Research & Literature

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges.

Carroll MS, Patwari PP, Kenny AS, et al.

Pediatric pulmonology 2015; (50(12)):1336-45 doi:10.1002/ppul.23164.

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

Angulo MA, Butler MG, Cataletto ME

Journal of endocrinological investigation 2015; (38(12)):1249-63 doi:10.1007/s40618-015-0312-9.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF, Rand CM, Borch LA, et al.

Orphanet journal of rare diseases 2015; (10()):103 doi:10.1186/s13023-015-0314-x.

Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination.

Shapiro L, Elahi S, Riddoch F, et al.

Hormone research in paediatrics 2016; (86(1)):21-6 doi:10.1159/000446913.

Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide.

Jacobson LA, Rane S, McReynolds LJ, et al.

Pediatrics 2016; (138(1)).

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review.

Ibáñez-Micó S, Marcos Oltra AM, de Murcia Lemauviel S, et al.

Neurologia (Barcelona, Spain) 2017; (32(9)):616-622 doi:10.1016/j.nrl.2016.04.008.

ROHHAD syndrome and evolution of sleep disordered breathing.

Reppucci D, Hamilton J, Yeh EA, et al.

Orphanet journal of rare diseases 2016; (11(1)):106 doi:10.1186/s13023-016-0484-1.

ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases

Şiraz ÜG, Ökdemir D, Direk G, et al.

Journal of clinical research in pediatric endocrinology 2018; (10(4)):382-386 doi:10.4274/jcrpe.0027.

Cushing's Syndrome in Pediatrics: An Update.

Lodish MB, Keil MF, Stratakis CA

Endocrinology and metabolism clinics of North America 2018; (47(2)):451-462 doi:10.1016/j.ecl.2018.02.008.

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Barclay SF, Rand CM, Nguyen L, et al.

Orphanet journal of rare diseases 2018; (13(1)):124 doi:10.1186/s13023-018-0860-0.

Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation.

Ballard HA, Leavitt OS, Chin AC, et al.

Paediatric anaesthesia 2018; (28(11)):963-973 doi:10.1111/pan.13475.

Spinal anesthesia and postoperative epidural analgesia in a patient with congenital central hypoventilation syndrome -a case report.

Choi Y, Lee S, Lee J, Woo S

Korean journal of anesthesiology 2019; (72(4)):375-380 doi:10.4097/kja.d.18.00118.

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.

Lee JM, Shin J, Kim S, et al.

BioMed research international 2018; (2018()):1250721 doi:10.1155/2018/1250721.

Daily Sodium Monitoring and Fluid Intake Protocol: Preventing Recurrent Hospitalization in Adipsic Diabetes Insipidus.

Pabich S, Flynn M, Pelley E

Journal of the Endocrine Society 2019; (3(5)):882-886 doi:10.1210/js.2018-00406.

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time.

Jalal Eldin AW, Tombayoglu D, Butz L, et al.

Clinical diabetes and endocrinology 2019; (5()):9 doi:10.1186/s40842-019-0082-y.

Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians.

Fisher M, Smeiles C, Jnah AJ, et al.

Neonatal network : NN 2019; (38(4)):217-225 doi:10.1891/0730-0832.38.4.217.

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.

Harvengt J, Gernay C, Mastouri M, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(7)) doi:10.1210/clinem/dgaa247.

Altered slow-wave sleep activity in children with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation syndrome.

Goldbart AD, Arazi A, Golan-Tripto I, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2020; (16(10)):1731-1735 doi:10.5664/jcsm.8678.

Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support.

Stowe RC, Afolabi-Brown O

Pediatric investigation 2019; (3(4)):253-256 doi:10.1002/ped4.12168.

Neuroimaging and Pathology Findings Associated With Rapid Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome.

Gharial J, Ganesh A, Curtis C, et al.

Journal of pediatric hematology/oncology 2021; (43(4)):e571-e576 doi:10.1097/MPH.0000000000001927.

A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome.

Özcan G, Özsu E, Şiklar Z, Çobanoğlu N

Frontiers in pediatrics 2020; (8()):573227 doi:10.3389/fped.2020.573227.

Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction.

Ghosh R, Malik M, Daley TC, Kasi AS

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2022; (18(1)):339-342 doi:10.5664/jcsm.9636.

A Case Report of ROHHAD Syndrome in an 8-year-old Iranian Boy.

Amjadipour A, Shahkar L, Hanafi F

International journal of endocrinology and metabolism 2021; (19(3)):e111571 doi:10.5812/ijem.111571.

Adrenal ganglioneuroma: Prognostic factors (Review).

Sandru F, Dumitrascu MC, Petca A, et al.

Experimental and therapeutic medicine 2021; (22(5)):1338 doi:10.3892/etm.2021.10773.

Evolution of physiologic and autonomic phenotype in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation over a decade from age at diagnosis.

Khaytin I, Stewart TM, Zelko FA, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2022; (18(3)):937-944 doi:10.5664/jcsm.9740.

Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report.

Marpuri I, Ra E, Naguib MN, Vidmar AP

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(4)):543-548 doi:10.1515/jpem-2021-0600.

ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.

Mandel-Brehm C, Benson LA, Tran B, et al.

Annals of neurology 2022; (92(2)):279-291 doi:10.1002/ana.26380.

Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision.

Puri S, Yaddanapudi S, Menon P

Anaesthesia reports 2022; (10(1)):e12172 doi:10.1002/anr3.12172.

Developmental disorders affecting the respiratory system: CCHS and ROHHAD.

Ceccherini I, Kurek KC, Weese-Mayer DE

Handbook of clinical neurology 2022; (189()):53-91 doi:10.1016/B978-0-323-91532-8.00005-7.

Approach to the Patient: Diagnosis of Cushing Syndrome.

Savas M, Mehta S, Agrawal N, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(11)):3162-3174 doi:10.1210/clinem/dgac492.

Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction.

Zhao R, Dong X, Gao Z, Han F

Frontiers in pediatrics 2022; (10()):919921 doi:10.3389/fped.2022.919921.

Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD.

Zelko FA, Welbel RZ, Rand CM, et al.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2023; (33(3)):217-230 doi:10.1007/s10286-022-00901-1.

Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome - neuro-endocrine tumours (ROHHAD-NET): case series and learning points.

Hawton K, Hilliard T, Langton-Hewer SC, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(4)):418-423 doi:10.1515/jpem-2022-0376.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.

Khaytin I, Victor AK, Barclay SF, et al.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2023; (33(3)):251-268 doi:10.1007/s10286-023-00936-y.

Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?

Grossi A, Rusmini M, Cusano R, et al.

Frontiers in genetics 2023; (14()):1031074 doi:10.3389/fgene.2023.1031074.

The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor.

Roby P, Smith Beltran G, Finch C, et al.

Cureus 2023; (15(12)):e50341 doi:10.7759/cureus.50341.

Anti-ZSCAN1 Autoantibodies Are a Feasible Diagnostic Marker for ROHHAD Syndrome Not Associated with a Tumor.

Nakamura-Utsunomiya A, Yamaguchi K, Goshima N

International journal of molecular sciences 2024; (25(3)) doi:10.3390/ijms25031794.

Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.

Serafim AB, Olivé-Cirera G, Ortega-González Á, et al.

Neurology(R) neuroimmunology & neuroinflammation 2024; (11(5)):e200276 doi:10.1212/NXI.0000000000200276.

Feasibility, safety, and efficacy of dietary or lifestyle interventions for hypothalamic obesity: A systematic review.

Van Roessel IMAA, Van Den Brink M, Dekker J, et al.

Clinical nutrition (Edinburgh, Scotland) 2024; (43(8)):1798-1811 doi:10.1016/j.clnu.2024.05.028.

Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation.

Kasi AS, Perez IA

Clinics in chest medicine 2024; (45(3)):663-673 doi:10.1016/j.ccm.2024.02.018.

Emphasizing autonomic dysregulation evaluation contributes to the diagnosis of ROHHAD syndrome.

Wang Y, Xu Y, Xie R, et al.

Endocrine connections 2024; (13(11)).

An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report.

Hasuike S, Ozono Y, Uchida K, et al.

