Dataset Information

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

ABSTRACT: Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding the prevalence of liver disease and the occurrence of liver symptoms in CDG patients. The network of patient advocacy groups, families and professionals (CDG & Allies - PPAIN) developed the LeQCDG by adapting validated published questionnaires. The LeQCDG was approved by an ethics committee, and the recruitment of patients and caregivers proceeded through social media platforms. Participants were asked to report past or present liver-related symptoms (e.g. hepatomegaly, liver fibrosis and cirrhosis) and laboratory results (e.g. biochemical and/or radiological). From 11 December 2016 to 22 January 2017, 155 questionnaires were completed. Liver disease was present in 29.9% of CDG patients. Main symptoms reported included hepatomegaly, increased levels of serum transaminases, fibrosis, steatosis and cirrhosis. The data obtained in this online survey confirm findings from a recent literature review of 25 years of published evidence (r = 0.927, P = 0.02). Our questionnaire collected large amounts of meaningful, clinical and patient-oriented data in a short period of time without geographic limitations. Internet-based approaches are especially relevant in the context of ultra-rare diseases such as CDG.

SUBMITTER: Marques-da-Silva D

PROVIDER: S-EPMC6323018 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

Marques-da-Silva D D Francisco R R Dos Reis Ferreira V V Forbat L L Lagoa R R Videira P A PA Witters P P Jaeken J J Cassiman D D

JIMD reports 20180715

Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding th ...[more]

PMID: 30008170

Similar Datasets

Project description:BackgroundPatient-centered care is an essential component of health care quality. To achieve patient-centered care, health care authorities should have a clear definition and an applicable tool to measure the extent of its application. The real concept of patient centeredness should be developed by the patients themselves. We aimed to demonstrate a way to develop a draft Arabic patient-centered infertility care (PCIC) questionnaire for females clients following practical steps that address women with infertility.MethodsAn iterative process of questionnaire development was undertaken by combining two approaches: the steps proposed by Robert F. DeVellis for scale development and the recommended practices for questionnaire development and testing in the European statistical system. We attempted to develop the draft questionnaire that involved conceptualization and operationalization, generation of an item pool, development of the questionnaire format, review of the initial item pool by experts, and consideration of validation items for inclusion.ResultsWe generated an item pool from in-depth interviews with 14 women who sought infertility care within 6 months before the interview time. We then added more items from a literature review. The item pool contained 123 items distributed through 10 domains. Ten women with infertility were included for face validation. Then, experts with backgrounds in Obstetrics and Gynecology, Family Medicine, and Public Health reviewed the item pool using content validation (n = 10 professors and/or specialists). The item pool was finally reduced to 57 items. We developed the draft Arabic patient-centered infertility care questionnaire for female clients (PCIQ-F) with three sections, including 66 items: background variables, PCIC experience variables, and a general question about the quality of infertility care in the health facility. The draft questionnaire was further reviewed and edited last by experts in preparation for part 2, which will test the questionnaire and prepare the final version.ConclusionThe PCIQ-F questionnaire development is a multi-step iterative process started and ended by the target users as experts. Experts' participation in infertility care and in questionnaire format development had a great impact on questionnaire development and conflict resolution. We recommend this transparent and replicable approach for new instrument developers; it is likely to generate a questionnaire that is valid and acceptable to target users. The draft PCIQ-F questionnaire is ready for testing of its psychometric properties before the final version to measure the PCIC level in health facilities.

Dataset Information

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

Publications

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure