Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

Ru, Minke H. de; Bouwman, Machtelt G.; Wijburg, Frits A.; Zwieten, Myra C.B. van

doi:10.1016/j.ymgme.2012.08.008

Cited by 36 publications

(31 citation statements)

References 39 publications

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“…While we did not collect socioeconomic data for our study sample, the parents we interviewed may have been relatively socioeconomically advantaged, which may have afforded them greater resources and capacity to participate in advocacy activities. Supporting this possibility, a common parent-reported theme in the literature but not in our study is financial stress [6, 7, 21, 30, 31]. …”

Section: Discussionsupporting

confidence: 56%

“…As well, other studies have identified diagnostic delays as a source of stress for families with IMD. Since the vast majority of children of our study participants were diagnosed through newborn screening, we had insufficient data to reflect upon this particular challenge, which deserves further study in future research involving children with rare diseases not identified within the first few weeks of life [30]. Furthermore, although we completed interviews with 58% (21/36) of families who were invited to participate in the study, those who did not participate may have been experiencing more challenges in coping, and thus were unable to devote time to participating in an hour-long telephone interview.…”

Section: Discussionmentioning

confidence: 99%

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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Siddiq

Wilson

Graham

et al. 2016

Orphanet J Rare Dis

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Background: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system. Methods: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study. Participants were selected with the aim of achieving a diverse sample with respect to treatment centre, IMD, and age of the child. Interviews emphasized the impacts of the disease and its treatment on the child and family and explicitly queried perceptions of interactions with the health care system. We identified emergent themes from the interview data. Results: We completed interviews with 21 parents/caregivers. The 21 children were aged <1 to 7 years old with IMD that included amino acid disorders, urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders or 'other' IMD. Most parents reported that they and their families had adapted well to their child's diagnosis. Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. An important source of stress was concern about the social challenges faced by their children. Participants reported positive interactions with their most involved health care providers within the metabolic clinic. However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child's disease. Conclusions: The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study. Parents' social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Siddiq

Wilson

Graham

et al. 2016

Orphanet J Rare Dis

View full text Add to dashboard Cite

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“…Certainly the ethical considerations surrounding genetic testing for a disease for which there is no currently approved therapy should be discussed with the family before testing is undertaken. These issues have been reviewed at length elsewhere, particularly in regard to the identification of presymptomatic patients if newborn screening were to become a reality (43,44).…”

Section: Genetic Testingmentioning

confidence: 99%

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

et al. 2013

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Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments.Conclusion: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.

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“…De Ru et al (2012) interviewed Dutch MPSI patients on the potential impact of earlier diagnosis. Subjects reported having felt misunderstood due to their delayed diagnosis and frequent misdiagnosis.…”

Section: Introductionmentioning

confidence: 99%

Newborn screening for Pompe disease: impact on families

Pruniski

Lisi

Ali

2018

J of Inher Metab Disea

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Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience. The present study examines the effects of receiving a positive NBS result for PD on families. In-depth qualitative interviews were conducted with mothers of nine children (three IOPD and six LOPD) diagnosed via NBS, exploring their experiences, understanding of PD, how they are coping, and what impact diagnosis is having on family life. Interviews were coded using MaxQDA v.12 and analyzed for thematic trends. While overall opinion of NBS was favorable, it is clear many of the concerns anticipated by HCPs, patients, and families regarding NBS for late-onset LSDs are being realized to varying degrees; LOPD families are becoming patients-in-waiting. Increased fear/anxiety and living with uncertainty (regarding diagnosis, their children's future, and when to start treatment) were predominant themes, with all families voicing considerable emotional reactions and varied social and healthcare support concerns. Coping strategies and psychosocial challenges are interpreted using Rolland & Williams' Family Systems Genetic Illness model. Recommendations for improvement in delivery of service, as well as families' advice for future parents and HCPs, are discussed.

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Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

Cited by 36 publications

References 39 publications

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Newborn screening for Pompe disease: impact on families

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