Evidence map›Paper›PMID 36071486›Full record

ArticleItalian journal of pediatrics2022

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.

Sergio Ghirardo, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi Degli Atti, Claudio Cherchi and 1 more

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In one paragraph

Article in Italian journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

11 authors at 2 institutions in 1 country.

Sergio GhirardoPediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. ghirardo.sergio@gmail.com.ORCID http://orcid.org/0000-0002-6329-4208
Letizia SabatiniUniversity Department of Pediatrics, Bambino Gesù Children's Hospital IRCCS, University of Rome Tor Vergata, Rome, Italy.
Alessandro OnofriPediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Maria Beatrice Chiarini TestaPediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Maria Giovanna PagliettiPediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Daria DiodatoDepartment of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Lorena TravagliniDepartment of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Fabrizia StregapedeDepartment of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Marta Luisa Ciofi Degli AttiClinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Claudio CherchiPediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Renato CutreraPediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Bambino Gesù Children's Hospital · ITUniversity of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. CASE PRESENTATION: We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements.

conclusionsThus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.

Indexed as

HypercapniaRett SyndromeFemaleHumansHypoventilationInfantMuscle HypotoniaSleepCongenital variantHypercapniaHypotoniaHypoventilationNon-invasive ventilationRett syndrome

Identifiers

PMID36071486
PMCPMC9450235
OpenAlexW4294877343

What OpenQuestion 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 OpenQuestion graph.