Revisión Sistemática Sobre el Funcionamiento Familiar en Familias con un Hijo con una Enfermedad Poco Frecuente / Systematic Review on Family Functioning in Families of Children With Rare Diseases

El presente estudio es una revisión sistemática de las investigaciones realizadas sobre el funcionamiento familiar en familias con niños con una enfermedad poco frecuente. La búsqueda se realizó en las bases de datos Pubmed, EBSCO y Google Académico, siguiendo los lineamientos PRISMA. Luego de aplicar los criterios de inclusión y exclusión a los artículos 460 encontrados inicialmente, un total de 55 artículos conformaron la muestra final. A partir del análisis de los resultados se establecieron las siguientes temáticas abordadas en relación al funcionameinto familiar: impacto del diagnóstico; función y responsabilidades del cuidador; funcionamiento familiar; impacto en la esfera emocional; efectos en la vida conyugal y social; estrategias de afrontamiento; familia, cuidados y sistema de salud. Los hallazgos de este estudio pueden proporcionar una justificación para considerar los factores asociados al funcionamiento familiar al momento de dar el diagnóstico de una EPOF y pensar un tratamiento.(AU)

The present study is a systematic review of the research on family functioning in families who have a child with a rare disease. The research was carried out using the databases Pubmed, EBSCO, and Google Scholar, following PRISMA guidelines. After applying the inclusion and exclusion criteria to the 460 articles initially found, a total of 55 articles made up the final sample. The following topics regarding family functioning were identified: impact of diagnosis; caregiver’s role and responsibilities; family functioning; impact on the emotional sphere; effects on marital and social life; coping strategies; family, and care and health system. The results of this study may provide justification for considering factors associated with family functioning when diagnosing a rare disease and deciding on treatment.(AU)

Quality of Life of Latin-American People with Neuromuscular Disorders and Their Families During the COVID-19 Pandemic.

Objectives: The COVID-19 pandemic has affected the entire population, especially the population with chronic diseases. This study aimed to describe the quality of life of children and adults with neuromuscular diseases and their caregivers during the COVID-19 pandemic. Methods: A observational correlational study was conducted. Forty-seven participants, including adults with NMD and caregivers of children with NMD, took part in the study. The WHOQOL-BREF and PedsQL 4.0 GCS and FIM scales were used. Results: The PedsQL indicated a mean of 55.85 (SD = 22.05) for children, and a mean of 55.76 (SD = 16.72) for caregivers. Adults reported a mean of 67 (SD = 22.5) for their general perception of quality of life, and a M = 53 (SD = 28.25) for their perception on health. Conclusions: The results showed regular to low quality of life of all children, adults, and caregivers, mainly in the physical dimension for people with neuromuscular diseases, and in the concerns dimension for caregivers. These results warn about the physical and psychological vulnerability situation in which this population finds itself.

Propiedades psicométricas de la versión en castellano del Cuestionario Calidad de Vida Pediátrica Módulo de Impacto Familiar (PedsQL FIM) / Psychometric properties of the Spanish version of the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM)

Introducción: Este trabajo analiza las propiedades psicométricas de la versión en castellano del Cuestionario de calidad de vida pediátrica módulo de impacto familiar (PedsQL FIM) en población argentina. Pacientes y métodos: Se obtuvo una muestra de 232 cuidadores, 108 de niños con enfermedades crónicas (M=9,54, DE=4,43) y 124 de niños de población general (M=12,37, DE=4,6). Resultados: La validez del instrumento se estudió a través del método de grupos contrastados, encontrando diferencias significativas en la escala total y subdimensiones de la escala (p<0,01). A su vez, se realizó un análisis factorial exploratorio en el que se encontró un modelo de 8 factores explicando el 74,02% de la varianza total. La confiabilidad fue estudiada a través del coeficiente alfa de Cronbach y se encontró un valor alto de consistencia interna α=0,95. Conclusiones: El instrumento PedsQL demostró ser una herramienta válida y confiable para estudiar el impacto que tiene una condición pediátrica crónica a nivel de la calidad de vida del cuidador y del funcionamiento familiar. (AU)

