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Drowning as a cause of death in Angelman syndrome
Holly A Ishmael1, Michael L Begleiter, Merlin G Butler
1Children's Mercy Hospitals, University of Missouri-Kansas City School of Medicine, MO 64108, USA.
Abstract:
Angelman syndrome is characterized by mental retardation, seizures, ataxia, inappropriate laughter, lack of speech, a particular facial appearance, and generally a chromosome 15q11-q13 deletion. Recently, a fascination with water and water-related activities has been reported in individuals with the syndrome. We report on a 9.6-year-old male previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. This case further illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. We wish to alert careproviders that this fascination with water and water-related activities may contribute to death and that these individuals should be closely supervised when in the presence of water.