Anaesthesia for an adult with Angelman syndrome

Maguire, M.

doi:10.1111/j.1365-2044.2009.06033.x

Cited by 8 publications

(13 citation statements)

References 27 publications

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“…In this series, Patients#4 and #6 were of the age that they should not have required anesthetic management if they had been of normal intelligence when they underwent simple procedures (dental extraction and minor diagnostic procedures). Placement of intravenous lines may be difficult because these patients are often uncooperative ( 17 ). Further, these patients typically appear to be happy and frequently laugh and smile, even under inappropriate circumstances ( Figure 1 ).…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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

et al. 2017

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“…Generalized muscular hypertonia and temporary respiratory compromise has been reported postoperatively by Maguire[ 3 ] in an adult with AS. Increased sensitivity to muscle relaxants may be the cause and use of neuromuscular monitoring is mandatory if muscle relaxants are administered.…”

mentioning

confidence: 79%

“…Genetic abnormalities of chromosome 15 result in concomitant deletions of region encoding for the B3 subunit of the GABA-A receptor. [ 2 3 ] Anti-anxiety medications, sedative hypnotics, general anesthetics and anti-seizure drugs act through the GABA receptor, and thus response of patients with AS to these drugs is unpredictable. Patients may also have a dysregulation of NMDA or AMPA receptors.…”

mentioning

confidence: 99%

Genetic heterogenicity of Angelman syndrome and its significance to the anesthesiologist

et al. 2015

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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]. Zwei Fallberichte beziehen sich auf ein-und dieselbe Narkose [17,18].…”

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

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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Anaesthesia for an adult with Angelman syndrome

Cited by 8 publications

References 27 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

Genetic heterogenicity of Angelman syndrome and its significance to the anesthesiologist

Anästhesie beim Angelman-Syndrom

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