Introduction: This study analysed the psychometric properties of the Spanish version of the Pediatric Quality of Life Questionnaire Family Impact Module (PedsQL FIM) in the Argentinian population. Patients and methods: The sample included 232 caregivers, of who 108 were parents of children with chronic diseases (mean, 9.54; standard deviation [SD], 4.43) and 124 parents of children in the general population (mean, 12.37; SD, 4.6). Results: We assessed the validity of the instrument with the known-groups method, finding significant differences between the case and control groups in the overall and subscale scores (P<.01). We also assessed test validity by means of exploratory factor analysis, which yielded an 8-factor model that explained 74.03% of the variance. We assessed reliability with the Cronbach alpha and found a high internal consistency (α=.95). Conclusion: The PedsQL module proved to be a valid and reliable tool to assess the impact of a chronic paediatric condition on caregiver quality of life and family functioning.

Photosynthetic microorganisms for the oxygenation of advanced 3D bioprinted tissues.

3D bioprinting technology has emerged as a tool that promises to revolutionize the biomedical field, including tissue engineering and regeneration. Despite major technological advancements, several challenges remain to be solved before 3D bioprinted tissues could be fully translated from the bench to the bedside. As oxygen plays a key role in aerobic metabolism, which allows energy production in the mitochondria; as a consequence, the lack of tissue oxygenation is one of the main limitations of current bioprinted tissues and organs. In order to improve tissue oxygenation, recent approaches have been established for a broad range of clinical applications, with some already applied using 3D bioprinting technologies. Among them, the incorporation of photosynthetic microorganisms, such as microalgae and cyanobacteria, is a promising approach that has been recently explored to generate chimerical plant-animal tissues where, upon light exposure, oxygen can be produced and released in a localized and controlled manner. This review will briefly summarize the state-of-the-art approaches to improve tissue oxygenation, as well as studies describing the use of photosynthetic microorganisms in 3D bioprinting technologies. STATEMENT OF SIGNIFICANCE: 3D bioprinting technology has emerged as a tool for the generation of viable and functional tissues for direct in vitro and in vivo applications, including disease modeling, drug discovery and regenerative medicine. Despite the latest advancements in this field, suboptimal oxygen delivery to cells before, during and after the bioprinting process limits their viability within 3D bioprinted tissues. This review article first highlights state-of-the-art approaches used to improve oxygen delivery in bioengineered tissues to overcome this challenge. Then, it focuses on the emerging roles played by photosynthetic organisms as novel biomaterials for bioink generation. Finally, it provides considerations around current challenges and novel potential opportunities for their use in bioinks, by comparing latest published studies using algae for 3D bioprinting.

Psychometric properties of the Spanish version of the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM).

INTRODUCTION: This study analysed the psychometric properties of the Spanish version of the Pediatric Quality of Life Questionnaire Family Impact Module (PedsQL FIM) in the Argentinian population. PATIENTS AND METHODS: The sample included 232 caregivers, of who 108 were parents of children with chronic diseases (mean, 9.54; standard deviation [SD], 4.43) and 124 parents of children in the general population (mean, 12.37; SD, 4.6). RESULTS: We assessed the validity of the instrument with the known-groups method, finding significant differences between the case and control groups in the overall and subscale scores (P < .01). We also assessed test validity by means of exploratory factor analysis, which yielded an 8-factor model that explained 74.03% of the variance. We assessed reliability with the Cronbach alpha and found a high internal consistency (α=0.95). CONCLUSION: The PedsQL module proved to be a valid and reliable tool to assess the impact of a chronic paediatric condition on caregiver quality of life and family functioning.

Niveles de calidad de vida en niños, adolescentes y adultos con discapacidad y en su sistema familiar, durante la pandemia por COVID-19 en una muestra latinoaméricana / Nivells de qualitat de vida en nens, adolescents i adults amb discapacitat i en el seu sistema familiar, durant la pandèmia per COVID-19 en una mostra llatinoamericana / Quality of life levels in children, adolescents, and adults with disabilities and their family system during the COVID-19 pandemic in a Latin American sample

Este estudio se propuso describir la calidad de vida de niños y adultos con discapacidad, así como la calidad de vida de su sistema familiar en una muestra de Latinoamérica. Se utilizaron los instrumentos WHOQOL-BREF y PedsQL 4.0. Los resultados mostraron una baja calidad de vida de todos los grupos estudiados, principalmente en la dimensión social para adultos y niños, y en las dimensiones de preocupaciones y actividades diarias para su familia. Esta población parecería verse particularmente afectada durante la pandemia por COVID-19.(AU)

