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Healthcare on Rare Diseases
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Healthcare on Rare Diseases

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Nursing".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 17823

Special Issue Editors

Dr. Juan Carlos Sánchez-García

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Guest Editor
Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain
Interests: rare diseases and pregnant women
Special Issues, Collections and Topics in MDPI journals
Dr. Raquel Rodríguez-Blanque

E-Mail Website
Guest Editor
Department of Nursing, Faculty of Health Sciences, University of Granada, 18016 Granada, Spain
Interests: rare diseases and pregnant women
Special Issues, Collections and Topics in MDPI journals
Dr. Jonathan Cortés Martín

E-Mail Website
Guest Editor
Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain
Interests: rare diseases and pregnant women
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

To date, more than 7000 rare diseases have been described around the world, yet minimum scientific knowledge has been generated for only about 800 of them. Eighty percent of rare diseases have a genetic origin and high mortality rates. Rare diseases are those diseases with an incidence of less than 5 cases per 10,000 live births. The main problems that are faced by patients diagnosed with one of these diseases are chronicity, their degenerative nature, and their high likelihood of causing disabilities. In most cases, there is a delay in diagnosis due to the generalized lack of knowledge in the field of rare diseases, the difficulties in accessing the needed information, and an insufficient number of specialized healthcare professionals and centers. In many cases, finding an effective treatment is often a very complex process, in which the role of the nursing teams is essential, as they are best equipped to offer the evidence-based quality care patients need in order to guarantee the maintenance and improvement of their quality of life. The Special Issue “Healthcare on Rare Diseases” intends to highlight the importance of healthcare and the management of rare diseases by providing an update on the available information on this type of diseases, through the description of new cases and the planification of specific guidelines and protocols that will improve clinical practice. The multidisciplinary approach that the world of rare diseases needs must take into account the perspective of all fields of healthcare: medicine, nursing, physiotherapy, podiatry, psychology, etc., all of which shall be welcome in this Special Issue.

Dr. Juan Carlos Sánchez-García
Dr. Raquel Rodríguez-Blanque
Dr. Jonathan Cortés Martín
Guest Editors

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare disease
  • nursing care plan
  • clinical practice
  • health and wellbeing
  • diagnosis
  • care pathway
  • public health
  • epidemiology
  • patient registries

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Published Papers (7 papers)

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Editorial

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2 pages, 287 KiB  
Editorial
Health Care on Rare Diseases
by Jonathan Cortés-Martín, Juan Carlos Sánchez-García and Raquel Rodríguez-Blanque
Int. J. Environ. Res. Public Health 2023, 20(1), 395; https://doi.org/10.3390/ijerph20010395 - 27 Dec 2022
Cited by 1 | Viewed by 1588
Abstract
Rare diseases are a subject of great scientific and health interest that has been on the rise in recent years [...] Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)

