Angelman syndrome and anesthesia

Patil, J. J.; Sindhakar, Seema

doi:10.1111/j.1460-9592.2008.02702.x

Cited by 6 publications

(8 citation statements)

References 2 publications

(4 reference statements)

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“…The systematic review of the literature identified one case series of anesthetic management in English ( 14 ), one English case series of dental care which briefly discusses anesthetic management ( 15 ), a case series in German 13 and case reports in English ( 6 - 8 , 11 , 12 , 16 - 21 ), Spanish ( 22 - 24 ), and Japanese ( 25 - 30 ). Two reports ( 8 ) appear to reference the same case.…”

Section: Resultsmentioning

confidence: 99%

“…In our series we could not retrospectively determine if postoperative pain management was confounded, but no patients were reported to have pain or were administered analgesic medications ( Table 2 ) despite the fact that some procedures had the potential to be painful (i.e., strabismus surgery, adenotonsillectomy). Patil et al ( 16 ) described severe postoperative agitation in a 12 year-old boy following strabismus surgery which was attributed to anxiety, but it could had been from pain. Given this theoretical concern, the presence of parent or guardian familiar with the patient may be helpful in postoperative pain assessments.…”

Section: Discussionmentioning

confidence: 99%

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Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature

et al. 2017

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BackgroundAngelman syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, severe speech impairment, ataxia, seizures, happy demeanor, distinctive craniofacial features, high vagal tone, and gamma-amino butyric acid receptor abnormalities. The aim of this report is to review our experience of patients with Angelman syndrome undergoing anesthetic management.MethodsWe retrospectively reviewed perioperative course of patients with Angelman syndrome who underwent procedures under anesthesia from 2000 to 2016.ResultsSix patients with Angelman syndrome underwent 18 procedures; 14 performed under general anesthesia, and 4 with monitored anesthetic care, many for minor procedures (e.g., dental and diagnostic). Five patients had profound developmental delay and were nonverbal and 4 of them had epilepsy. The perioperative courses were uncomplicated except a 2 year-old girl having an intraoperative bronchospasm, a 16 year-old girl requiring flumazenil administration, and 28 year-old man who was electively intubated with a videolaryngoscope because of airway management concerns. No patients were documented as having postoperative pain.ConclusionsAngelman syndrome patients often require anesthesia for relatively innocuous procedures, and their speech impairment and happy demeanor can confound postoperative pain assessment. Patients can have atypical responses to benzodiazepines. Craniofacial abnormalities can complicate airway management. Although not encountered in this series, anesthesiologists need to be aware that Angelman syndrome patients have developed malignant bradydysrhythmias while anesthetized.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature

et al. 2017

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“…In 2 Fällen waren Strabismusoperationen durchgeführt worden; hierbei war einmal eine totale intravenöse Anäs-thesie (TIVA) angewendet worden, und in beiden Fällen wurde keine spezifische "Postoperative-nausea-and-vomiting"-(PONV-)Prophylaxe vermerkt [33,34]. Eine Operation war gynäkologisch [19], eine traumatologisch [40], 2 otorhinolaryngologisch [1,24], und 5 Operationen waren durch zahnärztliche Behandlung bedingt [7,17,18,23,28,37].…”

Section: Fallvorstellungen Aus Der Literaturunclassified

“…In 4 Fällen waren Neostigmin oder Pyridostigmin in Kombination mit Glycopyrronium standardmäßig zur Antagonisierung der neuromuskulä-ren Blockade eingesetzt worden [23,28,34,37]. In einem Fall war Thiopental [7], in 2 Fällen Ketamin zum Einsatz gekommen.…”

Section: Fallvorstellungen Aus Der Literaturunclassified

“…In einem Fall war Thiopental [7], in 2 Fällen Ketamin zum Einsatz gekommen. In einem dieser Fälle hatte eine Einleitung mit Propofol und Ketamin stattgefunden, die Narkose war mit Sevofluran und Fentanyl fortgeführt worden, jeweils in -nichtangegebenen -geringen Dosierungen, um die Narkose über verschiedene Rezeptortypen auszuführen (GABA A , NMDA, Opiat; [17,18] [34].…”

Section: Fallvorstellungen Aus Der Literaturunclassified

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Anästhesie beim Angelman-Syndrom

2011

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Angelman syndrome (AS) is a rare neurodevelopmental disorder with an incidence of 1:10,000-1:40,000 caused by deficient genetic imprinting in the chromosomal segment 15q11-q13. Experimental data suggest that the gamma-aminobutyric acid A (GABA(A)) receptor as well as the N-methyl-D-aspartate (NMDA) or α-amino-3-hydroxy-5-methyl-4-isoxazole proprionic acid (AMPA) receptors may be affected by this condition. The first description of the syndrome goes back to 1965 when the British pediatrician Harry Angelman (1915-1996) recognized similar clinical features in three children. Angelman's description of puppet children was changed to happy puppet syndrome 2 years later before this euphemistic denotation was replaced by the concept Angelman syndrome over the years. Angelman syndrome is characterized by ataxia, jerky movements especially hand flapping, a seizure disorder with a characteristic electroencephalogram (EEG), severe learning difficulties, a happy disposition, lack of verbal communication and dysmorphic facial features. Most hospitalizations are caused by epilepsy and the most common indications for surgical procedures are in dental medicine. The first anesthesiology case report to be published dates back to 2001. A total of 13 cases have now been published and in 11 cases the age was registered (mean age 11.6 years, standard deviation 11.7 and 2 outliers aged 27 and 40 years). In this paper, the published case reports are contrasted with 15 cases of anesthesia in 6 patients with AS who underwent surgery during 14 years of routine operations at a Berlin anesthesiology clinic (mean age 15.9 years, standard deviation 4.2 with no outliers). Besides neurosurgical and orthopedic operations most were dental interventions. Summarized, these cases of anesthesia and the results of the published case reports allow the formulation of guidelines for administration of anesthesia in AS cases but do not permit conclusions on which method of anesthesia is the safest for AS patients. For the preoperative consultation and anesthetization, communication with the patients requires the aid of parents or other relatives. Water and reflecting surfaces may be used to gain contact with AS patients. Patients with AS feel pain like any other person although they are frequently smiling and laughing and this has to be considered especially in major surgery (e.g. scoliosis surgery). The most important life-threatening complication is bradycardia due to vagal hypertonia which can lead to asystole with delayed response to atropine. None of the Berlin patients had severe bradycardia but the complication has to be taken into consideration. The use of drugs to ensure complete reversal of neuromuscular relaxation should be avoided because anticholinergic agents could cause bradycardia. The use of sugammadex in cases of AS has not been tested. To avoid elevation of the vagal tone, the indications for laparascopy have to be considered very carefully. There is no evidence that any drug or hypnotic may be more appropriate or advantageous. Balanced an...

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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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Angelman syndrome and anesthesia

Cited by 6 publications

References 2 publications

Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature

Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature

Anästhesie beim Angelman-Syndrom

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

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