This study aimed to describe the quality of life of children and adults with disabilities, as well as the quality of life of their family system in a Latin American sample. The WHOQOL-BREF and PedsQL 4.0 instruments were used. The results showed low quality of life for all groups studied, mainly in the social dimension for adults and children, and in the dimensions of concerns and daily activities for their families. This population seems to be particularly affected during the COVID-19 pandemic.(AU)

Aquest estudi es va proposar descriure la qualitat de vida de nens i adults amb discapacitat, així com la qualitat de vida del seu sistema familiar a Llatinoamèrica. Es van utilitzar els instruments WHOQOL-BREF i PedsQL 4.0. Els resultats van mostrar una baixa qualitat de vida de tots els grups estudiats, principalment en la dimensió social per a adults i nens, i en les dimensions de preocupacions i activitats diàries per a la família. Aquesta població semblaria veure's particularment afectada durant la pandèmia per COVID-19.(AU)

The Role of Associations in Reducing the Emotional and Financial Impact on Parents Caring for Children with Duchenne Muscular Dystrophy: A Cross-Cultural Study.

Caregivers' emotions and finances are affected by the deterioration of functional capacity of patients with Duchenne muscular dystrophy (DMD), both in Mexico and Spain. Patient associations may reduce this impact on caregivers. This study aims to study the role of two models of associations, inspired by two different cultural models, in how the services they provide can help decrease the emotional and financial impact on the caregivers of children with DMD. The sample consisted of 34 caregivers from Mexico and 40 from Spain recruited from Spanish hospitals and rare disease organizations in Spain and Mexico. The instruments used consisted of a sociodemographic and socioeconomic questionnaire, the CarerQol-7D, the PHQ-15, the Zarit Caregiver's Burden Scale and the SWLS. The results showed that caregivers in Mexico are in better physical and psychological health than caregivers in Spain. They also receive more subsidies than those in Spain. Caregivers in Mexico have a greater well-being and are less affected by the economic impact of the disease due to the associations' day-to-day work and the fact that they generate a network of health services that they make available to the patient free of charge. These differences may also be attributable to cultural issues and to the fact that Mexico has a deeply established culture of support.

Genetic literacy and psychological adaptation in adolescents with genetic diseases / [Alfabetización genética y adaptación psicológica en adolescentes con enfermedades genéticas]

Introduction: Living with a genetic condition is complex and may be limiting for the adolescent. This situation is considered a stress factor and risk factor for the mental health of both the patient and his family. Objective: To study the levels of psychological adaptation and genetic literacy in adolescents with genetic diseases residing in Argentina. Methods: Correlational and quantitative design and cross sectional scope. The protocol consisted of an informed consent, a sociodemographic data questionnaire, and the Genetic Health Literacy Screening Tool (REAL G) and Psychological Adaptation Scale (PAS) instruments. The sampling was intentional and composed by 68 cases. Results: The REAL G indicated low levels of genetic literacy in all its components (decoding, familiarity, comprehension, arithmetic). Regarding psychological adaptation, an M = 4.02 (SD = 0.8) was found for the general scale and high scores for all the dimensions. Conclusion: Adolescents diagnosed with genetic diseases in Argentina have a good level of psychological adaptation to their disease, despite having low levels of genetic literacy.

Introducción: La convivencia con una condición genética es compleja y puede resultar limitante para el adolescente. Esta situación constituye un estresor y un factor de riesgo para la salud mental tanto del paciente como de su familia. Objetivo: Estudiar los niveles de adaptación psicológica y alfabetización genética en adolescentes con enfermedades genéticas, residentes en Argentina. Métodos: Alcance descriptivo correlacional, de diseño cuantitativo y corte transversal. El protocolo administrado consistió en un consentimiento informado, un cuestionario de datos socio-demográficos, y los instrumentos Genetic Health Literacy Screening Tool (REAL G) y  Psychological Adaptation Scale (PAS). El muestreo fue intencional y la muestra fue de 68 casos. Resultados: El REAL G indicó bajos niveles de de alfabetización genética en todos sus componentes (decodificación, familiaridad, comprensión, aritmética). En cuanto a la adaptación psicológica, se encontró una M=4,02 (DE= 0.8) para la escala general y puntuaciones elevadas para todas las dimensiones. Conclusión: Los adolescentes diagnosticados con enfermedades genéticas en Argentina poseen un buen nivel de adaptación psicológica a su enfermedad, a pesar de tener bajos niveles de alfabetización genética.

