Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: a Delphi exercise
Abstract
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. 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. 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. 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.
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22q11 Deletion Syndrome
22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.