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Générique Obésités De Causes Rares Protocole National de Diagnostic et de Soins (PNDS) Générique Obésités de causes rares Centre de Référence des maladies rares PRADORT Syndrome de PRADer-Willi et autres Obésités Rares avec Troubles du comportement alimentaire 19 JUILLET 2021 Partie 2 – Argumentaire Cet argumentaire a été élaboré par le Centre de Référence du Syndrome de PRAder-Willi et autres Obésités Rares avec Troubles du comportement alimentaire (PRADORT) . Il a servi de base à l’élaboration du PNDS : Obésités de causes rares. Le PNDS est téléchargeable sur le site de l’HAS, le site du centre de référence PRADORT et le site de la filière DEFISCIENCES CRMR PRADORT 19/07/2021 DéfiScience Filière de santé maladies rares neurdéveloppement 1 Sommaire Liste des abréviations ........................................................................................3 Préambule ........................................................................................................4 Méthode de travail 4 Argumentaire ....................................................................................................5 1.1 Recherche documentaire 5 1.1.1 Base de données et nombre de références 5 1.1.2 Critères de sélection des articles 6 1.2 Sélection des articles 7 1.2.1 Recommandations HAS 7 1.2.2 Articles 10 Annexe 1. Liste des participants ........................................................................108 Annexe 2. Adresses et Coordonnées .................................................................110 Références bibliographiques .............................................................................111 2 Liste des abréviations ALD Affection de Longue Durée AMH Hormone anti-mullérienne HTA Hypertension Artérielle AMM Autorisation de Mise sur le IAH Index d’Apnées Hypopnées Marché IMC Indice de Masse Corporelle AMP Assistance médicale à la IRM Imagerie par Résonance procréation Magnétique ALAT Alanine aminotransférase IOTF International Obesity Task ANSM Agence Nationale de Sécurité Force du Médicament et des MDPH Maison Départmentale des produits de santé Personnes Handicapées ASAT Aspartate aminotransferase MPR Médecine Physique et APA Activité Physique Adaptée Rééducation ATU Autorisation Temporaire NAFLD Non Alcoholic Fatty Liver d’Utilisation Disease BBS Syndrome de Bardet-Biedl NASH Non-Alcoholic SteatoHepatitis BNP Brain natriuretic peptide PAG Plan d’Accompagnement CA Comportement Alimentaire Global CC Centre de compétence PCH Prestation Compensatoire du CP Craniopharyngiome Handicap CRMR Centre de Référence Maladies PHP Pseudohypoparathyroidie Rares PNDS Protocole National de CSO Centre Spécialisé de l’Obésité Diagnostic et de Soins DI Déficience Intellectuelle PRADORT Prader-willi et autres Obésités DEXA Absorptiométrie biphotonique Rares avec Troubles du (Dual x-ray absorptiometry) comportement alimentaire DS Déviation Standard PSG Polysomnographie DT2 Diabète de type 2 RCP Réunion de Concertation ECG Electrocardiogramme Pluridisciplinaire ESMS Etablissement Social et RGO Reflux Gastro Oesophagien MédicoSocial ROHHAD Rapid Onset of obesity ETT Echographie Trans-thoracique Hypoventilation Hypothalamic FALC Facile à lire et à comprendre Autonomic Disorder FDA Food Drug Administration SAOS Syndrome d’Apnées FDRCV Facteurs de Risque Cardio- Obstructives du Sommeil Vasculaires SOPK Syndrome des Ovaires ERHR Equipe Relai Handicap Rare Polykystiques ETP Education Thérapeutique du SOH Syndrome d’Obésité Patient Hypoventilation GDS Gaz du Sang SPW Syndrome de Prader-Willi GLP-1 Glucagon-Like Peptide-1 SRA Système Rénine Angiotensine GH Growth Hormone TCA Troubles du Comportement GOS Groupe Opérationnel de Alimentaire Synthèse TG Triglycérides HAS Haute Autorité de Santé THS Traitement Hormonal HbA1c Hémoglobine Glyquée Substitutif HDL High Density Lipoprotein TILE Test Itératif de Latences HOMA-IR HOmeostatic Model d’Endormissement Assessment of Insulin TND Trouble Neuro- Resistance Développemental TSA Trouble du Spectre Autistique 3 Préambule Le PNDS Générique Obésités de causes rares a été élaboré selon la « Méthode d’élaboration d’un protocole national de diagnostic et de soins pour les maladies rares » publiée par la Haute Autorité de Santé en 2012 (guide méthodologique disponible sur le site de la HAS : www.has-sante.fr). Le présent argumentaire comporte l’ensemble des données bibliographiques identifiées et analysées pour la rédaction du PNDS. Des Informations complémentaires sont disponibles sur le site internet de la filière DéfiScience. http://www.defiscience.fr et des Centres de référence. Ce PNDS s’adosse à plusieurs autres PNDS spécifiques des syndromes cités, listés page 10-11 de cet argumentaire. Méthode de travail La méthode utilisée pour l’élaboration de ce protocole national de diagnostic et de soins (PNDS) est celle des « Recommandations pour la pratique clinique » 1. Elle repose, d’une part, sur l’analyse et la synthèse critique de la littérature médicale disponible, et, d’autre part, sur l’avis d’un groupe multidisciplinaire de professionnels concernés par le thème du PNDS. Un premier groupe a été constitué par le centre de référence PRADORT sous la coordination du Pr Christine Poitou-Bernert. Il s’agissait de réaliser une bibliographie complète sur tous les syndromes identifiés comme associés à une obésité dans la littérature et dans différents moteurs de recherche (Orphanet, OMIM). Un cadrage de la thématique, l’analyse et la synthèse de la littérature médicale et scientifique pertinente ainsi que la rédaction des deux premières parties sur les définitions et le diagnostic ont été réalisés. Le groupe s’est réuni tous les mois de mars 2020 à janvier 2021. Un deuxième groupe de rédaction multidisciplinaire a été sollicité pour la rédaction de l’évaluation et de prise en charge pour les co-morbidités d’organes (partie III). Chaque membre du groupe de travail multidisciplinaire a amendé chaque chapitre selon son expertise, et ajouté les références jugées manquantes, en lien avec l’équipe de coordination. Les échanges se sont faits par visioconférence et/ou mails régulièrement de juin 2020 à février 2021. L’ensemble du contenu du PNDS ainsi que les références bibliographiques ont été validés à la fois par les rédacteurs et le groupe de travail multidisciplinaire. Une première version du PNDS a été soumise à un troisième groupe de lecture multidisciplinaire et multiprofessionnel. Il est composé de professionnels de santé, ayant un mode d’exercice public ou privé, d’origine géographique diverse ou d’écoles de pensées diverses, d’autres professionnels concernés et de représentants d’associations de patients et d’usagers. Il a été consulté par mail et a donné un avis sur le fond et la forme du document, en particulier sur la lisibilité et l’applicabilité du PNDS. Les commentaires du groupe de lecture ont ensuite été analysés et discutés par le groupe de coordination qui rédige la version finale du PNDS. La Grillle d’Evaluation de la HAS a été validée par le premier groupe de coordonnateur le 28 juin 2021 lors de la dernière rencontre. 1 Cf. Les recommandations pour la pratique clinique - Base méthodologique pour leur réalisation en France. Anaes, 1999 - 2000. 4 Argumentaire 1.1 Recherche documentaire 1.1.1 Base de données et nombre de références Sources Consultées Bases de données bibliographiques: Pubmed - https://www.ncbi.nlm.nih.gov/pubmed Medline - http://www.ncbi.nlm.nih.gov/sites/entrez Portail Orphanet - http://www.orpha.net/consor/cgi-bin/index.php?lng=FR OMIM - https://www.omim.org Genereviews : https://www.ncbi.nlm.nih.gov/books/NBK1116/ Sites internet : clinical trials Langues retenues Français, Anglais Nombre d’étude Nombre recensées d’études retenues Parties 1 et 2 : Descripteurs génériques des obésités rares ((Obesity / genetics*[MeSH Terms]) OR (CRANIOPHARYNGIOMA[MeSH Terms])) AND (DIAGNOSIS[MeSH Terms]) (syndrome[MeSH Terms]) AND (obesity[MeSH Terms]) 950 48 (melanocortin[MeSH Terms]) AND (obesity[MeSH Terms]) (hypothalamic obesity[Text Word]) "Obesity, Morbid/genetics"[MAJR] Période de recherche 1/1/2010-31/12/2020 Parties 1 et 2 : Descripteurs génériques des gènes et syndromes OBESITY/pathology[MeSH Terms] OR obesity/complications[MeSH Terms] OR 2733 238 dietetics[MeSH Terms] OR food[MeSH Terms] OR hyperphagia[MeSH Terms] Période de recherche ILLIMITEE AND Alstrom syndrome/Prader-Willi syndrome/Bardet-Biedl syndrome AND MO1 syndrome OR CEP19 AND Pseudohypoparathyroidism AND Fragile X syndrome AND Schaaf-Yang syndrome OR MAGEL2 AND MYT1L AND SIM1 AND NTRK2 AND CHOPS syndrome AND 16p11.2 deletion syndrome AND SH2B1 AND WAGRO syndrome AND BDNF AND ADCY3 AND MRAP2 AND LEP AND LEPR AND MC4R AND POMC AND PCSK1 AND Carpenter syndrome AND MC3R AND Cohen Syndrome AND Borjeson-Forssman-Lehmann syndrome OR PHF6 AND Deletion 2q37 syndrome OR HDAC4 AND Smith Magenis syndrome AND Intellectual disability- obesity-brain malformations-facial dysmorphism syndrome Mental retardation, autosomal recessive 13 AND Short stature, brachydactyly, intellectual developmental disability, and seizures syndrome (SBIDDS) AND MEHMO syndrome AND MORM syndrome (Mental retardation-truncal obesity-retinal dystrophy-micropenis) AND SINO syndrome (Spastic paraplegia-Intellectual Disability-Nystagmus-Obesity) AND TUB AND Laron Syndrome AND Kabuki Syndrome AND Chung-Jansen syndrome AND Ulnar-mammary syndrome AND KSR2 AND NCOA1 OR SRC1 AND Kleefstra syndrome AND Rubinstein-Taybi syndrome AND 22q11 deletion syndrome OR Di George syndrome AND maternal UPD14 OR Temple syndrome AND BRWD3 AND Clark- Baraitser syndrome OR TRIP12 AND Chudley-Lowry syndrome AND
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