Citation: Coca, J.R.; Gómez-
Redondo, S.; Soto-Sánchez, A.;
Lozano-Blasco, R.; Romero-
Gonzalez, B. Perception of Social and
Educational Quality of Life of Minors
Diagnosed with Rare Diseases: A
Systematic Review and Meta-
Analysis. Int. J. Environ. Res. Public
Health 2023, 20, 933. https://
doi.org/10.3390/ijerph20020933
Academic Editors: Juan Carlos
Sánchez-García, Jonathan Cortés
Martín and Raquel
Rodríguez-Blanque
Received: 24 November 2022
Revised: 31 December 2022
Accepted: 3 January 2023
Published: 4 January 2023
Copyright: © 2023 by the authors.
Licensee MDPI, Basel, Switzerland.
This article is an open access article
distributed under the terms and
conditions of the Creative Commons
Attribution (CC BY) license (https://
creativecommons.org/licenses/by/
4.0/).
International Journal of
Environmental Research
and Public Health
Systematic Review
Perception of Social and Educational Quality of Life of Minors
Diagnosed with Rare Diseases: A Systematic Review
and Meta-Analysis
Juan R. Coca
1
, Susana Gómez-Redondo
2
, Alberto Soto-Sánchez
3,
* , Raquel Lozano-Blasco
4
and Borja Romero-Gonzalez
3
1
Social Research Unit on Health and Rare Diseases and Transdisciplinary Center for Research in Education,
Department of Sociology and Social Work, University of Valladolid, 42004 Soria, Spain
2
Social Research Unit on Health and Rare Diseases and Transdisciplinary Center for Research in Education,
Department of Pedagogy, University of Valladolid, 42004 Soria, Spain
3
Social Research Unit on Health and Rare Diseases, Department of Psychology, University of Valladolid,
42004 Soria, Spain
4
Psychology and Sociology Department, Faculty of Education, University of Zaragoza, 50009 Zaragoza, Spain
* Correspondence: alberto.soto@uva.es
Abstract: This study explores the perception of social and educational quality of life in minors with
rare diseases (RDs). Two meta-analyses were performed, applying the random effects model. Results:
Regarding the social Quality of Life, the meta-sample consisted of k = 40 samples, with a total
population of 1943 children (mean age = 9.42 years), of whom 687 (35.3%) were girls, 615 (31.4%)
were boys and 641 (33%) did not report their sex. The effect size was large (mean size = 7.68; p < 0.000;
99% Confidence Interval; lower limit = 7.22; upper limit = 8.14). The results of the meta-regression and
model analysis showed the importance of the measurement instrument (Paediatric Quality-of-Life
Inventory and Prototypes of the Quality of life) and the dissimilarity of perception among caregivers.
The nationality and the type of RD were not relevant. With respect to the educational Quality of Life,
the meta-sample consisted of k = 19 samples, with 699 minors (mean age = 10.3 years), of whom 266
(38%) were girls, 242 (34.6%) were boys and 191 (27.4%) did not report their sex. The effect size was
large (mean size = 7.15; p < 0.000; 99% CI; lower limit = 6.35; upper limit = 7.94). The meta-regression
and comparison of models showed that the type of RD was essential. The measurement instrument
was a moderating variable, especially the Parent version Paediatric Quality-of-Life Inventory. This
study reveals the need for further research on RDs and their social–educational effects.
Keywords: rare diseases; quality of life; social-educational
1. Introduction
The term rare disease (RD) refers to a large number of conditions with a very low
prevalence rate. In fact, in the year 2000, the European Union considered that a condition
could be classified as rare when it presents a prevalence rate of 1 out of 2000 people [1]. It
has been estimated that 300 to 400 million people worldwide have a RD [2]. Nowadays,
there are 6000 to 8000 conditions included in this concept [3]. As was indicated, the notion
of RD comprises a very large diversity of conditions. However, all of these conditions share
common elements that make them treatable, as a single entity. Many of these conditions
generate disabilities and chronic affectations, with delayed diagnoses and around 80%
of monogenic conditions [4]. Moreover, most of those affected by a rare disease receive
treatments to alleviate their symptoms, since their pathologies cannot be cured [2].
RDs mostly affect the youngest sectors of the population (children and adolescents),
with a great emotional impact on those affected by RDs and their families [5]. This is due to
the fact that the population affected by RDs requires great care, and the existence of an RD
Int. J. Environ. Res. Public Health 2023, 20, 933. https://doi.org/10.3390/ijerph20020933 https://www.mdpi.com/journal/ijerph