Evidence map›Paper›PMID 36120648›Full record

ArticleFrontiers in pediatrics2022

ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.

Blandine Desse, Antoine Tran, Mathilde Butori, Sarah Marchal, Michael Afanetti, Sébastien Barthélemy, Etienne Bérard, Elisabeth Baechler, Stéphane Debelleix, Marie-Emilie Lampin and 5 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 29% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. ROHHAD-NET Syndrome: A Case Series.Journal of the ASEAN Federation of Endocrine Societies · 2025
    Article
  3. Review
  4. Article
  5. Review
  6. 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

15 authors at 7 institutions in 2 countries.

Blandine DessePediatric and Neonatology Department, Hopital de Grasse, Grasse, France.
Antoine TranPediatric Emergency Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Mathilde ButoriPediatric Gastroenterology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Sarah MarchalPediatric Pulmonology and Allergology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Michael AfanettiPediatric Intensive Care Unit, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Sébastien BarthélemyPediatric Intensive Care Unit, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Etienne BérardPediatric Nephrology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Elisabeth BaechlerPediatric Endocrinology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Stéphane DebelleixPediatric Pulmonology Department and Cystic Fibrosis Center, CHU de Bordeaux, Bordeaux, France.
Marie-Emilie LampinPediatric Intensive Care Unit, CHU de Lille, Lille, France.
Julie MaceyRespiratory Medicine and Cystic Fibrosis Center, CHU de Bordeaux, Bordeaux, France.
Bruno MassenavetteIntensive Care Unit, Hospices Civils de Lyon, Hopital Femme Mere Enfant, Bron, France.
Julie HarvengtDepartment of Human Genetics, Sart-Tilman, Liège, Belgium.
Ha TrangPediatric Sleep Center, Hopital Universitaire Robert Debre, Paris, France.
Lisa Giovannini-ChamiPediatric Pulmonology and Allergology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France.
Fondation Lenval · FRCentre Hospitalier Universitaire de Bordeaux · FRCentre Hospitalier Universitaire de Lille · FRHôpital Robert-Debré · FRHospices Civils de Lyon · FRObservatoire de la Côte d’Azur · FRUniversity of Liège · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown. Alteration of respiratory control as well as dysautonomic disorders often have a fatal outcome, thus early recognition of this syndrome is essential. Material and methods: A retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020. Results: Four patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m Conclusion: ROHHAD syndrome without rapid-onset obesity is a particular entity, appearing later than ROHHAD with obesity. This entity should be considered in the presence of dysautonomia disorders without brain damage. Likewise, the occurrence of a hypothalamic syndrome with no identified etiology requires a sleep study to search for apnea and hypoventilation. The identification of ROHHAD syndrome without rapid-onset obesity is a clinical challenge, with major implications for patient prognosis.

Indexed as

central hypoventilationchilddysautonomiahypothalamic syndromeROHHAD syndrome

Identifiers

PMID36120648
PMCPMC9471950
OpenAlexW4293741014

What OpenQuestion holds

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LicenceCC BY
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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.