Evidence map›Paper›PMID 31879555›Full record

SynthesisMolecular autism2019

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Alexander Kolevzon, Elsa Delaby, Elizabeth Berry-Kravis, Joseph D Buxbaum, Catalina Betancur

Open access · goldAbstract readSystematic Review
In one paragraph

Synthesis in Molecular autism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 3 pooled it
9.1field-weighted citation impact, top 2% 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

47 citing papers in PubMed, 3 syntheses or guidelines pooled it, 89 citations in OpenAlex.

  1. Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.American journal on intellectual and developmental disabilities · 2025
    Article
  15. Article
  16. Article
  17. Case Report: Co-occurringFrontiers in genetics · 2025
    Article
  18. Behavioral decline in Shank3Molecular autism · 2024
    Article
  19. Article
  20. Article
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

5 authors at 3 institutions in 2 countries.

Alexander Kolevzon1Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY USA.ORCID 0000-0001-8129-2671
Elsa Delaby6Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.
Elizabeth Berry-Kravis7Department of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois USA.ORCID 0000-0001-7099-1522
Joseph D Buxbaum1Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY USA.ORCID 0000-0001-8898-8313
Catalina Betancur6Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.ORCID 0000-0002-3327-4804
Allen Institute for Brain Science · USCentre National de la Recherche Scientifique · FRRush University Medical Center · US

Funding

Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Joseph D. Buxbaum · 2014 to 2026
$20.1M
Electrophysiological Markers for Interventions in Phelan-McDermid Syndrome and Idiopathic AutismR01NS105845 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOLEVZON, ALEXANDER · 2018 to 2022
$3.7M
NINDS NIH HHS R01 NS105845NINDS NIH HHS U54 NS092090
6 · The paper itself

Abstract

Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the

Indexed as

AdolescentAdultAgedAge of OnsetChildChromosome DeletionChromosome DisordersChromosomes, Human, Pair 22FemaleHumansMaleMiddle AgedPhenotypeYoung Adult22q13 deletion syndromeBipolar disorderCatatoniaPhelan-McDermid syndromePsychosisRegressionSHANK3

Identifiers

PMID31879555
PMCPMC6930682
OpenAlexW2998119978

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.