Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: a Delphi exercise
Ana Paula Carvalho Corrêa; Carla Trevisan Martins Ribeiro; Dafne Dain Gandelman Horovitz; Luciana Castaneda Ribeiro
Abstract
Purpose: The aim of this study was to identify the most typical and relevant categories of the International Classification of Functioning, Disability and Health (ICF) for patients with 22q11.2 Deletion Syndrome. Methods: Based on the Delphi technique an expert survey through e-mail was performed among health professionals’ specialists in the 22q11.2DS. Data were collected in 2 rounds. Answers were analysed for the degree of consensus. Results: 7 Experts recruited through e-mail distribution lists of professional organizations and personal networks participated in the study. Categories in all ICF components that were considered typical and/or relevant by at least 80% of the responders were added to a pilot ICF instrument for children with 22q11.2DS, with a total of 145 ICF categories. Conclusion: a list of ICF categories that are considered relevant and typical for 22q11.2DS condition by international experts was created. This is an important step towards identifying ICF Core Sets for chronic paediatric conditions in Brazil
Keywords
Referências
1 Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet. 10 de julho de 1998;81(4):328-37. PMCID: PMC3173497. PMid: 9674980. [ Links ]
2 Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr. dezembro de 2005;17(6):725-30. PMid: 16282778. DOI: 10.1097/01.mop.0000184465.73833.0b. [ Links ]
3 Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. PMid: 18636631. PMCID: PMC2805186. DOI: 10.1002/ddrr.2. [ Links ]
4 Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 10 de outubro de 2006;140A(19):2063-74. PMid: 16917849. DOI: 10.1002/ajmg.a.31416. [ Links ]
5 Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet Lond Engl. 20 de outubro de 2007;370(9596):1443-52. PMid: 17950858. DOI: 10.1016/S0140-6736(07)61601-8. [ Links ]
6 McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med Off J Am Coll Med Genet. fevereiro de 2001;3(1):23-9. PMid: 11339373. DOI: 10.1097/00125817-200101000-00006. [ Links ]
7 Cunningham BJ, Washington KN, Binns A, Rolfe K, Robertson B, Rosenbaum P. Current Methods of Evaluating Speech-Language Outcomes for Preschoolers With Communication Disorders: A Scoping Review Using the ICF-CY. J Speech Lang Hear Res. 1o de fevereiro de 2017;60(2):447. PMid: 28219081. DOI: 10.1044/2016_JSLHR-L-15-0329. [ Links ]
8 Washington KN. Using the ICF within speech-language pathology: Application to developmental language impairment. Adv Speech Lang Pathol. janeiro de 2007;9(3):242-55. DOI: 10.1080/14417040701261525. [ Links ]
9 Westby C. Application of the ICF in Children with Language Impairments. Semin Speech Lang. novembro de 2007;28(4):265-72. PMid: 17935011. DOI: 10.1055/s-2007-986523. [ Links ]
10 Cunningham BJ, Rosenbaum PL. A Bioecological framework to evaluate communicative participation outcomes for preschoolers receiving speech-language therapy interventions in Ontario, Canada: Communicative participation: a bioecological approach. Int J Lang Commun Disord. julho de 2015;50(4):405-15. DOI: 10.1111/1460-6984.12145. [ Links ]
11 World Health Organization. Towards a Common Language for Functioning, Disability and Health - ICF [Internet]. Geneva; 2002 [citado 4 de setembro de 2018]. Disponível em: http://www.who.int/classifications/icf/icfbeginnersguide.pdf [ Links ]
12 Farias N, Buchalla CM. A classificação internacional de funcionalidade, incapacidade e saúde da organização mundial da saúde: conceitos, usos e perspectivas. Rev Bras Epidemiol. junho de 2005;8(2):187-93. DOI: 10.1590/S1415-790X2005000200011. [ Links ]
13 Linstone HA, Turoff M, Helmer O, organizadores. The Delphi method: techniques and applications. Reading, Mass.: Addison-Wesley; 1975. 620 p. DOI: 10.2307/3150755. [ Links ]
14 CFF: Conselho Federal de Fonoaudiologia. Guia Norteador sobre a CIF em Fonoaudiologia. [Internet]. 2013 [citado 3 de junho de 2019]. Disponível em: http://www.fonoaudiologia.org.br/cffa/index.php/guias-e-manuais/ [ Links ]
15 Stucki G, Pollock A, Engkasan JP, Selb M. How to use the International Classification of Functioning, Disability and Health as a reference system for comparative evaluation and standardized reporting of rehabilitation interventions. Eur J Phys Rehabil Med [Internet]. maio de 2019 [citado 12 de outubro de 2019];55(3). Disponível em: https://www.minervamedica.it/index2.php?show=R33Y2019N03A0384 [ Links ]
16 Constand MK, MacDermid JC. Applications of the International Classification of Functioning, Disability and Health in goal-setting practices in healthcare. Disabil Rehabil. julho de 2014;36(15):1305-14. PMid: 24151819. DOI: 10.3109/09638288.2013.845256. [ Links ]
