Evidence map›Paper›PMID 29696780›Full record

ReviewAmerican journal of medical genetics. Part A2018

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.

Ann Swillen, Edward Moss, Sasja Duijff

Open access · greenAbstract readReview
In one paragraph

Review in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
1.5field-weighted citation impact, top 18% 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

23 citing papers in PubMed, 46 citations in OpenAlex.

  1. Neurocognitive and Socio-Emotional Profile of Children with 22q11.2 Deletion Syndrome: Executive Functions, Social Processing Deficits and Clinical Implications.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026
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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

3 authors at 3 institutions in 3 countries.

Ann SwillenDepartment of Human Genetics, KU Leuven, Leuven, Belgium.ORCID 0000-0003-4258-4537
Edward MossChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Sasja DuijffUniversity Medical Centre Utrecht, Utrecht, The Netherlands.
Children's Hospital of Philadelphia · USKU Leuven · BEUniversity Medical Center Utrecht · NL

Funding

"4/5 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome"U01MH101722 · NIMH · KATHOLIEKE UNIVERSITEIT LEUVEN · PI SWILLEN, ANN · 2013 to 2016
$1.3M
Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119759 · NIMH · KATHOLIEKE UNIVERSITEIT LEUVEN · PI SWILLEN, ANN · 2019 to 2023
$513k
International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome 5U01MH101722-04NIMH NIH HHS U01 MH101722NIMH NIH HHS U01 MH119759
6 · The paper itself

Abstract

The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social-emotional difficulties. Poor cognitive functioning and intellectual disabilities, attention and executive functioning deficits, learning disorders, emotional dysregulation and impairments in social processing are common among individuals with 22q11.2 DS. Identifying risk and protective/resilience factors that can be detected in early life and can predict neurodevelopmental outcomes for people with 22q11.2 DS is of significant clinical relevance and might allow for early detection and intervention. Given the focus of this review, we will discuss the possible contributing factors that influence the neurodevelopmental outcome in 22q1.2 DS, the cognitive phenotype in 22q11.2 DS, the different developmental trajectories across life span, and the implications for clinical practice and management.

Indexed as

Age FactorsCognitionDiGeorge SyndromeFemaleHumansMalePhenotype22q11.2 DScontributing factorsneurodevelopmental outcomepractice and management

Identifiers

PMID29696780
PMCPMC6202262
OpenAlexW2799649716

What OpenQuestion 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 OpenQuestion graph.