ArticleOrphanet journal of rare diseases2018
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Long-term intranasal oxytocin therapy in patients with hypothalamic syndrome: case series and literature review.Endocrine connections · 2025Article
- Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.Orphanet journal of rare diseases · 2025Article
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- ROHHAD syndrome spectrum in an adult: a possible new variant.ERJ open research · 2024Article
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Autonomic nervous system dysfunction in Prader-Willi syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?Frontiers in genetics · 2023Article
- HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome.Frontiers in genetics · 2023Article
- Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS.Frontiers in pediatrics · 2023Article
- Case report: Molecular characterisation of adipose-tissue derived cells from a patient with ROHHAD syndrome.Frontiers in pediatrics · 2023Article
- Acute COVID-19 Infection in a Pediatric Patient with ROHHAD.Journal of pediatric genetics · 2022Article
- ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.Annals of neurology · 2022Article
- Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome.International journal of molecular sciences · 2022Review
- Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022Article
- [Fever for 2 months and disturbance of consciousness for 1 week in a preschool-aged girl].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review.International journal of general medicine · 2021Review
- Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time.Clinical diabetes and endocrinology · 2019Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. We performed an in-depth clinical comparison of the phenotypes of ROHHAD and PWS and used NGS and Sanger sequencing to analyze the coding regions of genes in the PWS region among seven ROHHAD probands.
resultsDetailed clinical comparison of ROHHAD and PWS patients revealed many important differences between the phenotypes. In particular, we highlight the fact that the areas of apparent overlap (childhood-onset obesity, hypoventilation, autonomic dysfunction) actually differ in fundamental ways, including different forms and severity of hypoventilation, different rates of obesity onset, and different manifestations of autonomic dysfunction. We did not detect any disease-causing mutations within PWS candidate genes in ROHHAD probands.
conclusionsROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS.
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