ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge

peer reviewedBackgroundROHHAD 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 methodsA retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.ResultsFour patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m2. Signs of autonomic dysfunction presented first, followed by hypothalamic disorders. All four patients had sleep apnea syndrome. Hypoventilation led to the diagnosis. Three of the four children received ventilatory support, all four received hormone replacement therapy, and two received psychotropic treatment. One child in our cohort died at 2 years 10 months old. For the three surviving patients, median duration of follow-up was 7.4 years.ConclusionROHHAD 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

Validation d’un score d’alerte et caractérisation des trajectoires de gravité des patients hospitalisés dans les unités de surveillance continue pédiatriques

Background: Pediatric Intermediate care units (PImCU) are Intermediate care units(ImCU) or high dependency care units (HDC), between regular wards and intensivecare units (ICUs), for children requiring continuous monitoring without active lifesupportingtreatment. These patients are at high risk of deterioration and thevalidation of an early warning score (EWS) in this population would be interesting.Objectives: 1- To validate early warning scores in PImCU2- To classify patients according to their general characteristics, their diagnoses andthe severity trajectories of illness.Methods: Regional multicenter prospective observational study in seven FrenchPImCU including all consecutive children admitted from September 2012 toJanuary 2014. Validation of EWS in PImCU using a general linear mixed modelfor repeated measures. The cohort was divided into derivation (70%) and validation(30%) cohorts. The discrimination to predict physician call by nurse was estimatedby the area under the receiver-operating curve. A latent class linear mixed modelwas used to identify different trajectories of severity of illness of PImCU patients.Results: A total of 2868 children were included for 14708 observations to computea posteriori the EWS. The discrimination of the three EWS for predicting calls tophysicians by nurses was good (range: 0.87–0.91) for the derivation cohort andmoderate (range: 0.71–0.76) for the validation cohort. The primary failure foradmission to PImCU was respiratory (44%) and infectious etiology was the mostcommon (52%). The two most common diagnoses are asthma and bronchiolitis.Ten diagnoses account for 58% of PImCU patients. The median length of stay was1 day [1-3]. The latent class analysis identified different trajectories of severity ofillness: profile "stable" (60.4%), profile "rapid improvement" (6.5%) and profile"slow improvement" (33.1%).Conclusion: SAP can be used in PImCU to detect clinical deterioration and predictthe need for medical intervention. Three very different trajectories of severity wereidentified with a majority of "stable" profile.Contexte : Les unités de surveillance continue (USC) pédiatriques constituent des structures de soins intermédiaires, entre les services « classiques » de pédiatrie (dits« soins courants ») et les services de réanimation, pour les enfants nécessitant une surveillance continue sans mise en oeuvre de méthode de suppléance. Ces patients sont à haut risque de dégradation et la validation d’un score d’alerte précoce (SAP) dans cette population serait intéressante.Objectifs : 1- Valider un score d’alerte précoce en USC pédiatriques.2- Classifier les malades de ces USC pédiatriques selon leurs caractéristiquesgénérales, leurs affections et les trajectoires de gravité de leur maladie.Méthodes : Etude observationnelle prospective multicentrique régionale dans septUSC pédiatriques françaises incluant tous les enfants consécutifs admis de septembre 2012 à janvier 2014. Validation de trois SAP, recueillis toutes les 8 heures (le Pediatric Advanced Warning Score (PAWS), le Pediatric Early WarningScore (PEWS) et le Bedside Pediatric Early Warning System (Bedside PEWS)) dans la population d’USC en utilisant un modèle linéaire mixte généralisé pourmesures répétées. La cohorte était divisée en échantillon de dérivation (70%) et en échantillon de validation (30%). La discrimination de ces SAP pour la prédiction de l’appel du médecin par l’infirmière en cas de détérioration clinique était mesurée par l’aire sous la courbe ROC. Un modèle mixte linéaire à classes latentes était utilisé pour identifier différentes trajectoires de gravité de ces patients d’USC.Résultats : Un total de 2868 enfants a été inclus pour 14708 observations utilisables pour calculer a posteriori les SAP. La discrimination des trois SAP pour prédire l’appel du médecin était bonne (entre 0,87 et 0,91) sur la cohorte de dérivation et modérée (entre 0,71 et 0,76) sur la cohorte de validation.La défaillance principale à l’origine de l’admission en USC était respiratoire (44%)et l’étiologie infectieuse était la plus fréquente (52%). Les deux diagnostics les plus fréquents étaient l’asthme et la bronchiolite. Dix diagnostics représentaient 58%des patients d’USC. La médiane de durée de séjour était de 1 jour [1-3]. L’analyse en classe latente mettait en évidence différentes trajectoires de gravité : le profil« stable» (60,4%), le profil « amélioration rapide » (6,5%) et le profil« amélioration lente » (33,1%).Conclusion : Les SAP peuvent être utilisés dans les USC pour détecter une détérioration clinique et prédire la nécessité d'une intervention médicale. Trois trajectoires très différentes de gravité ont été identifiées avec une majorité de patients appartenant au profil « stable»

Création d'un score clinique prédictif d'une réhydratation intraveineuse dans la gastroentérite aigüe du nourrisson (étude rétrospective de trois cohortes aux urgences pédiatriques du CHRU de Lille)

LILLE2-BU Santé-Recherche (593502101) / SudocSudocFranceF

Table_1_ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.docx

BackgroundROHHAD 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 methodsA retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.ResultsFour patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m2. Signs of autonomic dysfunction presented first, followed by hypothalamic disorders. All four patients had sleep apnea syndrome. Hypoventilation led to the diagnosis. Three of the four children received ventilatory support, all four received hormone replacement therapy, and two received psychotropic treatment. One child in our cohort died at 2 years 10 months old. For the three surviving patients, median duration of follow-up was 7.4 years.ConclusionROHHAD 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.</p

Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study

International audienceObjective: To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France.Design: Cross-sectional national survey.Setting: Paediatric CPAP/NIV teams of 28 tertiary university hospitals in France.Patients: Children aged <20 years treated with CPAP/NIV since at least 3 months on June 1st, 2019.Intervention: An anonymous questionnaire was filled in for every patient.Results: The data of 1447 patients (60% boys), mean age 9.8 ± 5.8 years were analysed. The most frequent underlying disorders were: upper airway obstruction (46%), neuromuscular disease (28%), disorder of the central nervous system (13%), cardiorespiratory disorder (7%), and congenital bone disease (4%). Forty-five percent of the patients were treated with CPAP and 55% with NIV. Treatment was initiated electively for 92% of children, while 8% started during an acute illness. A poly(somno)graphy (P(S)G) was performed prior to treatment initiation in 26%, 36% had a P(S)G with transcutaneous carbon dioxide monitoring (PtcCO2), while 23% had only a pulse oximetry (SpO2) with PtcCO2 recording. The decision of CPAP/NIV initiation during an elective setting was based on the apnea-hypopnea index (AHI) in 41% of patients, SpO2 and PtcCO2 in 25% of patients, and AHI with PtcCO2 in 25% of patients. Objective adherence was excellent with a mean use of 7.6 ± 3.2 h/night. Duration of CPAP/NIV was 2.7 ± 2.9 years at the time of the survey.Conclusion: This survey shows the large number of children treated with long term CPAP/NIV in France with numerous children having disorders other than neuromuscular disease

Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France

International audienc