Evidence map›Paper›PMID 36052644›Full record

ArticleJournal of intellectual disability research : JIDR2022

Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.

G Leader, S Whelan, N N Chonaill, R Coyne, M Tones, H Heussler, M Bellgard, A Mannion

Registry-linked trialOpen access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of intellectual disability research : JIDR, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05293184 (The Global Angelman Syndrome Registry), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
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.

NCT05293184 recruitingnot on this map

The Global Angelman Syndrome Registry

Typeobservational_patient_registrySponsorFoundation for Angelman Syndrome Therapeutics, AustraliaRan2016 to 2099Enrolled5,000ConditionsAngelman SyndromeArmsObservational study only
3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Observational
  2. Article
  3. Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).American journal of medical genetics. Part A · 2025
    Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. 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

8 authors at 3 institutions in 2 countries.

G LeaderIrish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.ORCID 0000-0001-8719-0617
S WhelanIrish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.ORCID 0000-0001-9794-6246
N N ChonaillIrish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.
R CoyneIrish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.
M ToneseResearch Office, Queensland University of Technology, Brisbane, Queensland, Australia.
H HeusslerChildren's Health Queensland Hospital and Health Service, Brisbane, Queensland, Australia.
M BellgardeResearch Office, Queensland University of Technology, Brisbane, Queensland, Australia.
A MannionIrish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.
National University of Ireland · IEQueensland University of Technology · AUChildren’s Health Queensland Hospital and Health Service · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAngelman syndrome (AS) is a neurogenetic disorder that causes severe intellectual disability, expressive language deficits, motor impairment, ataxia, sleep problems, epileptic seizures and a happy disposition. People with AS frequently experience gastrointestinal (GI) symptoms.

methodThis study used data from the Global Angelman Syndrome Registry to explore the relationship between early and current GI symptoms and co-morbidity in children and adolescents with AS (n = 173). Two groups that experienced a high (n = 91) and a low (n = 82) frequency of GI symptoms were examined in relation to feeding and GI history in infancy, sleep and toileting problems, levels of language and communication and challenging behaviours. Predictors of GI symptoms were then investigated using a series of logistic regressions.

resultsThis analysis found that constipation and gastroesophageal reflux affected 84% and 64%, of the sample, respectively. The high frequency of GI symptoms were significantly associated with: 'refusal to nurse', 'vomiting', 'arching', 'difficulty gaining weight', gastroesophageal reflux, 'solid food transition', frequency of night-time urinary continence and sleep hyperhidrosis during infancy. GI symptoms were not significantly associated with sleep, toileting, language or challenging behaviours. Significant predictors of high frequency GI symptoms were gastroesophageal reflux and sleep hyperhidrosis.

conclusionsFuture research needs to investigate the association between AS and GI co-morbidity in adults with AS.

Indexed as

Angelman SyndromeGastroesophageal RefluxGastrointestinal DiseasesHyperhidrosisAdolescentAdultChildHumansMorbidityAngelman syndromeco-morbiditygastrointestinal symptomsGlobal Angelman Syndrome Registry

Identifiers

PMID36052644
PMCPMC9826167
OpenAlexW4294225613

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.