Evidence map›Paper›PMID 39126536›Full record

ArticleJournal of community genetics2024

"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia.

Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette

Abstract read
In one paragraph

Article in Journal of community genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Hsiao H TsaiNorthwestern University, 645 N Michigan Ave Suite 630, Chicago, IL, 60611, USA.
Jennifer L Young *Northwestern University, 645 N Michigan Ave Suite 630, Chicago, IL, 60611, USA. jennifer.young1@northwestern.edu.
Sara Cherny *Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL, 60611, USA.
Cat Davis AhmedThe Family Heart Foundation, Fernandina Beach, USA.
Sadiya S KhanNorthwestern Medicine, 676 N Saint Clair, Chicago, IL, 60611, USA.
Debra DuquetteNorthwestern University, 645 N Michigan Ave Suite 630, Chicago, IL, 60611, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.

Indexed as

ChildrenFamilial hypercholesterolemia (FH)ParentsQualitative researchUniversal lipid screening (ULS)

Identifiers

PMID39126536
PMCPMC11549273

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.