Medicine 2024; (103(22)):e38383 doi:10.1097/MD.0000000000038383.

Case Report: A case of thoracoscopic mediastinal tumor resection in a child with ROHHAD syndrome.

Ma Y, Gao J, Huo L, Wang F

Frontiers in pediatrics 2024; (12()):1450017 doi:10.3389/fped.2024.1450017.

Cushing syndrome in paediatric population: who and how to screen.

Chioma L, Patti G, Cappa M, Maghnie M

Journal of endocrinological investigation 2025; (48(Suppl 1)):7-19 doi:10.1007/s40618-024-02452-w.

Adipsic arginine vasopressin deficiency: challenges in managing the intricate interplay of adipsia with polyuria.

Malik A, Singh R, Goyal A, Gupta R

BMJ case reports 2024; (17(10)) doi:10.1136/bcr-2024-261497.

The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.

Hawton K, Giri D, Crowne E, et al.

Brain sciences 2024; (14(11)) doi:10.3390/brainsci14111046.

ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.

Priyadarshini S, Verma A, Paul PG, et al.

Indian journal of pediatrics 2025; (92(11)):1194-1200 doi:10.1007/s12098-024-05291-y.

The Central Control of Energy Metabolism: Hypothalamic Obesity Is Not One Disease.

van Santen HM

Hormone research in paediatrics 2026; (99(2)):175-184 doi:10.1159/000543544.

ROHHAD-NET Syndrome: A Case Series.

Soodhana D, Iyer MS, George J, et al.

Journal of the ASEAN Federation of Endocrine Societies 2025; (40(1)):126-132 doi:10.15605/jafes.040.01.10.

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.

van Engelen N, van Santen HM, van Dijk F, et al.

Orphanet journal of rare diseases 2025; (20(1)):412 doi:10.1186/s13023-025-03938-3.

Clinical Description of Ten Pediatric Patients with Clinical Signs of ROHHAD-NET Syndrome and Review of the Literature.

Aziz M, Leske V, Guerdile MJ, et al.

Hormone research in paediatrics 2025; 1-11 doi:10.1159/000549050.

Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation as a paraneoplastic syndrome in neuroblastoma: case report.

Zhang S, Zhao W, Jin M, et al.

Translational pediatrics 2025; (14(9)):2393-2400 doi:10.21037/tp-2025-269.

Epidemiology of acquired hypothalamic obesity following traumatic brain injury and nonspecific hypothalamic microinjury: A nationwide German claims data analysis.

Witte J, Touchot N, Batram M, et al.

Journal of neuroendocrinology 2026; (38(1)):e70108 doi:10.1111/jne.70108.

Novel autonomic dysregulation score in children with hypothalamic syndrome.

Doelman-Oldenburger NJ, Müller HL, van Santen HM

Endocrine connections 2025; (14(12)).

Clinical characteristics and anti-ZSCAN1 antibody titer analysis in a nationwide survey of ROHHAD (-NET) syndrome.

Nakamura-Utsunomiya A, Hasegawa K, Ono T, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(8)):2232-2241 doi:10.1210/clinem/dgag109.

Melanocortin-4 Receptor Agonist Treatment of Hypothalamic Obesity in ROHHAD Syndrome.

Grünewald A, Steidel E, Müntjes C, et al.

Pediatrics 2026; (157(6)) doi:10.1542/peds.2025-074432.

Night Terrors and Delirium in a Child With Presumed Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation.

Donaldson RA, Kothari S, Diaz Stransky A, et al.

Cureus 2026; (18(4)):e107609 doi:10.7759/cureus.107609.

Case Report: First description of an intracranial "NET" in ROHHAD syndrome; time to rename to the ROHHAD-NeCT syndrome?

Doelman-Oldenburger NJ, Schouten-van Meeteren AYN, Kranendonk MEG, et al.

Frontiers in endocrinology 2026; (17()):1828990 doi:10.3389/fendo.2026.1828990.

ROHHAD syndrome: an interdisciplinary perspective.

Mercante A, Salerno A, Marinetto A, et al.

Frontiers in pediatrics 2026; (14()):1777286 doi:10.3389/fped.2026.1777286.