Evidence map›Paper›PMID 40115723›Full record

ArticleCureus2025

Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong.

Chloe M Mak, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Chun Yiu Law, Chun Hei Toby Chan, Chun Wing Yeung, Shirley Pang, Edgar Hau, Sophelia Hoi Shan Chan

Abstract read
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Chloe M MakDepartment of Pathology, Newborn Screening Laboratory, Hong Kong Children's Hospital, Hong Kong, CHN.
Jacky Kwan Ho LeeDepartment of Pathology, Newborn Screening Laboratory, Hong Kong Children's Hospital, Hong Kong, CHN.
Jimmy Chi Lap WongDepartment of Pathology, Newborn Screening Laboratory, Hong Kong Children's Hospital, Hong Kong, CHN.
Chun Yiu LawDepartment of Pathology, Newborn Screening Laboratory, Hong Kong Children's Hospital, Hong Kong, CHN.
Chun Hei Toby ChanDepartment of Pathology, Newborn Screening Laboratory, Hong Kong Children's Hospital, Hong Kong, CHN.
Chun Wing YeungDepartment of Pathology, Newborn Screening Laboratory, Hong Kong Children's Hospital, Hong Kong, CHN.
Shirley PangDepartment of Medicine, Queen Mary Hospital, Hong Kong, CHN.
Edgar HauDepartment of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong, CHN.
Sophelia Hoi Shan ChanDepartment of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, CHN.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimSpinal muscular atrophy (SMA) is an inherited neuromuscular disease. Although drugs are now available to treat patients with SMA, newborn screening (NBS) is essential for the early identification and treatment of affected babies. However, the attitudes towards NBS for SMA, particularly the adult-onset type, vary among different stakeholders. While supporters advocate for NBS due to early diagnosis and intervention, skeptics argue that the uncertainty about the severity and disease onset age can cause unnecessary parental and patient anxieties. This study aimed to explore the knowledge, attitudes, and perspectives of the general public and healthcare professionals regarding NBS for SMA in Hong Kong.

methodsA prospective online quantitative questionnaire survey was conducted on the general public, healthcare professionals, and the SMA community aged 18 years or above between December 2022 and February 2023. Participants were asked 28 questions about their knowledge of SMA, views on implementing NBS, concerns about the possibility of detecting adult-onset SMA, and the time of treatment. Descriptive analysis by Microsoft Excel (Redmond, WA: Microsoft Corp.) was employed to determine the absolute frequencies and percentages of interviewees' responses to each question of the questionnaire.

resultsWe received a total of 223 responses, of which 165 (74%) were from the general public and 58 (26%) from healthcare professionals. The majority, 94.6%, were in favor of NBS for SMA, primarily due to the potential for immediate treatment for affected infants (90.5%, n=191). When considering the possibility that NBS results could indicate adult-onset SMA, 87.9% (n=196) expressed a desire to know their child's results and 80.7% (n=180) were comfortable with their parents being informed of their NBS findings.

conclusionsBoth the general public and healthcare professionals expressed support for the implementation of NBS for SMA in Hong Kong, believing that early diagnosis and intervention can improve the quality of life of SMA patients. Proper public health education is crucial to help individuals make informed decisions about NBS for SMA.

Indexed as

adult-onset smagene therapynewborn screeningparental attitude surveysmn1smn2spinal muscular atrophy

Identifiers

PMID40115723
PMCPMC11923255

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Registered trials

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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.