Evidence map›Paper›PMID 40891560›Full record

ArticleJournal of intellectual disability research : JIDR2025

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Catherine Merton, Angela Gwaltney, Anna Booman, Sarah Nelson Potter, Anne C Wheeler, Rene L Barbieri-Welge, Lucia T Horowitz, Rachel J Hundley, Lynne M Bird, Wen-Hann Tan and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of intellectual disability research : JIDR, 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

5 · Who and what money

Authors and funding

11 authors.

Catherine MertonDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-1702-3132
Angela GwaltneyRTI International, Research Triangle Park, North Carolina, USA.
Anna BoomanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Sarah Nelson PotterRTI International, Research Triangle Park, North Carolina, USA.
Anne C WheelerRTI International, Research Triangle Park, North Carolina, USA.
Rene L Barbieri-WelgeDevelopmental Evaluation Clinic, Rady Children's Hospital san Diego, San Diego, California, USA.
Lucia T HorowitzGreenwood Genetic Center, Greenwood, South Carolina, USA.
Rachel J HundleyDivision of Developmental Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Lynne M BirdDepartment of Pediatrics and Rady Children's Hospital San Diego Genetics/Dysmorphology, University of California, San Diego, San Diego, California, USA.ORCID 0000-0003-4833-3747
Wen-Hann TanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-1593-6149
Anjali SadhwaniDepartment of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts, USA.

Funding

Training and Career Development ComponentU54HD061222 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI PERCY, ALAN KENNETH · 2009 to 2019
$12.4M
RARE DISEASE CRC FOR NEW THERAPIES AND NEW DIAGNOSTICSU54RR019478 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 2003 to 2008
$7.3M
National Center for Research Resources (NCRR) NIHU54RR019478National Institute of Child Health and Human Development (NICHD) NIHU54HD061222NCRR NIH HHS U54 RR019478NICHD NIH HHS U54 HD061222
6 · The paper itself

Abstract

backgroundAngelman syndrome (AS) is a developmental disorder caused by one of four molecular aetiologies. Affected individuals have intellectual disability (ID), limited speech, seizures and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs. We examined parental stress and family quality of life (FQOL) over time in families of individuals living with AS.

methodsData were collected in a natural history study of AS. The Parenting Stress Index, Third Edition (PSI) and the Beach Center FQOL Scale assessed parental stress and FQOL. Stress and FQOL were examined across AS molecular subtypes, and predictors were analysed using a generalised linear model. Relationships between parental stress and FQOL were examined using Pearson correlations and a stepwise mixed-linear model approach.

resultsOur sample consisted of 231 families of individuals living with AS. Parental stress was clinically elevated and was highest in families of individuals with UBE3A pathogenic variants, whereas FQOL did not differ across subtypes in most domains. Increasing age predicted a decrease in parental stress but did not predict FQOL. Elevated parental stress was additionally predicted by maladaptive behaviours and child male sex, whereas lower FQOL was predicted by child male sex, parent marital status and family income. Parental stress had a small negative impact on FQOL.

conclusionsStress is elevated in parents of individuals with AS across subtypes and has a negative impact on FQOL. Interventions to reduce stress have the potential to improve individual and family well-being.

Indexed as

Angelman SyndromeFamilyParentsQuality of LifeStress, PsychologicalAdolescentAdultChildChild, PreschoolFemaleHumansMaleMiddle AgedYoung Adultdevelopmental disabilitiesfamily interactionparental stresspsychosocial stress

Identifiers

PMID40891560
PMCPMC12455052

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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.