17 Hultman CS, Riski JE, Cohen SR, Burstein FD, Boydston WR, Hudgins RJ, et al. Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. Plast Reconstr Surg. julho de 2000;106(1):16-24. PMid: 10883607. DOI: 10.1097/00006534-200007000-00004. [ Links ]
18 Bish JP, Nguyen V, Ding L, Ferrante S, Simon TJ. Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Neuroreport. 28 de junho de 2004;15(9):1413-5. PMid: 15194864. DOI: 10.1097/01.wnr.0000129855.50780.85. [ Links ]
19 Zim S, Schelper R, Kellman R, Tatum S, Ploutz-Snyder R, Shprintzen R. Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Arch Facial Plast Surg. dezembro de 2003;5(6):503-10. PMid: 14623689. DOI: 10.1001/archfaci.5.6.503. [ Links ]
20 Vorstman JAS, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, et al. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry. abril de 2015;72(4):377-85. PMid: 25715178. PMCID: PMC4383767. DOI: 10.1001/jamapsychiatry.2014.2671. [ Links ]
21 Zori RT, Boyar FZ, Williams WN, Gray BA, Bent-Williams A, Stalker HJ, et al. Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am J Med Genet. 28 de abril de 1998;77(1):8-11. PMid: 9557885. [ Links ]
22 Boorman JG, Varma S, Ogilvie CM. Velopharyngeal incompetence and chromosome 22q11 deletion. Lancet Lond Engl. 10 de março de 2001;357(9258):774. DOI: 10.1016/S0140-6736(00)04183-0. [ Links ]
23 Ruiter EM, Bongers EMHF, Smeets DFCM, Kuijpers-Jagtman AM, Hamel BCJ. No justification of routine screening for 22q11 deletions in patients with overt cleft palate. Clin Genet. setembro de 2003;64(3):216-9. PMid: 12919136. DOI: 10.1034/j.1399-0004.2003.00134.x. [ Links ]
24 Simon TJ, Bearden CE, Mc-Ginn DM, Zackai E. Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex J Devoted Study Nerv Syst Behav. abril de 2005;41(2):145-55. PMid: 15714897. PMCID: PMC4318636. [ Links ]
25 Simon TJ, Takarae Y, DeBoer T, McDonald-McGinn DM, Zackai EH, Ross JL. Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia. 15 de janeiro de 2008;46(1):82-94. PMid: 17920087. PMCID: PMC2249611. DOI: 10.1016/j.neuropsychologia.2007.08.016. [ Links ]
26 Rihs TA, Tomescu MI, Britz J, Rochas V, Custo A, Schneider M, et al. Altered auditory processing in frontal and left temporal cortex in 22q11.2 deletion syndrome: a group at high genetic risk for schizophrenia. Psychiatry Res. 30 de maio de 2013;212(2):141-9. PMid: 23137800. DOI: 10.1016/j.pscychresns.2012.09.002. [ Links ]
27 Bish JP, Ferrante SM, McDonald-McGinn D, Zackai E, Simon TJ. Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Dev Sci. janeiro de 2005;8(1):36-43. PMid: 15647065. DOI: 10.1111/j.1467-7687.2005.00391.x. [ Links ]
28 Sobin C, Kiley-Brabeck K, Karayiorgou M. Associations between prepulse inhibition and executive visual attention in children with the 22q11 deletion syndrome. Mol Psychiatry. junho de 2005;10(6):553-62. PMid: 15520831. PMCID: PMC2755248. DOI: 10.1038/sj.mp.4001609. [ Links ]
29 Niklasson, L, Rasmussen, P, Oskarsdóttir, S, Gillberg, C, Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil. agosto de 2009;30(4):763-73. PMid: 19070990. DOI: 10.1016/j.ridd.2008.10.007. [ Links ]
30 Niklasson L, Gillberg C. The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Res Dev Disabil. fevereiro de 2010;31(1):185-94. PMid: 19815377. DOI: 10.1016/j.ridd.2009.09.001. [ Links ]
31 Walker MB, Miller CT, Coffin Talbot J, Stock DW, Kimmel CB. Zebrafish furin mutants reveal intricacies in regulating Endothelin1 signaling in craniofacial patterning. Dev Biol. julho de 2006;295(1):194-205. PMid: 16678149. DOI: 10.1016/j.ydbio.2006.03.028. [ Links ]
32 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. novembro de 2009;48(11):1060-8. PMid: 19797984. DOI: 10.1097/CHI.0b013e3181b76683. [ Links ]
33 Joyce P, O’Rourke C, McDermott B, Heussler H. Health-related quality of life in 22q11.2 deletion syndrome: The child’s perspective: Health-related quality of life in velocardiofacial syndrome. J Paediatr Child Health. março de 2018;54(3):311-5. PMid: 29083072. DOI: 10.1111/jpc.13746. [ Links ]
34 Boonen A, van Berkel M, Kirchberger I, Cieza A, Stucki G, van der Heijde D. Aspects relevant for functioning in patients with ankylosing spondylitis according to the health professionals: a Delphi study with the ICF as reference. Rheumatology. agosto de 2009;48(8):997-1002. PMid: 19542213. DOI: 10.1093/rheumatology/kep150. [ Links ]
35 STUCKI G, BICKENBACH J. Functioning: the third health indicator in the health system and the key indicator for rehabilitation. Eur J Phys Rehabil Med [Internet]. fevereiro de 2017 [citado 12 de outubro de 2019];(1). Disponível em: http://www.minervamedica.it/index2.php?show=R33Y2017N01A0134 [ Links ]
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