Evidence map›Paper›PMID 39073239›Full record

ArticleAmerican journal of medical genetics. Part A2024

Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort.

Michael Boechler, Yi-Ping Fu, Neelam Raja, Emily Ruiz-Escobar, Likitha Nimmagadda, Sharon Osgood, Mark D Levin, Colleen Hadigan, Beth A Kozel

Abstract read
In one paragraph

Article in American journal of medical genetics. Part A, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review.Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland · 2026
    Article
  3. Article
  4. 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.

Michael BoechlerDepartment of Pediatrics, Walter Reed Army Medical Center, Bethesda, Maryland, USA.
Yi-Ping FuOffice of Biostatistics Research, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.
Neelam RajaTranslational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.
Emily Ruiz-EscobarTranslational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.
Likitha NimmagaddaTranslational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.
Sharon OsgoodOffice of the Clinical Director, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.
Mark D LevinTranslational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.
Colleen HadiganNational Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Beth A KozelTranslational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, USA.ORCID 0000-0002-9757-7118

Funding

Williams syndrome: A Translational Approach to Mechanism and TreatmentZIAHL006210 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI KOZEL, BETH · 2016 to 2024
$10.4M
Modifiers of elastin arteriopathyZIAHL006212 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI KOZEL, BETH · 2016 to 2024
$9.7M
Clinical Center of the National Institutes of HealthDivision of Intramural Research for the National Heart, Lung, and Blood InstituteIntramural NIH HHS Z99 HL999999Intramural NIH HHS ZIA HL006210Intramural NIH HHS ZIA HL006212National Institute of Allergy and Infectious Disease
6 · The paper itself

Abstract

Williams syndrome (WS) is a multi-system condition caused by the deletion of 25-27 coding genes on human chromosome 7. Irritability, gastrointestinal (GI) reflux and slow growth are commonly reported in infants with WS, but less data exist regarding GI concerns in older children and adults with the condition. This study evaluates 62 individuals with WS (31 children aged 3-17, and 31 adults aged 18-62) as well as 36 pediatric and adult controls to assess current and historical rates of common GI symptoms. Data were evaluated using a regression model including age, sex, self-reported race, and diagnosis. Symptoms including food intolerance, reflux, dysphagia, choking/gagging, vomiting, constipation, bloating, diarrhea, hematochezia, rectal prolapse, abdominal pain, and weight loss are more common in those with WS relative to controls. In addition, people with WS utilize more GI medications, specialty care, procedures, and supplemental feeds. Among those with WS, symptoms were present at similar rates in children and adults, except for diverticular disease, which was not noted until adulthood. GI symptoms are frequent in people with WS and serve as a significant source of morbidity.

Indexed as

Gastrointestinal DiseasesWilliams SyndromeAdolescentAdultCase-Control StudiesChildChild, PreschoolFemaleHumansMaleMiddle AgedProspective StudiesYoung Adultceliac diseasediverticular diseasegastrointestinal symptomshealthcare utilizationWilliams Beuren syndrome

Identifiers

PMID39073239
PMCPMC11540717

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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 Socratic graph.