Problemas de Salud Mental en Niños con Fisura Labiopalatina / Mental Health Problems in Children with a Lip-Palatal Fissure

Los niños que padecen enfermedades genéticas son una población vulnerable para desarrollar problemas de salud mental. Una de las anomalías congénitas más frecuentes es la fisura labiopalatina (FLAP). Objetivo: Estudiar el impacto a nivel familiar del diagnóstico de FLAP. Metodología: Alcance exploratorio, de diseño cuantitativo y corte transversal. Se construyó un cuestionario autoadministrado compuesto por un consentimiento informado, un cuestionario de datos sociodemográficos, el Child Behavior CheckList y preguntas abiertas. El muestreo fue intencional y la muestra fue de 42 casos. Resultados: El diagnóstico de una fisura labio palatina es una experiencia difícil en los padres, quienes viven este momento de manera negativa, con tristeza y miedo. Sin embargo, los niños pequeños con FLAP presentan niveles de salud mental similares a la población general.

Children with genetic diseases are a vulnerable population in the development of mental health problems. The cleft lip and palate (FLAP) is one of the most common congenital anomalies. Objective: To study the impact at family level of the FLAP diagnosis. Methodology: Exploratory and quantitative design and cross-sectional scope. A self-administered questionnaire consisting of an informed consent, a sociodemographic data questionnaire, the Child Behavior CheckList and open questions, was constructed. The sampling was intentional and composed by 42 cases. Results: The diagnosis of a cleft palatal lip is a difficult experience in parents, who experience this moment in a negative way, with sadness and fear. Nevertheless, children with FLAP present similar levels of mental health with general populatio.

[Cleft Lip/Palate diagnosis in early childhood of Nicaragua: impact of the diagnosis on a family level.] / Diagnóstico de fisura labio palatina en niños pequeños de Nicaragua: impacto del diagnóstico a nivel familiar.

Introduction: Children with congenital anomalies are a vulnerable population in the development of mental health problems. The cleft lip and palate (FLAP) is a structural congenital anomaly. Objective: To study the impact at family level of the FLAP diagnosis. Methodology: Descriptive and quantitative design and cross-sectional scope. A self-administered questionnaire consisting of an informed consent, a sociodemographic data questionnaire, the Child Behavior Checklist and open questions, was constructed. The sampling was intentional and composed by 50 cases. Results: The CBCL 1.5-5 indicated an average of M = 53.60 (SD 23.53) in the general scale of behavioral and emotional problems, M = 14.86 for the internalizing scale, and M = 19.04 for the externalizing scale. Conclusions: The diagnosis of a cleft palatal lip is a difficult experience in parents, who experience this moment in a negative way, with sadness and fear. Preschool children with a diagnosis of cleft lip and palate are a population at risk of developing psychopathological disorders, mainly of the externalizing type.

Introducción: Los niños que padecen enfermedades genéticas son una población vulnerable para desarrollar problemas de salud mental. La fisura labiopalatina (FLAP) es una anomalía congénita de tipo estructural. Objetivo: Estudiar el impacto a nivel familiar del diagnóstico de FLAP. Métodos: Alcance descriptivo, de diseño mixto y corte transversal. Se construyó un cuestionario autoadministrado compuesto por un consentimiento informado, un cuestionario de datos sociodemográficos, el Child Behavior Checklist y preguntas abiertas. El muestreo fue intencional y la muestra fue de 50 casos. Resultados: El CBCL 1.5-5 indicó una media de M=53.60 (DE 23,53) en la escala general de problemas comportamentales y emocionales, M=14,86 para la escala internalizante, y de M=19.04 para la externalizante. Conclusión: El diagnóstico de una fisura labio palatina es una experiencia difícil en los padres, quienes viven este momento de manera negativa, con tristeza y miedo. Los niños en edad preescolar con diagnóstico de fisura labiopalatina son una población en riesgo de desarrollar trastornos psicopatológicos, mayormente de tipo externalizantes.