Page 26 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 1
38. Van L, Heung T, Graffi J, et al. All-cause mortality and survival in adults with 22q11.2 deletion
syndrome. Genet Med. Oct 2019;21(10):2328-2335. doi:10.1038/s41436-019-0509-y
39. Global, regional, and national burden of neurological disorders, 1990-2016: a systematic
analysis for the Global Burden of Disease Study 2016. Lancet Neurol. May 2019;18(5):459-480.
doi:10.1016/s1474-4422(18)30499-x
40. Brakedal B, Toker L, Haugarvoll K, Tzoulis C. A nationwide study of the incidence, prevalence
and mortality of Parkinson’s disease in the Norwegian population. NPJ Parkinsons Dis. Mar 2
2022;8(1):19. doi:10.1038/s41531-022-00280-4
41. Zirra A, Rao SC, Bestwick J, et al. Gender Differences in the Prevalence of Parkinson’s Disease.
Mov Disord Clin Pract. Jan 2023;10(1):86-93. doi:10.1002/mdc3.13584
42. Poewe W, Seppi K, Tanner CM, et al. Parkinson disease. Nat Rev Dis Primers. Mar 23
2017;3:17013. doi:10.1038/nrdp.2017.13
43. Bloem BR, Okun MS, Klein C. Parkinson’s disease. Lancet. Jun 12 2021;397(10291):2284-2303.
doi:10.1016/s0140-6736(21)00218-x
44. Postuma RB, Berg D, Stern M, et al. MDS clinical diagnostic criteria for Parkinson’s disease.
Mov Disord. Oct 2015;30(12):1591-601. doi:10.1002/mds.26424
45. Puschmann A. Monogenic Parkinson’s disease and parkinsonism: clinical phenotypes
and frequencies of known mutations. Parkinsonism Relat Disord. Apr 2013;19(4):407-15.
doi:10.1016/j.parkreldis.2013.01.020
46. Butcher NJ, Kiehl TR, Hazrati LN, et al. Association between early-onset Parkinson disease
and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson
disease and its clinical implications. JAMA Neurol. Nov 2013;70(11):1359-66. doi:10.1001/
jamaneurol.2013.3646
47. Carfì A, Romano A, Zaccaria G, et al. The burden of chronic disease, multimorbidity, and
polypharmacy in adults with Down syndrome. Am J Med Genet A. Jul 2020;182(7):1735-1743.
doi:10.1002/ajmg.a.61636
48. McMahon M, Hatton C, Bowring DL. Polypharmacy and psychotropic polypharmacy in adults
with intellectual disability: a cross-sectional total population study. J Intellect Disabil Res. Sep 9
2020;doi:10.1111/jir.12775
49. Cooper S-A, McLean G, Guthrie B, et al. Multiple physical and mental health comorbidity in
adults with intellectual disabilities: population-based cross-sectional analysis. BMC Family
Practice. 2015/08/27 2015;16(1):110. doi:10.1186/s12875-015-0329-3
50. Bear M, Connors B, Paradiso MA. Neuroscience: Exploring the Brain, Enhanced Edition : Exploring
the Brain, Enhanced Edition. Jones & Bartlett Learning, LLC; 2020.
51. Parravano M, Petri D, Maurutto E, et al. Association Between Visual Impairment and Depression
in Patients Attending Eye Clinics: A Meta-analysis. JAMA Ophthalmol. Jul 1 2021;139(7):753-
761. doi:10.1001/jamaophthalmol.2021.1557
52. Blazer DG. Hearing Loss: The Silent Risk for Psychiatric Disorders in Late Life. Clin Geriatr Med.
May 2020;36(2):201-209. doi:10.1016/j.cger.2019.11.002
53. Carvill S. Sensory impairments, intellectual disability and psychiatry. J Intellect Disabil Res. Dec
2001;45(Pt 6):467-83. doi:10.1046/j.1365-2788.2001.00366.x
54. Nightengale E, Yoon P, Wolter-Warmerdam K, Daniels D, Hickey F. Understanding Hearing
and Hearing Loss in Children With Down Syndrome. Am J Audiol. Sep 18 2017;26(3):301-308.
doi:10.1044/2017_aja-17-0010
55. Zalzal HG, Lawlor CM. Down Syndrome for the Otolaryngologist: A Review. JAMA Otolaryngol
Head Neck Surg. Apr 1 2023;149(4):360-367. doi:10.1001/jamaoto.2023.0001
56. Satgunam P, Datta S, Sumalini R. Near vision in individuals with Down syndrome: a vision
screening study. Eye (Lond). Aug 2019;33(8):1254-1260. doi:10.1038/s41433-019-0402-6
57. Valente M. Pure-tone audiometry and masking. Plural Pub.; 2009.
58. Pensak ML, Choo DI. Clinical otology. Fourth edition. ed. Thieme; 2015.
59. Meuwese-Jongejeugd A, Vink M, van Zanten B, et al. Prevalence of hearing loss in 1598
adults with an intellectual disability: cross-sectional population based study. Int J Audiol. Nov
2006;45(11):660-9. doi:10.1080/14992020600920812
24