06/09/2024
Angelman Syndrome
ref: Journal of Clinical Anesthesia. 26(1):75-9, 2014 Feb.
* a genetic disorder characterized by
: Severe developmental delay
: Speech disorder >receptive language problem>,
: Ataxia (lack of muscle control in arms and legs) -- more susceptible to effect of neuromuscular blocking agent (more prone to falls/accidents after sedation-anesthesia).
: Craniofacial abnormalities
: Odd behavior accompanied by a happy disposition and occasional bouts of laughter.
* Prevalence from one in 10,000 to one in 40,000 - Variation in phenotypes.
*Perioperative Anesthesia consideration
: Variability in phenotypes
: Pharmacodynamic unpredictability
*Prognosis and Treatment
: for those with a longer lifespan, seizures typically persist with less severity and an improved EEG pattern over time.
: Adult with AG retain their behavioral uniqueness; but they have a calmer demeanor, are less excitable and have fewer outbursts of laughter than younger patients.
: Treatment limits to control of seizures. -- research suggests that pt has good therapeutic response to valproic acid, phenobarbital, and clonazepam, as well as other BZD -- as a result of changes in the GAGA-A system.
*Vagal Hypertonia -
: outburst of laughter might cause transient syncope secondary to vagal hypertonia.
: vagal tone might originate centrally and may be induced by changes in intrathoracic pressures and Valsalva-like maneuvers during the bouts of laughter.
Other ref:
Angelman syndrome is a severe neurological disorder characterized by developmental delays, epilepsy, and problems with motor coordination and balance. It is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965. Individuals with AS do not develop functional s...