Page 218 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
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Chapter 8
References
1. Janicki MP, Henderson CM, Rubin IL. Neurodevelopmental conditions and aging: Report
on the Atlanta Study Group Charrette on Neurodevelopmental Conditions and Aging*
.
Disability and Health Journal. 2008/04/01/ 2008;1(2):116-124. doi:https://doi.org/10.1016/j.
dhjo.2008.02.004
2. Pringsheim T, Jette N, Frolkis A, Steeves TD. The prevalence of Parkinson’s disease: a
systematic review and meta-analysis. Mov Disord. Nov 2014;29(13):1583-90. doi:10.1002/
mds.25945
3. Hashemi H, Fotouhi A, Yekta A, Pakzad R, Ostadimoghaddam H, Khabazkhoob M. Global and
regional estimates of prevalence of refractive errors: Systematic review and meta-analysis. J
Curr Ophthalmol. Mar 2018;30(1):3-22. doi:10.1016/j.joco.2017.08.009
4. Hearing loss prevalence and years lived with disability, 1990-2019: findings from the Global
Burden of Disease Study 2019. Lancet. Mar 13 2021;397(10278):996-1009. doi:10.1016/
s0140-6736(21)00516-x
5. Koenen KC, Ratanatharathorn A, Ng L, et al. Posttraumatic stress disorder in the World Mental
Health Surveys. Psychol Med. Oct 2017;47(13):2260-2274. doi:10.1017/s0033291717000708
6. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 Deletion
Syndrome. Am J Med Genet A. Nov 1 2005;138(4):307-13. doi:10.1002/ajmg.a.30984
7. Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Molecular
genetics of 22q11.2 deletion syndrome. Am J Med Genet A. Oct 2018;176(10):2070-2081.
doi:10.1002/ajmg.a.40504
8. Picciotti PM, Carfì A, Anzivino R, et al. Audiologic Assessment in Adults With Down Syndrome.
Am J Intellect Dev Disabil. Jul 2017;122(4):333-341. doi:10.1352/1944-7558-122.4.333
9. Akinci A, Oner O, Bozkurt OH, Guven A, Degerliyurt A, Munir K. Refractive errors and ocular
findings in children with intellectual disability: a controlled study. J aapos. Oct 2008;12(5):477-
81. doi:10.1016/j.jaapos.2008.04.009
10. Mevissen L, de Jongh A. PTSD and its treatment in people with intellectual disabilities: a review
of the literature. Clin Psychol Rev. Apr 2010;30(3):308-16. doi:10.1016/j.cpr.2009.12.005
11. van Splunder J, Stilma JS, Bernsen RM, Arentz TG, Evenhuis HM. Refractive errors and visual
impairment in 900 adults with intellectual disabilities in the Netherlands. Acta Ophthalmol
Scand. Apr 2003;81(2):123-9. doi:10.1034/j.1600-0420.2003.00035.x
12. Liao P, Vajdic C, Trollor J, Reppermund S. Prevalence and incidence of physical health conditions
in people with intellectual disability - a systematic review. PLoS One. 2021;16(8):e0256294.
doi:10.1371/journal.pone.0256294
13. 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
14. Boot E, Butcher NJ, Udow S, et al. Typical features of Parkinson disease and diagnostic
challenges with microdeletion 22q11.2. Neurology. Jun 5 2018;90(23):e2059-e2067.
doi:10.1212/wnl.0000000000005660
15. 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
16. Huang Q, Tang J. Age-related hearing loss or presbycusis. Eur Arch Otorhinolaryngol. Aug
2010;267(8):1179-91. doi:10.1007/s00405-010-1270-7
17. Cancelliere S, Heung T, Fischbach S, Klaiman P, Bassett AS. Adult-onset obstructive sleep apnea
and pediatric pharyngoplasty in 22q11.2 deletion syndrome. Sleep Med. Apr 2023;104:49-55.
doi:10.1016/j.sleep.2023.02.010
18. Willaert A, Van Eynde C, Verhaert N, et al. Vestibular dysfunction is a manifestation of 22q11.2
deletion syndrome. Am J Med Genet A. Mar 2019;179(3):448-454. doi:10.1002/ajmg.a.7
19. Vergaelen E, Claes S, Kempke S, Swillen A. High prevalence of fatigue in adults with a 22q11.2
deletion syndrome. Am J Med Genet A. Apr 2017;173(4):858-867. doi:10.1002/ajmg.a.38094
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