Anesthesia considerations for an adult patient with Angelman syndrome

Μakris, Alexandros; Kalampokini, A; Tsagkaris, M

doi:10.1016/j.jclinane.2018.01.027

Cited by 2 publications

(2 citation statements)

References 5 publications

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“…Complications of anesthesia are rare, and typical management by the anesthesiologist is generally safe (Errando et al, 2007 ; Gardner et al, 2008 ; Kemper et al, 2010 ; Kim et al, 2010 ; Makris et al, 2018 ; Patil & Sindhakar, 2008 ; Rosado Fuentes et al, 2009 ; Warner et al, 2017 ; Witte et al, 2011 ). Specific intraoperative considerations associated with anesthesia include GABA receptor involvement in AS, since many intravenous and inhaled anesthetic agents modulate these receptors.…”

Section: Review and Practice Guidelinesmentioning

confidence: 99%

“…Supplementation with vitamin D, calcium, and B vitamins should be provided at the recommended daily allowance (Vestergaard & Sayegh, 1966 ). A multivitamin with minerals is a universal recommendation (Makris et al, 2018 ). Levels of carnitine, selenium, magnesium, zinc, phosphorus, iron, and copper should be monitored along with beta‐hydroxybutyrate while on dietary therapy.…”

Section: Review and Practice Guidelinesmentioning

confidence: 99%

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A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Duis

Nespeca

Summers

et al. 2022

Molec Gen & Gen Med

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Background Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence‐based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. Methods We compiled the key recognized clinical features of AS based on consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed. Results Areas covered by working groups in the consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence‐based care guidelines. Conclusion Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease‐modifying therapies are emerging. This document is a framework for providers of all familiarity levels.

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Section: Review and Practice Guidelinesmentioning

confidence: 99%

Section: Review and Practice Guidelinesmentioning

confidence: 99%

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Duis

Nespeca

Summers

et al. 2022

Molec Gen & Gen Med

View full text Add to dashboard Cite

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Hyperkaliaemic cardiac arrest in Angelman’s syndrome following suxamethonium

Whitaker,

Yousef,

Mauro

2024

BMJ Case Rep

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We present a case of hyperkaliaemic cardiac arrest in a patient with Angelman’s syndrome after administration of suxamethonium in rapid sequence intubation. The patient was admitted to the critical care unit in with aspiration pneumonia and intestinal obstruction. They had a cardiac arrest after suxamethonium administration. Potassium level was remarkably high (11.1 mmol/L). ROSC was achieved after 26 min of CPR and resuscitation. We discuss Angelman’s syndrome molecular pathology, especially affecting the potassium channels transmission and its relation to suxamethonium in emergency intubation.

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Anesthesia considerations for an adult patient with Angelman syndrome

Cited by 2 publications

References 5 publications

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Hyperkaliaemic cardiac arrest in Angelman’s syndrome following suxamethonium

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