trials in down
syndrome. Am J Intellect Dev Disabil 2017; 122: 247–281.
40. Endo-ERN. The ERICA Patient Reported Outcome Measures (PROMs) Repository, https://
endo-ern.eu/the-erica-patient-reported-outcomemeasures-proms-repository/ (accessed 3
June 2023).
41. Shields RH, Kaat AJ, McKenzie FJ, et al. Validation of the NIH Toolbox Cognitive Battery in
intellectual disability. Neurology 2020; 94: e1229–e1240.
42. Maguire S, Davison J, McLaughlin M, et al. Exploring the psychometric properties of self-
report instruments used to measure health-related quality of life and subjective wellbeing of
adolescents with intellectual disabilities: a Consensus-based Standards for the Selection of
Health Measurement Instruments (COSMIN) systematic review. J Appl Res Intellect Disabil.
2023; 36: 899–915. http://www.ncbi.nlm.nih.gov/ pubmed/37101341
43. Burks HB, Des Bordes JKA, Chadha R, et al. Quality of life assessment in older adults with
dementia: a systematic review. Dement Geriatr Cogn Disord 2021; 50: 103–110.
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