Evidence map›Paper›PMID 41714940›Full record

ArticleJournal of neurodevelopmental disorders2026

Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.

Mindy Leffler, Rebecca J Woods, Amber Sapp, Christina K Zigler, Robert Komorowski, Rebecca Crean, Lynne M Bird, Catherine F Merton, Anna J Booman, Johnna D O'Sullivan and 4 more

Abstract read
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In one paragraph

Article in Journal of neurodevelopmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Mindy LefflerCasimir, LLC, Rockville, MD, USA. mindy_lef@hotmail.com.
Rebecca J WoodsCasimir, LLC, Rockville, MD, USA.
Amber SappCasimir, LLC, Rockville, MD, USA.
Christina K ZiglerDepartment of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.
Robert KomorowskiIonis Pharmaceuticals, Carlsbad, CA, USA.
Rebecca CreanIonis Pharmaceuticals, Carlsbad, CA, USA.
Lynne M BirdUniversity of California, San Diego; Rady Children's Hospital, San Diego, CA, USA.
Catherine F MertonDivision of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.
Anna J BoomanDivision of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.
Johnna D O'SullivanDivision of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.
Kriszha A SheehyCasimir, LLC, Rockville, MD, USA.
Jessica DuisChilden's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, CO, USA.
Wen-Hann Tan *Division of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.
Anjali Sadhwani *Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOutcome measures currently used to assess function in Angelman Syndrome (AS) may be affected by participant anxiety in the clinic, use of a measure outside of age norms, and a reliance on caregiver report. This study aimed to leverage the process used to develop the Duchenne Video Assessment to develop, pilot, and evaluate tasks to be recorded in AS to lay the foundation for the Angelman Syndrome Video Assessment (ASVA), which is being developed for the assessment of everyday functional skills in individuals with AS in their home environment.

methodsThe task list was informed by published conceptual disease models identifying four domains of interest (i.e. communication, motor skills (fine and gross), self-care and executive functioning) and determined by a team of experts based on family and clinician input. The study was conducted remotely in the home environment, with families capturing videos of everyday activities and participating in an exit interview about their experience. Videos were evaluated, and caregiver interview transcripts were coded and analyzed to determine whether each task would be included in the finalized measure.

resultsEleven dyads (i.e., caregiver and individual with AS) completed the study. Individuals with AS between 4 and 39 years of age were enrolled. The video completion rate was 96%, with 99% of the submitted videos meeting quality standards. Caregivers endorsed the value of assessing these individuals in their home environment. The video capture list was reduced to 13 tasks for ambulatory individuals and 12 tasks for minimally ambulatory individuals.

conclusionsThe ASVA is a novel tool that captures data on the daily functioning of individuals with AS in their home environment. If it is validated in the future, this tool presents a promising new approach to evaluate participant functioning in clinical trials and for clinical care.

Indexed as

Activities of Daily LivingAngelman SyndromeMotor SkillsVideo RecordingAdolescentAdultCaregiversChildChild, PreschoolExecutive FunctionFemaleHumansMalePilot ProjectsYoung AdultActivities of daily livingAngelman syndromeNeurodevelopmental assessmentReal-world assessmentVideo assessment

Identifiers

PMID41714940
PMCPMC13019984

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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.