Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)

Rand, Casey M.; Patwari, Pallavi P.; Carroll, Michael S.; Weese‐Mayer, Debra E.

doi:10.1016/b978-0-12-378610-4.00540-4

Cited by 1 publication

(2 citation statements)

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“…While originally regarded as a variant of central hypoventilation syndrome, Rapid‐onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is now considered a distinct diagnostic entity, distinguished from what is now called congenital central hypoventilation syndrome (CCHS), most obviously by the absence of a disease‐causing mutation in the paired‐like homeobox 2B gene ( PHOX2B ). As underscored by the acronym ROHHAD, the acute development of obesity (20–30 pounds over 6–12 months in a young child) and the typical progression of the disease phenotype also help differentiate it from other respiratory and autonomic disorders …”

Section: Introductionmentioning

confidence: 99%

“…As underscored by the acronym ROHHAD, the acute development of obesity (20-30 pounds over 6-12 months in a young child) and the typical progression of the disease phenotype 3 also help differentiate it from other respiratory and autonomic disorders. 3,4,5 While the sudden and dramatic weight gain (with a pattern distinct from exogenous obesity) is the symptom that often brings patients to medical attention, the greatest acute threat to these children is the risk of sudden death due to cardiorespiratory arrest, likely resulting from unrecognized hypoventilation and altered autonomic tone. Even if such life-threatening events can be avoided, there is an ongoing neurocognitive cost to recurrent hypoxemia and hypercarbia during wakefulness and sleep in ROHHAD.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2015

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Hypoventilation is a defining feature of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), a rare respiratory and autonomic disorder. This chronic hypoventilation has been explained as the result of dysfunctional chemosensory control circuits, possibly affecting peripheral afferent input, central integration, or efferent motor control. However, chemosensory function has never been quantified in a cohort of ROHHAD patients. Therefore, the purpose of this study was to assess the response to awake ventilatory challenge testing in children and adolescents with ROHHAD. The ventilatory, cardiovascular and cerebrovascular responses in 25 distinct comprehensive physiological recordings from seven unique ROHHAD patients to three different gas mixtures were analyzed at breath-to-breath and beat-to-beat resolution as absolute measures, as change from baseline, or with derived metrics. Physiologic measures were recorded during a 3-min baseline period of room air, a 3-min gas exposure (of 100% O2; 95% O2, 5% CO2; or 14% O2, 7% CO2 balanced with N2), and a 3-min recovery period. An additional hypoxic challenge was conducted which consisted of either five or seven tidal breaths of 100% N2. While ROHHAD cases showed a diminished VT and inspiratory drive response to hypoxic hypercapnia and absent behavioral awareness of the physiologic compromise, most ventilatory, cardiovascular, and cerebrovascular measures were similar to those of previously published controls using an identical protocol, suggesting a mild chemosensory deficit. Nonetheless, the high mortality rate, comorbidity and physiological fragility of patients with ROHHAD demand continued clinical vigilance.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%