Research

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11 pages, 327 KiB  
Article
School Problems and School Support for Children with Narcolepsy: Parent, Teacher, and Child Reports
by Karin Janssens, Pauline Amesz, Yvonne Nuvelstijn, Claire Donjacour, Danielle Hendriks, Els Peeters, Laury Quaedackers, Nele Vandenbussche, Sigrid Pillen and Gert Jan Lammers
Int. J. Environ. Res. Public Health 2023, 20(6), 5175; https://doi.org/10.3390/ijerph20065175 - 15 Mar 2023
Viewed by 3068
Abstract
Objective: To assess problems faced by children with type 1 narcolepsy (NT1) at school and obtain insight into potential interventions for these problems. Methods: We recruited children and adolescents with NT1 from three Dutch sleep-wake centers. Children, parents, and teachers completed questionnaires about [...] Read more.
Objective: To assess problems faced by children with type 1 narcolepsy (NT1) at school and obtain insight into potential interventions for these problems. Methods: We recruited children and adolescents with NT1 from three Dutch sleep-wake centers. Children, parents, and teachers completed questionnaires about school functioning, interventions in the classroom, global functioning (DISABKIDS), and depressive symptoms (CDI). Results: Eighteen children (7–12 years) and thirty-seven adolescents (13–19 years) with NT1 were recruited. Teachers’ most frequently reported school problems were concentration problems and fatigue (reported by about 60% in both children and adolescents). The most common arrangements at school were, for children, discussing school excursions (68%) and taking a nap at school (50%) and, for adolescents, a place to nap at school (75%) and discussing school excursions (71%). Regular naps at home on the weekend (children 71% and adolescents 73%) were more common than regular naps at school (children 24% and adolescents 59%). Only a minority of individuals used other interventions. School support by specialized school workers was associated with significantly more classroom interventions (3.5 versus 1.0 in children and 5.2 versus 4.1 in adolescents) and napping at school, but not with better global functioning, lower depressive symptom levels, or napping during the weekends. Conclusions: Children with NT1 have various problems at school, even after medical treatment. Interventions to help children with NT1 within the classroom do not seem to be fully implemented. School support was associated with the higher implementation of these interventions. Longitudinal studies are warranted to examine how interventions can be better implemented within the school. Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)
12 pages, 1348 KiB  
Article
Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center
by Jaehee Seol, Seyong Jung, Hong Koh, Jowon Jung and Yunkoo Kang
Int. J. Environ. Res. Public Health 2023, 20(3), 2191; https://doi.org/10.3390/ijerph20032191 - 25 Jan 2023
Viewed by 1879
Abstract
Glycogen storage disease (GSD) is a hereditary metabolic disorder caused by enzyme deficiency resulting in glycogen accumulation in the liver, muscle, heart, or kidney. GSD types II, III, IV, and IX are associated with cardiac involvement. However, cardiac manifestation in other GSD types [...] Read more.
Glycogen storage disease (GSD) is a hereditary metabolic disorder caused by enzyme deficiency resulting in glycogen accumulation in the liver, muscle, heart, or kidney. GSD types II, III, IV, and IX are associated with cardiac involvement. However, cardiac manifestation in other GSD types is unclear. This study aimed to describe whether energy deprivation and the toxic effects of accumulated glycogen affect the heart of patients with GSD. We evaluated the left ventricle (LV) wall mass, LV systolic and diastolic function and myocardial strain with conventional echocardiography and two-dimensional speckle-tracking echocardiography (2D STE) in 62 patients with GSD type I, III, VI and IX who visited the Wonju Severance Hospital in 2021. Among the GSD patients, the echocardiographic parameters of 55 pediatrics were converted into z-scores and analyzed. Of the patients, 43 (62.3%), 7 (11.3%) and 12 (19.4%) patients were diagnosed with GSD type I, type III, and type IX, respectively. The median age was 9 years (range, 1–36 years), with 55 children under 18 years old and seven adults over 18 years. For the 55 pediatric patients, the echocardiographic parameters were converted into a z-score and analyzed. Multiple linear regression analysis showed that the BMI z-score (p = 0.022) and CK (p = 0.020) predicted increased LV mass z-score, regardless of GSD type. There was no difference in the diastolic and systolic functions according to myocardial thickness; however, 2D STE showed a negative correlation with the LV mass (r = −0.28, p = 0.041). Given that patients with GSD tend to be overweight, serial evaluation with echocardiography might be required for all types of GSD. Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)
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15 pages, 600 KiB  
Article
Individualized Remotely Supervised Motor Activity Programs Promote Rehabilitation Goal Achievement, Motor Functioning, and Physical Activity of People with Rett Syndrome—A Single-Cohort Study
by Alberto Romano, Elena Ippolito, Martina Favetta, Meir Lotan and Daniel Sender Moran
Int. J. Environ. Res. Public Health 2023, 20(1), 659; https://doi.org/10.3390/ijerph20010659 - 30 Dec 2022
Cited by 1 | Viewed by 2456
Abstract
Background: Gross motor function in Rett syndrome (RTT) is always limited. The complex clinical picture typical of most people with RTT requires intensive and specific rehabilitation programs. Previous reports on remotely supervised motor activity programs suggested positive outcomes for this population. The current [...] Read more.
Background: Gross motor function in Rett syndrome (RTT) is always limited. The complex clinical picture typical of most people with RTT requires intensive and specific rehabilitation programs. Previous reports on remotely supervised motor activity programs suggested positive outcomes for this population. The current article describes the impact of a remote-supervised motor activity program carried out by family members of individuals with RTT on achieving rehabilitation goals and improving gross and fine motor functioning and daily physical activity. Methods: Forty subjects with RTT followed a three-month remotely supervised motor activity program carried out by their family members at home after a three-month baseline period. After the end of the intervention, a three-month wash-out period was implemented. Rehabilitation goal achievement, motor functioning, and level of daily physical activity were measured. Results: 82.4% of rehabilitation goals were achieved or overachieved. Participants’ motor functioning and physical activity significantly increased after the intervention (p ˂ 0.001). Improvements were maintained after the wash-out phase. Conclusions: The proposed intervention was effective for people with RTT of various ages and severity levels. The results highlight the need for lifelong, individualized, daily based, and professionally supervised rehabilitation possibilities for individuals with RTT. Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)
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19 pages, 404 KiB  
Article
Nursing Care Plan for Patients with Hajdu–Cheney Syndrome
by Jonathan Cortés-Martín, Lourdes Díaz-Rodríguez, Beatriz Piqueras-Sola, Juan Carlos Sánchez-García, María José Menor-Rodríguez and Raquel Rodríguez-Blanque
Int. J. Environ. Res. Public Health 2022, 19(12), 7489; https://doi.org/10.3390/ijerph19127489 - 18 Jun 2022
Cited by 1 | Viewed by 2972
Abstract
Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling potential. Currently, there is no effective curative treatment, so nursing care is [...] Read more.
Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling potential. Currently, there is no effective curative treatment, so nursing care is essential to ensure the maintenance of the quality of life of these patients. The main objective of this study was to establish a specific standardized nursing care plan using the NANDA–NIC–NOC taxonomy. The application of a care plan as such would improve the quality of life of patients affected by this rare disease, will contribute to increasing healthcare professionals’ knowledge on this matter and will support future studies on this disease. Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)

