

Diagnostic criteria and effective treatment strategies for respiratory failure in children with ROHHAD-syndrome
https://doi.org/10.21508/1027-4065-2025-70-2(p.2)-65-73
Abstract
A team of authors reported their outcomes of treatment of 9 children with ROHHAD syndrome and severe respiratory insufficiency at the stage of formation of ventilator dependency. The diagnostic criteria were evaluated based on different clinical variables and the incidence of the disease. This article highlights the problems of early diagnosis of respiratory insufficiency, prevention of severe hypoventilation complications and the prosthesis of respiratory function. The authors discussed an efficacy of diaphragm pacing as an alternative method for traditional mechanical ventilation.
About the Authors
G. G. ProkopevRussian Federation
Moscow
M. M. Abidova
Russian Federation
Moscow
E. V. Postnikova
Russian Federation
Moscow
M. Yu. Shorina
Russian Federation
Moscow
A. D. Mihajlova
Russian Federation
Moscow
S. S. Zhilina
Russian Federation
Moscow
A. B. Sulejmanov
Russian Federation
Moscow
A. I. Medvedev
Russian Federation
Moscow
A. I. Krapivkin
Russian Federation
Moscow
References
1. Severinghaus J., Mitchell R. Ondine’s curse — failure of respiratory center automaticity while awake. Clin Res 1962; 10: 122.
2. Fishman L.S., Samson J.H., Sperling D.R. Primary alveolar hypoventilation syndrome (Ondine’s curse): association with manifestations of hypothalmic disease. Am J Dis Child 1965; 110: 155–161. DOI:org/10.1001/archpedi.1965.02090–03016–5011
3. Sateia M.J. International Classification of Sleep Disorders. Third Edition Highlights and Modifications. Chest 2014; 146(5): 1387–1394. DOI: 10.1378/chest.14–0970
4. Ize-Ludlow D., Gray J.A., Sperling M.A., Berry-Kravis E., Milunsky J.M., Sadaf Farooqi I., et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007; 120 (1): 179–188. DOI: 10.1542/peds.2006–3324
5. Khaytin I., Kaitlyn V., Barclay S.F., Benson L.A., Slattery S.M., Rand C.M., et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding. Clin Auton Res 2023; 33(3): 251–268. DOI: 10.1007/s10286–023–00936-y
6. Kareva M.A., Zhurtova I.B., Orlova E.M., Shiryaeva L.I. Sindrom ROHHADNET. Ozhirenie i metabolizm 2011; 8(3): 61–66. (in Russ.) DOI: 10.14341/2071–8713–4839
7. Balykova L.A., Ivyanskaya N.V., Samoshkina E.S., Ivyansky S.A., Petrushkina Yu.A., Fadeeva T.A., et al. ROHHAD syndrome (literature review and case report). Prakticheskaja medicina 2018; 16 (8): 84–91. (in Russ.) DOI: 10.32000/2072–1757–2018–8–84–91
8. Tozliyan E.V. ROHHAD-sindrom. Case report. Praktika pediatra 2019; 1: 43–51. (in Russ.)
9. Pushko L.V., Gutyrchik T.A., Ovsyannikov D.Yu., Petryajkina E.E., Andjel A.E., Petrova N.A., et al. Issues of diagnosing of the ROHHAD syndrome in a 2-year-old girl. Pediatria n.a. G.N. Speransky 2020; 99 (1): 237–241. (in Russ.) DOI: 10.24110/0031–403X-2020–99–1–237–241
10. Weese-Mayer D.E., Rand C.M., Ize-Ludlow D. Commentary: rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): remember your ABCs (airway, breathing, circulation). J Canadian Academy Child Adolescent Psychiatry 2013; 22 (3): 238–239.
11. Pushko L.V., Gutyrchik T.A., Ovsyannikov D.Yu., Petrova N.A., Teterkina A.O., Gutyrchik N.A., Menshikov D.D. ROHHAD syndrome (review). Saratov Journal of Medical Scientific Research 2019; 15 (3): 601–606. (in Russ.)
12. Lazea C., Sur L., Florea M. ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome — What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review. Int J Gen Med 2021; 14: 319–326. DOI: 10.2147/IJGM.S293377
13. Aljabban L., Kassab L., Bakoura N.A., Fayez Alsalka M., Maksoud I. Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report. J Med Case Rep 2016; 10(1): 328. DOI: 10.1186/s13256–016–1116-z
14. Giberson C.E., Cheshier S.H., Poree L.R., Saulino M.F. Diaphragm Pacing: A Safety, Appropriateness, Financial Neutrality, and Efficacy Analysis of Treating Chronic Respiratory Insufficiency. Neuromodulation 2023; 26(3): 490–497. DOI: 10.1016/j.neurom.2022.10.059
Review
For citations:
Prokopev G.G., Abidova M.M., Postnikova E.V., Shorina M.Yu., Mihajlova A.D., Zhilina S.S., Sulejmanov A.B., Medvedev A.I., Krapivkin A.I. Diagnostic criteria and effective treatment strategies for respiratory failure in children with ROHHAD-syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(2/2):65-73. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-2(p.2)-65-73