Creating a data dictionary for pediatric autonomic disorders

Boris, Jeffrey R.; Abdallah, Hasan I.; Ahrens, Shelley; Chelimsky, Gisela; Chelimsky, Thomas C.; Fischer, Philip R.; Fortunato, John E.; Gavin, R; Gilden, Janice; Gonik, Renato; Grubb, Blair P.; Klaas, Kelsey; Marriott, Erin; Marsillio, Lauren; Medow, Marvin S.; Norcliffe‐Kaufmann, Lucy; Numan, Mohammed T; Olufs, Erin; Pace, Laura A.; Pianosi, Paul; Simpson, Pippa; Stewart, Julian M.; Tarbell, Sally E.; Waning, Natalie R Van; Weese‐Mayer, Debra E.

doi:10.1007/s10286-023-00923-3

Cited by 5 publications

(4 citation statements)

References 59 publications

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“…when assuming an upright posture and resolved when seated or supine. 18 Chronic OI is present for ≥3 months, with associated functional impairment. 18 The results of our study further strengthen an association with autonomic dysfunction, as 10 of 17 (59%) of patients were diagnosed with autonomic dysfunction based off supportive history of chronic OI with quantitative abnormalities in ARS, higher than the 20% that has previously been reported.…”

Section: Discussionmentioning

confidence: 99%

“…18 Chronic OI is present for ≥3 months, with associated functional impairment. 18 The results of our study further strengthen an association with autonomic dysfunction, as 10 of 17 (59%) of patients were diagnosed with autonomic dysfunction based off supportive history of chronic OI with quantitative abnormalities in ARS, higher than the 20% that has previously been reported. 8 An elevated association with autonomic dysfunction could be attributed to the high number of patients presenting to Mayo Clinic as a multi-specialty referral center with autonomic concerns, as well as high awareness by providers of the symptoms of BASCULE syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…OI is defined as the presence of one or more symptoms (dizziness, lightheadedness, nausea, dyspnea, vision change, etc.) when assuming an upright posture and resolved when seated or supine 18 . Chronic OI is present for ≥3 months, with associated functional impairment 18 .…”

Section: Discussionmentioning

confidence: 99%

“…Given these results, we suggest potential benefit from systematic screening of patients with BASCULE syndrome for autonomic dysfunction. Specialty referral or ARS testing should be considered in patients with BASCULE syndrome who also meet criteria for chronic OI (symptomatic OI lasting ≥3 months, with associated functional impairment) 18 . While additional evaluation for autonomic dysfunction may be unlikely to significantly alter the disease course of BASCULE syndrome, appropriate evaluation and management of associated autonomic dysfunction is warranted for optimal patient care.…”

Section: Discussionmentioning

confidence: 99%

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Bridging the gap in BASCULE syndrome: A retrospective case series of a recently described clinical entity

Reinhart,

Kumar,

Casanegra

et al. 2023

Pediatric Dermatology

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BackgroundBier anemic spots, cyanosis with urticaria‐like eruption (BASCULE) syndrome is a recently described entity with episodic urticarial lesions and white anemic halos on a background of erythrocyanosis, commonly affecting the lower extremities. Possible association with autonomic dysfunction remains poorly understood. Existing publications are limited, but the condition is suggested as highly underrecognized.ObjectiveTo further characterize clinical and epidemiologic data for BASCULE syndrome.MethodsWe performed an IRB‐approved retrospective chart review on patients with BASCULE syndrome evaluated at Mayo Clinic from April 2021 to November 2022.ResultsA total of 17 patients were identified (13 female, 4 male). Median age of onset was 12 years (range 9–17). Lower extremities were involved in all patients (17). Most patients were symptomatic with pruritus (8) or burning pain (8); three were asymptomatic. Triggers were standing (11), hot showers or hot environments (7), or no clear trigger (4). Autonomic dysfunction was present in 10 patients. Treatment responses were observed from propranolol (3) and high‐dose cetirizine (1).ConclusionNovel epidemiologic data from 17 pediatric and young adult patients with BASCULE syndrome further supports an association with autonomic dysfunction and suggests a higher prevalence than previously acknowledged.

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Section: Discussionmentioning

confidence: 99%