Review

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19 pages, 827 KiB  
Review
Health Policies for Rare Disease Patients: A Scoping Review
by Luís Carlos Lopes-Júnior, Victor Evangelista Faria Ferraz, Regina Aparecida Garcia Lima, Sara Isabel Pimentel Carvalho Schuab, Raphael Manhães Pessanha, Geisa Santos Luz, Mariana Rabello Laignier, Karolini Zuqui Nunes, Andressa Bolsoni Lopes, Jonathan Grassi, Juliana Almeida Moreira, Fabrine Aguilar Jardim, Franciéle Marabotti Costa Leite, Paula de Souza Silva Freitas and Silvia Regina Bertolini
Int. J. Environ. Res. Public Health 2022, 19(22), 15174; https://doi.org/10.3390/ijerph192215174 - 17 Nov 2022
Cited by 7 | Viewed by 2871
Abstract
Objective: To identify and map the available evidence on the implementation of public health policies directed at individuals with rare diseases, and to compare the implementation of these health policies between Brazil and other countries. Method: A scoping review guided by the PRISMA-ScR [...] Read more.
Objective: To identify and map the available evidence on the implementation of public health policies directed at individuals with rare diseases, and to compare the implementation of these health policies between Brazil and other countries. Method: A scoping review guided by the PRISMA-ScR and JBI checklists. The search for articles was conducted in eight electronic databases, MEDLINE/Pubmed, Embase, Cochrane Library, Web of Science, Scopus, CINAHL, PsycINFO, and LILACS, using controlled descriptors, synonyms, and keywords combined with Boolean operators. All steps of this review were independently conducted by two researchers. The selected studies were classified by evidence hierarchy, and a generic quantitative tool was used for the assessment of the studies. Results: A total of 473 studies were identified, of which 13 which met all the inclusion criteria were selected and analyzed. Of these studies, 61.5% (n = 8) had final scores equal to or greater than 70%, i.e., they were classified by this tool as being well-reported. The comparative analysis of international rare diseases demonstrates that public authorities’ priorities and recommendations regarding this topic also permeate and apply to the Brazilian context. Conclusions: The evaluation and monitoring of public policies directed at rare disease patients are urgent and necessary to improve and implement such policies with less bureaucracy and more determination for this unique population that requires timely and high-quality care. Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)
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Other

17 pages, 1765 KiB  
Systematic Review
Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis
by Juan R. Coca, Susana Gómez-Redondo, Alberto Soto-Sánchez, Raquel Lozano-Blasco and Borja Romero-Gonzalez
Int. J. Environ. Res. Public Health 2023, 20(2), 933; https://doi.org/10.3390/ijerph20020933 - 4 Jan 2023
Viewed by 1978
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Healthcare on Rare Diseases)
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