Evidence map›Paper›PMID 33625600›Full record

ReviewCurrent psychiatry reports2021

Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.

Ania M Fiksinski, Maude Schneider, Janneke Zinkstok, Danielle Baribeau, Samuel J R A Chawner, Jacob A S Vorstman

Open access · hybridAbstract readReview
In one paragraph

Review in Current psychiatry reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.3field-weighted citation impact, top 11% 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

18 citing papers in PubMed, 33 citations in OpenAlex.

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  18. Generation of a Mouse Model to Study the Noonan Syndrome GeneFrontiers in cell and developmental biology · 2021
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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

6 authors at 5 institutions in 5 countries.

Ania M FiksinskiDepartment of Psychiatry, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands. A.M.Fiksinski@umcutrecht.nl.ORCID 0000-0002-8169-7721
Maude SchneiderClinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, Geneva, Switzerland.
Janneke ZinkstokDepartment of Psychiatry, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Danielle BaribeauDepartment of Psychiatry, Hospital for Sick Children, Toronto, ON, Canada.
Samuel J R A ChawnerCardiff University Centre for Human Developmental Science, School of Psychology, Cardiff University, Cardiff, UK.
Jacob A S VorstmanDepartment of Psychiatry, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.
University of Toronto · CACardiff University · GBUniversity Health Network · CAUniversity Medical Center Utrecht · NLUniversity of Geneva · CH

Funding

Medical Research Council MR/L011166/1Medical Research Council MR/N022572/1Medical Research Council MR/T033045/1MRF_ MRF-058-0015-F-CHAW-C0867MRF_ MRF-154-0001-RG-SKUSEWellcome Trust 204824/Z/16/Z
6 · The paper itself

Abstract

purpose of reviewThe 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond. RECENT

findingsWe will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective. We outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions.

Indexed as

Autism Spectrum DisorderDiGeorge SyndromePsychotic DisordersSchizophreniaHumansMorbidity22q11.2 deletionCopy number variantGenetic modelNeurodevelopmentPsychiatryVariable penetrance

Identifiers

PMID33625600
PMCPMC7904715
OpenAlexW3131750330

What Socratic holds

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Registered trials

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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 Socratic graph.