Article (Scientific journals)
ROHHAD(NET) Syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis.
HARVENGT, Julie; GERNAY, Caroline; Mastouri, Mériem et al.
2020In Journal of Clinical Endocrinology and Metabolism
Peer reviewed
 

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Keywords :
ROHHAD; central hypoventilation; dysautonomia; neural crest tumor; precocious obesity; sinusal bradycardia
Abstract :
[en] CONTEXT: Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Syndrome (ROHHHAD(NET)) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. OBJECTIVE: To describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. DESIGN: We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. METHODS: All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the PRISMA individual patient data (IPD) guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, outcome. RESULTS: 43 IPD were analyzed. The timeline of the disease shows rapid onset obesity followed shortly afterwards by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2,2 years after the initial obesity. A NET was reported in 56% of the patients and 70% of these tumors were diagnosed within 2 years after initial weight gain. CONCLUSION: Since early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with a rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.
Disciplines :
Genetics & genetic processes
Author, co-author :
HARVENGT, Julie  ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Service de génétique
GERNAY, Caroline ;  Centre Hospitalier Régional Sambre et Meuse > Département de Pédiatrie > Pédiatrie > 2e année de master de spécialisation en pédiatrie
Mastouri, Mériem 
FARHAT, Nesrine  ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
LEBRETHON, Marie-Christine ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Centre de l'obésité de l'enfant - adolescent
Seghaye, Marie-Christine ;  Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie cardiologique et pneumologique
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine
Language :
English
Title :
ROHHAD(NET) Syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis.
Publication date :
2020
Journal title :
Journal of Clinical Endocrinology and Metabolism
ISSN :
0021-972X
eISSN :
1945-7197
Peer reviewed :
Peer reviewed
Commentary :
© Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Available on ORBi :
since 03 June 2020

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