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. 2018 Dec 20;16(1):81.
doi: 10.1186/s12969-018-0300-7.

Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults

Gabriele Erbis  1 , Kirstin Schmidt  1   2 , Sandra Hansmann  1 , Tetiana Sergiichuk  1   3 , Christine Michler  1 , Jasmin B Kuemmerle-Deschner  1 , Susanne M Benseler  4   5
Affiliations

Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults

Gabriele Erbis et al. Pediatr Rheumatol Online J. .

Abstract

Background: Autoinflammatory diseases (AIDs) illnesses of the innate immunity resulting in clinical signs and symptoms of systemic inflammation and loss of organ functions. While pathophysiological mechanisms are heavily studied and increasingly well understood, psychosocial needs are much less explored. The disease impact on the everyday life of patients including school and work is poorly studied. The purpose of the study was to identify the spectrum of unmet needs of children, adolescents and adults living with autoinflammatory disease and their families, to define key unmet needs and strategies and to develop and evaluate a pilot intervention addressing the unmet need "school".

Methods: A single-center, mixed-method study of AID patients and their families was conducted. Consecutive patients ages ≥4 years and their families were included. Expert consulting, focus groups and questionnaires explored the patient perspective of "unmet needs in AID". Quantitative and qualitative content analyses were performed and informed the development of a framework of unmet needs. A targeted pilot multimodular intervention for the unmet need "school" was developed and tested. Health-related Quality of Life (HRQoL) was evaluated using DISABKIDS-questionnaires and psychosocial impact evaluations.

Results: The study included 83 patients and their families. These were 14 children, 9 adolescents and 25 adults with AID and 35 family members; patients' median age was 19 years (5-78). Expert consultations: 110 AID patients with 320 visits/year; 99 (90%) were children and adolescents. 78 patients and family members (94%) participated in 10 groups. Qualitative content analysis delineated 9 domains of unmet needs, the most relevant being school, health care system and public institutions. The pilot intervention"school" included 18 participants; median age was 9 years (7-16). HRQoL improved with the intervention including "understanding" by 53%, however improvement was not sustained over time.

Conclusion: Unmet needs of AID patients and families affect all areas of life. Accessible networks increasing knowledge and empowering patients, strategies supporting academic and workplace environments to ensure successful participation and integrated concepts addressing psychosocial needs are urgently needed.

Keywords: Autoinflammatory disease; Health communication; Health-related quality of life; Intervention; Participation; Psychosocial impact; Rare disease; School bullying; School performance; Unmet needs.

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Conflict of interest statement

Ethics approval and consent to participate

The study was approved by the Institutional Research Ethics Board (No. 079-2015BO2). All participating study subjects gave written informed consent or assent as appropriate.

Consent for publication

Not applicable

Competing interests

G.E. and K.S. were partially funded through the Margarete-Mueller Bull Stiftung and a research grant of Novartis Pharma. G.E. also received speaker honoraria from Novartis Pharma. C.M. was partially funded through a center grant of Novartis Pharma. S.H. received honoraria from Novartis Pharma for Advisory Board attendance. S.B. received speaker honoraria from Novartis and SOBI. J.B.K.-D. performed clinical studies with and received educational, research and center grants and honoraria from Novartis and SOBI. T.S. did not receive any funding for this work. All authors declare no conflict of interest for the published work.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Psychosocial burden of patients and their family members with autoinflammatory diseases (AID). The figure summarizes the key themes identified in focus groups of children, adolescents and adults with AID and their family members. It visualizes the areas of emotional burden of living with AID. Each circle refers to a specific burden, affecting all areas of life
Fig. 2
Fig. 2
Key domains unmet needs of patients with Autoinflammatory Diseases (AID) and their family members. The frequencies of key domains of disease impact on daily living were identified in focus groups. Those frequencies were defined for the four different groups, adolescent patients with AID, adult patients with AID, parents of AID patients and other family members of AID patients. The domains health care, school and public institutions were the three most often named areas of AID disease impact
Fig. 3
Fig. 3
Effect of the pilot school intervention on Health Related Quality of Life in autoinflammatory diseases. The effect of the pilot school intervention on the transformed score in the domain understanding, disease impact and the total transformed score Health Related Quality of Life (HRQoL) was determined using the DISABKIDS instrument in children with autoinflammatory diseases and their parents. Children/Adolescents with AID (light grey) and their parents (dark grey) assessed the effect of the intervention on the transformed score in the domain understanding (lines a), the domain impact disease (lines b) and the total transformed score HRQoL (bars a and b). The effect of the intervention was evaluated by the DISABKIDS-questionnaire. According to the domain understanding (a), impact understanding (b) and the total score HRQoL (a and b) the intervention has a positive, yet not sustained effect on the HRQoL of patients with AID
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