Newborn screening for Pompe disease: impact on families

Pruniski, Brianna; Lisi, Emily C.; Ali, Nadia

doi:10.1007/s10545-018-0159-2

Cited by 29 publications

(45 citation statements)

References 29 publications

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“…High stress and anxiety at initial phone call were reported by nearly all participants in this study. These results are consistent with studies looking at the parental NBS experience for other diseases, such as Pompe disease (PD) and cystic fibrosis [9,10]. Given the myriad of negative emotions experienced by parents upon learning their child's positive screening results, HCPs who work with these families should be aware of the factors that contribute to a positive, informative, and supportive NBS experience, in the context of a potentially devastating diagnosis.…”

Section: Educating Healthcare Providers On Aldsupporting

confidence: 82%

“…Given the myriad of negative emotions experienced by parents upon learning their child's positive screening results, HCPs who work with these families should be aware of the factors that contribute to a positive, informative, and supportive NBS experience, in the context of a potentially devastating diagnosis. This sentiment is shared by parents of children who received positive NBS results for PD, as studied by Pruniski et al [9]. As with ALD, the parents of these children felt that the HCP making the initial disclosure was not fully informed on PD.…”

Section: Educating Healthcare Providers On Aldmentioning

confidence: 99%

“…As with ALD, the parents of these children felt that the HCP making the initial disclosure was not fully informed on PD. These families also emphasized education on the disease as an important recommendation for both HCPs and parents [9]. For ALD, emphasizing currently available treatment and possible future treatment may be beneficial, as well as pointing out that newborns identified on NBS are not at any immediate risk for health issues.…”

Section: Educating Healthcare Providers On Aldmentioning

confidence: 99%

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Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

Schwan

Youngblom

Weisiger

et al. 2019

IJNS

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X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene, resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated adrenal insufficiency and slowly progressive myelopathy to severe cerebral demyelination. Females who are heterozygous for ALD typically develop milder symptoms by late adulthood. Treatment for adrenal insufficiency associated with ALD exists in the form of cortisol, and cerebral ALD may be treated with stem cell transplantation. Currently, there is no treatment for myelopathy. Since 2013, at least 14 states have added ALD to their newborn screening (NBS) panel, including California in 2016. We examined the impact of a positive NBS result for ALD on families in California. Qualitative interviews were conducted with mothers of 10 children who were identified via NBS for ALD. Interviews were transcribed verbatim and analyzed using thematic analysis by two coders. Mothers felt strongly that ALD should be included on California’s NBS panel; however, many expressed concerns over their experience. Themes included stress at initial phone call, difficulty living with uncertainty, concerns regarding mental health support, and desire for more information on disease progression, treatments and clinical trials. Mothers exhibited diverse coping strategies, including relying on faith, information seeking, and maintaining hope. Mothers’ recommendations for healthcare providers included: educating providers making the initial phone call, providing patient-friendly resources, offering information about ongoing research, and streamlining care coordination. Advice for parents of children with ALD focused on staying hopeful and appreciating the time they have with their children. As more states add ALD to their NBS panel, it is important to improve the current model to promote family resiliency and autonomy.

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Section: Educating Healthcare Providers On Aldsupporting

confidence: 82%

Section: Educating Healthcare Providers On Aldmentioning

confidence: 99%

Section: Educating Healthcare Providers On Aldmentioning

confidence: 99%

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Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

Schwan

Youngblom

Weisiger

et al. 2019

IJNS

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“…Finally, after confirmation of LOPD, uncertainty exists for parents and specialty caregivers as there is currently no established management guideline for presymptomatically-identified LOPD infants. Our family's experience mirrors closely those of other families receiving Pompe disease NBS results [21]. As additional LOPD cases are identified and followed longitudinally with existing NBS-identified LOPD cases, a clearer natural history, prognosis, and recommendations for timing of treatment initiation will arise.…”

Section: Discussionmentioning

confidence: 53%

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

Wang

2020

IJNS

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Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage. Clinical symptoms vary from the severe, infantile-onset form with hypertrophic cardiomyopathy, gross motor delay, and early death from respiratory insufficiency; to a late-onset form with variable onset of proximal muscle weakness and progressive respiratory insufficiency. Newborn screening programs have been instituted to presymptomatically identify neonates with infantile-onset Pompe disease for early initiation of treatment. However, infants with late-onset Pompe disease are also identified, leaving families and physicians in a state of uncertainty regarding prognosis, necessity, and timing of treatment initiation. This report presents a 31 5/7 weeks’ gestational age premature infant flagged positive for Pompe disease with low dried blood spot GAA activity; sequencing identified biparental c.-32-13T>G/c.29delA GAA variants predicting late-onset Pompe disease. The infant’s parents’ initial reactions to the positive newborn screen, subsequent experience during confirmatory testing, and post-confirmation reflections are also reported. While uncertainties regarding natural history and prognosis of presymptomatically-identified late-onset Pompe disease infants will be elucidated with additional experience, suggestions for education of first-line providers are provided to accurately communicate results and compassionately counsel families regarding anxiety-provoking positive newborn screen results.

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“…In a study that examined the effects of positive newborn screening results on families; it was reported that uncertainty caused anxiety, and while the uncertainty was increasing, families' anxiety was also increasing (42). Parental anxiety increases as the risk and unknownness of the procedure is increased.…”

Section: Discussionmentioning

confidence: 99%

Maternal Anxiety Associated with Newborn Screening

Alan

Alpar

2020

Clinical and Experimental Health Sciences

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Objective: In this study, it was aimed to determine the anxiety levels of mothers associated with newborn hearing screening test and heel prick blood sampling. Methods: A randomized controlled trial of 112 mothers who applied for newborn screening in a public hospital were conducted. The mothers were divided into two groups depending on their baby's assigned group; hearing screening test group (HST group) or heel prick blood sampling group (HBS group). The study was completed with a total of 101 participants. Parental Information Form, Subjective Units of Distress Scale (SUDS), State-Trait Anxiety Inventory (STAI-S, STAI-T) were used in data collection. Data analysis were performed by using descriptive statistics, Mann-Whitney U test, Kruskal Wallis test, Independent groups t test, Pearson and Spearman correlation. Results: In the HST and HBS groups, the score median of the SUDS was 5,0 (IQR: 4,0-7,0) and 5,0 (IQR: 4,0-7,0), the score average of the STAI-S was 39,8±6,7 and 41,3±7,6, and the score average of the STAI-T was 42,5±7,1 and 41,4±6,5, respectively. There were significant relationships between the mothers' scores of the SUDS, STAI-S and STAI-T. Conclusion: The mothers' anxiety associated with hearing screening test and heel prick blood sampling were higher than Spielberger's female population. There was no difference between the anxiety of the mothers according to whether the screening test is interventional. In order to avoid problems associated with parental anxiety, it may be advisable to investigate appropriate methods to reduce the anxiety of mothers.

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Newborn screening for Pompe disease: impact on families

Cited by 29 publications

References 29 publications

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

Maternal Anxiety Associated with Newborn Screening

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