Evidence map›Paper›PMID 23226951›Full record

ReviewDialogues in clinical neuroscience2012

The relationship of Rett syndrome and MECP2 disorders to autism.

Jeffrey Lorenz Neul

Registry-linked trialOpen access · diamondAbstract readReview
In one paragraph

Review in Dialogues in clinical neuroscience, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03269110 (Folic Acid Clinical Trial), which is not on this map. Cited by 72 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 2 pooled it
6.0field-weighted citation impact, top 3% 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.

NCT03269110 completednot on this mapstarted 2017, after this paper: background citation

Folic Acid Clinical Trial: Follow up of Children (FACT 4 Child)

TypeobservationalSponsorOttawa Hospital Research InstituteRan2017 to 2023Enrolled664ConditionsAutism Spectrum Disorder, Asthma, Executive Dysfunction, Emotional ProblemArmsSRS 2, CBCL, BRIEF-P
3 · Its place in the literature

Who cites it

72 citing papers in PubMed, 2 syntheses or guidelines pooled it, 116 citations in OpenAlex.

  1. Pooled it
  2. Meta-Analysis IdentifiesInternational journal of molecular sciences · 2022
    Pooled it
  3. Article
  4. Variability in sensory processing and evoked potentials in Rett syndrome.medRxiv : the preprint server for health sciences · 2026
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Rett syndrome.Nature reviews. Disease primers · 2024
    Review
  10. Review
  11. Neuroanatomy of autism: what is the role of the cerebellum?Cerebral cortex (New York, N.Y. : 1991) · 2024
    Review
  12. Article
  13. Review
  14. Review
  15. Rett syndrome in Ireland: a demographic study.Orphanet journal of rare diseases · 2024
    Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Article

12 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 2 countries.

Jeffrey Lorenz NeulNeurological Research Institute, 1250 Moursund Street, Suite 1250.18, Houston, TX 77030, USA. jneul@bcm.edu
Neurological Research Institute · US

Funding

Characterizing autonomic dysfunction in Rett syndrome and other MECP2 disordersR01HD062553 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI NEUL, JEFFREY L · 2010 to 2014
$1.7M
NICHD NIH HHS R01 HD062553
6 · The paper itself

Abstract

Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression with loss of volitional hand use and spoken language, the development of repetitive hand stereotypies, and gait impairment. The majority of people with RTT have mutations in Methyl-CpG-binding Protein 2 (MECP2), a transcriptional regulator. Interestingly, alterations in the function of the protein product produced by MECP2, MeCP2, have been identified in a number of other clinical conditions. The many clinical features found in RTT and the various clinical problems that result from alteration in MeCP2 function have led to the belief that understanding RTT will provide insight into a number of other neurological disorders. Excitingly, RTT is reversible in a mouse model, providing inspiration and hope that such a goal may be achieved for RTT and potentially for many neurodevelopmental disorders.

Indexed as

AnimalsAutistic DisorderDisease Models, AnimalFemaleHumansMaleMethyl-CpG-Binding Protein 2MiceMutationRett SyndromeMethyl-CpG-Binding Protein 2autismclinical featureMECP2neurodevelopmental disorderRett syndrometreatment

Identifiers

PMID23226951
PMCPMC3513680
OpenAlexW1516841398

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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.