Evidence map›Paper›PMID 36031301›Full record

ReviewHandbook of clinical neurology2022

Breathing disturbances in Rett syndrome.

Jan-Marino Ramirez, Marlusa Karlen-Amarante, Jia-Der Ju Wang, Alyssa Huff, Nicholas Burgraff

Open access · greenAbstract readReview
In one paragraph

Review in Handbook of clinical neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
26.1field-weighted citation impact, top 1% 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

19 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Review
  6. Review
  7. Article
  8. Review
  9. Sleep Disorders in Children with Rett Syndrome.Children (Basel, Switzerland) · 2025
    Review
  10. Article
  11. Article
  12. A brainstem map of orofacial rhythms.bioRxiv : the preprint server for biology · 2025
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Inhibitory Synaptic Influences on Developmental Motor Disorders.International journal of molecular sciences · 2023
    Review
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 1 institution in 1 country.

Jan-Marino RamirezCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, United States; Department of Neurological Surgery, University of Washington School of Medicine, Seattle, WA, United States. Electronic address: nino1@uw.edu.
Marlusa Karlen-AmaranteCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, United States.
Jia-Der Ju WangCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, United States.
Alyssa HuffCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, United States.
Nicholas BurgraffCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, United States.
Neurological Surgery · US

Funding

Integrative Consequences of HypoxiaP01HL090554 · NHLBI · UNIVERSITY OF CHICAGO · PI PRABHAKAR, NANDURI R · 2008 to 2017
$21.4M
Mechanisms Underlying Sympathetic Activation-dependent Endothelial Cell Activation by Chronic Intermittent HypoxiaP01HL144454 · NHLBI · UNIVERSITY OF CHICAGO · PI NANDURI, JAYASRI · 2019 to 2023
$12.7M
Unraveling respiratory rhythm generation in the medullary networkR01HL126523 · NHLBI · SEATTLE CHILDREN'S HOSPITAL · PI Jan M. Ramirez · 2015 to 2026
$8.3M
Unraveling the dynamic mechanisms underlying opioid respiratory depressionR01HL144801 · NHLBI · SEATTLE CHILDREN'S HOSPITAL · PI Jan M. Ramirez · 2019 to 2026
$5.2M
Neuroglial interactions underlying the generation of the sighR01HL151389 · NHLBI · SEATTLE CHILDREN'S HOSPITAL · PI RAMIREZ, JAN M. · 2020 to 2023
$3.2M
Rhythmogenic states of the respiratory network reveal differential opioid sensitivityF32HL154558 · NHLBI · SEATTLE CHILDREN'S HOSPITAL · PI BURGRAFF, NICHOLAS J · 2020 to 2023
$204k
NHLBI NIH HHS F32 HL154558NHLBI NIH HHS P01 HL090554NHLBI NIH HHS P01 HL144454NHLBI NIH HHS R01 HL126523NHLBI NIH HHS R01 HL144801NHLBI NIH HHS R01 HL151389
6 · The paper itself

Abstract

Rett Syndrome is an X-linked neurological disorder characterized by behavioral and neurological regression, seizures, motor deficits, and dysautonomia. A particularly prominent presentation includes breathing abnormalities characterized by breathing irregularities, hyperventilation, repetitive breathholding during wakefulness, obstructive and central apneas during sleep, and abnormal responses to hypoxia and hypercapnia. The condition and pathology of the respiratory system is further complicated by dysfunctions of breathing-motor coordination, which is reflected in dysphagia. The discovery of the X-linked mutations in the MECP2 gene has transformed our understanding of the cellular and molecular mechanisms that are at the root of various clinical phenotypes. However, the genotype-phenotype relationship is complicated by various factors which include not only X-inactivation but also consequences of the intermittent hypoxia and oxidative stress associated with the breathing abnormalities.

Indexed as

Respiration DisordersRett SyndromeHumansHypoxiaRespirationSleepApneaBreathingRett Syndrome

Identifiers

PMID36031301
PMCPMC10029146
OpenAlexW4293312273

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.