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22q11.2 deletie syndroom
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Literatuur

Literatuur

  1. Antshel KM, Fremont W, Kates WR. The neurocognitive pheno­type in velo-cardio-facial syndrome: a developmental perspec­tive. Dev Disabil Res Rev 2008;14:43-51.
  2. Bassett AS, McDonald-McGinn DM. VG-netwerken. Netwerk VCFS 22q11.2 deletiesyndroom. Richtlijnen voor de begeleiding van kinderen en volwassenen met 22q11.2 deletiesyndroom. Een vertaling van: Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9 e1.
  3. Boot, E., Butcher, N. J., van Amelsvoort, T. A., Lang, A. E., Marras, C., Pondal, M., Bassett, A. S. (2015). Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome. Am J Med Genet A, 167A(3), 639-645.
  4. Butcher, N., Chow, E., Costain, G., Karas, D., Ho, A., & Bassett, A. (2012). Functional outcomes of adults with 22q11.2 deletion syndrome. Genet Med, 14(10), 836-843.
  5. Casteels, I., Casaer, P., Gewillig, M., Swillen, A., & Devriendt, K. (2008). Ocular findings in children with a microdeletion in chromosome 22q11.2. Eur J Pediatr, 167(7), 751-755.
  6. Chan, C., Costain, G., Ogura, L., Silversides, C. K., Chow, E. W., & Bassett, A. S. (2015). Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome. J Genet Couns, 24(5), 810-821.
  7. Chow EWC, Watson M, Young DA, Bassett AS. Neurocognitive profile in 22q11 deletionsyndrome and schizophrenia. SchizophrRes 2006;87:270-8.
  8. Duijff, S. N., Klaassen, P. W., de Veye, H. F., Beemer, F. A., Sinnema, G., & Vorstman, J. A. (2012). Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry, 200(6), 462-468.
  9. Duijff, S. N., Klaassen, P. W., Swanenburg de Veye, H. F., Beemer, F. A., Sinnema, G., & Vorstman, J. A. (2013). Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study. Res Dev Disabil, 34(9), 2937-2945.
  10. Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999;64(4):1076-86.
  11. Evers, L. J., van Amelsvoort, T. A., Candel, M. J., Boer, H., Engelen, J. J., & Curfs, L. M. (2014). Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability. J Intellect Disabil Res, 58(10), 915-925.
  12. Fung WLA, McEvilly R, Fong J, Silversides C, Chow E, Bassett AS. Elevated prevalence of generalized anxiety disor­der in adults with 22q11.2 deletion syndrome. Am J Psychiatry 2010;167:998.
  13. Green T, Gothelf D, Glaser B, Debbane M, Frisch A, Kotler M, et al. Psychiatric disorders and intellectual functioning throu­ghout development in velocardiofacial (22q11.2 deletion) syn­drome. J Am Acad Child Adolesc Psychiatry 2009;48:1060-8.
  14. Greenhalgh KL, Aligiania IA, Bromilow G, Cox H, Stait Y, Leech BJ, et al.22q11 deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child 2003;88:523-4.
  15. Habel A, McGinn M-J, Zackai EH, UnanueN, McDonald-McGinn DM. 2012. Syndromespecific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet Part A.
  16. Ingrao T, Lambert L, Valduga M, Bosser G, Albuisson E, Leheup B22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis. Arch Pediatr. 2017 Nov;24(11):1067-1075.  
  17. Kapadia R, Bassett AS. Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. Can Med Assoc J 2008;178:391-3.
  18. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet (London, England). 2007;370(9596):1443-52.
  19. McDonald-McGinn DM, E. Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, 22q11.2 deletion syndrome;  Nature reviews | disease primers 2015
  20. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome Seattle (WA): University of Washington, Seattle
  21. Oskarsdottir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 2005; 164:146-53.
  22. Pawina Jiramongkolchai a, Manvinder S. Kumar b, Sivakumar Chinnadurai c, Christopher T. Wootten c, Steven L. Goudy. Prevalence of hearing loss in children with 22q11.2 deletion syndrome;International Journal of Pediatric Otorhinolaryngology 87 (2016) 130e133
  23. Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., Van den Bree, M. B. M.; Consortium, t. I. q. D. S. (2014). Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry, 171(6), 627-639.
  24. Shugar AL,Shapiro JM, Cytrynbaum C, Hedges S, Weksberg R, Fishman L. 2015.An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome. Am J Med Genet Part A 167A:1560–1564.
  25. Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. Immunol Allergy Clin North Am 2008;28:353-66.
  26. University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993 [updated 28-02-2013].
  27. Vorstman, J. A., Breetvelt, E., Duijff, S. N., Jalbrzikowsk, M., Vogels, A., Swillen, A., International 22q11.2 Brain Behavior Syndrome Consortium. (2015). Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion
  28. Van L, Heung T, Graffi J, et al. All-cause mortality and survival in adults with 22q11.2 deletion syndrome. Genet Med. 2019;21(10):2328-2335.
  29. Wither RG, Borlot F, MacDonald A, Butcher NJ. 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy; Epilepsia:1–7, 2017 

Richtlijnen

  1. NVAVG Medische begeleiding van mensen met VCFS / 22q11.2 deletiesyndroom. Informatie en advies voor (huis)arts en tandarts.
  2. De Wit et al. (2019). Multidisciplinaire Richtlijn Visuele beperkingen bij mensen met een verstandelijke beperking. NVAVG, 2019.
  3. Multidisciplinaire richtlijn  probleemgedrag bij volwassenen met een verstandelijke beperking.
  4. Handreiking kinderwens en anticonceptie bij mensen met een verstandelijke beperking
  5. NVAVG handreiking Screening, diagnostiek en behandeling van slechthorendheid bij verstandelijk gehandicapten (2019).
Websites
Overige bronnen
  1. Syndroomreferaat van de AVG-opleiding in het Erasmus MC Rotterdam
  2. Informatiebrief van de Vereniging van Klinische Genetici Nederland (VKGN) over het 22q11 deletiesyndroom
  3. NVAVG Medische begeleiding van mensen met VCFS / 22q11.2 deletiesyndroom. Informatie en advies voor (huis)arts en tandarts
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