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

Abstract

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.

Strabismus surgery in Angelman syndrome: More than ocular alignment

“…Concerning anesthesiological issues, even tough, according to some authors [28], AS patients may be at higher risk of complications, our patients well tolerated the anaesthetic management, similarly to the subjects investigated by Ye et al [26].…”

“…Surgical planning can be difficult in children with AS, since clinical evaluation and precise strabismus assessment are often challenging [26], standard strabismus surgery presents scarce and unpredictable outcomes in delayed children [27], yet, in the scientific literature there is no consensus on the most suitable surgical dosage adjustment [18][19][20][21][22][23][24]. Anesthesia planning can also be demanding in AS subjects, as complex airway management due to craniofacial abnormalities, atypical responses to benzodiazepines and malignant bradydysrhythmias during anesthesia have been reported [28]. Finally, even the evaluation of surgical outcomes can be PLOS ONE critical in AS subjects, that usually show motor function impairment, cognitive and communicative disability and inattention.…”

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing

“…However, of the 195 cases of CNVs in the present study, most were not associated with any pathological disease, with the exception of one case associated with WHS, one with DGS, and another associated with both PW and AS. WHS, DGS and PW or AS can affect some pregnancies, ultimately causing neonatal defects, such as developmental delays, skeletal anomalies, as well as cardiac, neurological and endocrinal abnormalities (43)(44)(45).…”

Epilepsy in Angelman syndrome: A scoping review

“…Vagal hypertonicity has been speculated in AS secondary to a central mechanism or due to intrathoracic pressure changes associated with frequent laughter. Preoperative use of anticholinergics has been recommended as a unique management consideration for AS patients [57]. Although the vagal hypertonicity may indicate an increased risk of bradyarrhythmia, this has not been noted in clinical experience.…”