Dataset Information

Patient's Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires.

ABSTRACT:

Introduction

Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Timely diagnosis is of uttermost importance. Therefore, we aimed to develop a diagnostic questionnaire with computerized pattern-recognition in order to support physicians to identify suspicious patient histories.

Materials and methods

Standardized interviews were conducted with guardians of children with PID. The questionnaire based on parental observations was developed using Colaizzis' framework for content analysis. Answers from 64 PID patients and 62 controls were analyzed by data mining methods in order to make a diagnostic prediction. Performance was evaluated by k-fold stratified cross-validation.

Results

The diagnostic support tool achieved a diagnostic sensitivity of up to 98%. The analysis of 12 interviews revealed 26 main phenomena observed by parents in the pre-diagnostic period. The questions were systematically phrased and selected resulting in a 36-item questionnaire. This was answered by 126 patients with or without PID to evaluate prediction. Item analysis revealed significant questions.

Discussion

Our approach proved suitable for recognizing patterns and thus differentiates between observations of PID patients and control groups. These findings provide the basis for developing a tool supporting physicians to consider a PID with a questionnaire. These data support the notion that patient's experience is a cornerstone in the diagnostic process.

SUBMITTER: Mucke U

PROVIDER: S-EPMC5380667 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Publications

Patient's Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires.

Mücke Urs U Klemann Christian C Baumann Ulrich U Meyer-Bahlburg Almut A Kortum Xiaowei X Klawonn Frank F Lechner Werner M WM Grigull Lorenz L

Frontiers in immunology 20170405

<h4>Introduction</h4>Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Timely diagnosis is of uttermost importance. Therefore, we aimed to develop a diagnostic questionnaire with computerized pattern-recognition in order to support physicians to identify suspicious patient histories.<h4>Materials and methods</h4>Standardized interviews were conducted with guardians of children with PID. The questionnaire based on parental observations was develop ...[more]

PMID: 28424699

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Project description:Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is to critically review, analyse, and synthesise the literature in order to understand the experiences of patients with primary ciliary dyskinesia (PCD) and the impact on health-related quality of life.MEDLINE, EBSCO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO and EMBASE were searched according to the inclusion criteria. A qualitative analysis of 14 studies was conducted.Fourteen studies were included in the review, five with qualitative methodologies. Studies originated from the UK, USA, Italy, Denmark and Belgium, one study included a survey distributed internationally. Significant relationships were found between age and worsening of respiratory symptoms, physical, and mental domains of health-related quality of life, with a greater decline compared with reference populations. Variations between the UK and Italy were found for health-related quality of life and its correlation with time since diagnosis. PCD was found to have a physical impact in all age groups: patients found it difficult to keep up with others, and found energy levels were easily depleted compared to family or peers. In terms of social impact, symptoms lead to embarrassment and a sense of isolation, with patients concealing symptoms and/or their diagnosis. In turn, isolation was also linked with the lack of public and medical knowledge. In relation to emotional impact, anxiety was reported in a number of qualitative studies; patients were anxious about getting sick or when thinking about their future health. The burden of treatment and factors influencing adherence were also discussed in depth.Health-related quality of life decreases with age in patients with PCD. For all age groups, PCD was found to greatly impact physical, emotional, social functioning, and treatment burden. More research is needed on the psychosocial impact of the illness, disease burden and its effect on quality of life.

Dataset Information

Patient's Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires.

Introduction

Materials and methods

Results

Discussion

Publications

Patient's Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires.

Similar Datasets

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