Evidence map›Paper›PMID 31854050›Full record

ArticleJournal of intellectual disability research : JIDR2020

Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants.

A Sadhwani, J M Willen, H Miller, R Barbieri-Welge, L T Horowitz, L M Noll, S Peters, R Hundley, L M Bird, W H Tan

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of intellectual disability research : JIDR, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 83% 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.

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 synthesis or guideline pooled it, 1 citations in OpenAlex.

  1. Pooled it
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

10 authors at 6 institutions in 1 country.

A SadhwaniDepartment of Psychiatry, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-0938-0591
J M WillenDivision of Genetics & Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.
H MillerDivision of Genetics & Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.
R Barbieri-WelgeDevelopmental Evaluation Clinic, Rady Children's Hospital San Diego, San Diego, CA, USA.
L T HorowitzGreenwood Genetic Center, Greenwood, SC, USA.
L M NollPsychology Service, Texas Children's Hospital, Houston, TX, USA.
S PetersDivision of Developmental Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
R HundleyDivision of Developmental Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
L M BirdUniversity of California, San Diego, Department of Pediatrics and Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.
W H TanDivision of Genetics & Genomics, Boston Children's Hospital; Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-1593-6149
Boston Children's Hospital · USVanderbilt University Medical Center · USGreenwood Genetic Center · USRady Children's Hospital-San Diego · USTexas Children's Hospital · USUniversity of California San Diego · US

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
Research Project: Sensory and Multisensory Contributions to AutismU54HD083211 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DYKENS, ELISABETH MAY · 2015 to 2019
$7.1M
NCRR NIH HHS U54 RR019478NICHD NIH HHS U54 HD061222NICHD NIH HHS U54 HD083211
6 · The paper itself

Abstract

backgroundAngelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternally inherited UBE3A gene on chromosome 15. Individuals with AS due to a UBE3A mutation are more likely to have siblings who also have AS compared with those with AS due to other cytogenetic/molecular mechanisms, but it is unknown whether the developmental outcome of siblings who have AS is similar.

methodsThrough an ongoing AS Natural History Study, we identified seven pairs of siblings with AS due to a UBE3A mutation. We compared the neurodevelopment of the first-born and second-born siblings with AS participants who have a UBE3A mutation and have either typically developing siblings or no siblings.

resultsSecond-born AS participants due to a UBE3A mutation were more likely to be diagnosed at an earlier age. With the exception of higher expressive language scores among the second-born participants, no other differences were observed in the developmental and adaptive functioning skills across the different groups.

conclusionsThe presence of an older sibling with the same neurodevelopmental disorder is associated with an earlier age of diagnosis and may be associated with an improvement in expressive language skills; the developmental outcome of siblings with AS due to a UBE3A mutation is otherwise comparable.

Indexed as

Birth OrderSiblingsAge FactorsAngelman SyndromeChildChild, PreschoolEarly DiagnosisFemaleHumansInfantMaleUbiquitin-Protein LigasesUBE3A protein, humanUbiquitin-Protein Ligaseschild developmentdevelopmental disabilityphenotypesibshipUBE3A mutation

Identifiers

PMID31854050
PMCPMC8020893
OpenAlexW2995442537

What OpenQuestion holds

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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 OpenQuestion graph.