Calidad de vida familiar en pacientes con síndrome de Morquio tipo IV-A. Una mirada desde el contexto colombiano (Suramérica)

Ortiz-Quiroga, Diana Marcela; Ariza-Araujo, Yoseth; Pachajoa, Harry

doi:10.1016/j.rh.2018.07.002

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…This definition includes the perceptions of family members, and for this reason some authors call it "subjective conceptualization" [32,33]. The influence of this conceptualization in the FQoL literature is relevant [34][35][36][37].…”

Section: Theoretical Conceptualizationmentioning

confidence: 99%

State of the Art of Family Quality of Life in Early Care and Disability: A Systematic Review

Mora

Ibáñez

Balcells‐Balcells

2020

IJERPH

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Background: In recent years, there has been a growing international interest in family quality of life The objective of this systematic review is to understand and analyze the conceptualization of the quality of life of families with children with disabilities between 0 and 6 years of age, the instruments for their measurement and the most relevant research results. Method: A bibliographic search was conducted in the Web of Science, Scopus and Eric databases of studies published in English and Spanish from 2000 to July 2019 focused on “family quality of life” or “quality of family life” in the disability field. A total of 63 studies were selected from a total of 1119 and analyzed for their theoretical and applied contributions to the field of early care. Results: The functional conceptualization of family quality of life predominates in this area, and a nascent and enriching holistic conceptualization is appreciated. There are three instruments that measure family quality of life in early care, although none of them is based on unified theory of FQoL; none of them focus exclusively on the age range 0–6 nor do they cover all disabilities. Conclusions: The need to deepen the dynamic interaction of family relationships and to understand the ethical requirement that the methods used to approach family quality of life respect the holistic nature of the research is noted.

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Section: Theoretical Conceptualizationmentioning

confidence: 99%

State of the Art of Family Quality of Life in Early Care and Disability: A Systematic Review

Mora

Ibáñez

Balcells‐Balcells

2020

IJERPH

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“…Coping resources are protective factors for female caregivers, for instance, adequate adherence to treatment by patients and families, their beliefs such as religion and spirituality 28,29 leadership understood as empowerment when you have the adequate knowledge and psychoeducation in the disease. In other words, these factors can allow women caregivers to lead processes of demand for health rights, be the voice of patients with different types of disabilities, help create laws that protect their care work and work hand in hand with associations of patients such as ACOPEL who seek not only physical well-being of the patient 20,3 but psychological, neuropsychological and social, specifically in rare, orphan or low prevalence diseases such as MPS.…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, studies on caregivers mostly incorporate community practice and knowledge to solve problems and provide emotional support, identify psychosocial problems that can be a barrier to achieving optimal health 19 and help address the relationship between diagnosis and environment, but very few studies report what are those factors of vulnerability or psychosocial risk presented by caregivers. Caregivers of people with disabilities or limitations are prone to reduced QoL due to their complete dedication to the patient, understood as the perception about the position of a person in life, in a given context, based on a system of values or beliefs in relation to their goals 20 , standards or expectations of life itself 3 which leads them to neglect their own lives. 21 Patients can be born healthy but the clinical manifestations worsen during the course of the disease 3 and due to the extreme difference in symptom presentation 22 and unpredictability of MPS, it may contribute to increased stress levels in caregivers.…”

Section: Research Article Open Accessmentioning

confidence: 99%

Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

Journal¹

2020

MNJ

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Background: The majority of caregivers are family members and within the symptoms that the caregiver may present, there are manifestations of stress, psychological state of overload, stress or discomfort caused by the continuous provision of care for the family member, feelings and negative perceptions regarding their caring function. Objective: The purpose of this research is to study the psychosocial vulnerability of family caregivers of patients with Mucopolysaccharidoses (MPS). Methods: This study is based on a mixed method with a cross sectional and a descriptive approach. The first stage was quantitative and the second stage was qualitative, both of them to explore the psychosocial vulnerability of a group of family caregivers of patients (n=111) with MPS belonging to the Colombian association of patients with lysosomal storage diseases ACOPEL by its acronym in Spanish. This study collects quantitative data using the patient admission request format from ACOPEL, employed to obtain relevant sociodemographic variables: Gender, Age, Marital status, Education, Occupation, living area, type of housing, live with, socioeconomic stratum, monthly income and time spent as a caregiver. And this study collects qualitative data using a structured interview held to psychologists and healthcare professionals belonging to ACOPEL. Results: The results show that most of them are women, relatives in a relationship or married; most of them belonging to a low socioeconomic stratum and a low professional education. The categories of analysis revealed were the attitude is towards illness, taking account diagnosis and health staff, support networks and psychoeducation. Secondly, the impact of care work on the physical and psychological health of female caregivers. Third, coping resources and finally the double mother role-caregiver and her emotional bond with the patient. Conclusion: In conclusion, the attitude and knowledge towards the disease depend on the diagnosis and the prognosis according to the type of MPS. It is important more research the psychosocial aspects and vulnerability of family caregivers in patients with MPS to develop evidence-based knowledge, psychoeducation, and, appropriate interventions.

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“…As a mucopolysaccharidosis syndrome, the typical alterations of MS involve the supporting tissue and the osteoarticular system 73 . Individuals with MS display abnormalities such as skeletal dysplasia, short stature and trunk, kyphoscoliosis, pectus carinatum, genu valgum, and joint hyperlaxity 74 . Oral diseases often include periodontal disease, malocclusions, caries, and premature tooth loss 46 .…”

Section: Population-specific Facial Traits In Colombian Individuals W...mentioning

confidence: 99%

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Echeverry-Quiceno¹,

Candelo²,

Gómez³

et al. 2023

Sci Rep

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Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ancestry. Here, we assessed the facial phenotypes of Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American population, recording the coordinates of 18 landmarks in 2D images from 79 controls and 51 patients. We quantified facial differences using Euclidean Distance Matrix Analysis, and assessed the diagnostic accuracy of Face2Gene, an automatic deep-learning algorithm. Individuals diagnosed with DS and MS presented severe phenotypes, with 58.2% and 65.4% of significantly different facial traits. The phenotype was milder in NS (47.7%) and non-significant in NF1 (11.4%). Each syndrome presented a characteristic dysmorphology pattern, supporting the diagnostic potential of facial biomarkers. However, population-specific traits were detected in the Colombian population. Diagnostic accuracy was 100% in DS, moderate in NS (66.7%) but lower in comparison to a European population (100%), and below 10% in MS and NF1. Moreover, admixed individuals showed lower facial gestalt similarities. Our results underscore that incorporating populations with Amerindian, African and European ancestry is crucial to improve diagnostic methods of rare disorders.

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Calidad de vida familiar en pacientes con síndrome de Morquio tipo IV-A. Una mirada desde el contexto colombiano (Suramérica)

Cited by 6 publications

References 11 publications

State of the Art of Family Quality of Life in Early Care and Disability: A Systematic Review

State of the Art of Family Quality of Life in Early Care and Disability: A Systematic Review

Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

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