Mucopolysaccharidosis

Guarany, Nicole Ruas; Vanz, Ana Paula; Wilke, Matheus Vernet Machado Bressan; Bender, Daniele Dorneles; Borges, Mariana Dumer; Giugliani, Roberto; Schwartz, Ida Vanessa Döederlein

doi:10.1177/2326409815613804

Cited by 14 publications

(15 citation statements)

References 45 publications

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“…The impact on caregivers divided into two aspects remains an objective overload, which is due to the effort involved in the performance of care tasks, with the economic demands and social restrictions derived from them; and the subjective one, which refers to the dimension of the feelings and emotions caused by the care work. 6,16,21,17,3 The woman stands out as a primary caregiver being the most prevalent female sex in the country (96.4%), which correlates with the literature 2 since women are the most dedicated to the work of caring for patients with lysosomal storage disorders such as MPS, rare, chronic or debilitating diseases. These female caregivers are characterized by belonging to a low socioeconomic stratum (79%), just 38,5% finished secondary and 15,6% being professionals located in rural areas (68.5%) 19 with ages between 30 and 49 years.…”

Section: Discussionsupporting

confidence: 56%

“…The study primary aim was to explore the psychosocial vulnerability of a group of family caregivers of patients with MPS and to identify coping strategies for caregivers of patients with MPS and their families. As regards the most common type of MPS in Colombia, the results show Morquio Syndrome (n=75) according to the literature 7,8,9,3,19 and the least common type Sanfilippo Syndrome (n=8). The impact on caregivers divided into two aspects remains an objective overload, which is due to the effort involved in the performance of care tasks, with the economic demands and social restrictions derived from them; and the subjective one, which refers to the dimension of the feelings and emotions caused by the care work.…”

Section: Discussionmentioning

confidence: 83%

“…However, in all three studies, aspects of psychosocial vulnerability or demographic characteristics that may affect the QoL of these women are not considered. In the evaluation of the QoL of caregivers of patients with MPS-VI, low quality of life scores was identified in all domains 3 finding also related to the characteristic phenotype of the disease, which means that mothers should provide more attention and support for activities of daily living. However, the authors report that in this study it was not possible to confirm this hypothesis, due to the study sample included only 1 caregiver of a child with MPS-VI.…”

Section: Research Article Open Accessmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 83%

Section: Research Article Open Accessmentioning

confidence: 99%

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Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

Journal¹

2020

MNJ

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“…QoL is described as a subjective and multidimensional process [20,21] and it has become a focus of research in recent decades. It has been included in studies of rare diseases (RDs) [22][23][24][25][26][27] and chronic diseases [28][29][30][31][32] involving both patients and caregivers. In all these cases the child's condition negatively affected the parents's QoL to a greater or lesser extent.…”

Section: Introductionmentioning

confidence: 99%

Coping with Wolf-Hirschhorn Syndrome: quality of life and psychosocial features of family carers

Berrocoso

Amayra

Lázaro

et al. 2020

Preprint

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Background : Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being. Results: The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents' QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support. Conclusions: WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers’ well-being and QoL by strengthening their social support network and using positive coping styles. Keywords: Wolf-Hirschhorn syndrome; 4p deletion; caregivers; quality of life; coping; depression; social support; spirituality.

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“…It has become a focus of research in recent decades in clinical trial studies, cost-utility analysis, evaluating the state of the general and clinical population, and as a variable of outcome/effectiveness of interventions involving both patients and caregivers. Its inclusion in studies of rare diseases such as genetic, metabolic and neuromuscular diseases should be noted [21][22][23][24][25][26], and in other chronic diseases such as epilepsy, respiratory disorders and cerebral palsy [27][28][29][30][31]. In all these cases, the child's condition negatively affected the parents' QoL to a greater or lesser extent.…”

Section: Introductionmentioning

confidence: 99%

Coping with Wolf-Hirschhorn Syndrome: quality of life and psychosocial features of family carers

Berrocoso

Amayra

Lázaro

et al. 2019

Preprint

View full text Add to dashboard Cite

Background: Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being. Results: The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents' QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support. Conclusions: WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers’ well-being and QoL by strengthening their social support network and using positive coping styles.

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Mucopolysaccharidosis

Cited by 14 publications

References 45 publications

Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

Coping with Wolf-Hirschhorn Syndrome: quality of life and psychosocial features of family carers

Coping with Wolf-Hirschhorn Syndrome: quality of life and psychosocial features of family carers

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