Literature DB >> 11806751

Drowning as a cause of death in Angelman syndrome.

Holly A Ishmael1, Michael L Begleiter, Merlin G Butler.   

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.

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Year:  2002        PMID: 11806751      PMCID: PMC5289121          DOI: 10.1352/0895-8017(2002)107<0069:DAACOD>2.0.CO;2

Source DB:  PubMed          Journal:  Am J Ment Retard        ISSN: 0895-8017


  5 in total

1.  Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning.

Authors:  M J Ackerman; D J Tester; C J Porter; W D Edwards
Journal:  N Engl J Med       Date:  1999-10-07       Impact factor: 91.245

Review 2.  The Romano-Ward syndrome: a case presenting as near drowning with a clinical review.

Authors:  E M Harris; J F Knapp; V Sharma
Journal:  Pediatr Emerg Care       Date:  1992-10       Impact factor: 1.454

3.  Problem behaviors associated with 15q- Angelman syndrome.

Authors:  D J Clarke; G Marston
Journal:  Am J Ment Retard       Date:  2000-01

4.  Epilepsy as a risk factor for submersion injury in children.

Authors:  D S Diekema; L Quan; V L Holt
Journal:  Pediatrics       Date:  1993-03       Impact factor: 7.124

5.  Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Authors:  C A Williams; H Angelman; J Clayton-Smith; D J Driscoll; J E Hendrickson; J H Knoll; R E Magenis; A Schinzel; J Wagstaff; E M Whidden
Journal:  Am J Med Genet       Date:  1995-03-27
  5 in total
  3 in total

1.  Childhood drowning in Manitoba: A 10-year review of provincial Paediatric Death Review Committee data.

Authors:  Kristin M Bristow; James B Carson; Lynne Warda; Ruthanne Wartman
Journal:  Paediatr Child Health       Date:  2002-11       Impact factor: 2.253

Review 2.  Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

Authors:  Anne C Wheeler; Patricia Sacco; Raquel Cabo
Journal:  Orphanet J Rare Dis       Date:  2017-10-16       Impact factor: 4.123

3.  Behavior and neuropsychiatric manifestations in Angelman syndrome.

Authors:  Karine Pelc; Guy Cheron; Bernard Dan
Journal:  Neuropsychiatr Dis Treat       Date:  2008-06       Impact factor: 2.570

  3 in total

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