Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital

Tejada-Ortigosa, Eva María; Flores-Rojas, Katherine; Moreno-Quintana, Laura; Muñoz-Villanueva, María Carmen; Pérez-Navero, Juan Luís; Gil‐Campos, Mercedes

doi:10.1016/j.anpede.2018.03.005

Cited by 11 publications

(8 citation statements)

References 33 publications

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“…The findings of the present study are consistent with those of Almási, et al, (2019) study, which was entitled "Systematic Literature Review and Meta-Analysis on The Epidemiology of Methylmalonic Acidemia (MMA) with a Focus on MMA Caused by Methylmalonyl-CoA Mutase (Mut) Deficiency" and revealed that two-thirds of the children were female. These findings differ from those of Tejada-Ortigosa, et al (2019), who conducted a study on the "Health and Socio-Educational Needs of The Families and Children with Rare Metabolic Diseases" and discovered that about threequarters of the participating children had one or more rare metabolic diseases.…”

Section: Discussioncontrasting

confidence: 97%

“…These results are in line with those of Ramadan et al (2020), who found that more than two-thirds of mothers reported using insufficient procedures overall to care for their children who had MMA. Additionally, this outcome was consistent with a study by Tejada-Ortigosa, et al (2019), which found that the majority of the analyzed moms had poor habits. The outcomes demonstrated the value of the approach in enhancing mothers' habits and knowledge when caring for kids with methylmalonic acidemia.…”

Section: Discussionsupporting

confidence: 92%

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Effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic acidemia

Mahmoud

Amin

Ayed

2021

ijhs

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Methylmalonic Acidemia (MMA) is a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methyl malonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. Aim: To investigate the effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic academia. Design: A quasi-experimental design was used to achieve the aim of this study. Setting: This study was conducted at the Specialized Genetic Outpatient Clinic at Sohag University Hospital. Subject: A purposive sample of 50 mothers and their children with methylmalonic academia was selected from the previously selected settings. Three tools were used: (1) a structured interviewing questionnaire, (2) Mothers’ knowledge regarding methylmalonic academia, and (3) Mothers’ Reported Practices format regarding methylmalonic academia. Results: The current study results revealed that two-quarters of the mothers had unsatisfactory knowledge about methylmalonic acidemia pre-instructional guidelines implementation compared with the majority of them reported satisfactory total knowledge post-instructional guidelines implementation; As well, mothers' total reported practices were significantly improved post-instructional guidelines implementation.

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Section: Discussioncontrasting

confidence: 97%

Section: Discussionsupporting

confidence: 92%

Effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic acidemia

Mahmoud

Amin

Ayed

2021

ijhs

View full text Add to dashboard Cite

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“…This profile coincides with previous research on caregivers with children with rare and/or chronic diseases (32,(52)(53)(54)(55)(56)(57). For example, in the last two US and European reports on caregivers of people with RDs [52,57], data similar to that obtained in our study is shown.…”

Section: Sociodemographic and Psychosocial Profile Of Caregiverssupporting

confidence: 90%

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

Berrocoso

Amayra

Lázaro

et al. 2019

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.

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“…Brown et al [ 66 ], for instance, compared the QoL of three types of families: families with a child with Down syndrome, families with a child with autism spectrum disorders, and families with none of their members having a disability. The other five articles focus on specific disabilities, namely deafness [ 48 ], intellectual disability [ 32 , 67 ], autism [ 37 ] and rare metabolic diseases [ 68 ]. Two articles adopt an ethnic perspective.…”

Section: Resultsmentioning

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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Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital

Cited by 11 publications

References 33 publications

Effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic acidemia

Effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic acidemia

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

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

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